### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAGEL2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MAGEL2" "MAGE-like 2" "15" "q11-q12" "maternal" "NC_000015.9" "UD_132118237990" "" "https://www.LOVD.nl/MAGEL2" "" "1" "6814" "54551" "605283" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/MAGEL2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-09 18:31:55" "00000" "2025-11-05 13:51:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011687" "MAGEL2" "MAGE-like 2" "001" "NM_019066.4" "" "NP_061939.3" "" "" "" "-104" "4194" "3750" "23892993" "23888696" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "03999" "SHFYNG" "Schaaf-Yang syndrome (SHFYNG)" "AD" "615547" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MAGEL2" "00138" "MAGEL2" "00139" "MAGEL2" "03999" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00001234" "" "" "" "1" "" "00084" "{PMID:Schaaf 2013:24076603}" "" "M" "no" "United States" "" "0" "" "" "white" "Pat1" "00001608" "" "" "" "1" "" "00084" "{PMID:Schaaf 2013:24076603}" "" "M" "-" "United States" "" "0" "" "" "Hispanic" "Pat2" "00001609" "" "" "" "1" "" "00084" "{PMID:Schaaf 2013:24076603}" "" "M" "-" "United States" "" "0" "" "" "white" "Pat3" "00001610" "" "" "" "1" "" "00084" "{PMID:Schaaf 2013:24076603}" "" "M" "-" "United States" "" "0" "" "" "Hispanic" "Pat4" "00080892" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00146557" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00165095" "" "" "" "1" "" "02517" "{PMID:Negishi 2019:31791363}" "" "F" "no" "Japan" "05y" "0" "" "" "" "Pat1" "00165096" "" "" "" "1" "" "02517" "{PMID:Negishi 2019:31791363}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "3y" "" "" "Pat2" "00165097" "" "" "" "1" "" "02517" "{PMID:Negishi 2019:31791363}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "01y" "0" "" "" "" "Pat3" "00165098" "" "" "" "1" "" "02517" "{PMID:Negishi 2019:31791363}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "06y" "0" "" "" "" "Pat4" "00165099" "" "" "" "2" "" "02517" "{PMID:Negishi 2019:31791363}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier father and paternal grandmother" "M" "no" "Japan" "23y" "0" "" "" "" "FamPat5" "00165100" "" "" "00165099" "1" "" "02517" "{PMID:Negishi 2019:31791363}" "brother" "M" "no" "Japan" "12y" "0" "" "" "" "FamPat6" "00288209" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat19" "00291162" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307207" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-1250" "00307235" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-1694" "00307237" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D18-2007" "00314908" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio102" "00419466" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8023" "00428223" "" "" "" "1" "" "00006" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "Fam4PatII1" "00444047" "" "" "" "1" "" "00006" "{PMID:Sarker 2023:38057384}" "no family history" "M" "" "Bangladesh" "" "0" "" "" "" "PID_15" "00457745" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00466179" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" "00467295" "" "" "" "2" "" "00006" "{PMID:Soden 2014:25473036}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "CMH382" "00467311" "" "" "" "1" "" "00006" "{PMID:Patak 2019:31397880}" "2-generation family, unaffected non-carrier parents" "M" "" "Ireland;Italy;United States" "" "0" "" "" "Europe;native American" "Pat1" "00467312" "" "" "" "1" "" "00006" "{PMID:Patak 2019:31397880}" "2-generation family, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white" "Pat2" "00467313" "" "" "" "1" "" "00006" "{PMID:Patak 2019:31397880}" "2-generation family, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat3" "00467314" "" "" "" "1" "" "00006" "{PMID:Patak 2019:31397880}" "2-generation family, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white" "Pat4" "00467315" "" "" "" "1" "" "00006" "{PMID:Patak 2019:31397880}" "2-generation family, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat5" "00467316" "" "" "" "3" "" "00006" "{PMID:Mejlachowicz 2015:26365340}" "3-generation family, 3 affected fetuses (2F, M)" "F" "" "France" "<0d" "0" "" "" "" "Fam1PatIII1" "00467317" "" "" "00467316" "1" "" "00006" "{PMID:Mejlachowicz 2015:26365340}" "fetus" "F" "" "France" "<0d" "0" "" "" "" "Fam1PatIII2" "00467318" "" "" "00467316" "1" "" "00006" "{PMID:Mejlachowicz 2015:26365340}" "fetus" "M" "" "France" "<0d" "0" "" "" "" "Fam1PatIII3" "00467319" "" "" "" "1" "" "00006" "{PMID:Mejlachowicz 2015:26365340}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "2d" "0" "" "" "" "Fam2PatII1" "00467320" "" "" "" "1" "" "00006" "{PMID:Urreizti 2017:28281571}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Spain" "" "0" "" "" "" "patient" "00467321" "" "" "" "1" "" "00006" "{PMID:Urreizti 2017:28281571}" "" "" "" "Spain" "" "0" "" "" "" "Pat2" "00467322" "" "" "" "1" "" "00006" "{PMID:Urreizti 2017:28281571}" "" "" "" "Spain" "" "0" "" "" "" "Pat12a" "00467323" "" "" "00467295" "1" "" "00006" "{PMID:Soden 2014:25473036}" "sib" "" "" "United States" "" "0" "" "" "" "CMH383" "00467325" "" "" "" "4" "" "00006" "{PMID:Fountain 2017:27195816}" "3-generation family, 4 affected (2F, 2M), 4 unaffected heterozygous carriers" "M" "" "" "" "0" "" "" "" "Fam1Pat1(III4)" "00467326" "" "" "00467325" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "niece" "F" "" "" "" "0" "" "" "" "Fam1Pat2(III2)" "00467327" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00467328" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00467329" "" "" "" "2" "" "00006" "{PMID:Fountain 2017:27195816}" "3-generation family, affected sister/brother, 2 unaffected heterozygous carriers" "F" "" "" "<0d" "0" "" "" "" "Fam2Pat5(III3)" "00467330" "" "" "00467329" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "brother" "M" "" "" "<0d" "0" "" "" "" "Fam2Pat6(III4)" "00467331" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00467332" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00467333" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat9" "00467334" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00467335" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00467336" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat12" "00467337" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00467338" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00467339" "" "" "" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "" "F" "" "" "" "0" "" "" "" "Pat15" "00467340" "" "" "" "11" "" "00006" "{PMID:Fountain 2017:27195816}" "4-generation family, 11 affected (5F, 9M); patient one of affected twins" "M" "" "" "9m" "0" "" "" "" "Fam3Pat18(III20)" "00467341" "" "" "00467340" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "nephew" "M" "" "" "" "0" "" "" "" "Fam3Pat17(III14)" "00467342" "" "" "00467340" "1" "" "00006" "{PMID:Fountain 2017:27195816}" "niece, patient one of affected twins" "F" "" "" "" "0" "" "" "" "Fam3Pat16(III5)" "00467343" "" "" "" "1" "" "00006" "{PMID:Palomares‐Bralo 2017:28640240}" "2-generation family, 1 affected, unaffected parents" "M" "" "Spain" "" "0" "" "" "" "patient" "00467352" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "3-generation family, 1 affected, unaffected carrier father, unaffected non-carrier paternal grandparents" "F" "" "China" "" "0" "" "" "" "Pat_24" "00467355" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat_31" "00467356" "" "" "" "2" "" "00006" "{PMID:Enya 2018:29359444}" "2-generation family, affectedsister/brother, unaffected parent" "F" "" "Japan" "" "0" "" "" "" "FamPatIII1" "00467357" "" "" "00467356" "1" "" "00006" "{PMID:Enya 2018:29359444}" "brother" "M" "" "Japan" "" "0" "" "" "" "FamPatIII2" "00467358" "" "" "" "1" "" "00006" "{PMID:Enya 2018:29359444}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat3" "00467359" "" "" "" "3" "" "00006" "{PMID:Jobling 2018:29599419}" "4-generation family, 3 affected (2F, M), 3 unaffected carrier parents" "F" "" "Canada" "" "0" "" "" "" "Fam1PatI" "00467360" "" "" "" "2" "" "00006" "{PMID:Jobling 2018:29599419}" "2-generation family, 2 affected sisters, unaffected parents" "F" "" "Canada" "" "0" "" "" "" "Fam2PatI" "00467361" "" "" "00467360" "1" "" "00006" "{PMID:Jobling 2018:29599419}" "sister" "F" "" "Canada" "" "0" "" "" "" "Fam2PatII" "00467362" "" "" "" "2" "" "00006" "{PMID:Jobling 2018:29599419}" "2-generation family, 2 affected sisters, unaffected non-carrier parents" "F" "" "Canada" "" "0" "" "" "" "Fam3PatI" "00467363" "" "" "00467362" "1" "" "00006" "{PMID:Jobling 2018:29599419}" "sister" "F" "" "Canada" "" "0" "" "" "" "Fam3PatII" "00467364" "" "" "" "1" "" "00006" "{PMID:Jobling 2018:29599419}" "2-generation family, 1 affected, unaffected carrier father" "F" "" "Canada" "" "0" "" "" "" "Fam4PatI" "00467365" "" "" "" "12" "" "00006" "{PMID:Bayat 2018:29660409}" "3-generation family, 12 affected (2F, 10M)" "M" "yes" "Denmark" "" "0" "" "" "Morocco" "family" "00467366" "" "" "" "1" "" "00006" "{PMID:Matuszewska 2018:29389715}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Poland" "" "0" "" "" "" "Pat1" "00467367" "" "" "" "1" "" "00006" "{PMID:Matuszewska 2018:29389715}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Poland" "" "0" "" "" "" "Pat2" "00467368" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467369" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467370" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "M" "" "Japan" "" "0" "" "" "" "" "00467371" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467372" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467373" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467374" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467375" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467376" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467377" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467378" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467379" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "M" "" "Japan" "" "0" "" "" "" "" "00467380" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" "00467381" "" "" "" "1" "" "02517" "{PMID:Negishi 2022:36220858}" "" "" "" "Japan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 85 "{{individualid}}" "{{diseaseid}}" "00001234" "00139" "00001608" "00138" "00001608" "00139" "00001609" "00139" "00001610" "00139" "00080892" "03999" "00146557" "00198" "00165095" "03999" "00165096" "03999" "00165097" "03999" "00165098" "03999" "00165099" "03999" "00165100" "03999" "00288209" "00198" "00291162" "00198" "00307207" "00385" "00307235" "00385" "00307237" "00385" "00314908" "00198" "00419466" "00198" "00428223" "00198" "00444047" "05324" "00457745" "00139" "00466179" "03999" "00467295" "00198" "00467311" "00198" "00467312" "00198" "00467313" "00198" "00467314" "00198" "00467315" "00198" "00467316" "00026" "00467317" "00026" "00467318" "00026" "00467319" "00026" "00467320" "00198" "00467321" "00198" "00467322" "00198" "00467323" "00198" "00467325" "05611" "00467326" "05611" "00467327" "05611" "00467328" "05611" "00467329" "05611" "00467330" "05611" "00467331" "05611" "00467332" "05611" "00467333" "05611" "00467334" "05611" "00467335" "05611" "00467336" "05611" "00467337" "05611" "00467338" "05611" "00467339" "05611" "00467340" "05611" "00467341" "05611" "00467342" "05611" "00467343" "05611" "00467352" "05611" "00467355" "05611" "00467356" "05611" "00467357" "05611" "00467358" "05611" "00467359" "00198" "00467360" "00198" "00467361" "00198" "00467362" "00198" "00467363" "00198" "00467364" "00198" "00467365" "03999" "00467366" "03999" "00467367" "03999" "00467368" "00198" "00467369" "00198" "00467370" "00198" "00467371" "00198" "00467372" "00198" "00467373" "00198" "00467374" "00198" "00467375" "00198" "00467376" "00198" "00467377" "00198" "00467378" "00198" "00467379" "00198" "00467380" "00198" "00467381" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00138, 00139, 00198, 00385, 03999, 05324, 05611 ## Count = 83 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000000778" "00139" "00001608" "00084" "Isolated (sporadic)" "08y" "neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde" "" "" "" "" "" "" "" "" "SHFYNG" "Prader Willi-like syndrome" "" "0000000779" "00139" "00001609" "00084" "Isolated (sporadic)" "05y" "feeding problems, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, short stature, eye abnormalities, behavioral issues, speech articulation deficits, skin picking, autism spectrum disorder, contractures of the distal interphalangeal joints" "" "" "" "" "" "" "" "" "SHFYNG" "Prader Willi-like syndrome" "" "0000000780" "00139" "00001610" "00084" "Isolated (sporadic)" "19y" "neonatal hypotonia with poor suck, feeding problems, hyperphagia, developmental delay, intellectual disability, infantile lethargy, short stature, small hands, narrow hands, behavioral issues, speech articulation deficits, skin picking, sleep apnea, autism spectrum disorder, contractures of the distal interphalangeal joints" "" "" "" "" "" "" "" "" "SHFYNG" "Prader Willi-like syndrome" "" "0000014892" "00139" "00001234" "00084" "Isolated (sporadic)" "13y" "acc. Patak-31397880 neonatal hypotonia with poor suck, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, autism spectrum disorder" "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi like syndrome" "" "0000060461" "03999" "00080892" "01758" "Isolated (sporadic)" "" "Schaaf-Yang syndrome (OMIM:615547)" "" "" "" "" "" "" "" "" "" "" "" "0000119298" "00198" "00146557" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Increased body weight (HP:0004324)" "" "" "" "" "" "" "" "" "" "" "" "0000129991" "03999" "00165096" "02517" "Isolated (sporadic)" "03y06m" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000129992" "03999" "00165097" "02517" "Isolated (sporadic)" "01y" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000129993" "03999" "00165100" "02517" "Familial, autosomal dominant" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000129995" "03999" "00165099" "02517" "Familial, autosomal dominant" "23y05m" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000129996" "03999" "00165095" "02517" "Isolated (sporadic)" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000130105" "03999" "00165098" "02517" "Isolated (sporadic)" "06y03m" "see paper; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi syndrome-like" "" "0000221946" "00198" "00288209" "00006" "Isolated (sporadic)" "4y" "overlapping digits, ventriculomegaly, strabismus, small hand, short foot, scoliosis, precocious puberty, polyhydramnios, panhypopituitarism, obstructive sleep apnea, nystagmus, noncommunicating hydrocephalus, muscular hypotonia of the trunk, microphthalmos, laryngomalacia, joint contracture of the hand, inferior oblique palsy, inability to walk, hypoxemia, hypopituitarism, hypocortisolemia, hypertonia, hydronephrosis, high palate, hand clenching, growth hormone deficiency, global developmental delay, frontal bossing, distal arthrogryposis, dilation of lateral ventricles, delayed visual maturation, craniosynostosis, complete duplication of thumb phalanx, chronic lung disease, central hypothyroidism, central diabetes insipidus, camptodactyly, adrenal insufficiency, absent speech, abnormality of the cerebral white matter, abnormal pupillary light reflex" "" "" "" "" "" "" "" "" "" "" "" "0000233012" "00385" "00307207" "00534" "Isolated (sporadic)" "" "antenatal onset; arthrogryposis multiplex congenita; flexion contracture (all major joints); hypertonia; elevated serum creatine kinase" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233040" "00385" "00307235" "00534" "Familial, autosomal dominant" "" "distal arthrogryposis; obstructive sleep apnea; bulbar signs; feeding difficulties" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000233042" "00385" "00307237" "00534" "Unknown" "" "elbow flexion contracture; flexion contracture of fingers and thumbs; hand clenching; torticollis" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000238666" "00198" "00314908" "00006" "Unknown" "2y" "Hypotonia, developmental delay (no vocalizations at 17 months, not walking), growth retardation, microcephaly, minor dysmorphisms (frontal bossing, slightly coarse appearance to the face, prominent lips, protruding simple ears), abnormal neurological screen at birth, bilateral cortical thumbing, bradycardia at birth, hypothyroidism diagnosed at 10 months." "1d" "" "" "" "" "" "" "" "" "" "" "0000310747" "00198" "00419466" "02300" "Isolated (sporadic)" "1y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000319135" "00198" "00428223" "00006" "Isolated (sporadic)" "9y" "reduced fetal movements; contractures elbows, wrists, fingers, talipes equinovarus (bilateral); large ears, premature craniosynostosis, camptodactyly, clinodactyly; intellectual disability, motor and speech developmental delay, muscular hypotonia, hypotrophy of shoulder muscles; hydronephrosis (bilateral), anal stenosis, laryngomalacia, scoliosis, strabismus" "" "" "" "" "" "" "" "" "SHFYNG" "fetal akinesia" "" "0000333304" "05324" "00444047" "00006" "Unknown" "" "calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive" "" "" "" "" "" "" "" "" "" "DMD" "" "0000346194" "00139" "00457745" "03544" "Isolated (sporadic)" "" "HP:0001249" "" "" "" "" "" "" "" "" "SHFYNG" "intellectual disability" "" "0000351566" "03999" "00466179" "03820" "Unknown" "" "Intellectual disability, Obesity" "" "" "" "" "" "" "" "" "" "" "" "0000352502" "00198" "00467295" "00006" "Familial, autosomal dominant" "" "acc. Patak-31397880 hypotonia, lethargic, hyperinsulemic, ptosis, exotropia, high palate, smooth philtrum, inverted nipples, short upper arms with decreased extension and wrist mobility, low muscle mass, increased fat distribution, autism spectrum disorder" "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi-like syndrome" "" "0000352518" "00198" "00467311" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal macrocephaly" "" "" "" "" "" "" "" "" "" "prenatal macrocephaly" "" "0000352519" "00198" "00467312" "00006" "Isolated (sporadic)" "" "see paper; ..., atrial septal defect, tracheomalacia, cleft palate, jaundice; developmental delay" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000352520" "00198" "00467313" "00006" "Isolated (sporadic)" "" "see paper; ..., birth hypotonic, poor suck, scarce spontaneous movements, required ventilator support (10d); developmental delay, growth delay" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000352521" "00198" "00467314" "00006" "Isolated (sporadic)" "" "see paper; ..., pregnancy polyhydramnios, decreased fetal movements; facial dysmorphism, prominent forehead, bitemporal narrowing, deep-set eyes, wide nasal bridge" "" "" "" "" "" "" "" "" "" "" "" "0000352522" "00198" "00467315" "00006" "Isolated (sporadic)" "" "see paper; ..., birth transferred to neonatal intensive care (3.5m), no cry, no move body/face/eyes" "" "" "" "" "" "" "" "" "" "" "" "0000352523" "00026" "00467316" "00006" "Familial, autosomal dominant" "" "see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "lethal arthrogryposis" "" "0000352524" "00026" "00467317" "00006" "Familial, autosomal dominant" "" "see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "lethal arthrogryposis" "" "0000352525" "00026" "00467318" "00006" "Familial, autosomal dominant" "" "see paper; ..., deceased-27wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "lethal arthrogryposis" "" "0000352526" "00026" "00467319" "00006" "Isolated (sporadic)" "" "see paper; ..., 2d-deceased; birth microretrognathia, short neck, bilateral camptodactyly third and fourth fingers, bilateral club foot, severe hypotonia, respiratory distress" "" "" "" "" "" "" "" "" "" "lethal arthrogryposis" "" "0000352527" "00198" "00467320" "00006" "Isolated (sporadic)" "19y" "see paper; ..., birth at term, caesarean section, weight 2.6 kg (34th centile), length 48 cm (49th centile), OFC 34 cm (61st centile), neonatal respiratory depression, hypotonia, contractures fingers/toes, less evident bilateral clubfoot; 1m-cardiopulmonary arrest, bradycardia; trigonocephaly due to premature metopic suture fusion; 2y-treated neurosurgically; feeding difficulties, oropharyngeal dysphagia, eats soft food/liquids (nothing solid)" "" "" "" "" "" "" "" "" "" "Opitz trigonocephaly C syndrome" "" "0000352528" "00198" "00467321" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Opitz trigonocephaly C syndrome" "" "0000352529" "00198" "00467322" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Opitz trigonocephaly C syndrome" "" "0000352530" "00198" "00467323" "00006" "Familial, autosomal dominant" "" "acc. Patak-31397880 apnea, bradycardia, poor feeding, hyperinsulinemic, seizures, hypotonia, interphalangeal contractures, facial dysmorphia, global developmental delay, autism spectrum disorder" "" "" "" "" "" "" "" "" "SHFYNG" "Prader-Willi-like syndrome" "" "0000352532" "05611" "00467325" "00006" "Familial" "15y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; decreased fetal movement; gastroesophageal reflux; no excessive weight gain; temperature instability; scoliosis/kyphosis; chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352533" "05611" "00467326" "00006" "Familial" "6y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; no behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; normal feet; no short stature; normal fetal movement; no gastroesophageal reflux; no excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352534" "05611" "00467327" "00006" "Familial" "10y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia; hypotonia; no feeding problems; no neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; no gastroesophageal reflux; no excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352535" "05611" "00467328" "00006" "Isolated (sporadic)" "1y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; decreased fetal movement; gastroesophageal reflux; no excessive weight gain; temperature instability; no scoliosis; chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352536" "05611" "00467329" "00006" "Familial" "<0d" "see paper; ..., fetal akinesia, contractures; dysmorphic facial features; no hypogonadism; normal feet; no short stature; decreased fetal movement; no scoliosis" "" "" "" "" "" "" "" "" "SHFYNG" "fetal akinesia" "" "0000352537" "05611" "00467330" "00006" "Familial" "<0d" "see paper; ..., contractures; dysmorphic facial features; no hypogonadism; normal feet; no short stature; decreased fetal movement; no scoliosis" "" "" "" "" "" "" "" "" "SHFYNG" "fetal akinesia" "" "0000352538" "05611" "00467331" "00006" "Isolated (sporadic)" "10y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; small feet; no short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; no scoliosis; chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352539" "05611" "00467332" "00006" "Familial" "8y" "see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; no dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; temperature instability; scoliosis/kyphosis; no chronic constipation; seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352540" "05611" "00467333" "00006" "Isolated (sporadic)" "1y" "see paper; ..., no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; no small hands; sleep apnea; normal feet; short stature; normal fetal movement; no gastroesophageal reflux; excessive weight gain; no temperature instability; scoliosis/kyphosis; no chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "" "" "0000352541" "05611" "00467334" "00006" "Isolated (sporadic)" "10y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; no small hands; sleep apnea; normal feet; short stature; decreased fetal movement; no gastroesophageal reflux; no excessive weight gain; temperature instability; scoliosis/kyphosis; no chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352542" "05611" "00467335" "00006" "Unknown" "14y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; small feet; short stature; normal fetal movement; gastroesophageal reflux; excessive weight gain; no temperature instability; no scoliosis; no chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352543" "05611" "00467336" "00006" "Isolated (sporadic)" "1y" "see paper; ..., developmental delay, intellectual disability; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; sleep apnea; normal feet; no short stature; normal fetal movement; gastroesophageal reflux; no excessive weight gain; no temperature instability; no chronic constipation" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352544" "05611" "00467337" "00006" "Unknown" "7y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); no skin picking/automutilation; hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; no contractures; no dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); no hypogonadism; small hands; sleep apnea; small feet; no short stature; normal fetal movement; gastroesophageal reflux; excessive weight gain; temperature instability; scoliosis/kyphosis; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352545" "05611" "00467338" "00006" "Unknown" "13y" "see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia;  ; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; no sleep apnea; normal feet; short stature; normal fetal movement; gastroesophageal reflux; no excessive weight gain; no temperature instability; scoliosis/kyphosis; chronic constipation; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352546" "05611" "00467339" "00006" "Isolated (sporadic)" "6y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder; behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); small hands; no sleep apnea; short stature; gastroesophageal reflux; temperature instability" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352547" "05611" "00467340" "00006" "Familial" "9m" "see paper; ..., 9m-deceased; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; no hypogonadism;  ; gastroesophageal reflux" "" "" "" "" "" "" "" "" "SHFYNG" "" "" "0000352548" "05611" "00467341" "00006" "Familial" "15y" "see paper; ..., developmental delay, intellectual disability; autism spectrum disorder;  ; feeding problems, need for special feeding technique; contractures; dysmorphic facial features; hypogonadism; no sleep apnea; short stature;  ; seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352549" "05611" "00467342" "00006" "Familial" "20y" "see paper; ..., developmental delay, intellectual disability; no autism spectrum disorder; no behavioral abnormalities (impulsivity, compulsivity, stubbornness, manipulative); skin picking/automutilation; no hyperphagia; hypotonia; feeding problems, need for special feeding technique; neonatal hypotonia; contractures; dysmorphic facial features; eye abnormalities (esotropia, myopia, strabismus); hypogonadism; small hands; no sleep apnea; small feet; decreased fetal movement; no excessive weight gain; no temperature instability; scoliosis/kyphosis; no seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352550" "05611" "00467343" "00006" "Isolated (sporadic)" "07y" "acc. Patak-31397880 hypothyroidism, hyperprolactinemia, short stature, rounded facies, micrognathia, broad forehead, strabismus, tapering fingers, hypotonia, muscle atrophy, difficulty swallowing, GERD, recurring abdominal pain crises, gastric volvulus requiring surgery, autism spectrum disorder, global developmental delay, growth hormone deficiency" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental disorder" "" "0000352559" "05611" "00467352" "00006" "Familial" "" "developmental delay, multiple joint contractures, muscular hypotonia, speech articulation difficulties, feeding difficulties in infancy, hypoglycemia, dyspnea" "1y" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental delay, dyspnea" "" "0000352562" "05611" "00467355" "00006" "Isolated (sporadic)" "" "developmental delay, multiple joint contractures, muscular hypotonia, sleep apnea, feeding difficulties in infancy, abnormality of the skin, dysmorphic facial features" "1m" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental delay, dyspnea" "" "0000352563" "05611" "00467356" "00006" "Familial" "6y" "see paper; ..., weak cry, hypotonia, poor feeding, poor suck, respiratory failure, almond-shaped palpebral fissure, depressed nasal root, flattened philtrum, micrognathia, camptodactyly fingers, tracheal stoma issues, white matter atrophy, global developmental delay" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental delay, dyspnea" "" "0000352564" "05611" "00467357" "00006" "Familial" "1y" "see paper; ..., breech presentation, hypotonia, poor suck, respiratory failure, high palate, micrognathia, camptodactyly fingers, micropenis, cryptorchidism, polyuria, hyposthesnuria, hypernatremia, idiopathic diabetes insipidus, tracheal stoma issues, seizures" "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental delay, dyspnea" "" "0000352565" "05611" "00467358" "00006" "Isolated (sporadic)" "15y" "see paper; ..., fetal distress, respiratory failure, hypotonia, poor suck, cleft palate, micrognathia, camptodactyly, scoliosis, bilateral club foot, growth delay, panhypopituitarism, pituitary hypoplasia, global developmental delay, autism spectrum disorder, coarse facies, hypertelorism, thick eye brows, broad nasal root, seizures." "" "" "" "" "" "" "" "" "SHFYNG" "neurodevelopmental delay, dyspnea" "" "0000352566" "00198" "00467359" "00006" "Familial" "35y" "see paper; ..., short stature; infancy increased subcutaneous fat, current BMI 19.4; moderate developmental delay, moderate intellectual disability; no eye anomalies; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; no hypoglycaemic episodes; growth hormone deficiency; hypothyroidism; hypotonia" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352567" "00198" "00467360" "00006" "Unknown" "13y" "see paper; ..., short stature; developmental delay, intellectual disability; nystagmus, microcornea, glaucoma; dysmorphisms; patent foramen ovale; no feeding problems; no gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI early myelination delay, hypothalamic hypoplasia" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352568" "00198" "00467361" "00006" "Unknown" "11y" "see paper; ..., short stature; developmental delay, intellectual disability; nystagmus, microcornea; dysmorphisms; no heart defect; no feeding problems; no gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI hypersignal pituitary stalk" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352569" "00198" "00467362" "00006" "Isolated (sporadic)" "10y" "see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; no eye anomalies; dysmorphisms; atrial septal defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI frontal volume loss, decreased pituitary size" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352570" "00198" "00467363" "00006" "Isolated (sporadic)" "8y" "see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; no eye anomalies; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352571" "00198" "00467364" "00006" "Familial" "6y" "see paper; ..., short stature; increased subcutaneous fat; severe developmental delay, severe intellectual disability; myopia, hyperopia, exotropia; dysmorphisms; no heart defect; feeding problems; gastro-oesophageal reflux; contractures; scoliosis/kyphosis; hypoglycaemic episodes; growth hormone deficiency; no hypothyroidism; hypotonia; MRI thin pituitary stalk, dilatation third ventricle possibly due to hypothalamic atrophy, ventriculomegaly" "" "" "" "" "" "" "" "" "SHFYNG" "Chitayat-Hall syndrome" "" "0000352572" "03999" "00467365" "00006" "Familial" "01y02m" "see paper; ..., neonatal hypotonia, feeding difficulties, developmental delay, hypogonadismand distal contractures" "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf-Yang syndrome" "" "0000352573" "03999" "00467366" "00006" "Isolated (sporadic)" "5y" "acc. Patak-31397880 arthrogryposis, hypomimia, high nasal bridge, micrognathia, bitemporal narrowing, high palate, prominent chin, low-set ears, epicanthic fold, club foot, respiratory distress, poor suck, open mouth, developmental delay, autism spectrum disorder, psychomotor delay, short stature" "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352574" "03999" "00467367" "00006" "Isolated (sporadic)" "9m" "acc. Patak-31397880 polyhydraominos, respiratory failure, apnea, hypotonia, tracheal stoma issues, poor suck, distal arthrogryposis, up-slanting palpebral fissures, bitemporal narrowing, high nasal bridge, low-set ears, prominent chin, micrognathia, developmental delay, autism spectrum disorder" "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352575" "00198" "00467368" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352576" "00198" "00467369" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352577" "00198" "00467370" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352578" "00198" "00467371" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352579" "00198" "00467372" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352580" "00198" "00467373" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352581" "00198" "00467374" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352582" "00198" "00467375" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352583" "00198" "00467376" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352584" "00198" "00467377" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352585" "00198" "00467378" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352586" "00198" "00467379" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352587" "00198" "00467380" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" "0000352588" "00198" "00467381" "02517" "Unknown" "" "neonatal hypotonia; poor suck in infancy (often requiring tube feeding); developmental delay; distal joint contractures; ..." "" "" "" "" "" "" "" "" "SHFYNG" "Schaaf‐Yang syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001001" "00001234" "1" "00084" "00084" "2013-06-04 18:08:59" "00006" "2025-10-10 18:05:36" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000001409" "00001608" "1" "00084" "00084" "2013-07-10 20:28:56" "" "" "SEQ" "DNA" "" "" "0000001410" "00001609" "1" "00084" "00084" "2013-07-10 21:01:11" "" "" "SEQ" "DNA" "" "" "0000001411" "00001610" "1" "00084" "00084" "2013-07-10 21:08:36" "" "" "SEQ" "DNA" "" "" "0000081004" "00080892" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000147412" "00146557" "0" "01807" "01807" "2017-12-29 11:26:18" "" "" "SEQ" "DNA" "" "" "0000165967" "00165095" "1" "02517" "02517" "2018-06-25 13:39:10" "" "" "PCRm" "DNA" "blood" "" "0000165969" "00165096" "1" "02517" "02517" "2018-06-25 14:08:41" "02517" "2018-06-26 10:12:16" "PCRm" "DNA" "blood" "" "0000165970" "00165097" "1" "02517" "02517" "2018-06-25 14:31:56" "" "" "PCRm" "DNA" "blood" "" "0000165971" "00165098" "1" "02517" "02517" "2018-06-25 14:34:42" "" "" "PCRm" "DNA" "blood" "" "0000165972" "00165099" "1" "02517" "02517" "2018-06-25 14:37:08" "" "" "PCRm" "DNA" "blood" "" "0000165973" "00165100" "1" "02517" "02517" "2018-06-25 14:42:30" "" "" "PCRm" "DNA" "blood" "" "0000289378" "00288209" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000292330" "00291162" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308349" "00307207" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308377" "00307235" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000308379" "00307237" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000316082" "00314908" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000420770" "00419466" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429634" "00428223" "1" "00006" "00006" "2022-12-24 16:09:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445544" "00444047" "1" "00006" "00006" "2023-12-11 17:21:28" "" "" "PCRm;SEQ-NG" "DNA" "" "WES" "0000459365" "00457745" "1" "03544" "03544" "2024-11-18 08:59:09" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467837" "00466179" "1" "03820" "03820" "2025-08-06 15:19:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000468958" "00467295" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468974" "00467311" "1" "00006" "00006" "2025-10-10 16:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468975" "00467312" "1" "00006" "00006" "2025-10-10 16:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468976" "00467313" "1" "00006" "00006" "2025-10-10 16:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468977" "00467314" "1" "00006" "00006" "2025-10-10 16:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468978" "00467315" "1" "00006" "00006" "2025-10-10 16:51:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468979" "00467316" "1" "00006" "00006" "2025-10-10 17:20:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468980" "00467317" "1" "00006" "00006" "2025-10-10 17:20:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468981" "00467318" "1" "00006" "00006" "2025-10-10 17:20:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468982" "00467319" "1" "00006" "00006" "2025-10-10 17:20:40" "" "" "SEQ" "DNA" "" "" "0000468983" "00467320" "1" "00006" "00006" "2025-10-10 17:43:34" "" "" "SEQ" "DNA" "" "WES" "0000468984" "00467321" "1" "00006" "00006" "2025-10-10 17:48:05" "" "" "SEQ" "DNA" "" "" "0000468985" "00467322" "1" "00006" "00006" "2025-10-10 17:50:26" "" "" "SEQ" "DNA" "" "" "0000468986" "00467323" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468988" "00467325" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468989" "00467326" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468990" "00467327" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468991" "00467328" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468992" "00467329" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468993" "00467330" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468994" "00467331" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468995" "00467332" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468996" "00467333" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468997" "00467334" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468998" "00467335" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468999" "00467336" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469000" "00467337" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469001" "00467338" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469002" "00467339" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469003" "00467340" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469004" "00467341" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469005" "00467342" "1" "00006" "00006" "2025-10-12 13:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469006" "00467343" "1" "00006" "00006" "2025-10-12 13:57:29" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000469015" "00467352" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469018" "00467355" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469019" "00467356" "1" "00006" "00006" "2025-10-12 14:59:42" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469020" "00467357" "1" "00006" "00006" "2025-10-12 14:59:42" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469021" "00467358" "1" "00006" "00006" "2025-10-12 14:59:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469022" "00467359" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WGS" "0000469023" "00467360" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469024" "00467361" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469025" "00467362" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469026" "00467363" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469027" "00467364" "1" "00006" "00006" "2025-10-12 15:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469028" "00467365" "1" "00006" "00006" "2025-10-12 16:08:13" "00006" "2025-10-12 16:11:03" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000469029" "00467366" "1" "00006" "00006" "2025-10-12 16:28:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469030" "00467367" "1" "00006" "00006" "2025-10-12 16:28:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469031" "00467368" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469032" "00467369" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469033" "00467370" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469034" "00467371" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469035" "00467372" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469036" "00467373" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469037" "00467374" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469038" "00467375" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469039" "00467376" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469040" "00467377" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469041" "00467378" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469042" "00467379" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469043" "00467380" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" "0000469044" "00467381" "1" "02517" "00006" "2025-10-12 17:31:43" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000001001" "MAGEL2" "0000001409" "MAGEL2" "0000001410" "MAGEL2" "0000001411" "MAGEL2" "0000081004" "MAGEL2" "0000165967" "MAGEL2" "0000165969" "MAGEL2" "0000165970" "MAGEL2" "0000165971" "MAGEL2" "0000165972" "MAGEL2" "0000165973" "MAGEL2" "0000289378" "MAGEL2" "0000308349" "MAGEL2" "0000308377" "MAGEL2" "0000308379" "MAGEL2" "0000316082" "MAGEL2" "0000445544" "DMD" "0000468982" "MAGEL2" "0000468984" "MAGEL2" "0000468985" "MAGEL2" "0000469028" "MAGEL2" "0000469031" "MAGEL2" "0000469032" "MAGEL2" "0000469033" "MAGEL2" "0000469034" "MAGEL2" "0000469035" "MAGEL2" "0000469036" "MAGEL2" "0000469037" "MAGEL2" "0000469038" "MAGEL2" "0000469039" "MAGEL2" "0000469040" "MAGEL2" "0000469041" "MAGEL2" "0000469042" "MAGEL2" "0000469043" "MAGEL2" "0000469044" "MAGEL2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 424 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000018075" "11" "95" "15" "23891238" "23891238" "del" "0" "00084" "MAGEL2_000001" "g.23891238del" "" "{PMID:Schaaf 2013:24076603}" "" "" "" "De novo" "" "" "0" "" "" "g.23646091del" "" "pathogenic" "" "0000019146" "11" "95" "15" "23891089" "23891089" "del" "0" "00084" "MAGEL2_000002" "g.23891089del" "" "{PMID:Schaaf 2013:24076603}" "" "" "possibly de novo (not maternal)" "Unknown" "yes" "" "0" "" "" "g.23645942del" "" "pathogenic" "" "0000019147" "11" "95" "15" "23889710" "23889711" "del" "0" "00084" "MAGEL2_000003" "g.23889710_23889711del" "" "{PMID:Schaaf 2013:24076603}" "" "" "" "De novo" "" "" "0" "" "" "g.23644563_23644564del" "" "pathogenic" "" "0000019148" "11" "95" "15" "23889766" "23889766" "subst" "0" "00084" "MAGEL2_000004" "g.23889766G>A" "" "{PMID:Schaaf 2013:24076603}" "" "" "" "De novo" "" "" "0" "" "" "g.23644619G>A" "" "pathogenic" "" "0000130090" "0" "90" "15" "23890900" "23890900" "dup" "0" "01758" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "ACMG" "0000240208" "0" "90" "15" "23891091" "23891091" "del" "0" "01807" "MAGEL2_000006" "g.23891091del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23645944del" "" "pathogenic" "" "0000253510" "0" "10" "15" "23891444" "23891444" "subst" "0.0011885" "01943" "MAGEL2_000036" "g.23891444A>G" "" "" "" "MAGEL2(NM_019066.4):c.1446T>C (p.A482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646297A>G" "" "benign" "" "0000253538" "0" "10" "15" "23892212" "23892212" "subst" "0.0011475" "01943" "MAGEL2_000061" "g.23892212A>C" "" "" "" "MAGEL2(NM_019066.4):c.678T>G (p.G226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647065A>C" "" "benign" "" "0000254869" "0" "30" "15" "23891846" "23891846" "subst" "0" "01943" "MAGEL2_000052" "g.23891846A>G" "" "" "" "MAGEL2(NM_019066.4):c.1044T>C (p.P348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646699A>G" "" "likely benign" "" "0000254879" "0" "30" "15" "23892707" "23892707" "subst" "0.000196389" "01943" "MAGEL2_000073" "g.23892707A>G" "" "" "" "MAGEL2(NM_019066.4):c.183T>C (p.P61=), MAGEL2(NM_019066.5):c.183T>C (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647560A>G" "" "likely benign" "" "0000254962" "0" "30" "15" "23889878" "23889878" "subst" "0.00095047" "01943" "MAGEL2_000014" "g.23889878A>G" "" "" "" "MAGEL2(NM_019066.4):c.3012T>C (p.S1004=), MAGEL2(NM_019066.5):c.3012T>C (p.S1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644731A>G" "" "likely benign" "" "0000279543" "0" "30" "15" "23890609" "23890609" "subst" "0.000735653" "02330" "MAGEL2_000031" "g.23890609C>G" "" "" "" "MAGEL2(NM_019066.4):c.2281G>C (p.A761P, p.(Ala761Pro)), MAGEL2(NM_019066.5):c.2281G>C (p.A761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645462C>G" "" "likely benign" "" "0000279545" "0" "10" "15" "23889873" "23889873" "subst" "0.00336724" "02330" "MAGEL2_000013" "g.23889873G>C" "" "" "" "MAGEL2(NM_019066.4):c.3017C>G (p.T1006S, p.(Thr1006Ser)), MAGEL2(NM_019066.5):c.3017C>G (p.T1006S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644726G>C" "" "benign" "" "0000282356" "0" "50" "15" "23892299" "23892328" "del" "0" "02325" "MAGEL2_000062" "g.23892299_23892328del" "" "" "" "MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647152_23647181del" "" "VUS" "" "0000286069" "0" "10" "15" "23891852" "23891852" "subst" "0.001025" "02326" "MAGEL2_000053" "g.23891852C>G" "" "" "" "MAGEL2(NM_019066.4):c.1038G>C (p.(Arg346Ser)), MAGEL2(NM_019066.5):c.1038G>C (p.R346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646705C>G" "" "benign" "" "0000286070" "0" "10" "15" "23891811" "23891811" "subst" "0.00564196" "02326" "MAGEL2_000050" "g.23891811G>A" "" "" "" "MAGEL2(NM_019066.4):c.1079C>T (p.(Ala360Val)), MAGEL2(NM_019066.5):c.1079C>T (p.A360V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646664G>A" "" "benign" "" "0000286071" "0" "30" "15" "23891670" "23891670" "subst" "0" "02326" "MAGEL2_000047" "g.23891670G>A" "" "" "" "MAGEL2(NM_019066.5):c.1220C>T (p.P407L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646523G>A" "" "likely benign" "" "0000286072" "0" "30" "15" "23891604" "23891604" "subst" "0.00318574" "02326" "MAGEL2_000045" "g.23891604G>A" "" "" "" "MAGEL2(NM_019066.4):c.1286C>T (p.P429L, p.(Pro429Leu)), MAGEL2(NM_019066.5):c.1286C>T (p.P429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646457G>A" "" "likely benign" "" "0000286073" "0" "30" "15" "23891586" "23891586" "subst" "0.00492865" "02326" "MAGEL2_000044" "g.23891586G>A" "" "" "" "MAGEL2(NM_019066.4):c.1304C>T (p.P435L, p.(Pro435Leu)), MAGEL2(NM_019066.5):c.1304C>T (p.P435L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646439G>A" "" "likely benign" "" "0000286074" "0" "10" "15" "23891503" "23891503" "subst" "0.0477683" "02326" "MAGEL2_000040" "g.23891503C>G" "" "" "" "MAGEL2(NM_019066.4):c.1387G>C (p.(Ala463Pro)), MAGEL2(NM_019066.5):c.1387G>C (p.A463P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646356C>G" "" "benign" "" "0000286075" "0" "30" "15" "23890609" "23890609" "subst" "0.000735653" "02326" "MAGEL2_000031" "g.23890609C>G" "" "" "" "MAGEL2(NM_019066.4):c.2281G>C (p.A761P, p.(Ala761Pro)), MAGEL2(NM_019066.5):c.2281G>C (p.A761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645462C>G" "" "likely benign" "" "0000286076" "0" "30" "15" "23890600" "23890600" "subst" "0.000699107" "02326" "MAGEL2_000030" "g.23890600C>T" "" "" "" "MAGEL2(NM_019066.4):c.2290G>A (p.A764T), MAGEL2(NM_019066.5):c.2290G>A (p.A764T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645453C>T" "" "likely benign" "" "0000286077" "0" "30" "15" "23890279" "23890279" "subst" "0.0021499" "02326" "MAGEL2_000024" "g.23890279C>A" "" "" "" "MAGEL2(NM_019066.5):c.2611G>T (p.A871S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645132C>A" "" "likely benign" "" "0000286078" "0" "30" "15" "23890278" "23890278" "subst" "0.00214986" "02326" "MAGEL2_000023" "g.23890278G>A" "" "" "" "MAGEL2(NM_019066.5):c.2612C>T (p.A871V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645131G>A" "" "likely benign" "" "0000286079" "0" "10" "15" "23890257" "23890257" "subst" "0.00128825" "02326" "MAGEL2_000022" "g.23890257G>A" "" "" "" "MAGEL2(NM_019066.4):c.2633C>T (p.P878L, p.(Pro878Leu)), MAGEL2(NM_019066.5):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645110G>A" "" "benign" "" "0000286080" "0" "10" "15" "23889873" "23889873" "subst" "0.00336724" "02326" "MAGEL2_000013" "g.23889873G>C" "" "" "" "MAGEL2(NM_019066.4):c.3017C>G (p.T1006S, p.(Thr1006Ser)), MAGEL2(NM_019066.5):c.3017C>G (p.T1006S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644726G>C" "" "benign" "" "0000286081" "0" "10" "15" "23889739" "23889739" "subst" "0.0313713" "02326" "MAGEL2_000012" "g.23889739G>T" "" "" "" "MAGEL2(NM_019066.4):c.3151C>A (p.(Leu1051Ile)), MAGEL2(NM_019066.5):c.3151C>A (p.L1051I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644592G>T" "" "benign" "" "0000286082" "0" "30" "15" "23891989" "23891989" "subst" "0.00259942" "02326" "MAGEL2_000056" "g.23891989G>A" "" "" "" "MAGEL2(NM_019066.4):c.901C>T (p.(Pro301Ser)), MAGEL2(NM_019066.5):c.901C>T (p.P301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646842G>A" "" "likely benign" "" "0000286083" "0" "30" "15" "23891971" "23891971" "subst" "0.000606832" "02326" "MAGEL2_000055" "g.23891971G>A" "" "" "" "MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646824G>A" "" "likely benign" "" "0000291363" "0" "50" "15" "23891818" "23891818" "subst" "9.0082E-6" "01943" "MAGEL2_000051" "g.23891818G>T" "" "" "" "MAGEL2(NM_019066.4):c.1072C>A (p.P358T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646671G>T" "" "VUS" "" "0000291364" "0" "50" "15" "23891715" "23891715" "subst" "0.000755613" "01943" "MAGEL2_000049" "g.23891715G>A" "" "" "" "MAGEL2(NM_019066.4):c.1175C>T (p.T392M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646568G>A" "" "VUS" "" "0000291365" "0" "30" "15" "23891711" "23891711" "subst" "0" "01943" "MAGEL2_000048" "g.23891711C>T" "" "" "" "MAGEL2(NM_019066.4):c.1179G>A (p.Q393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646564C>T" "" "likely benign" "" "0000291366" "0" "30" "15" "23891604" "23891604" "subst" "0.00318574" "01943" "MAGEL2_000045" "g.23891604G>A" "" "" "" "MAGEL2(NM_019066.4):c.1286C>T (p.P429L, p.(Pro429Leu)), MAGEL2(NM_019066.5):c.1286C>T (p.P429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646457G>A" "" "likely benign" "" "0000291367" "0" "30" "15" "23891543" "23891563" "del" "0" "01943" "MAGEL2_000041" "g.23891543_23891563del" "" "" "" "MAGEL2(NM_019066.4):c.1365_1385del (p.(Pro456_Pro462del)), MAGEL2(NM_019066.4):c.1365_1385delACCCGTGATCCGCCAGGCCCC (p.P456_P462del), MAGEL2(NM_019...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646396_23646416del" "" "likely benign" "" "0000291368" "0" "30" "15" "23891486" "23891486" "subst" "0.000489647" "01943" "MAGEL2_000038" "g.23891486G>T" "" "" "" "MAGEL2(NM_019066.4):c.1404C>A (p.A468=), MAGEL2(NM_019066.5):c.1404C>A (p.A468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646339G>T" "" "likely benign" "" "0000291369" "0" "30" "15" "23892722" "23892722" "subst" "2.24729E-5" "01943" "MAGEL2_000074" "g.23892722G>A" "" "" "" "MAGEL2(NM_019066.4):c.168C>T (p.A56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647575G>A" "" "likely benign" "" "0000291370" "0" "10" "15" "23890816" "23890816" "subst" "0.00384543" "01943" "MAGEL2_000033" "g.23890816C>T" "" "" "" "MAGEL2(NM_019066.4):c.2074G>A (p.V692I, p.(Val692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645669C>T" "" "benign" "" "0000291371" "0" "30" "15" "23892665" "23892665" "subst" "0.00160284" "01943" "MAGEL2_000072" "g.23892665C>T" "" "" "" "MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647518C>T" "" "likely benign" "" "0000291372" "0" "50" "15" "23890473" "23890473" "subst" "3.24913E-5" "01943" "MAGEL2_000027" "g.23890473C>T" "" "" "" "MAGEL2(NM_019066.4):c.2417G>A (p.G806D, p.(Gly806Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645326C>T" "" "VUS" "" "0000291373" "0" "50" "15" "23890434" "23890434" "subst" "8.12249E-6" "01943" "MAGEL2_000026" "g.23890434T>C" "" "" "" "MAGEL2(NM_019066.4):c.2456A>G (p.Y819C, p.(Tyr819Cys)), MAGEL2(NM_019066.5):c.2456A>G (p.Y819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645287T>C" "" "VUS" "" "0000291374" "0" "50" "15" "23890299" "23890299" "subst" "0" "01943" "MAGEL2_000025" "g.23890299G>T" "" "" "" "MAGEL2(NM_019066.4):c.2591C>A (p.A864E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645152G>T" "" "VUS" "" "0000291375" "0" "10" "15" "23890198" "23890198" "subst" "0.00125896" "01943" "MAGEL2_000021" "g.23890198T>C" "" "" "" "MAGEL2(NM_019066.4):c.2692A>G (p.S898G, p.(Ser898Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645051T>C" "" "benign" "" "0000291376" "0" "50" "15" "23890185" "23890185" "subst" "5.28013E-5" "01943" "MAGEL2_000020" "g.23890185G>A" "" "" "" "MAGEL2(NM_019066.4):c.2705C>T (p.T902M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645038G>A" "" "VUS" "" "0000291377" "0" "30" "15" "23890106" "23890106" "subst" "0.00228368" "01943" "MAGEL2_000019" "g.23890106G>A" "" "" "" "MAGEL2(NM_019066.4):c.2784C>T (p.I928=), MAGEL2(NM_019066.5):c.2784C>T (p.I928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644959G>A" "" "likely benign" "" "0000291378" "0" "30" "15" "23889983" "23890054" "del" "0" "01943" "MAGEL2_000016" "g.23889983_23890054del" "" "" "" "MAGEL2(NM_019066.4):c.2847_2918del (p.I954_R977del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644836_23644907del" "" "likely benign" "" "0000291379" "0" "30" "15" "23890004" "23890004" "subst" "0.00544823" "01943" "MAGEL2_000017" "g.23890004G>A" "" "" "" "MAGEL2(NM_019066.4):c.2886C>T (p.S962=), MAGEL2(NM_019066.5):c.2886C>T (p.S962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644857G>A" "" "likely benign" "" "0000291380" "0" "30" "15" "23889873" "23889873" "subst" "0.00336724" "01943" "MAGEL2_000013" "g.23889873G>C" "" "" "" "MAGEL2(NM_019066.4):c.3017C>G (p.T1006S, p.(Thr1006Ser)), MAGEL2(NM_019066.5):c.3017C>G (p.T1006S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644726G>C" "" "likely benign" "" "0000291381" "0" "30" "15" "23889278" "23889278" "subst" "6.09206E-5" "01943" "MAGEL2_000011" "g.23889278G>C" "" "" "" "MAGEL2(NM_019066.4):c.3612C>G (p.L1204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644131G>C" "" "likely benign" "" "0000291382" "0" "30" "15" "23889200" "23889200" "subst" "0.000256699" "01943" "MAGEL2_000009" "g.23889200C>G" "" "" "" "MAGEL2(NM_019066.4):c.3690G>C (p.E1230D), MAGEL2(NM_019066.5):c.3690G>C (p.E1230D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644053C>G" "" "likely benign" "" "0000291383" "0" "30" "15" "23889186" "23889186" "subst" "0" "01943" "MAGEL2_000008" "g.23889186G>A" "" "" "" "MAGEL2(NM_019066.4):c.3704C>T (p.T1235I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644039G>A" "" "likely benign" "" "0000291384" "0" "30" "15" "23892505" "23892505" "subst" "0.000977467" "01943" "MAGEL2_000069" "g.23892505T>C" "" "" "" "MAGEL2(NM_019066.4):c.385A>G (p.M129V), MAGEL2(NM_019066.5):c.385A>G (p.M129V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647358T>C" "" "likely benign" "" "0000291385" "0" "30" "15" "23892437" "23892437" "subst" "7.42126E-6" "01943" "MAGEL2_000068" "g.23892437G>A" "" "" "" "MAGEL2(NM_019066.4):c.453C>T (p.H151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647290G>A" "" "likely benign" "" "0000291386" "0" "30" "15" "23892431" "23892431" "subst" "0" "01943" "MAGEL2_000067" "g.23892431G>A" "" "" "" "MAGEL2(NM_019066.4):c.459C>T (p.P153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647284G>A" "" "likely benign" "" "0000291387" "0" "30" "15" "23892416" "23892416" "subst" "2.30083E-5" "01943" "MAGEL2_000066" "g.23892416T>C" "" "" "" "MAGEL2(NM_019066.4):c.474A>G (p.P158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647269T>C" "" "likely benign" "" "0000291388" "0" "30" "15" "23892386" "23892386" "subst" "1.57754E-5" "01943" "MAGEL2_000065" "g.23892386C>T" "" "" "" "MAGEL2(NM_019066.4):c.504G>A (p.P168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647239C>T" "" "likely benign" "" "0000291389" "0" "30" "15" "23892380" "23892380" "subst" "2.3858E-5" "01943" "MAGEL2_000063" "g.23892380G>C" "" "" "" "MAGEL2(NM_019066.4):c.510C>G (p.A170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647233G>C" "" "likely benign" "" "0000291390" "0" "10" "15" "23892037" "23892037" "subst" "0.00367443" "01943" "MAGEL2_000057" "g.23892037C>T" "" "" "" "MAGEL2(NM_019066.4):c.853G>A (p.G285R, p.(Gly285Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646890C>T" "" "benign" "" "0000323900" "0" "30" "15" "23889873" "23889873" "subst" "0.00336724" "01804" "MAGEL2_000013" "g.23889873G>C" "" "" "" "MAGEL2(NM_019066.4):c.3017C>G (p.T1006S, p.(Thr1006Ser)), MAGEL2(NM_019066.5):c.3017C>G (p.T1006S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644726G>C" "" "likely benign" "" "0000323902" "0" "50" "15" "23890198" "23890198" "subst" "0.00125896" "01804" "MAGEL2_000021" "g.23890198T>C" "" "" "" "MAGEL2(NM_019066.4):c.2692A>G (p.S898G, p.(Ser898Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645051T>C" "" "VUS" "" "0000323903" "0" "30" "15" "23890257" "23890257" "subst" "0.00128825" "01804" "MAGEL2_000022" "g.23890257G>A" "" "" "" "MAGEL2(NM_019066.4):c.2633C>T (p.P878L, p.(Pro878Leu)), MAGEL2(NM_019066.5):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645110G>A" "" "likely benign" "" "0000323904" "0" "50" "15" "23890473" "23890473" "subst" "3.24913E-5" "01804" "MAGEL2_000027" "g.23890473C>T" "" "" "" "MAGEL2(NM_019066.4):c.2417G>A (p.G806D, p.(Gly806Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645326C>T" "" "VUS" "" "0000323905" "0" "50" "15" "23890482" "23890482" "subst" "0.000101534" "01804" "MAGEL2_000028" "g.23890482G>T" "" "" "" "MAGEL2(NM_019066.4):c.2408C>A (p.(Ala803Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645335G>T" "" "VUS" "" "0000323906" "0" "50" "15" "23890528" "23890528" "subst" "0.000146261" "01804" "MAGEL2_000029" "g.23890528T>A" "" "" "" "MAGEL2(NM_019066.4):c.2362A>T (p.S788C, p.(Ser788Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645381T>A" "" "VUS" "" "0000323907" "0" "50" "15" "23890794" "23890794" "subst" "0" "01804" "MAGEL2_000032" "g.23890794G>A" "" "" "" "MAGEL2(NM_019066.4):c.2096C>T (p.(Pro699Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645647G>A" "" "VUS" "" "0000323908" "0" "30" "15" "23890816" "23890816" "subst" "0.00384543" "01804" "MAGEL2_000033" "g.23890816C>T" "" "" "" "MAGEL2(NM_019066.4):c.2074G>A (p.V692I, p.(Val692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645669C>T" "" "likely benign" "" "0000323909" "0" "90" "15" "23890900" "23890900" "dup" "0" "01804" "MAGEL2_000034" "g.23890900dup" "" "" "" "MAGEL2(NM_019066.4):c.1996_1997insC (p.?), MAGEL2(NM_019066.5):c.1996dupC (p.Q666Pfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0000323910" "0" "30" "15" "23891422" "23891422" "subst" "0.000266596" "01804" "MAGEL2_000035" "g.23891422G>C" "" "" "" "MAGEL2(NM_019066.4):c.1468C>G (p.(Pro490Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646275G>C" "" "likely benign" "" "0000323911" "0" "30" "15" "23891467" "23891467" "subst" "0.000167336" "01804" "MAGEL2_000037" "g.23891467C>A" "" "" "" "MAGEL2(NM_019066.4):c.1423G>T (p.A475S, p.(Ala475Ser)), MAGEL2(NM_019066.5):c.1423G>T (p.A475S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646320C>A" "" "likely benign" "" "0000323913" "0" "50" "15" "23891503" "23891503" "subst" "0.0477683" "01804" "MAGEL2_000040" "g.23891503C>G" "" "" "" "MAGEL2(NM_019066.4):c.1387G>C (p.(Ala463Pro)), MAGEL2(NM_019066.5):c.1387G>C (p.A463P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646356C>G" "" "VUS" "" "0000323915" "0" "50" "15" "23891604" "23891604" "subst" "0.00318574" "01804" "MAGEL2_000045" "g.23891604G>A" "" "" "" "MAGEL2(NM_019066.4):c.1286C>T (p.P429L, p.(Pro429Leu)), MAGEL2(NM_019066.5):c.1286C>T (p.P429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646457G>A" "" "VUS" "" "0000323917" "0" "50" "15" "23891627" "23891647" "del" "0" "01804" "MAGEL2_000046" "g.23891627_23891647del" "" "" "" "MAGEL2(NM_019066.4):c.1266_1286del (p.(Ile423_Pro429del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646480_23646500del" "" "VUS" "" "0000323918" "0" "30" "15" "23891934" "23891954" "del" "0" "01804" "MAGEL2_000054" "g.23891934_23891954del" "" "" "" "MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646787_23646807del" "" "likely benign" "" "0000323920" "0" "50" "15" "23891989" "23891989" "subst" "0.00259942" "01804" "MAGEL2_000056" "g.23891989G>A" "" "" "" "MAGEL2(NM_019066.4):c.901C>T (p.(Pro301Ser)), MAGEL2(NM_019066.5):c.901C>T (p.P301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646842G>A" "" "VUS" "" "0000323921" "0" "30" "15" "23892037" "23892037" "subst" "0.00367443" "01804" "MAGEL2_000057" "g.23892037C>T" "" "" "" "MAGEL2(NM_019066.4):c.853G>A (p.G285R, p.(Gly285Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23646890C>T" "" "likely benign" "" "0000323923" "0" "50" "15" "23892212" "23892241" "del" "4.40956E-5" "01804" "MAGEL2_000058" "g.23892212_23892241del" "" "" "" "MAGEL2(NM_019066.4):c.660_689del (p.(His221_Ala230del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647065_23647094del" "" "VUS" "" "0000323925" "0" "50" "15" "23892210" "23892210" "subst" "0.000154778" "01804" "MAGEL2_000060" "g.23892210G>A" "" "" "" "MAGEL2(NM_019066.4):c.680C>T (p.T227I, p.(Thr227Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647063G>A" "" "VUS" "" "0000323926" "0" "50" "15" "23892381" "23892381" "subst" "2.35497E-5" "01804" "MAGEL2_000064" "g.23892381G>A" "" "" "" "MAGEL2(NM_019066.4):c.509C>T (p.(Ala170Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647234G>A" "" "VUS" "" "0000323928" "0" "50" "15" "23892549" "23892549" "subst" "2.21903E-5" "01804" "MAGEL2_000070" "g.23892549G>A" "" "" "" "MAGEL2(NM_019066.4):c.341C>T (p.P114L, p.(Pro114Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23647402G>A" "" "VUS" "" "0000345048" "0" "90" "15" "23889655" "23889655" "subst" "0" "02327" "MAGEL2_000077" "g.23889655C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644508C>A" "" "pathogenic" "" "0000347380" "0" "30" "15" "23889283" "23889283" "subst" "0" "02327" "MAGEL2_000076" "g.23889283T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23644136T>A" "" "likely benign" "" "0000349164" "0" "70" "15" "23890602" "23890602" "subst" "0" "02327" "MAGEL2_000078" "g.23890602G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23645455G>C" "" "likely pathogenic" "" "0000369798" "11" "90" "15" "23890978" "23890978" "subst" "0" "02517" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Negishi 2019:31791363}" "" "" "variant not on maternal allele" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645831G>A" "" "pathogenic (paternal)" "" "0000369801" "11" "90" "15" "23891129" "23891129" "subst" "0" "02517" "MAGEL2_000079" "g.23891129C>T" "" "{PMID:Negishi 2019:31791363}" "" "" "" "De novo" "" "" "0" "" "" "g.23645982C>T" "" "pathogenic (paternal)" "" "0000369802" "11" "90" "15" "23890978" "23890978" "subst" "0" "02517" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Negishi 2019:31791363}" "" "" "" "De novo" "" "" "0" "" "" "g.23645831G>A" "" "pathogenic (paternal)" "" "0000369803" "11" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2019:31791363}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0000369804" "11" "90" "15" "23891128" "23891128" "subst" "0" "02517" "MAGEL2_000080" "g.23891128G>A" "" "{PMID:Negishi 2019:31791363}" "" "" "" "Germline" "" "" "0" "" "" "g.23645981G>A" "" "pathogenic (paternal)" "" "0000369805" "11" "90" "15" "23891128" "23891128" "subst" "0" "02517" "MAGEL2_000080" "g.23891128G>A" "" "{PMID:Negishi 2019:31791363}" "" "" "" "Germline" "" "" "0" "" "" "g.23645981G>A" "" "pathogenic (paternal)" "" "0000553639" "0" "30" "15" "23889169" "23889169" "subst" "0.000157005" "01943" "MAGEL2_000007" "g.23889169C>T" "" "" "" "MAGEL2(NM_019066.4):c.3721G>A (p.G1241S), MAGEL2(NM_019066.5):c.3721G>A (p.G1241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644022C>T" "" "likely benign" "" "0000553641" "0" "30" "15" "23889378" "23889378" "subst" "0" "01804" "MAGEL2_000083" "g.23889378C>T" "" "" "" "MAGEL2(NM_019066.4):c.3512G>A (p.(Arg1171Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644231C>T" "" "likely benign" "" "0000553642" "0" "30" "15" "23889617" "23889617" "subst" "8.12242E-6" "01943" "MAGEL2_000084" "g.23889617G>A" "" "" "" "MAGEL2(NM_019066.4):c.3273C>T (p.N1091=), MAGEL2(NM_019066.5):c.3273C>T (p.N1091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644470G>A" "" "likely benign" "" "0000553643" "0" "50" "15" "23889727" "23889727" "subst" "4.06121E-6" "01943" "MAGEL2_000085" "g.23889727T>G" "" "" "" "MAGEL2(NM_019066.4):c.3163A>C (p.K1055Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644580T>G" "" "VUS" "" "0000553644" "0" "30" "15" "23889739" "23889739" "subst" "0.0313713" "01804" "MAGEL2_000012" "g.23889739G>T" "" "" "" "MAGEL2(NM_019066.4):c.3151C>A (p.(Leu1051Ile)), MAGEL2(NM_019066.5):c.3151C>A (p.L1051I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644592G>T" "" "likely benign" "" "0000553645" "0" "30" "15" "23889750" "23889750" "subst" "0.000633569" "01943" "MAGEL2_000086" "g.23889750A>G" "" "" "" "MAGEL2(NM_019066.4):c.3140T>C (p.V1047A, p.(Val1047Ala)), MAGEL2(NM_019066.5):c.3140T>C (p.V1047A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644603A>G" "" "likely benign" "" "0000553646" "0" "30" "15" "23889750" "23889750" "subst" "0.000633569" "01804" "MAGEL2_000086" "g.23889750A>G" "" "" "" "MAGEL2(NM_019066.4):c.3140T>C (p.V1047A, p.(Val1047Ala)), MAGEL2(NM_019066.5):c.3140T>C (p.V1047A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644603A>G" "" "likely benign" "" "0000553647" "0" "30" "15" "23889750" "23889750" "subst" "0.000633569" "02326" "MAGEL2_000086" "g.23889750A>G" "" "" "" "MAGEL2(NM_019066.4):c.3140T>C (p.V1047A, p.(Val1047Ala)), MAGEL2(NM_019066.5):c.3140T>C (p.V1047A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644603A>G" "" "likely benign" "" "0000553648" "0" "50" "15" "23889804" "23889804" "subst" "4.06184E-6" "02325" "MAGEL2_000087" "g.23889804T>C" "" "" "" "MAGEL2(NM_019066.5):c.3086A>G (p.Q1029R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644657T>C" "" "VUS" "" "0000553649" "0" "50" "15" "23889835" "23889835" "subst" "4.06194E-6" "01943" "MAGEL2_000088" "g.23889835G>C" "" "" "" "MAGEL2(NM_019066.4):c.3055C>G (p.P1019A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644688G>C" "" "VUS" "" "0000553650" "0" "30" "15" "23889844" "23889844" "subst" "0.000495572" "01804" "MAGEL2_000089" "g.23889844G>A" "" "" "" "MAGEL2(NM_019066.4):c.3046C>T (p.P1016S, p.(Pro1016Ser)), MAGEL2(NM_019066.5):c.3046C>T (p.P1016S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644697G>A" "" "likely benign" "" "0000553651" "0" "30" "15" "23889887" "23889887" "subst" "2.84377E-5" "01943" "MAGEL2_000090" "g.23889887C>G" "" "" "" "MAGEL2(NM_019066.4):c.3003G>C (p.P1001=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644740C>G" "" "likely benign" "" "0000553652" "0" "30" "15" "23889913" "23889913" "subst" "0" "01943" "MAGEL2_000091" "g.23889913C>T" "" "" "" "MAGEL2(NM_019066.4):c.2977G>A (p.V993M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644766C>T" "" "likely benign" "" "0000553653" "0" "50" "15" "23889927" "23889927" "subst" "1.22021E-5" "01943" "MAGEL2_000092" "g.23889927G>C" "" "" "" "MAGEL2(NM_019066.4):c.2963C>G (p.S988C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644780G>C" "" "VUS" "" "0000553654" "0" "90" "15" "23889938" "23889938" "del" "0" "02329" "MAGEL2_000093" "g.23889938del" "" "" "" "MAGEL2(NM_019066.5):c.2954delC (p.P985Qfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644791del" "" "pathogenic" "" "0000553655" "0" "30" "15" "23890020" "23890020" "subst" "0.000143121" "01804" "MAGEL2_000094" "g.23890020C>A" "" "" "" "MAGEL2(NM_019066.4):c.2870G>T (p.(Gly957Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644873C>A" "" "likely benign" "" "0000553656" "0" "10" "15" "23890257" "23890257" "subst" "0.00128825" "01943" "MAGEL2_000022" "g.23890257G>A" "" "" "" "MAGEL2(NM_019066.4):c.2633C>T (p.P878L, p.(Pro878Leu)), MAGEL2(NM_019066.5):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645110G>A" "" "benign" "" "0000553659" "0" "30" "15" "23890395" "23890395" "subst" "4.06237E-6" "01943" "MAGEL2_000095" "g.23890395G>C" "" "" "" "MAGEL2(NM_019066.4):c.2495C>G (p.P832R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645248G>C" "" "likely benign" "" "0000553660" "0" "30" "15" "23890609" "23890609" "subst" "0.000735653" "01943" "MAGEL2_000031" "g.23890609C>G" "" "" "" "MAGEL2(NM_019066.4):c.2281G>C (p.A761P, p.(Ala761Pro)), MAGEL2(NM_019066.5):c.2281G>C (p.A761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645462C>G" "" "likely benign" "" "0000553661" "0" "30" "15" "23890609" "23890609" "subst" "0.000735653" "01804" "MAGEL2_000031" "g.23890609C>G" "" "" "" "MAGEL2(NM_019066.4):c.2281G>C (p.A761P, p.(Ala761Pro)), MAGEL2(NM_019066.5):c.2281G>C (p.A761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645462C>G" "" "likely benign" "" "0000553662" "0" "50" "15" "23890660" "23890660" "subst" "4.07053E-5" "01943" "MAGEL2_000096" "g.23890660C>T" "" "" "" "MAGEL2(NM_019066.4):c.2230G>A (p.A744T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645513C>T" "" "VUS" "" "0000553663" "0" "50" "15" "23890674" "23890674" "subst" "0" "01943" "MAGEL2_000097" "g.23890674G>C" "" "" "" "MAGEL2(NM_019066.4):c.2216C>G (p.S739W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645527G>C" "" "VUS" "" "0000553664" "0" "50" "15" "23890708" "23890708" "subst" "0" "01943" "MAGEL2_000098" "g.23890708G>A" "" "" "" "MAGEL2(NM_019066.4):c.2182C>T (p.R728C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645561G>A" "" "VUS" "" "0000553665" "0" "30" "15" "23890716" "23890716" "subst" "4.13145E-6" "01943" "MAGEL2_000099" "g.23890716G>C" "" "" "" "MAGEL2(NM_019066.4):c.2174C>G (p.S725C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645569G>C" "" "likely benign" "" "0000553666" "0" "90" "15" "23890900" "23890900" "del" "0" "02329" "MAGEL2_000100" "g.23890900del" "" "" "" "MAGEL2(NM_019066.5):c.1996delC (p.Q666Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645753del" "" "pathogenic" "" "0000553667" "0" "30" "15" "23890996" "23890996" "subst" "0" "01943" "MAGEL2_000101" "g.23890996C>T" "" "" "" "MAGEL2(NM_019066.4):c.1894G>A (p.A632T, p.(Ala632Thr)), MAGEL2(NM_019066.5):c.1894G>A (p.A632T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645849C>T" "" "likely benign" "" "0000553668" "0" "30" "15" "23890996" "23890996" "subst" "0" "01804" "MAGEL2_000101" "g.23890996C>T" "" "" "" "MAGEL2(NM_019066.4):c.1894G>A (p.A632T, p.(Ala632Thr)), MAGEL2(NM_019066.5):c.1894G>A (p.A632T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645849C>T" "" "likely benign" "" "0000553670" "0" "50" "15" "23891124" "23891124" "subst" "0" "01943" "MAGEL2_000103" "g.23891124G>A" "" "" "" "MAGEL2(NM_019066.4):c.1766C>T (p.A589V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645977G>A" "" "VUS" "" "0000553671" "0" "30" "15" "23891213" "23891213" "subst" "0" "01943" "MAGEL2_000104" "g.23891213C>A" "" "" "" "MAGEL2(NM_019066.4):c.1677G>T (p.P559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646066C>A" "" "likely benign" "" "0000553672" "0" "30" "15" "23891232" "23891232" "subst" "0" "01804" "MAGEL2_000105" "g.23891232G>C" "" "" "" "MAGEL2(NM_019066.4):c.1658C>G (p.(Ala553Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646085G>C" "" "likely benign" "" "0000553673" "0" "30" "15" "23891234" "23891234" "subst" "0" "01943" "MAGEL2_000106" "g.23891234G>A" "" "" "" "MAGEL2(NM_019066.4):c.1656C>T (p.P552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646087G>A" "" "likely benign" "" "0000553675" "0" "50" "15" "23891383" "23891383" "subst" "0" "01943" "MAGEL2_000108" "g.23891383C>T" "" "" "" "MAGEL2(NM_019066.4):c.1507G>A (p.A503T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646236C>T" "" "VUS" "" "0000553676" "0" "30" "15" "23891444" "23891464" "del" "0" "01804" "MAGEL2_000109" "g.23891444_23891464del" "" "" "" "MAGEL2(NM_019066.4):c.1446_1466del (p.(Pro484_Pro490del)), MAGEL2(NM_019066.5):c.1446_1466delTCCACCTGTGATCCGCCAGGC (p.V485_P491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646297_23646317del" "" "likely benign" "" "0000553677" "0" "30" "15" "23891467" "23891467" "subst" "0.000167336" "02330" "MAGEL2_000037" "g.23891467C>A" "" "" "" "MAGEL2(NM_019066.4):c.1423G>T (p.A475S, p.(Ala475Ser)), MAGEL2(NM_019066.5):c.1423G>T (p.A475S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646320C>A" "" "likely benign" "" "0000553678" "0" "30" "15" "23891467" "23891467" "subst" "0.000167336" "02326" "MAGEL2_000037" "g.23891467C>A" "" "" "" "MAGEL2(NM_019066.4):c.1423G>T (p.A475S, p.(Ala475Ser)), MAGEL2(NM_019066.5):c.1423G>T (p.A475S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646320C>A" "" "likely benign" "" "0000553679" "0" "10" "15" "23891486" "23891486" "subst" "0.000489647" "02330" "MAGEL2_000038" "g.23891486G>T" "" "" "" "MAGEL2(NM_019066.4):c.1404C>A (p.A468=), MAGEL2(NM_019066.5):c.1404C>A (p.A468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646339G>T" "" "benign" "" "0000553680" "0" "50" "15" "23891521" "23891521" "subst" "0" "01943" "MAGEL2_000042" "g.23891521C>T" "" "" "" "MAGEL2(NM_019066.4):c.1369G>A (p.V457M), MAGEL2(NM_019066.5):c.1369G>A (p.V457M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646374C>T" "" "VUS" "" "0000553681" "0" "50" "15" "23891530" "23891530" "subst" "0.000596659" "01943" "MAGEL2_000110" "g.23891530C>T" "" "" "" "MAGEL2(NM_019066.4):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646383C>T" "" "VUS" "" "0000553683" "0" "50" "15" "23891543" "23891563" "del" "0" "01804" "MAGEL2_000041" "g.23891543_23891563del" "" "" "" "MAGEL2(NM_019066.4):c.1365_1385del (p.(Pro456_Pro462del)), MAGEL2(NM_019066.4):c.1365_1385delACCCGTGATCCGCCAGGCCCC (p.P456_P462del), MAGEL2(NM_019...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646396_23646416del" "" "VUS" "" "0000553684" "0" "10" "15" "23891586" "23891586" "subst" "0.00492865" "02330" "MAGEL2_000044" "g.23891586G>A" "" "" "" "MAGEL2(NM_019066.4):c.1304C>T (p.P435L, p.(Pro435Leu)), MAGEL2(NM_019066.5):c.1304C>T (p.P435L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646439G>A" "" "benign" "" "0000553685" "0" "30" "15" "23891586" "23891586" "subst" "0.00492865" "01943" "MAGEL2_000044" "g.23891586G>A" "" "" "" "MAGEL2(NM_019066.4):c.1304C>T (p.P435L, p.(Pro435Leu)), MAGEL2(NM_019066.5):c.1304C>T (p.P435L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646439G>A" "" "likely benign" "" "0000553686" "0" "30" "15" "23891586" "23891586" "subst" "0.00492865" "01804" "MAGEL2_000044" "g.23891586G>A" "" "" "" "MAGEL2(NM_019066.4):c.1304C>T (p.P435L, p.(Pro435Leu)), MAGEL2(NM_019066.5):c.1304C>T (p.P435L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646439G>A" "" "likely benign" "" "0000553689" "0" "30" "15" "23891811" "23891811" "subst" "0.00564196" "01804" "MAGEL2_000050" "g.23891811G>A" "" "" "" "MAGEL2(NM_019066.4):c.1079C>T (p.(Ala360Val)), MAGEL2(NM_019066.5):c.1079C>T (p.A360V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646664G>A" "" "likely benign" "" "0000553690" "0" "30" "15" "23891852" "23891852" "subst" "0.001025" "01804" "MAGEL2_000053" "g.23891852C>G" "" "" "" "MAGEL2(NM_019066.4):c.1038G>C (p.(Arg346Ser)), MAGEL2(NM_019066.5):c.1038G>C (p.R346S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646705C>G" "" "likely benign" "" "0000553691" "0" "50" "15" "23891853" "23891853" "subst" "0" "01943" "MAGEL2_000114" "g.23891853C>A" "" "" "" "MAGEL2(NM_019066.4):c.1037G>T (p.R346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646706C>A" "" "VUS" "" "0000553692" "0" "50" "15" "23891868" "23891868" "subst" "7.64655E-6" "01943" "MAGEL2_000115" "g.23891868T>A" "" "" "" "MAGEL2(NM_019066.4):c.1022A>T (p.Q341L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646721T>A" "" "VUS" "" "0000553693" "0" "30" "15" "23891934" "23891954" "del" "0" "02330" "MAGEL2_000054" "g.23891934_23891954del" "" "" "" "MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646787_23646807del" "" "likely benign" "" "0000553695" "0" "30" "15" "23892078" "23892078" "subst" "4.38142E-5" "01943" "MAGEL2_000116" "g.23892078G>C" "" "" "" "MAGEL2(NM_019066.4):c.812C>G (p.P271R), MAGEL2(NM_019066.5):c.812C>G (p.P271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646931G>C" "" "likely benign" "" "0000553696" "0" "30" "15" "23892203" "23892203" "subst" "0.000191205" "01804" "MAGEL2_000117" "g.23892203C>T" "" "" "" "MAGEL2(NM_019066.4):c.687G>A (p.(Met229Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647056C>T" "" "likely benign" "" "0000553697" "0" "50" "15" "23892210" "23892210" "subst" "0.000154778" "01943" "MAGEL2_000060" "g.23892210G>A" "" "" "" "MAGEL2(NM_019066.4):c.680C>T (p.T227I, p.(Thr227Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647063G>A" "" "VUS" "" "0000553698" "0" "30" "15" "23892251" "23892251" "subst" "0.000485594" "02330" "MAGEL2_000118" "g.23892251T>G" "" "" "" "MAGEL2(NM_019066.4):c.639A>C (p.P213=), MAGEL2(NM_019066.5):c.639A>C (p.P213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647104T>G" "" "likely benign" "" "0000553700" "0" "70" "15" "23892335" "23892335" "del" "0" "01804" "MAGEL2_000119" "g.23892335del" "" "" "" "MAGEL2(NM_019066.4):c.558delG (p.(Thr187ProfsTer52))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647188del" "" "likely pathogenic" "" "0000553701" "0" "30" "15" "23892386" "23892415" "del" "0" "01804" "MAGEL2_000120" "g.23892386_23892415del" "" "" "" "MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647239_23647268del" "" "likely benign" "" "0000553702" "0" "30" "15" "23892396" "23892396" "subst" "0.000490617" "01943" "MAGEL2_000121" "g.23892396G>A" "" "" "" "MAGEL2(NM_019066.4):c.494C>T (p.P165L), MAGEL2(NM_019066.5):c.494C>T (p.P165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647249G>A" "" "likely benign" "" "0000553704" "0" "50" "15" "23892415" "23892415" "subst" "2.99706E-5" "01943" "MAGEL2_000123" "g.23892415T>C" "" "" "" "MAGEL2(NM_019066.4):c.475A>G (p.M159V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647268T>C" "" "VUS" "" "0000553705" "0" "30" "15" "23892429" "23892429" "subst" "0" "01943" "MAGEL2_000124" "g.23892429G>T" "" "" "" "MAGEL2(NM_019066.4):c.461C>A (p.P154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647282G>T" "" "likely benign" "" "0000553706" "0" "30" "15" "23892442" "23892442" "subst" "0" "01943" "MAGEL2_000125" "g.23892442A>T" "" "" "" "MAGEL2(NM_019066.4):c.448T>A (p.S150T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647295A>T" "" "likely benign" "" "0000553708" "0" "50" "15" "23892549" "23892549" "subst" "2.21903E-5" "01943" "MAGEL2_000070" "g.23892549G>A" "" "" "" "MAGEL2(NM_019066.4):c.341C>T (p.P114L, p.(Pro114Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647402G>A" "" "VUS" "" "0000553709" "0" "30" "15" "23892656" "23892656" "subst" "0" "01943" "MAGEL2_000127" "g.23892656C>T" "" "" "" "MAGEL2(NM_019066.4):c.234G>A (p.P78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647509C>T" "" "likely benign" "" "0000553710" "0" "30" "15" "23892665" "23892665" "subst" "0.00160284" "02326" "MAGEL2_000072" "g.23892665C>T" "" "" "" "MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647518C>T" "" "likely benign" "" "0000553711" "0" "50" "15" "23892750" "23892750" "subst" "0" "01943" "MAGEL2_000128" "g.23892750G>A" "" "" "" "MAGEL2(NM_019066.4):c.140C>T (p.P47L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647603G>A" "" "VUS" "" "0000553712" "0" "50" "15" "23892849" "23892849" "subst" "0.000525603" "01943" "MAGEL2_000129" "g.23892849G>T" "" "" "" "MAGEL2(NM_019066.4):c.41C>A (p.P14Q), MAGEL2(NM_019066.5):c.41C>A (p.P14Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647702G>T" "" "VUS" "" "0000615170" "0" "50" "15" "23889735" "23889735" "subst" "8.12315E-6" "01943" "MAGEL2_000131" "g.23889735C>T" "" "" "" "MAGEL2(NM_019066.4):c.3155G>A (p.R1052Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644588C>T" "" "VUS" "" "0000615171" "0" "30" "15" "23890073" "23890073" "subst" "3.25386E-5" "02326" "MAGEL2_000133" "g.23890073G>A" "" "" "" "MAGEL2(NM_019066.5):c.2817C>T (p.T939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644926G>A" "" "likely benign" "" "0000615172" "0" "70" "15" "23890074" "23890074" "dup" "0" "02327" "MAGEL2_000134" "g.23890074dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644927dup" "" "likely pathogenic" "" "0000615173" "0" "30" "15" "23890248" "23890248" "subst" "5.68727E-5" "02325" "MAGEL2_000135" "g.23890248C>T" "" "" "" "MAGEL2(NM_019066.5):c.2642G>A (p.(Arg881His), p.R881H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645101C>T" "" "likely benign" "" "0000615174" "0" "30" "15" "23890252" "23890252" "subst" "6.90726E-5" "01804" "MAGEL2_000136" "g.23890252G>A" "" "" "" "MAGEL2(NM_019066.4):c.2638C>T (p.(Arg880Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645105G>A" "" "likely benign" "" "0000615175" "0" "30" "15" "23890434" "23890434" "subst" "8.12249E-6" "01804" "MAGEL2_000026" "g.23890434T>C" "" "" "" "MAGEL2(NM_019066.4):c.2456A>G (p.Y819C, p.(Tyr819Cys)), MAGEL2(NM_019066.5):c.2456A>G (p.Y819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645287T>C" "" "likely benign" "" "0000615176" "0" "90" "15" "23890652" "23890652" "del" "0" "02327" "MAGEL2_000137" "g.23890652del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645505del" "" "pathogenic" "" "0000615177" "0" "90" "15" "23890737" "23890737" "subst" "0" "01943" "MAGEL2_000138" "g.23890737G>C" "" "" "" "MAGEL2(NM_019066.4):c.2153C>G (p.S718*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645590G>C" "" "pathogenic" "" "0000615178" "0" "30" "15" "23890979" "23890979" "subst" "8.6299E-5" "01943" "MAGEL2_000139" "g.23890979C>T" "" "" "" "MAGEL2(NM_019066.4):c.1911G>A (p.R637=), MAGEL2(NM_019066.5):c.1911G>A (p.R637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645832C>T" "" "likely benign" "" "0000615179" "0" "30" "15" "23891006" "23891006" "subst" "0" "01943" "MAGEL2_000140" "g.23891006C>T" "" "" "" "MAGEL2(NM_019066.4):c.1884G>A (p.Q628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23645859C>T" "" "likely benign" "" "0000615181" "0" "30" "15" "23891309" "23891309" "subst" "0" "01943" "MAGEL2_000142" "g.23891309C>T" "" "" "" "MAGEL2(NM_019066.4):c.1581G>A (p.P527=), MAGEL2(NM_019066.5):c.1581G>A (p.P527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646162C>T" "" "likely benign" "" "0000615182" "0" "50" "15" "23891407" "23891407" "subst" "0" "01943" "MAGEL2_000143" "g.23891407G>C" "" "" "" "MAGEL2(NM_019066.4):c.1483C>G (p.Q495E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646260G>C" "" "VUS" "" "0000615183" "0" "50" "15" "23891451" "23891451" "subst" "0" "01943" "MAGEL2_000144" "g.23891451C>T" "" "" "" "MAGEL2(NM_019066.4):c.1439G>A (p.R480H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646304C>T" "" "VUS" "" "0000615184" "0" "30" "15" "23891467" "23891467" "subst" "0.000167336" "01943" "MAGEL2_000037" "g.23891467C>A" "" "" "" "MAGEL2(NM_019066.4):c.1423G>T (p.A475S, p.(Ala475Ser)), MAGEL2(NM_019066.5):c.1423G>T (p.A475S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646320C>A" "" "likely benign" "" "0000615185" "0" "30" "15" "23891641" "23891641" "subst" "0" "01943" "MAGEL2_000145" "g.23891641G>A" "" "" "" "MAGEL2(NM_019066.4):c.1249C>T (p.R417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646494G>A" "" "likely benign" "" "0000615186" "0" "50" "15" "23891671" "23891671" "subst" "0" "01943" "MAGEL2_000146" "g.23891671G>A" "" "" "" "MAGEL2(NM_019066.4):c.1219C>T (p.P407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646524G>A" "" "VUS" "" "0000615187" "0" "10" "15" "23891934" "23891954" "del" "0" "01943" "MAGEL2_000054" "g.23891934_23891954del" "" "" "" "MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646787_23646807del" "" "benign" "" "0000615188" "0" "30" "15" "23892126" "23892126" "subst" "0.000168168" "01943" "MAGEL2_000148" "g.23892126G>A" "" "" "" "MAGEL2(NM_019066.4):c.764C>T (p.P255L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646979G>A" "" "likely benign" "" "0000615189" "0" "50" "15" "23892401" "23892430" "del" "0.000536362" "01804" "MAGEL2_000122" "g.23892401_23892430del" "" "" "" "MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647254_23647283del" "" "VUS" "" "0000615190" "0" "30" "15" "23892455" "23892455" "subst" "1.47645E-5" "01943" "MAGEL2_000149" "g.23892455C>T" "" "" "" "MAGEL2(NM_019066.4):c.435G>A (p.P145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647308C>T" "" "likely benign" "" "0000615191" "0" "30" "15" "23892617" "23892617" "subst" "0.00093738" "01943" "MAGEL2_000151" "g.23892617C>T" "" "" "" "MAGEL2(NM_019066.4):c.273G>A (p.P91=), MAGEL2(NM_019066.5):c.273G>A (p.P91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647470C>T" "" "likely benign" "" "0000615192" "0" "30" "15" "23892707" "23892707" "subst" "0.000196389" "02330" "MAGEL2_000073" "g.23892707A>G" "" "" "" "MAGEL2(NM_019066.4):c.183T>C (p.P61=), MAGEL2(NM_019066.5):c.183T>C (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647560A>G" "" "likely benign" "" "0000623189" "0" "30" "15" "23889269" "23889269" "subst" "4.06141E-6" "01943" "MAGEL2_000130" "g.23889269T>C" "" "" "" "MAGEL2(NM_019066.4):c.3621A>G (p.K1207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644122T>C" "" "likely benign" "" "0000623190" "0" "30" "15" "23890006" "23890006" "subst" "5.74241E-5" "01943" "MAGEL2_000132" "g.23890006T>C" "" "" "" "MAGEL2(NM_019066.4):c.2884A>G (p.S962G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23644859T>C" "" "likely benign" "" "0000623191" "0" "30" "15" "23891672" "23891672" "subst" "0" "01943" "MAGEL2_000147" "g.23891672C>T" "" "" "" "MAGEL2(NM_019066.4):c.1218G>A (p.P406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646525C>T" "" "likely benign" "" "0000623192" "0" "30" "15" "23891971" "23891971" "subst" "0.000606832" "01943" "MAGEL2_000055" "g.23891971G>A" "" "" "" "MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646824G>A" "" "likely benign" "" "0000623193" "0" "30" "15" "23892251" "23892251" "subst" "0.000485594" "01943" "MAGEL2_000118" "g.23892251T>G" "" "" "" "MAGEL2(NM_019066.4):c.639A>C (p.P213=), MAGEL2(NM_019066.5):c.639A>C (p.P213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647104T>G" "" "likely benign" "" "0000623194" "0" "30" "15" "23892577" "23892577" "subst" "7.4782E-6" "01943" "MAGEL2_000150" "g.23892577G>C" "" "" "" "MAGEL2(NM_019066.4):c.313C>G (p.P105A), MAGEL2(NM_019066.5):c.313C>G (p.(Pro105Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647430G>C" "" "likely benign" "" "0000645307" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.23645753dup" "{CV:000746657.1}" "pathogenic (dominant)" "" "0000649019" "1" "90" "15" "23889766" "23889766" "subst" "0" "03575" "MAGEL2_000004" "g.23889766G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398122418}" "Germline" "" "rs398122418" "0" "" "" "g.23644619G>A" "" "pathogenic" "" "0000657531" "0" "90" "15" "23891869" "23891869" "subst" "0" "02329" "MAGEL2_000152" "g.23891869G>A" "" "" "" "MAGEL2(NM_019066.5):c.1021C>T (p.Q341*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23646722G>A" "" "pathogenic" "" "0000657532" "0" "30" "15" "23892212" "23892271" "del" "2.20478E-5" "02325" "MAGEL2_000153" "g.23892212_23892271del" "" "" "" "MAGEL2(NM_019066.5):c.630_689del (p.H211_A230del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23647065_23647124del" "" "likely benign" "" "0000675307" "0" "70" "15" "23891010" "23891010" "subst" "0" "00534" "MAGEL2_000160" "g.23891010C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "De novo" "" "" "0" "" "" "g.23645863C>T" "" "likely pathogenic (dominant)" "ACMG" "0000675335" "11" "70" "15" "23889995" "23889995" "subst" "0" "00534" "MAGEL2_000155" "g.23889995C>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "paternal (imprinted gene)" "Germline" "" "" "0" "" "" "g.23644848C>T" "" "likely pathogenic (paternal)" "ACMG" "0000675337" "0" "70" "15" "23891021" "23891021" "dup" "0" "00534" "MAGEL2_000161" "g.23891021dup" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.23645874dup" "" "likely pathogenic" "ACMG" "0000680102" "0" "30" "15" "23889233" "23889233" "subst" "0.000345349" "01943" "MAGEL2_000154" "g.23889233C>T" "" "" "" "MAGEL2(NM_019066.4):c.3657G>A (p.A1219=), MAGEL2(NM_019066.5):c.3657G>A (p.A1219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680103" "0" "50" "15" "23890195" "23890195" "subst" "0" "01943" "MAGEL2_000156" "g.23890195G>A" "" "" "" "MAGEL2(NM_019066.4):c.2695C>T (p.R899C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680104" "0" "50" "15" "23890657" "23890657" "subst" "0" "01943" "MAGEL2_000157" "g.23890657G>C" "" "" "" "MAGEL2(NM_019066.4):c.2233C>G (p.P745A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680105" "0" "50" "15" "23890884" "23890884" "subst" "0.000140168" "01943" "MAGEL2_000158" "g.23890884T>A" "" "" "" "MAGEL2(NM_019066.4):c.2006A>T (p.Q669L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680106" "0" "50" "15" "23890899" "23890899" "subst" "6.1901E-5" "01943" "MAGEL2_000159" "g.23890899G>A" "" "" "" "MAGEL2(NM_019066.4):c.1991C>T (p.P664L), MAGEL2(NM_019066.5):c.1991C>T (p.P664L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680107" "0" "50" "15" "23891148" "23891148" "subst" "2.77886E-5" "01943" "MAGEL2_000162" "g.23891148T>G" "" "" "" "MAGEL2(NM_019066.4):c.1742A>C (p.H581P), MAGEL2(NM_019066.5):c.1742A>C (p.H581P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680108" "0" "50" "15" "23891170" "23891170" "subst" "9.40502E-5" "01943" "MAGEL2_000163" "g.23891170G>C" "" "" "" "MAGEL2(NM_019066.4):c.1720C>G (p.L574V), MAGEL2(NM_019066.5):c.1720C>G (p.(Leu574Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680109" "0" "30" "15" "23891244" "23891244" "subst" "2.66113E-5" "01943" "MAGEL2_000164" "g.23891244G>A" "" "" "" "MAGEL2(NM_019066.4):c.1646C>T (p.T549M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680110" "0" "50" "15" "23891470" "23891470" "subst" "0" "01943" "MAGEL2_000165" "g.23891470G>C" "" "" "" "MAGEL2(NM_019066.4):c.1420C>G (p.Q474E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680111" "0" "30" "15" "23892251" "23892280" "del" "0" "01943" "MAGEL2_000166" "g.23892251_23892280del" "" "" "" "MAGEL2(NM_019066.4):c.639_668delACCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680112" "0" "30" "15" "23892341" "23892341" "subst" "6.62723E-5" "01943" "MAGEL2_000167" "g.23892341A>G" "" "" "" "MAGEL2(NM_019066.4):c.549T>C (p.P183=), MAGEL2(NM_019066.5):c.549T>C (p.P183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680113" "0" "30" "15" "23892456" "23892456" "subst" "0.000176942" "01943" "MAGEL2_000168" "g.23892456G>A" "" "" "" "MAGEL2(NM_019066.4):c.434C>T (p.P145L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680114" "0" "30" "15" "23892566" "23892566" "subst" "0" "01943" "MAGEL2_000169" "g.23892566C>T" "" "" "" "MAGEL2(NM_019066.4):c.324G>A (p.L108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680115" "0" "50" "15" "23892633" "23892633" "subst" "3.85535E-5" "01943" "MAGEL2_000170" "g.23892633C>G" "" "" "" "MAGEL2(NM_019066.4):c.257G>C (p.G86A), MAGEL2(NM_019066.5):c.257G>C (p.G86A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691757" "0" "50" "15" "23889177" "23889177" "subst" "4.10809E-6" "01943" "MAGEL2_000171" "g.23889177C>G" "" "" "" "MAGEL2(NM_019066.4):c.3713G>C (p.S1238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691758" "0" "30" "15" "23890100" "23890100" "subst" "0" "01943" "MAGEL2_000172" "g.23890100G>C" "" "" "" "MAGEL2(NM_019066.4):c.2790C>G (p.V930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691759" "0" "30" "15" "23891482" "23891502" "del" "0" "01943" "MAGEL2_000173" "g.23891482_23891502del" "" "" "" "MAGEL2(NM_019066.4):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del), MAGEL2(NM_019066.5):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691760" "0" "30" "15" "23891585" "23891585" "subst" "0.000227238" "01943" "MAGEL2_000174" "g.23891585C>T" "" "" "" "MAGEL2(NM_019066.4):c.1305G>A (p.P435=), MAGEL2(NM_019066.5):c.1305G>A (p.P435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698208" "0" "70" "15" "0" "0" "" "0" "00006" "IGF1R_000000" "g.?" "" "{PMID:Zhu 2015:25590979}" "" "ENST00000532292.1:c.1086G>A (Trp326*)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000724956" "0" "30" "15" "23889200" "23889200" "subst" "0.000256699" "02330" "MAGEL2_000009" "g.23889200C>G" "" "" "" "MAGEL2(NM_019066.4):c.3690G>C (p.E1230D), MAGEL2(NM_019066.5):c.3690G>C (p.E1230D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724957" "0" "30" "15" "23889502" "23889502" "subst" "0.000182798" "02330" "MAGEL2_000175" "g.23889502C>T" "" "" "" "MAGEL2(NM_019066.5):c.3388G>A (p.D1130N, p.(Asp1130Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724958" "0" "50" "15" "23889696" "23889696" "subst" "0" "02330" "MAGEL2_000176" "g.23889696G>T" "" "" "" "MAGEL2(NM_019066.5):c.3194C>A (p.A1065D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724959" "0" "10" "15" "23889750" "23889750" "subst" "0.000633569" "02330" "MAGEL2_000086" "g.23889750A>G" "" "" "" "MAGEL2(NM_019066.4):c.3140T>C (p.V1047A, p.(Val1047Ala)), MAGEL2(NM_019066.5):c.3140T>C (p.V1047A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724960" "0" "50" "15" "23889752" "23889752" "subst" "0" "01943" "MAGEL2_000177" "g.23889752C>G" "" "" "" "MAGEL2(NM_019066.4):c.3138G>C (p.M1046I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724961" "0" "10" "15" "23889878" "23889878" "subst" "0.00095047" "02330" "MAGEL2_000014" "g.23889878A>G" "" "" "" "MAGEL2(NM_019066.4):c.3012T>C (p.S1004=), MAGEL2(NM_019066.5):c.3012T>C (p.S1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724962" "0" "10" "15" "23890004" "23890004" "subst" "0.00544823" "02330" "MAGEL2_000017" "g.23890004G>A" "" "" "" "MAGEL2(NM_019066.4):c.2886C>T (p.S962=), MAGEL2(NM_019066.5):c.2886C>T (p.S962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724963" "0" "90" "15" "23890017" "23890017" "subst" "0" "02329" "MAGEL2_000018" "g.23890017C>T" "" "" "" "MAGEL2(NM_019066.5):c.2873G>A (p.W958*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724964" "0" "30" "15" "23890106" "23890106" "subst" "0.00228368" "02330" "MAGEL2_000019" "g.23890106G>A" "" "" "" "MAGEL2(NM_019066.4):c.2784C>T (p.I928=), MAGEL2(NM_019066.5):c.2784C>T (p.I928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724965" "0" "30" "15" "23890434" "23890434" "subst" "8.12249E-6" "02330" "MAGEL2_000026" "g.23890434T>C" "" "" "" "MAGEL2(NM_019066.4):c.2456A>G (p.Y819C, p.(Tyr819Cys)), MAGEL2(NM_019066.5):c.2456A>G (p.Y819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724966" "0" "30" "15" "23890600" "23890600" "subst" "0.000699107" "02330" "MAGEL2_000030" "g.23890600C>T" "" "" "" "MAGEL2(NM_019066.4):c.2290G>A (p.A764T), MAGEL2(NM_019066.5):c.2290G>A (p.A764T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724967" "0" "30" "15" "23890600" "23890600" "subst" "0.000699107" "01943" "MAGEL2_000030" "g.23890600C>T" "" "" "" "MAGEL2(NM_019066.4):c.2290G>A (p.A764T), MAGEL2(NM_019066.5):c.2290G>A (p.A764T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724968" "0" "30" "15" "23890639" "23890639" "subst" "0.000451275" "02330" "MAGEL2_000178" "g.23890639T>C" "" "" "" "MAGEL2(NM_019066.5):c.2251A>G (p.I751V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724969" "0" "50" "15" "23890732" "23890732" "subst" "5.029E-5" "02330" "MAGEL2_000179" "g.23890732C>G" "" "" "" "MAGEL2(NM_019066.4):c.2158G>C (p.E720Q), MAGEL2(NM_019066.5):c.2158G>C (p.E720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724970" "0" "10" "15" "23890895" "23890895" "subst" "1.04775E-5" "02330" "MAGEL2_000180" "g.23890895G>A" "" "" "" "MAGEL2(NM_019066.5):c.1995C>T (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724971" "0" "30" "15" "23890899" "23890899" "subst" "6.1901E-5" "02330" "MAGEL2_000159" "g.23890899G>A" "" "" "" "MAGEL2(NM_019066.4):c.1991C>T (p.P664L), MAGEL2(NM_019066.5):c.1991C>T (p.P664L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724972" "0" "90" "15" "23890900" "23890900" "dup" "0" "02325" "MAGEL2_000005" "g.23890900dup" "" "" "" "MAGEL2(NM_019066.4):c.1996_1997insC (p.?), MAGEL2(NM_019066.5):c.1996dupC (p.Q666Pfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724973" "0" "30" "15" "23890919" "23890919" "subst" "0" "02330" "MAGEL2_000181" "g.23890919T>C" "" "" "" "MAGEL2(NM_019066.5):c.1971A>G (p.K657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724974" "0" "50" "15" "23890948" "23890948" "subst" "0" "02330" "MAGEL2_000182" "g.23890948G>A" "" "" "" "MAGEL2(NM_019066.5):c.1942C>T (p.P648S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724975" "0" "30" "15" "23890996" "23890996" "subst" "0" "02330" "MAGEL2_000101" "g.23890996C>T" "" "" "" "MAGEL2(NM_019066.4):c.1894G>A (p.A632T, p.(Ala632Thr)), MAGEL2(NM_019066.5):c.1894G>A (p.A632T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724976" "0" "50" "15" "23891214" "23891214" "subst" "2.15503E-5" "02330" "MAGEL2_000183" "g.23891214G>A" "" "" "" "MAGEL2(NM_019066.5):c.1676C>T (p.P559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724977" "0" "50" "15" "23891259" "23891259" "subst" "0" "02329" "MAGEL2_000141" "g.23891259G>A" "" "" "" "MAGEL2(NM_019066.5):c.1631C>T (p.T544M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724978" "0" "30" "15" "23891273" "23891273" "subst" "0" "01943" "MAGEL2_000184" "g.23891273C>T" "" "" "" "MAGEL2(NM_019066.4):c.1617G>A (p.A539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724979" "0" "30" "15" "23891420" "23891420" "subst" "0.000763359" "02330" "MAGEL2_000185" "g.23891420C>T" "" "" "" "MAGEL2(NM_019066.4):c.1470G>A (p.P490=), MAGEL2(NM_019066.5):c.1470G>A (p.P490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724980" "0" "30" "15" "23891420" "23891420" "subst" "0.000763359" "01943" "MAGEL2_000185" "g.23891420C>T" "" "" "" "MAGEL2(NM_019066.4):c.1470G>A (p.P490=), MAGEL2(NM_019066.5):c.1470G>A (p.P490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724981" "0" "50" "15" "23891444" "23891464" "del" "0" "02330" "MAGEL2_000109" "g.23891444_23891464del" "" "" "" "MAGEL2(NM_019066.4):c.1446_1466del (p.(Pro484_Pro490del)), MAGEL2(NM_019066.5):c.1446_1466delTCCACCTGTGATCCGCCAGGC (p.V485_P491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724982" "0" "30" "15" "23891521" "23891521" "subst" "0" "02330" "MAGEL2_000042" "g.23891521C>T" "" "" "" "MAGEL2(NM_019066.4):c.1369G>A (p.V457M), MAGEL2(NM_019066.5):c.1369G>A (p.V457M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724983" "0" "10" "15" "23891543" "23891563" "del" "0" "02330" "MAGEL2_000041" "g.23891543_23891563del" "" "" "" "MAGEL2(NM_019066.4):c.1365_1385del (p.(Pro456_Pro462del)), MAGEL2(NM_019066.4):c.1365_1385delACCCGTGATCCGCCAGGCCCC (p.P456_P462del), MAGEL2(NM_019...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724984" "0" "10" "15" "23891585" "23891585" "subst" "0.000227238" "02330" "MAGEL2_000174" "g.23891585C>T" "" "" "" "MAGEL2(NM_019066.4):c.1305G>A (p.P435=), MAGEL2(NM_019066.5):c.1305G>A (p.P435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724985" "0" "30" "15" "23891604" "23891604" "subst" "0.00318574" "02330" "MAGEL2_000045" "g.23891604G>A" "" "" "" "MAGEL2(NM_019066.4):c.1286C>T (p.P429L, p.(Pro429Leu)), MAGEL2(NM_019066.5):c.1286C>T (p.P429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724986" "0" "50" "15" "23891652" "23891652" "subst" "8.03445E-5" "02330" "MAGEL2_000186" "g.23891652G>A" "" "" "" "MAGEL2(NM_019066.5):c.1238C>T (p.P413L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724987" "0" "70" "15" "23891869" "23891869" "subst" "0" "02330" "MAGEL2_000152" "g.23891869G>A" "" "" "" "MAGEL2(NM_019066.5):c.1021C>T (p.Q341*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724988" "0" "10" "15" "23892083" "23892083" "subst" "0.000131491" "02330" "MAGEL2_000187" "g.23892083G>T" "" "" "" "MAGEL2(NM_019066.4):c.807C>A (p.T269=), MAGEL2(NM_019066.5):c.807C>A (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724989" "0" "70" "15" "23892102" "23892111" "del" "0" "02330" "MAGEL2_000188" "g.23892102_23892111del" "" "" "" "MAGEL2(NM_019066.5):c.785_794delCGCCTCCAGC (p.P262Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724990" "0" "50" "15" "23892106" "23892106" "subst" "6.57827E-5" "01943" "MAGEL2_000189" "g.23892106G>T" "" "" "" "MAGEL2(NM_019066.4):c.784C>A (p.P262T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724991" "0" "30" "15" "23892110" "23892110" "subst" "0" "02330" "MAGEL2_000190" "g.23892110G>A" "" "" "" "MAGEL2(NM_019066.5):c.780C>T (p.V260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724992" "0" "30" "15" "23892237" "23892237" "subst" "7.48391E-6" "02330" "MAGEL2_000191" "g.23892237G>A" "" "" "" "MAGEL2(NM_019066.5):c.653C>T (p.P218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724993" "0" "30" "15" "23892238" "23892238" "subst" "0.000171896" "02330" "MAGEL2_000192" "g.23892238G>A" "" "" "" "MAGEL2(NM_019066.5):c.652C>T (p.P218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724994" "0" "30" "15" "23892297" "23892297" "subst" "0" "02330" "MAGEL2_000193" "g.23892297G>A" "" "" "" "MAGEL2(NM_019066.5):c.593C>T (p.P198L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724995" "0" "30" "15" "23892299" "23892328" "del" "0" "02330" "MAGEL2_000062" "g.23892299_23892328del" "" "" "" "MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724996" "0" "50" "15" "23892343" "23892343" "subst" "8.12982E-6" "01943" "MAGEL2_000194" "g.23892343G>A" "" "" "" "MAGEL2(NM_019066.4):c.547C>T (p.P183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724997" "0" "30" "15" "23892386" "23892415" "del" "0" "02330" "MAGEL2_000120" "g.23892386_23892415del" "" "" "" "MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724998" "0" "30" "15" "23892396" "23892396" "subst" "0.000490617" "02330" "MAGEL2_000121" "g.23892396G>A" "" "" "" "MAGEL2(NM_019066.4):c.494C>T (p.P165L), MAGEL2(NM_019066.5):c.494C>T (p.P165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724999" "0" "30" "15" "23892401" "23892430" "del" "0.000536362" "02330" "MAGEL2_000122" "g.23892401_23892430del" "" "" "" "MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725000" "0" "50" "15" "23892401" "23892430" "del" "0.000536362" "02325" "MAGEL2_000122" "g.23892401_23892430del" "" "" "" "MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725001" "0" "50" "15" "23892633" "23892633" "subst" "3.85535E-5" "02330" "MAGEL2_000170" "g.23892633C>G" "" "" "" "MAGEL2(NM_019066.4):c.257G>C (p.G86A), MAGEL2(NM_019066.5):c.257G>C (p.G86A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806573" "0" "10" "15" "23889233" "23889233" "subst" "0.000345349" "02330" "MAGEL2_000154" "g.23889233C>T" "" "" "" "MAGEL2(NM_019066.4):c.3657G>A (p.A1219=), MAGEL2(NM_019066.5):c.3657G>A (p.A1219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806574" "0" "30" "15" "23889758" "23889758" "subst" "8.12334E-5" "01943" "MAGEL2_000195" "g.23889758C>T" "" "" "" "MAGEL2(NM_019066.4):c.3132G>A (p.S1044=), MAGEL2(NM_019066.5):c.3132G>A (p.S1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806575" "0" "70" "15" "23889922" "23889922" "del" "0" "02327" "MAGEL2_000196" "g.23889922del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806576" "0" "30" "15" "23889977" "23889977" "subst" "1.23734E-5" "01943" "MAGEL2_000197" "g.23889977C>T" "" "" "" "MAGEL2(NM_019066.4):c.2913G>A (p.E971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806577" "0" "30" "15" "23890178" "23890178" "subst" "0" "01943" "MAGEL2_000198" "g.23890178G>A" "" "" "" "MAGEL2(NM_019066.4):c.2712C>T (p.A904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806578" "0" "30" "15" "23890231" "23890231" "subst" "0.00028026" "01943" "MAGEL2_000199" "g.23890231G>A" "" "" "" "MAGEL2(NM_019066.4):c.2659C>T (p.R887W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806579" "0" "50" "15" "23890347" "23890347" "subst" "6.90697E-5" "01943" "MAGEL2_000200" "g.23890347G>C" "" "" "" "MAGEL2(NM_019066.4):c.2543C>G (p.S848W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806580" "0" "30" "15" "23890472" "23890472" "subst" "0.000706697" "01943" "MAGEL2_000201" "g.23890472G>A" "" "" "" "MAGEL2(NM_019066.4):c.2418C>T (p.G806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806581" "0" "50" "15" "23890528" "23890528" "subst" "0.000146261" "01943" "MAGEL2_000029" "g.23890528T>A" "" "" "" "MAGEL2(NM_019066.4):c.2362A>T (p.S788C, p.(Ser788Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806582" "0" "50" "15" "23890622" "23890622" "subst" "0" "01943" "MAGEL2_000202" "g.23890622G>C" "" "" "" "MAGEL2(NM_019066.4):c.2268C>G (p.F756L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806583" "0" "50" "15" "23890968" "23890968" "subst" "3.17538E-5" "02330" "MAGEL2_000203" "g.23890968G>T" "" "" "" "MAGEL2(NM_019066.5):c.1922C>A (p.P641H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806584" "0" "30" "15" "23891003" "23891003" "subst" "0.000139755" "01943" "MAGEL2_000204" "g.23891003G>A" "" "" "" "MAGEL2(NM_019066.4):c.1887C>T (p.P629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806585" "0" "30" "15" "23891147" "23891147" "subst" "0" "01943" "MAGEL2_000205" "g.23891147G>A" "" "" "" "MAGEL2(NM_019066.4):c.1743C>T (p.H581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806586" "0" "30" "15" "23891366" "23891366" "subst" "0" "01943" "MAGEL2_000206" "g.23891366G>A" "" "" "" "MAGEL2(NM_019066.4):c.1524C>T (p.A508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806587" "0" "50" "15" "23891473" "23891473" "subst" "0" "01943" "MAGEL2_000207" "g.23891473G>A" "" "" "" "MAGEL2(NM_019066.4):c.1417C>T (p.R473C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806588" "0" "30" "15" "23891480" "23891521" "del" "0" "02330" "MAGEL2_000208" "g.23891480_23891521del" "" "" "" "MAGEL2(NM_019066.5):c.1386_1427del (p.A463_P476del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806589" "0" "30" "15" "23891482" "23891502" "del" "0" "02330" "MAGEL2_000173" "g.23891482_23891502del" "" "" "" "MAGEL2(NM_019066.4):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del), MAGEL2(NM_019066.5):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806590" "0" "50" "15" "23891526" "23891526" "subst" "0" "02330" "MAGEL2_000209" "g.23891526G>T" "" "" "" "MAGEL2(NM_019066.5):c.1364C>A (p.P455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806591" "0" "30" "15" "23891563" "23891583" "del" "9.72384E-5" "01943" "MAGEL2_000210" "g.23891563_23891583del" "" "" "" "MAGEL2(NM_019066.4):c.1326_1346delGGTGATCCGCCAGGCCCCACC (p.P456_P462del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806592" "0" "30" "15" "23891666" "23891666" "subst" "0" "01943" "MAGEL2_000211" "g.23891666G>A" "" "" "" "MAGEL2(NM_019066.4):c.1224C>T (p.P408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806593" "0" "50" "15" "23891694" "23891694" "subst" "0" "02330" "MAGEL2_000212" "g.23891694G>C" "" "" "" "MAGEL2(NM_019066.5):c.1196C>G (p.P399R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806594" "0" "50" "15" "23891865" "23891865" "subst" "0" "01943" "MAGEL2_000213" "g.23891865G>T" "" "" "" "MAGEL2(NM_019066.4):c.1025C>A (p.S342Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806595" "0" "30" "15" "23891971" "23891971" "subst" "0.000606832" "02330" "MAGEL2_000055" "g.23891971G>A" "" "" "" "MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806596" "0" "30" "15" "23892044" "23892044" "subst" "7.29671E-6" "01943" "MAGEL2_000214" "g.23892044T>C" "" "" "" "MAGEL2(NM_019066.4):c.846A>G (p.P282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806597" "0" "30" "15" "23892083" "23892083" "subst" "0.000131491" "01943" "MAGEL2_000187" "g.23892083G>T" "" "" "" "MAGEL2(NM_019066.4):c.807C>A (p.T269=), MAGEL2(NM_019066.5):c.807C>A (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806598" "0" "30" "15" "23892116" "23892116" "subst" "1.46278E-5" "01943" "MAGEL2_000215" "g.23892116C>T" "" "" "" "MAGEL2(NM_019066.4):c.774G>A (p.P258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806599" "0" "30" "15" "23892311" "23892311" "subst" "0.000130433" "01943" "MAGEL2_000216" "g.23892311G>A" "" "" "" "MAGEL2(NM_019066.4):c.579C>T (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806600" "0" "30" "15" "23892386" "23892415" "del" "0" "02325" "MAGEL2_000120" "g.23892386_23892415del" "" "" "" "MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806601" "0" "30" "15" "23892425" "23892425" "subst" "7.47842E-6" "01943" "MAGEL2_000217" "g.23892425C>T" "" "" "" "MAGEL2(NM_019066.4):c.465G>A (p.P155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806602" "0" "50" "15" "23892579" "23892579" "subst" "0" "02330" "MAGEL2_000218" "g.23892579G>A" "" "" "" "MAGEL2(NM_019066.5):c.311C>T (p.T104I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853945" "0" "50" "15" "23889919" "23889919" "subst" "0.000252082" "01943" "MAGEL2_000015" "g.23889919C>T" "" "" "" "MAGEL2(NM_019066.4):c.2971G>A (p.V991I), MAGEL2(NM_019066.5):c.2971G>A (p.V991I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853946" "0" "30" "15" "23890592" "23890592" "subst" "1.21942E-5" "02330" "MAGEL2_000222" "g.23890592T>C" "" "" "" "MAGEL2(NM_019066.5):c.2298A>G (p.R766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853947" "0" "50" "15" "23890707" "23890707" "subst" "8.21274E-6" "01943" "MAGEL2_000223" "g.23890707C>T" "" "" "" "MAGEL2(NM_019066.4):c.2183G>A (p.R728H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853948" "0" "50" "15" "23890732" "23890732" "subst" "5.029E-5" "01943" "MAGEL2_000179" "g.23890732C>G" "" "" "" "MAGEL2(NM_019066.4):c.2158G>C (p.E720Q), MAGEL2(NM_019066.5):c.2158G>C (p.E720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853949" "0" "50" "15" "23890857" "23890857" "subst" "5.57395E-6" "01943" "MAGEL2_000224" "g.23890857G>C" "" "" "" "MAGEL2(NM_019066.4):c.2033C>G (p.P678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853950" "0" "30" "15" "23891270" "23891270" "subst" "0" "01943" "MAGEL2_000226" "g.23891270C>T" "" "" "" "MAGEL2(NM_019066.4):c.1620G>A (p.P540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853951" "0" "30" "15" "23891480" "23891480" "subst" "0" "01943" "MAGEL2_000227" "g.23891480A>G" "" "" "" "MAGEL2(NM_019066.4):c.1410T>C (p.P470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853952" "0" "50" "15" "23891501" "23891521" "del" "0" "01943" "MAGEL2_000228" "g.23891501_23891521del" "" "" "" "MAGEL2(NM_019066.4):c.1386_1406delCGCTGTGATCCGCCAGGCCCC (p.A463_P469del), MAGEL2(NM_019066.5):c.1386_1406delCGCTGTGATCCGCCAGGCCCC (p.A463_P469del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853953" "0" "50" "15" "23891610" "23891610" "subst" "0" "01943" "MAGEL2_000229" "g.23891610G>A" "" "" "" "MAGEL2(NM_019066.4):c.1280C>T (p.P427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853954" "0" "30" "15" "23892341" "23892341" "subst" "6.62723E-5" "02330" "MAGEL2_000167" "g.23892341A>G" "" "" "" "MAGEL2(NM_019066.4):c.549T>C (p.P183=), MAGEL2(NM_019066.5):c.549T>C (p.P183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853955" "0" "30" "15" "23892431" "23892460" "del" "0" "02330" "MAGEL2_000231" "g.23892431_23892460del" "" "" "" "MAGEL2(NM_019066.5):c.448_477delTCCCACCCTCCCCCTCCGGGGACCCCAATG (p.S150_M159del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853956" "0" "30" "15" "23892505" "23892505" "subst" "0.000977467" "02330" "MAGEL2_000069" "g.23892505T>C" "" "" "" "MAGEL2(NM_019066.4):c.385A>G (p.M129V), MAGEL2(NM_019066.5):c.385A>G (p.M129V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853957" "0" "30" "15" "23892665" "23892665" "subst" "0.00160284" "02330" "MAGEL2_000072" "g.23892665C>T" "" "" "" "MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853958" "0" "50" "15" "23892852" "23892852" "subst" "0" "01943" "MAGEL2_000232" "g.23892852G>A" "" "" "" "MAGEL2(NM_019066.4):c.38C>T (p.P13L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863756" "0" "50" "15" "23889348" "23889348" "subst" "0" "01943" "MAGEL2_000219" "g.23889348T>C" "" "" "" "MAGEL2(NM_019066.4):c.3542A>G (p.E1181G), MAGEL2(NM_019066.5):c.3542A>G (p.(Glu1181Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863757" "0" "50" "15" "23889762" "23889762" "subst" "2.0307E-5" "01943" "MAGEL2_000220" "g.23889762C>T" "" "" "" "MAGEL2(NM_019066.4):c.3128G>A (p.R1043H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863758" "0" "50" "15" "23889844" "23889844" "subst" "0.000495572" "01943" "MAGEL2_000089" "g.23889844G>A" "" "" "" "MAGEL2(NM_019066.4):c.3046C>T (p.P1016S, p.(Pro1016Ser)), MAGEL2(NM_019066.5):c.3046C>T (p.P1016S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863759" "0" "30" "15" "23889919" "23889919" "subst" "0.000252082" "02330" "MAGEL2_000015" "g.23889919C>T" "" "" "" "MAGEL2(NM_019066.4):c.2971G>A (p.V991I), MAGEL2(NM_019066.5):c.2971G>A (p.V991I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863760" "0" "50" "15" "23890071" "23890071" "subst" "1.22028E-5" "01943" "MAGEL2_000221" "g.23890071G>C" "" "" "" "MAGEL2(NM_019066.4):c.2819C>G (p.P940R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863761" "0" "50" "15" "23890862" "23890862" "subst" "0" "01943" "MAGEL2_000225" "g.23890862C>A" "" "" "" "MAGEL2(NM_019066.4):c.2028G>T (p.E676D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863762" "0" "50" "15" "23892196" "23892196" "subst" "0" "01943" "MAGEL2_000230" "g.23892196G>A" "" "" "" "MAGEL2(NM_019066.4):c.694C>T (p.P232S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863763" "0" "30" "15" "23892299" "23892328" "del" "0" "01943" "MAGEL2_000062" "g.23892299_23892328del" "" "" "" "MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863764" "0" "30" "15" "23892617" "23892617" "subst" "0.00093738" "02330" "MAGEL2_000151" "g.23892617C>T" "" "" "" "MAGEL2(NM_019066.4):c.273G>A (p.P91=), MAGEL2(NM_019066.5):c.273G>A (p.P91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881129" "0" "90" "15" "23890900" "23890900" "dup" "0" "02300" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.1996dupC" "ACMG PVS1, PS2, PM2, PP3, PP5" "De novo" "" "rs770374710" "0" "" "" "g.23645753dup" "" "pathogenic (dominant)" "ACMG" "0000891968" "0" "50" "15" "23890087" "23890087" "subst" "4.06494E-6" "02325" "MAGEL2_000233" "g.23890087C>T" "" "" "" "MAGEL2(NM_019066.5):c.2803G>A (p.E935K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891969" "0" "90" "15" "23890855" "23890856" "dup" "0" "02329" "MAGEL2_000234" "g.23890855_23890856dup" "" "" "" "MAGEL2(NM_019066.5):c.2037_2038dupAC (p.L680Hfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891970" "0" "30" "15" "23890898" "23890898" "subst" "0" "02330" "MAGEL2_000235" "g.23890898G>A" "" "" "" "MAGEL2(NM_019066.5):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891971" "0" "30" "15" "23890979" "23890979" "subst" "8.6299E-5" "02330" "MAGEL2_000139" "g.23890979C>T" "" "" "" "MAGEL2(NM_019066.4):c.1911G>A (p.R637=), MAGEL2(NM_019066.5):c.1911G>A (p.R637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891972" "0" "30" "15" "23891543" "23891563" "del" "0" "02325" "MAGEL2_000041" "g.23891543_23891563del" "" "" "" "MAGEL2(NM_019066.4):c.1365_1385del (p.(Pro456_Pro462del)), MAGEL2(NM_019066.4):c.1365_1385delACCCGTGATCCGCCAGGCCCC (p.P456_P462del), MAGEL2(NM_019...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891973" "0" "30" "15" "23891564" "23891564" "subst" "3.50828E-5" "02330" "MAGEL2_000236" "g.23891564C>T" "" "" "" "MAGEL2(NM_019066.5):c.1326G>A (p.P442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891974" "0" "50" "15" "23891661" "23891661" "subst" "0" "02329" "MAGEL2_000237" "g.23891661C>A" "" "" "" "MAGEL2(NM_019066.5):c.1229G>T (p.R410L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891975" "0" "30" "15" "23892830" "23892830" "subst" "0" "02330" "MAGEL2_000238" "g.23892830C>G" "" "" "" "MAGEL2(NM_019066.5):c.60G>C (p.P20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909219" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Falb 2023:34740919}, {DOI:Falb 2023:10.1136/jmedgenet-2021-108064}" "" "" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (dominant)" "" "0000914265" "0" "30" "15" "23892350" "23892379" "del" "0" "02330" "MAGEL2_000239" "g.23892350_23892379del" "" "" "" "MAGEL2(NM_019066.5):c.539_568delTGCATCCTCCTCCTCCGGGGACCCCGATGG (p.V180_M189del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925934" "0" "30" "15" "23889169" "23889169" "subst" "0.000157005" "02330" "MAGEL2_000007" "g.23889169C>T" "" "" "" "MAGEL2(NM_019066.4):c.3721G>A (p.G1241S), MAGEL2(NM_019066.5):c.3721G>A (p.G1241S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925935" "0" "30" "15" "23891033" "23891033" "subst" "0" "02330" "MAGEL2_000240" "g.23891033G>A" "" "" "" "MAGEL2(NM_019066.5):c.1857C>T (p.A619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925936" "0" "30" "15" "23891103" "23891103" "subst" "5.53023E-5" "02330" "MAGEL2_000241" "g.23891103A>G" "" "" "" "MAGEL2(NM_019066.5):c.1787T>C (p.V596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925937" "0" "30" "15" "23891309" "23891309" "subst" "0" "02330" "MAGEL2_000142" "g.23891309C>T" "" "" "" "MAGEL2(NM_019066.4):c.1581G>A (p.P527=), MAGEL2(NM_019066.5):c.1581G>A (p.P527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927614" "0" "50" "15" "23891887" "23891887" "subst" "0" "03779" "MAGEL2_000242" "g.23891887G>T" "" "" "" "" "" "Unknown" "" "rs1054820321" "0" "" "" "" "" "VUS" "" "0000930359" "0" "30" "15" "23889633" "23889633" "subst" "2.84289E-5" "02330" "MAGEL2_000243" "g.23889633G>T" "" "" "" "MAGEL2(NM_019066.5):c.3257C>A (p.A1086D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930360" "0" "30" "15" "23889844" "23889844" "subst" "0.000495572" "02330" "MAGEL2_000089" "g.23889844G>A" "" "" "" "MAGEL2(NM_019066.4):c.3046C>T (p.P1016S, p.(Pro1016Ser)), MAGEL2(NM_019066.5):c.3046C>T (p.P1016S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930362" "0" "30" "15" "23892484" "23892484" "subst" "0.000388706" "02330" "MAGEL2_000245" "g.23892484C>T" "" "" "" "MAGEL2(NM_019066.5):c.406G>A (p.G136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950313" "0" "10" "15" "23890253" "23890253" "subst" "1.62516E-5" "02330" "MAGEL2_000246" "g.23890253T>C" "" "" "" "MAGEL2(NM_019066.5):c.2637A>G (p.P879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950314" "0" "30" "15" "23891911" "23891911" "subst" "0.000150925" "02330" "MAGEL2_000247" "g.23891911C>T" "" "" "" "MAGEL2(NM_019066.5):c.979G>A (p.A327T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950315" "0" "30" "15" "23892078" "23892078" "subst" "4.38142E-5" "02330" "MAGEL2_000116" "g.23892078G>C" "" "" "" "MAGEL2(NM_019066.4):c.812C>G (p.P271R), MAGEL2(NM_019066.5):c.812C>G (p.P271R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950316" "0" "30" "15" "23892101" "23892101" "subst" "1.46349E-5" "02330" "MAGEL2_000248" "g.23892101A>G" "" "" "" "MAGEL2(NM_019066.5):c.789T>C (p.P263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952570" "1" "50" "15" "23891235" "23891235" "subst" "0" "00006" "MAGEL2_000249" "g.23891235G>C" "" "{PMID:Sarker 2023:38057384}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646088G>C" "" "VUS" "" "0000967646" "0" "50" "15" "23889636" "23889636" "subst" "0" "02330" "MAGEL2_000250" "g.23889636T>A" "" "" "" "MAGEL2(NM_019066.5):c.3254A>T (p.H1085L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967647" "0" "30" "15" "23889758" "23889758" "subst" "8.12334E-5" "02330" "MAGEL2_000195" "g.23889758C>T" "" "" "" "MAGEL2(NM_019066.4):c.3132G>A (p.S1044=), MAGEL2(NM_019066.5):c.3132G>A (p.S1044=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967648" "0" "70" "15" "23890026" "23890026" "dup" "0" "01943" "MAGEL2_000251" "g.23890026dup" "" "" "" "MAGEL2(NM_019066.4):c.2864dupT (p.S956Efs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967650" "0" "30" "15" "23890151" "23890151" "subst" "8.12638E-6" "02330" "MAGEL2_000252" "g.23890151G>C" "" "" "" "MAGEL2(NM_019066.5):c.2739C>G (p.P913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967652" "0" "30" "15" "23890673" "23890673" "subst" "1.22243E-5" "02330" "MAGEL2_000253" "g.23890673C>T" "" "" "" "MAGEL2(NM_019066.5):c.2217G>A (p.S739=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967653" "0" "30" "15" "23891148" "23891148" "subst" "2.77886E-5" "02330" "MAGEL2_000162" "g.23891148T>G" "" "" "" "MAGEL2(NM_019066.4):c.1742A>C (p.H581P), MAGEL2(NM_019066.5):c.1742A>C (p.H581P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967654" "0" "30" "15" "23891354" "23891354" "subst" "0" "02330" "MAGEL2_000254" "g.23891354C>T" "" "" "" "MAGEL2(NM_019066.5):c.1536G>A (p.P512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967657" "0" "30" "15" "23891482" "23891502" "del" "0" "02329" "MAGEL2_000173" "g.23891482_23891502del" "" "" "" "MAGEL2(NM_019066.4):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del), MAGEL2(NM_019066.5):c.1425_1445delCCCACCTGTGATCCGCCAGGC (p.V485_P491del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967664" "0" "30" "15" "23892846" "23892846" "subst" "0.000486044" "02330" "MAGEL2_000255" "g.23892846G>A" "" "" "" "MAGEL2(NM_019066.5):c.44C>T (p.A15V, p.(Ala15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981106" "0" "50" "15" "23889275" "23889275" "subst" "2.03069E-5" "01804" "MAGEL2_000256" "g.23889275A>T" "" "" "" "MAGEL2(NM_019066.5):c.3615T>A (p.(His1205Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981107" "0" "30" "15" "23889502" "23889502" "subst" "0.000182798" "01804" "MAGEL2_000175" "g.23889502C>T" "" "" "" "MAGEL2(NM_019066.5):c.3388G>A (p.D1130N, p.(Asp1130Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981108" "0" "30" "15" "23889617" "23889617" "subst" "8.12242E-6" "02330" "MAGEL2_000084" "g.23889617G>A" "" "" "" "MAGEL2(NM_019066.4):c.3273C>T (p.N1091=), MAGEL2(NM_019066.5):c.3273C>T (p.N1091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981109" "0" "30" "15" "23890248" "23890248" "subst" "5.68727E-5" "01804" "MAGEL2_000135" "g.23890248C>T" "" "" "" "MAGEL2(NM_019066.5):c.2642G>A (p.(Arg881His), p.R881H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981110" "0" "30" "15" "23891170" "23891170" "subst" "9.40502E-5" "01804" "MAGEL2_000163" "g.23891170G>C" "" "" "" "MAGEL2(NM_019066.4):c.1720C>G (p.L574V), MAGEL2(NM_019066.5):c.1720C>G (p.(Leu574Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981111" "0" "50" "15" "23891543" "23891563" "dup" "0" "01804" "MAGEL2_000257" "g.23891543_23891563dup" "" "" "" "MAGEL2(NM_019066.5):c.1365_1385dup (p.(Pro456_Pro462dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981112" "0" "50" "15" "23891627" "23891647" "dup" "0" "01804" "MAGEL2_000258" "g.23891627_23891647dup" "" "" "" "MAGEL2(NM_019066.5):c.1266_1286dup (p.(Ile423_Pro429dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981113" "0" "30" "15" "23892004" "23892004" "subst" "1.4625E-5" "02330" "MAGEL2_000259" "g.23892004C>G" "" "" "" "MAGEL2(NM_019066.5):c.886G>C (p.A296P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981114" "0" "30" "15" "23892212" "23892271" "del" "2.20478E-5" "02330" "MAGEL2_000153" "g.23892212_23892271del" "" "" "" "MAGEL2(NM_019066.5):c.630_689del (p.H211_A230del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981115" "0" "30" "15" "23892311" "23892311" "subst" "0" "02330" "MAGEL2_000260" "g.23892311G>T" "" "" "" "MAGEL2(NM_019066.5):c.579C>A (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981116" "0" "50" "15" "23892577" "23892577" "subst" "7.4782E-6" "01804" "MAGEL2_000150" "g.23892577G>C" "" "" "" "MAGEL2(NM_019066.4):c.313C>G (p.P105A), MAGEL2(NM_019066.5):c.313C>G (p.(Pro105Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001250" "0" "30" "15" "23889752" "23889752" "subst" "3.24931E-5" "02330" "MAGEL2_000261" "g.23889752C>T" "" "" "" "MAGEL2(NM_019066.5):c.3138G>A (p.M1046I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001251" "0" "30" "15" "23891501" "23891521" "del" "0" "02330" "MAGEL2_000228" "g.23891501_23891521del" "" "" "" "MAGEL2(NM_019066.4):c.1386_1406delCGCTGTGATCCGCCAGGCCCC (p.A463_P469del), MAGEL2(NM_019066.5):c.1386_1406delCGCTGTGATCCGCCAGGCCCC (p.A463_P469del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001252" "0" "30" "15" "23892405" "23892405" "subst" "0" "01804" "MAGEL2_000262" "g.23892405G>A" "" "" "" "MAGEL2(NM_019066.4):c.485C>T (p.(Ala162Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015187" "0" "30" "15" "23892849" "23892849" "subst" "0.000525603" "02330" "MAGEL2_000129" "g.23892849G>T" "" "" "" "MAGEL2(NM_019066.4):c.41C>A (p.P14Q), MAGEL2(NM_019066.5):c.41C>A (p.P14Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017380" "0" "90" "15" "23890899" "23890900" "ins" "0" "03544" "MAGEL2_000263" "g.23890899_23890900insA" "" "" "" "" "" "De novo" "-" "rs2140714531" "0" "" "" "g.23645752_23645753insA" "{CV:1073104}" "pathogenic (dominant)" "ACMG" "0001040223" "0" "50" "15" "23889348" "23889348" "subst" "0" "01804" "MAGEL2_000219" "g.23889348T>C" "" "" "" "MAGEL2(NM_019066.4):c.3542A>G (p.E1181G), MAGEL2(NM_019066.5):c.3542A>G (p.(Glu1181Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040224" "0" "30" "15" "23890098" "23890098" "subst" "1.62566E-5" "01804" "MAGEL2_000264" "g.23890098G>A" "" "" "" "MAGEL2(NM_019066.5):c.2792C>T (p.(Ser931Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040225" "0" "50" "15" "23890408" "23890408" "subst" "0" "01804" "MAGEL2_000265" "g.23890408C>A" "" "" "" "MAGEL2(NM_019066.5):c.2482G>T (p.(Val828Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040226" "0" "30" "15" "23890927" "23890927" "subst" "0" "01804" "MAGEL2_000266" "g.23890927A>G" "" "" "" "MAGEL2(NM_019066.5):c.1963T>C (p.(Ser655Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040227" "0" "30" "15" "23892846" "23892846" "subst" "0.000486044" "01804" "MAGEL2_000255" "g.23892846G>A" "" "" "" "MAGEL2(NM_019066.5):c.44C>T (p.A15V, p.(Ala15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047178" "0" "50" "15" "23891359" "23891364" "del" "0" "03820" "MAGEL2_000267" "g.23891359_23891364del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646212_23646217del" "" "VUS" "ACMG" "0001048997" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Heimdorfer 2024:38908375}" "" "" "variant protein evenly distributed between cytoplasm and nucleus (WT predominant cytoplasmic localization); downregulation of snoRNAs (SNORD116, SNORD115, SNORD109A)" "In vitro (cloned)" "-" "" "0" "" "" "g.23645753dup" "" "NA" "" "0001049052" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1996dupC" "presumed paternal germline mosaicism" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (dominant)" "" "0001049083" "11" "90" "15" "23889768" "23889768" "del" "0" "00006" "MAGEL2_000271" "g.23889768del" "" "{PMID:Patak 2019:31397880}" "" "3122delT" "" "De novo" "" "" "0" "" "" "g.23644621del" "" "pathogenic (recessive)" "" "0001049084" "11" "90" "15" "23891277" "23891277" "subst" "0" "00006" "MAGEL2_000285" "g.23891277G>T" "" "{PMID:Patak 2019:31397880}" "" "" "" "De novo" "" "" "0" "" "" "g.23646130G>T" "" "pathogenic (recessive)" "" "0001049085" "11" "90" "15" "23890893" "23890894" "dup" "0" "00006" "MAGEL2_000279" "g.23890893_23890894dup" "" "{PMID:Patak 2019:31397880}" "" "" "0.04 mosaicism in father" "De novo" "" "" "0" "" "" "g.23645746_23645747dup" "" "pathogenic (dominant)" "" "0001049086" "11" "90" "15" "23889721" "23889721" "subst" "0" "00006" "MAGEL2_000270" "g.23889721C>A" "" "{PMID:Patak 2019:31397880}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23644574C>A" "" "pathogenic (recessive)" "" "0001049087" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Patak 2019:31397880}" "" "" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (recessive)" "" "0001049098" "11" "90" "15" "23890900" "23890900" "del" "0" "00006" "MAGEL2_000100" "g.23890900del" "" "{PMID:Mejlachowicz 2015:26365340}" "" "1996delC" "variant inherited from paternal grandmother" "Germline" "" "" "0" "" "" "g.23645753del" "" "pathogenic (paternal)" "" "0001049099" "11" "90" "15" "23890900" "23890900" "del" "0" "00006" "MAGEL2_000100" "g.23890900del" "" "{PMID:Mejlachowicz 2015:26365340}" "" "1997delC" "variant inherited from paternal grandmother" "Germline" "" "" "0" "" "" "g.23645753del" "" "pathogenic (recessive)" "" "0001049100" "11" "90" "15" "23890900" "23890900" "del" "0" "00006" "MAGEL2_000100" "g.23890900del" "" "{PMID:Mejlachowicz 2015:26365340}" "" "1998delC" "variant inherited from paternal grandmother" "Germline" "" "" "0" "" "" "g.23645753del" "" "pathogenic (dominant)" "" "0001049101" "11" "90" "15" "23890775" "23890775" "del" "0" "00006" "MAGEL2_000276" "g.23890775del" "" "{PMID:Mejlachowicz 2015:26365340}" "" "2118delT" "" "De novo" "" "" "0" "" "" "g.23645628del" "" "pathogenic (recessive)" "" "0001049102" "0" "10" "15" "23889739" "23889739" "subst" "0.0313713" "00006" "MAGEL2_000012" "g.23889739G>T" "" "{PMID:Mejlachowicz 2015:26365340}" "" "" "maternal allele not expressed" "Germline" "" "rs2233070" "0" "" "" "g.23644592G>T" "" "benign" "" "0001049106" "11" "90" "15" "23890978" "23890978" "subst" "0" "00006" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Urreizti 2017:28281571}" "" "" "" "De novo" "" "" "0" "" "" "g.23645831G>A" "" "pathogenic (paternal)" "" "0001049107" "21" "50" "15" "23890996" "23890996" "subst" "0" "00006" "MAGEL2_000101" "g.23890996C>T" "" "{PMID:Urreizti 2017:28281571}" "" "" "" "Germline" "" "" "0" "" "" "g.23645849C>T" "" "VUS" "" "0001049108" "21" "30" "15" "23891543" "23891563" "del" "0" "00006" "MAGEL2_000041" "g.23891543_23891563del" "" "{PMID:Urreizti 2017:28281571}" "" "1344_1385ACCCGTGATCCGCCAGGCCCC[1]" "" "Germline" "" "rs774629250" "0" "" "" "g.23646396_23646416del" "" "likely benign" "" "0001049109" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1996dupC" "presumed paternal germline mosaicism" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (dominant)" "" "0001049137" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049138" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049139" "11" "90" "15" "23889655" "23889655" "subst" "0" "00006" "MAGEL2_000077" "g.23889655C>A" "" "{PMID:Fountain 2017:27195816}" "" "" "" "Germline" "" "" "0" "" "" "g.23644508C>A" "" "pathogenic (paternal)" "" "0001049140" "0" "90" "15" "23890978" "23890978" "subst" "0" "00006" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Fountain 2017:27195816}" "" "" "" "De novo" "" "" "0" "" "" "g.23645831G>A" "" "pathogenic" "" "0001049141" "11" "90" "15" "23890900" "23890900" "del" "0" "00006" "MAGEL2_000100" "g.23890900del" "" "{PMID:Fountain 2017:27195816}" "" "1996delC" "" "Germline" "" "" "0" "" "" "g.23645753del" "" "pathogenic (paternal)" "" "0001049142" "11" "90" "15" "23890900" "23890900" "del" "0" "00006" "MAGEL2_000100" "g.23890900del" "" "{PMID:Fountain 2017:27195816}" "" "1996delC" "" "Germline" "" "" "0" "" "" "g.23645753del" "" "pathogenic (paternal)" "" "0001049143" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049144" "11" "90" "15" "23891269" "23891269" "subst" "0" "00006" "MAGEL2_000284" "g.23891269G>A" "" "{PMID:Fountain 2017:27195816}" "" "" "" "Germline" "" "" "0" "" "" "g.23646122G>A" "" "pathogenic (paternal)" "" "0001049145" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049146" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049147" "0" "90" "15" "23890017" "23890017" "subst" "0" "00006" "MAGEL2_000018" "g.23890017C>T" "" "{PMID:Fountain 2017:27195816}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23644870C>T" "" "pathogenic" "" "0001049148" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049149" "11" "90" "15" "23891313" "23891313" "del" "0" "00006" "MAGEL2_000286" "g.23891313del" "" "{PMID:Fountain 2017:27195816}" "" "1580delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646166del" "" "pathogenic (paternal)" "" "0001049150" "0" "90" "15" "23891088" "23891089" "del" "0" "00006" "MAGEL2_000281" "g.23891088_23891089del" "" "{PMID:Fountain 2017:27195816}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645941_23645942del" "" "pathogenic" "" "0001049151" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049152" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049153" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049154" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Fountain 2017:27195816}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049155" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Palomares‐Bralo 2017:28640240}" "" "1996dupC" "mosaicism in father (2/50 reads)" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049164" "11" "90" "15" "23891263" "23891263" "del" "0" "00006" "MAGEL2_000283" "g.23891263del" "" "{PMID:Tong 2018:29581464}" "" "1628delC" "" "Germline" "" "" "0" "" "" "g.23646116del" "" "pathogenic" "" "0001049167" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Tong 2018:29581464}" "" "1996insC" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049176" "11" "90" "15" "23890978" "23890978" "subst" "0" "00006" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Enya 2018:29359444}" "" "" "variant not in paternal grandmother" "Germline" "yes" "" "0" "" "" "g.23645831G>A" "" "pathogenic (paternal)" "" "0001049177" "11" "90" "15" "23890978" "23890978" "subst" "0" "00006" "MAGEL2_000081" "g.23890978G>A" "" "{PMID:Enya 2018:29359444}" "" "" "" "Germline" "yes" "" "0" "" "" "g.23645831G>A" "" "pathogenic (paternal)" "" "0001049178" "10" "90" "15" "23889759" "23889759" "subst" "0" "00006" "MAGEL2_000268" "g.23889759G>T" "" "{PMID:Enya 2018:29359444}" "" "" "" "De novo" "" "" "0" "" "" "g.23644612G>T" "" "pathogenic (paternal)" "" "0001049179" "11" "90" "15" "23867478" "23889992" "delins" "0" "00006" "MAGEL2_000269" "g.23867478_23889992delins[23867774_23886978inv;TGAA]" "" "{PMID:Jobling 2018:29599419}" "" "" "22 kb inversion and 3 kb deletion removing 3\'end MAGEL2 gene" "Germline" "yes" "" "0" "" "" "g.23622331_23644845delins[23622627_236418318inv;TGAA]" "" "pathogenic (paternal)" "" "0001049180" "0" "90" "15" "23891128" "23891128" "subst" "0" "00006" "MAGEL2_000080" "g.23891128G>A" "" "{PMID:Jobling 2018:29599419}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645981G>A" "" "pathogenic" "" "0001049181" "0" "90" "15" "23891128" "23891128" "subst" "0" "00006" "MAGEL2_000080" "g.23891128G>A" "" "{PMID:Jobling 2018:29599419}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645981G>A" "" "pathogenic" "" "0001049182" "0" "90" "15" "23890711" "23890712" "del" "0" "00006" "MAGEL2_000275" "g.23890711_23890712del" "" "{PMID:Jobling 2018:29599419}" "" "" "" "De novo" "" "" "0" "" "" "g.23645564_23645565del" "" "pathogenic" "" "0001049183" "0" "90" "15" "23890711" "23890712" "del" "0" "00006" "MAGEL2_000275" "g.23890711_23890712del" "" "{PMID:Jobling 2018:29599419}" "" "" "" "De novo" "" "" "0" "" "" "g.23645564_23645565del" "" "pathogenic" "" "0001049184" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Jobling 2018:29599419}" "" "1996dupC" "" "Germline" "" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049185" "11" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Bayat 2018:29660409}" "" "1996dupC" "" "Germline" "yes" "" "0" "" "" "g.23645753dup" "" "pathogenic (paternal)" "" "0001049186" "21" "30" "15" "23892386" "23892415" "del" "0" "00006" "MAGEL2_000120" "g.23892386_23892415del" "" "{PMID:Bayat 2018:29660409}" "" "" "maternal allele not expressed" "Germline" "" "" "0" "" "" "g.23647239_23647268del" "" "likely benign" "" "0001049187" "0" "90" "15" "23890900" "23890900" "dup" "0" "00006" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Matuszewska 2018:29389715}" "" "1996_1997dupC chr15:g.23890893->G" "" "De novo" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049188" "0" "90" "15" "23889996" "23889996" "subst" "0" "00006" "MAGEL2_000274" "g.23889996C>T" "" "{PMID:Matuszewska 2018:29389715}" "" "" "" "De novo" "" "" "0" "" "" "g.23644849C>T" "" "pathogenic" "" "0001049189" "0" "90" "15" "23891269" "23891269" "subst" "0" "02517" "MAGEL2_000284" "g.23891269G>A" "" "{PMID:Negishi 2022:36220858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646122G>A" "" "pathogenic" "" "0001049190" "0" "90" "15" "23891269" "23891269" "subst" "0" "02517" "MAGEL2_000284" "g.23891269G>A" "" "{PMID:Negishi 2022:36220858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646122G>A" "" "pathogenic" "" "0001049191" "0" "90" "15" "23891216" "23891216" "del" "0" "02517" "MAGEL2_000282" "g.23891216del" "" "{PMID:Negishi 2022:36220858}" "" "1676delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23646069del" "" "pathogenic" "" "0001049192" "0" "90" "15" "23890894" "23890894" "subst" "0" "02517" "MAGEL2_000280" "g.23890894G>A" "" "{PMID:Negishi 2022:36220858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645747G>A" "" "pathogenic" "" "0001049193" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049194" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049195" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049196" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049197" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049198" "0" "90" "15" "23890900" "23890900" "dup" "0" "02517" "MAGEL2_000005" "g.23890900dup" "" "{PMID:Negishi 2022:36220858}" "" "1996dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645753dup" "" "pathogenic" "" "0001049199" "0" "90" "15" "23890885" "23890885" "subst" "0" "02517" "MAGEL2_000278" "g.23890885G>A" "" "{PMID:Negishi 2022:36220858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645738G>A" "" "pathogenic" "" "0001049200" "0" "90" "15" "23890795" "23890795" "del" "0" "02517" "MAGEL2_000277" "g.23890795del" "" "{PMID:Negishi 2022:36220858}" "" "2099delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23645648del" "" "pathogenic" "" "0001049201" "0" "90" "15" "23889981" "23889981" "subst" "0" "02517" "MAGEL2_000273" "g.23889981C>T" "" "{PMID:Negishi 2022:36220858}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23644834C>T" "" "pathogenic" "" "0001049202" "0" "90" "15" "23889954" "23889954" "dup" "0" "02517" "MAGEL2_000272" "g.23889954dup" "" "{PMID:Negishi 2022:36220858}" "" "2936dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23644807dup" "" "pathogenic" "" "0001055010" "0" "50" "15" "23891406" "23891406" "subst" "0" "01804" "MAGEL2_000287" "g.23891406T>C" "" "" "" "MAGEL2(NM_019066.5):c.1484A>G (p.(Gln495Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055011" "0" "50" "15" "23892685" "23892685" "subst" "0" "01804" "MAGEL2_000288" "g.23892685G>T" "" "" "" "MAGEL2(NM_019066.5):c.205C>A (p.(Gln69Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057703" "0" "70" "15" "23891901" "23891901" "dup" "0" "03779" "chr15_006406" "g.23891901dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MAGEL2 ## Count = 424 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000018075" "00011687" "95" "1652" "0" "1652" "0" "c.1652del" "r.(?)" "p.(Val551Aspfs*151)" "1" "0000019146" "00011687" "95" "1802" "0" "1802" "0" "c.1802del" "r.(?)" "p.(Pro601Glnfs*101)" "1" "0000019147" "00011687" "95" "3181" "0" "3182" "0" "c.3181_3182del" "r.(?)" "p.(Ile1061Hisfs*7)" "1" "0000019148" "00011687" "95" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Gln1042*)" "1" "0000130090" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666Profs*47)" "" "0000240208" "00011687" "90" "1800" "0" "1800" "0" "c.1800del" "r.(?)" "p.(Pro601Glnfs*101)" "" "0000253510" "00011687" "10" "1446" "0" "1446" "0" "c.1446T>C" "r.(?)" "p.(Ala482=)" "" "0000253538" "00011687" "10" "678" "0" "678" "0" "c.678T>G" "r.(?)" "p.(Gly226=)" "" "0000254869" "00011687" "30" "1044" "0" "1044" "0" "c.1044T>C" "r.(?)" "p.(Pro348=)" "" "0000254879" "00011687" "30" "183" "0" "183" "0" "c.183T>C" "r.(?)" "p.(Pro61=)" "" "0000254962" "00011687" "30" "3012" "0" "3012" "0" "c.3012T>C" "r.(?)" "p.(Ser1004=)" "" "0000279543" "00011687" "30" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Ala761Pro)" "" "0000279545" "00011687" "10" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Thr1006Ser)" "" "0000282356" "00011687" "50" "609" "0" "638" "0" "c.609_638del" "r.(?)" "p.(His221_Ala230del)" "" "0000286069" "00011687" "10" "1038" "0" "1038" "0" "c.1038G>C" "r.(?)" "p.(Arg346Ser)" "" "0000286070" "00011687" "10" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "" "0000286071" "00011687" "30" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" "" "0000286072" "00011687" "30" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0000286073" "00011687" "30" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Pro435Leu)" "" "0000286074" "00011687" "10" "1387" "0" "1387" "0" "c.1387G>C" "r.(?)" "p.(Ala463Pro)" "" "0000286075" "00011687" "30" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Ala761Pro)" "" "0000286076" "00011687" "30" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Ala764Thr)" "" "0000286077" "00011687" "30" "2611" "0" "2611" "0" "c.2611G>T" "r.(?)" "p.(Ala871Ser)" "" "0000286078" "00011687" "30" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "" "0000286079" "00011687" "10" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000286080" "00011687" "10" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Thr1006Ser)" "" "0000286081" "00011687" "10" "3151" "0" "3151" "0" "c.3151C>A" "r.(?)" "p.(Leu1051Ile)" "" "0000286082" "00011687" "30" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Pro301Ser)" "" "0000286083" "00011687" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000291363" "00011687" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Pro358Thr)" "" "0000291364" "00011687" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Thr392Met)" "" "0000291365" "00011687" "30" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(Gln393=)" "" "0000291366" "00011687" "30" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0000291367" "00011687" "30" "1365" "0" "1385" "0" "c.1365_1385del" "r.(?)" "p.(Pro456_Pro462del)" "" "0000291368" "00011687" "30" "1404" "0" "1404" "0" "c.1404C>A" "r.(?)" "p.(Ala468=)" "" "0000291369" "00011687" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ala56=)" "" "0000291370" "00011687" "10" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Ile)" "" "0000291371" "00011687" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000291372" "00011687" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Gly806Asp)" "" "0000291373" "00011687" "50" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Tyr819Cys)" "" "0000291374" "00011687" "50" "2591" "0" "2591" "0" "c.2591C>A" "r.(?)" "p.(Ala864Glu)" "" "0000291375" "00011687" "10" "2692" "0" "2692" "0" "c.2692A>G" "r.(?)" "p.(Ser898Gly)" "" "0000291376" "00011687" "50" "2705" "0" "2705" "0" "c.2705C>T" "r.(?)" "p.(Thr902Met)" "" "0000291377" "00011687" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(Ile928=)" "" "0000291378" "00011687" "30" "2847" "0" "2918" "0" "c.2847_2918del" "r.(?)" "p.(Ile954_Arg977del)" "" "0000291379" "00011687" "30" "2886" "0" "2886" "0" "c.2886C>T" "r.(?)" "p.(Ser962=)" "" "0000291380" "00011687" "30" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Thr1006Ser)" "" "0000291381" "00011687" "30" "3612" "0" "3612" "0" "c.3612C>G" "r.(?)" "p.(Leu1204=)" "" "0000291382" "00011687" "30" "3690" "0" "3690" "0" "c.3690G>C" "r.(?)" "p.(Glu1230Asp)" "" "0000291383" "00011687" "30" "3704" "0" "3704" "0" "c.3704C>T" "r.(?)" "p.(Thr1235Ile)" "" "0000291384" "00011687" "30" "385" "0" "385" "0" "c.385A>G" "r.(?)" "p.(Met129Val)" "" "0000291385" "00011687" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(His151=)" "" "0000291386" "00011687" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Pro153=)" "" "0000291387" "00011687" "30" "474" "0" "474" "0" "c.474A>G" "r.(?)" "p.(Pro158=)" "" "0000291388" "00011687" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Pro168=)" "" "0000291389" "00011687" "30" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ala170=)" "" "0000291390" "00011687" "10" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Gly285Arg)" "" "0000323900" "00011687" "30" "3017" "0" "3017" "0" "c.3017C>G" "r.(?)" "p.(Thr1006Ser)" "" "0000323902" "00011687" "50" "2692" "0" "2692" "0" "c.2692A>G" "r.(?)" "p.(Ser898Gly)" "" "0000323903" "00011687" "30" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000323904" "00011687" "50" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Gly806Asp)" "" "0000323905" "00011687" "50" "2408" "0" "2408" "0" "c.2408C>A" "r.(?)" "p.(Ala803Asp)" "" "0000323906" "00011687" "50" "2362" "0" "2362" "0" "c.2362A>T" "r.(?)" "p.(Ser788Cys)" "" "0000323907" "00011687" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Pro699Leu)" "" "0000323908" "00011687" "30" "2074" "0" "2074" "0" "c.2074G>A" "r.(?)" "p.(Val692Ile)" "" "0000323909" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0000323910" "00011687" "30" "1468" "0" "1468" "0" "c.1468C>G" "r.(?)" "p.(Pro490Ala)" "" "0000323911" "00011687" "30" "1423" "0" "1423" "0" "c.1423G>T" "r.(?)" "p.(Ala475Ser)" "" "0000323913" "00011687" "50" "1387" "0" "1387" "0" "c.1387G>C" "r.(?)" "p.(Ala463Pro)" "" "0000323915" "00011687" "50" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0000323917" "00011687" "50" "1266" "0" "1286" "0" "c.1266_1286del" "r.(?)" "p.(Ile423_Pro429del)" "" "0000323918" "00011687" "30" "960" "0" "980" "0" "c.960_980del" "r.(?)" "p.(Pro321_Ala327del)" "" "0000323920" "00011687" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Pro301Ser)" "" "0000323921" "00011687" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Gly285Arg)" "" "0000323923" "00011687" "50" "660" "0" "689" "0" "c.660_689del" "r.(?)" "p.(His221_Ala230del)" "" "0000323925" "00011687" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Ile)" "" "0000323926" "00011687" "50" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Ala170Val)" "" "0000323928" "00011687" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Pro114Leu)" "" "0000345048" "00011687" "90" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Glu1079Ter)" "" "0000347380" "00011687" "30" "3607" "0" "3607" "0" "c.3607A>T" "r.(?)" "p.(Lys1203Ter)" "" "0000349164" "00011687" "70" "2288" "0" "2288" "0" "c.2288C>G" "r.(?)" "p.(Ser763Ter)" "" "0000369798" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "1" "0000369801" "00011687" "90" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Trp587Ter)" "1" "0000369802" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "1" "0000369803" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666Profs*47)" "1" "0000369804" "00011687" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Gln588Ter)" "1" "0000369805" "00011687" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Gln588Ter)" "1" "0000553639" "00011687" "30" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Gly1241Ser)" "" "0000553641" "00011687" "30" "3512" "0" "3512" "0" "c.3512G>A" "r.(?)" "p.(Arg1171Gln)" "" "0000553642" "00011687" "30" "3273" "0" "3273" "0" "c.3273C>T" "r.(?)" "p.(Asn1091=)" "" "0000553643" "00011687" "50" "3163" "0" "3163" "0" "c.3163A>C" "r.(?)" "p.(Lys1055Gln)" "" "0000553644" "00011687" "30" "3151" "0" "3151" "0" "c.3151C>A" "r.(?)" "p.(Leu1051Ile)" "" "0000553645" "00011687" "30" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Val1047Ala)" "" "0000553646" "00011687" "30" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Val1047Ala)" "" "0000553647" "00011687" "30" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Val1047Ala)" "" "0000553648" "00011687" "50" "3086" "0" "3086" "0" "c.3086A>G" "r.(?)" "p.(Gln1029Arg)" "" "0000553649" "00011687" "50" "3055" "0" "3055" "0" "c.3055C>G" "r.(?)" "p.(Pro1019Ala)" "" "0000553650" "00011687" "30" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Pro1016Ser)" "" "0000553651" "00011687" "30" "3003" "0" "3003" "0" "c.3003G>C" "r.(?)" "p.(Pro1001=)" "" "0000553652" "00011687" "30" "2977" "0" "2977" "0" "c.2977G>A" "r.(?)" "p.(Val993Met)" "" "0000553653" "00011687" "50" "2963" "0" "2963" "0" "c.2963C>G" "r.(?)" "p.(Ser988Cys)" "" "0000553654" "00011687" "90" "2954" "0" "2954" "0" "c.2954del" "r.(?)" "p.(Pro985GlnfsTer7)" "" "0000553655" "00011687" "30" "2870" "0" "2870" "0" "c.2870G>T" "r.(?)" "p.(Gly957Val)" "" "0000553656" "00011687" "10" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Pro878Leu)" "" "0000553659" "00011687" "30" "2495" "0" "2495" "0" "c.2495C>G" "r.(?)" "p.(Pro832Arg)" "" "0000553660" "00011687" "30" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Ala761Pro)" "" "0000553661" "00011687" "30" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Ala761Pro)" "" "0000553662" "00011687" "50" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Ala744Thr)" "" "0000553663" "00011687" "50" "2216" "0" "2216" "0" "c.2216C>G" "r.(?)" "p.(Ser739Trp)" "" "0000553664" "00011687" "50" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Cys)" "" "0000553665" "00011687" "30" "2174" "0" "2174" "0" "c.2174C>G" "r.(?)" "p.(Ser725Cys)" "" "0000553666" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.(?)" "p.(Gln666SerfsTer36)" "" "0000553667" "00011687" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Ala632Thr)" "" "0000553668" "00011687" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Ala632Thr)" "" "0000553670" "00011687" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Ala589Val)" "" "0000553671" "00011687" "30" "1677" "0" "1677" "0" "c.1677G>T" "r.(?)" "p.(Pro559=)" "" "0000553672" "00011687" "30" "1658" "0" "1658" "0" "c.1658C>G" "r.(?)" "p.(Ala553Gly)" "" "0000553673" "00011687" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Pro552=)" "" "0000553675" "00011687" "50" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Ala503Thr)" "" "0000553676" "00011687" "30" "1446" "0" "1466" "0" "c.1446_1466del" "r.(?)" "p.(Val485_Pro491del)" "" "0000553677" "00011687" "30" "1423" "0" "1423" "0" "c.1423G>T" "r.(?)" "p.(Ala475Ser)" "" "0000553678" "00011687" "30" "1423" "0" "1423" "0" "c.1423G>T" "r.(?)" "p.(Ala475Ser)" "" "0000553679" "00011687" "10" "1404" "0" "1404" "0" "c.1404C>A" "r.(?)" "p.(Ala468=)" "" "0000553680" "00011687" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Met)" "" "0000553681" "00011687" "50" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "0000553683" "00011687" "50" "1365" "0" "1385" "0" "c.1365_1385del" "r.(?)" "p.(Pro456_Pro462del)" "" "0000553684" "00011687" "10" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Pro435Leu)" "" "0000553685" "00011687" "30" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Pro435Leu)" "" "0000553686" "00011687" "30" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Pro435Leu)" "" "0000553689" "00011687" "30" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "" "0000553690" "00011687" "30" "1038" "0" "1038" "0" "c.1038G>C" "r.(?)" "p.(Arg346Ser)" "" "0000553691" "00011687" "50" "1037" "0" "1037" "0" "c.1037G>T" "r.(?)" "p.(Arg346Met)" "" "0000553692" "00011687" "50" "1022" "0" "1022" "0" "c.1022A>T" "r.(?)" "p.(Gln341Leu)" "" "0000553693" "00011687" "30" "960" "0" "980" "0" "c.960_980del" "r.(?)" "p.(Pro321_Ala327del)" "" "0000553695" "00011687" "30" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Pro271Arg)" "" "0000553696" "00011687" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Met229Ile)" "" "0000553697" "00011687" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Ile)" "" "0000553698" "00011687" "30" "639" "0" "639" "0" "c.639A>C" "r.(?)" "p.(Pro213=)" "" "0000553700" "00011687" "70" "558" "0" "558" "0" "c.558del" "r.(?)" "p.(Thr187ProfsTer52)" "" "0000553701" "00011687" "30" "509" "0" "538" "0" "c.509_538del" "r.(?)" "p.(Ala170_Met179del)" "" "0000553702" "00011687" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Pro165Leu)" "" "0000553704" "00011687" "50" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Met159Val)" "" "0000553705" "00011687" "30" "461" "0" "461" "0" "c.461C>A" "r.(?)" "p.(Pro154His)" "" "0000553706" "00011687" "30" "448" "0" "448" "0" "c.448T>A" "r.(?)" "p.(Ser150Thr)" "" "0000553708" "00011687" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Pro114Leu)" "" "0000553709" "00011687" "30" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Pro78=)" "" "0000553710" "00011687" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000553711" "00011687" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Pro47Leu)" "" "0000553712" "00011687" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14Gln)" "" "0000615170" "00011687" "50" "3155" "0" "3155" "0" "c.3155G>A" "r.(?)" "p.(Arg1052Gln)" "" "0000615171" "00011687" "30" "2817" "0" "2817" "0" "c.2817C>T" "r.(?)" "p.(Thr939=)" "" "0000615172" "00011687" "70" "2821" "0" "2821" "0" "c.2821dup" "r.(?)" "p.(Arg941ProfsTer10)" "" "0000615173" "00011687" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881His)" "" "0000615174" "00011687" "30" "2638" "0" "2638" "0" "c.2638C>T" "r.(?)" "p.(Arg880Cys)" "" "0000615175" "00011687" "30" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Tyr819Cys)" "" "0000615176" "00011687" "90" "2241" "0" "2241" "0" "c.2241del" "r.(?)" "p.(Asp748ThrfsTer3)" "" "0000615177" "00011687" "90" "2153" "0" "2153" "0" "c.2153C>G" "r.(?)" "p.(Ser718Ter)" "" "0000615178" "00011687" "30" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Arg637=)" "" "0000615179" "00011687" "30" "1884" "0" "1884" "0" "c.1884G>A" "r.(?)" "p.(Gln628=)" "" "0000615181" "00011687" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Pro527=)" "" "0000615182" "00011687" "50" "1483" "0" "1483" "0" "c.1483C>G" "r.(?)" "p.(Gln495Glu)" "" "0000615183" "00011687" "50" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Arg480His)" "" "0000615184" "00011687" "30" "1423" "0" "1423" "0" "c.1423G>T" "r.(?)" "p.(Ala475Ser)" "" "0000615185" "00011687" "30" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Cys)" "" "0000615186" "00011687" "50" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Pro407Ser)" "" "0000615187" "00011687" "10" "960" "0" "980" "0" "c.960_980del" "r.(?)" "p.(Pro321_Ala327del)" "" "0000615188" "00011687" "30" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "" "0000615189" "00011687" "50" "474" "0" "503" "0" "c.474_503del" "r.(?)" "p.(Ala170_Met179del)" "" "0000615190" "00011687" "30" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Pro145=)" "" "0000615191" "00011687" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Pro91=)" "" "0000615192" "00011687" "30" "183" "0" "183" "0" "c.183T>C" "r.(?)" "p.(Pro61=)" "" "0000623189" "00011687" "30" "3621" "0" "3621" "0" "c.3621A>G" "r.(?)" "p.(Lys1207=)" "" "0000623190" "00011687" "30" "2884" "0" "2884" "0" "c.2884A>G" "r.(?)" "p.(Ser962Gly)" "" "0000623191" "00011687" "30" "1218" "0" "1218" "0" "c.1218G>A" "r.(?)" "p.(Pro406=)" "" "0000623192" "00011687" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000623193" "00011687" "30" "639" "0" "639" "0" "c.639A>C" "r.(?)" "p.(Pro213=)" "" "0000623194" "00011687" "30" "313" "0" "313" "0" "c.313C>G" "r.(?)" "p.(Pro105Ala)" "" "0000645307" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666Profs*47)" "" "0000649019" "00011687" "90" "3124" "0" "3124" "0" "c.3124C>T" "r.(?)" "p.(Gln1042*)" "" "0000657531" "00011687" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Gln341Ter)" "" "0000657532" "00011687" "30" "630" "0" "689" "0" "c.630_689del" "r.(?)" "p.(His211_Ala230del)" "" "0000675307" "00011687" "70" "1880" "0" "1880" "0" "c.1880G>A" "r.(?)" "p.(Trp627*)" "" "0000675335" "00011687" "70" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Trp965*)" "" "0000675337" "00011687" "70" "1869" "0" "1869" "0" "c.1869dup" "r.(?)" "p.(Thr624Hisfs*89)" "" "0000680102" "00011687" "30" "3657" "0" "3657" "0" "c.3657G>A" "r.(?)" "p.(Ala1219=)" "" "0000680103" "00011687" "50" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Cys)" "" "0000680104" "00011687" "50" "2233" "0" "2233" "0" "c.2233C>G" "r.(?)" "p.(Pro745Ala)" "" "0000680105" "00011687" "50" "2006" "0" "2006" "0" "c.2006A>T" "r.(?)" "p.(Gln669Leu)" "" "0000680106" "00011687" "50" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Pro664Leu)" "" "0000680107" "00011687" "50" "1742" "0" "1742" "0" "c.1742A>C" "r.(?)" "p.(His581Pro)" "" "0000680108" "00011687" "50" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Leu574Val)" "" "0000680109" "00011687" "30" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Thr549Met)" "" "0000680110" "00011687" "50" "1420" "0" "1420" "0" "c.1420C>G" "r.(?)" "p.(Gln474Glu)" "" "0000680111" "00011687" "30" "639" "0" "668" "0" "c.639_668del" "r.(?)" "p.(His221_Ala230del)" "" "0000680112" "00011687" "30" "549" "0" "549" "0" "c.549T>C" "r.(?)" "p.(Pro183=)" "" "0000680113" "00011687" "30" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Pro145Leu)" "" "0000680114" "00011687" "30" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Leu108=)" "" "0000680115" "00011687" "50" "257" "0" "257" "0" "c.257G>C" "r.(?)" "p.(Gly86Ala)" "" "0000691757" "00011687" "50" "3713" "0" "3713" "0" "c.3713G>C" "r.(?)" "p.(Ser1238Thr)" "" "0000691758" "00011687" "30" "2790" "0" "2790" "0" "c.2790C>G" "r.(?)" "p.(Val930=)" "" "0000691759" "00011687" "30" "1425" "0" "1445" "0" "c.1425_1445del" "r.(?)" "p.(Val485_Pro491del)" "" "0000691760" "00011687" "30" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Pro435=)" "" "0000698208" "00011687" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Trp?*)" "" "0000724956" "00011687" "30" "3690" "0" "3690" "0" "c.3690G>C" "r.(?)" "p.(Glu1230Asp)" "" "0000724957" "00011687" "30" "3388" "0" "3388" "0" "c.3388G>A" "r.(?)" "p.(Asp1130Asn)" "" "0000724958" "00011687" "50" "3194" "0" "3194" "0" "c.3194C>A" "r.(?)" "p.(Ala1065Asp)" "" "0000724959" "00011687" "10" "3140" "0" "3140" "0" "c.3140T>C" "r.(?)" "p.(Val1047Ala)" "" "0000724960" "00011687" "50" "3138" "0" "3138" "0" "c.3138G>C" "r.(?)" "p.(Met1046Ile)" "" "0000724961" "00011687" "10" "3012" "0" "3012" "0" "c.3012T>C" "r.(?)" "p.(Ser1004=)" "" "0000724962" "00011687" "10" "2886" "0" "2886" "0" "c.2886C>T" "r.(?)" "p.(Ser962=)" "" "0000724963" "00011687" "90" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Trp958Ter)" "" "0000724964" "00011687" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(Ile928=)" "" "0000724965" "00011687" "30" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Tyr819Cys)" "" "0000724966" "00011687" "30" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Ala764Thr)" "" "0000724967" "00011687" "30" "2290" "0" "2290" "0" "c.2290G>A" "r.(?)" "p.(Ala764Thr)" "" "0000724968" "00011687" "30" "2251" "0" "2251" "0" "c.2251A>G" "r.(?)" "p.(Ile751Val)" "" "0000724969" "00011687" "50" "2158" "0" "2158" "0" "c.2158G>C" "r.(?)" "p.(Glu720Gln)" "" "0000724970" "00011687" "10" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Pro665=)" "" "0000724971" "00011687" "30" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Pro664Leu)" "" "0000724972" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0000724973" "00011687" "30" "1971" "0" "1971" "0" "c.1971A>G" "r.(?)" "p.(Lys657=)" "" "0000724974" "00011687" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "" "0000724975" "00011687" "30" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Ala632Thr)" "" "0000724976" "00011687" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Pro559Leu)" "" "0000724977" "00011687" "50" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" "" "0000724978" "00011687" "30" "1617" "0" "1617" "0" "c.1617G>A" "r.(?)" "p.(Ala539=)" "" "0000724979" "00011687" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Pro490=)" "" "0000724980" "00011687" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Pro490=)" "" "0000724981" "00011687" "50" "1446" "0" "1466" "0" "c.1446_1466del" "r.(?)" "p.(Val485_Pro491del)" "" "0000724982" "00011687" "30" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Met)" "" "0000724983" "00011687" "10" "1365" "0" "1385" "0" "c.1365_1385del" "r.(?)" "p.(Pro456_Pro462del)" "" "0000724984" "00011687" "10" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Pro435=)" "" "0000724985" "00011687" "30" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Pro429Leu)" "" "0000724986" "00011687" "50" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Pro413Leu)" "" "0000724987" "00011687" "70" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Gln341Ter)" "" "0000724988" "00011687" "10" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Thr269=)" "" "0000724989" "00011687" "70" "785" "0" "794" "0" "c.785_794del" "r.(?)" "p.(Pro262Glnfs*3)" "" "0000724990" "00011687" "50" "784" "0" "784" "0" "c.784C>A" "r.(?)" "p.(Pro262Thr)" "" "0000724991" "00011687" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Val260=)" "" "0000724992" "00011687" "30" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Pro218Leu)" "" "0000724993" "00011687" "30" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Pro218Ser)" "" "0000724994" "00011687" "30" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Pro198Leu)" "" "0000724995" "00011687" "30" "609" "0" "638" "0" "c.609_638del" "r.(?)" "p.(His221_Ala230del)" "" "0000724996" "00011687" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Pro183Ser)" "" "0000724997" "00011687" "30" "509" "0" "538" "0" "c.509_538del" "r.(?)" "p.(Ala170_Met179del)" "" "0000724998" "00011687" "30" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Pro165Leu)" "" "0000724999" "00011687" "30" "474" "0" "503" "0" "c.474_503del" "r.(?)" "p.(Ala170_Met179del)" "" "0000725000" "00011687" "50" "474" "0" "503" "0" "c.474_503del" "r.(?)" "p.(Ala170_Met179del)" "" "0000725001" "00011687" "50" "257" "0" "257" "0" "c.257G>C" "r.(?)" "p.(Gly86Ala)" "" "0000806573" "00011687" "10" "3657" "0" "3657" "0" "c.3657G>A" "r.(?)" "p.(Ala1219=)" "" "0000806574" "00011687" "30" "3132" "0" "3132" "0" "c.3132G>A" "r.(?)" "p.(Ser1044=)" "" "0000806575" "00011687" "70" "2970" "0" "2970" "0" "c.2970del" "r.(?)" "p.(Val991*)" "" "0000806576" "00011687" "30" "2913" "0" "2913" "0" "c.2913G>A" "r.(?)" "p.(Glu971=)" "" "0000806577" "00011687" "30" "2712" "0" "2712" "0" "c.2712C>T" "r.(?)" "p.(Ala904=)" "" "0000806578" "00011687" "30" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Arg887Trp)" "" "0000806579" "00011687" "50" "2543" "0" "2543" "0" "c.2543C>G" "r.(?)" "p.(Ser848Trp)" "" "0000806580" "00011687" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Gly806=)" "" "0000806581" "00011687" "50" "2362" "0" "2362" "0" "c.2362A>T" "r.(?)" "p.(Ser788Cys)" "" "0000806582" "00011687" "50" "2268" "0" "2268" "0" "c.2268C>G" "r.(?)" "p.(Phe756Leu)" "" "0000806583" "00011687" "50" "1922" "0" "1922" "0" "c.1922C>A" "r.(?)" "p.(Pro641His)" "" "0000806584" "00011687" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(Pro629=)" "" "0000806585" "00011687" "30" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(His581=)" "" "0000806586" "00011687" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Ala508=)" "" "0000806587" "00011687" "50" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Arg473Cys)" "" "0000806588" "00011687" "30" "1386" "0" "1427" "0" "c.1386_1427del" "r.(?)" "p.(Ala463_Pro476del)" "" "0000806589" "00011687" "30" "1425" "0" "1445" "0" "c.1425_1445del" "r.(?)" "p.(Val485_Pro491del)" "" "0000806590" "00011687" "50" "1364" "0" "1364" "0" "c.1364C>A" "r.(?)" "p.(Pro455Gln)" "" "0000806591" "00011687" "30" "1326" "0" "1346" "0" "c.1326_1346del" "r.(?)" "p.(Pro456_Pro462del)" "" "0000806592" "00011687" "30" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Pro408=)" "" "0000806593" "00011687" "50" "1196" "0" "1196" "0" "c.1196C>G" "r.(?)" "p.(Pro399Arg)" "" "0000806594" "00011687" "50" "1025" "0" "1025" "0" "c.1025C>A" "r.(?)" "p.(Ser342Tyr)" "" "0000806595" "00011687" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "" "0000806596" "00011687" "30" "846" "0" "846" "0" "c.846A>G" "r.(?)" "p.(Pro282=)" "" "0000806597" "00011687" "30" "807" "0" "807" "0" "c.807C>A" "r.(?)" "p.(Thr269=)" "" "0000806598" "00011687" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Pro258=)" "" "0000806599" "00011687" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Pro193=)" "" "0000806600" "00011687" "30" "509" "0" "538" "0" "c.509_538del" "r.(?)" "p.(Ala170_Met179del)" "" "0000806601" "00011687" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(Pro155=)" "" "0000806602" "00011687" "50" "311" "0" "311" "0" "c.311C>T" "r.(?)" "p.(Thr104Ile)" "" "0000853945" "00011687" "50" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Val991Ile)" "" "0000853946" "00011687" "30" "2298" "0" "2298" "0" "c.2298A>G" "r.(?)" "p.(Arg766=)" "" "0000853947" "00011687" "50" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Arg728His)" "" "0000853948" "00011687" "50" "2158" "0" "2158" "0" "c.2158G>C" "r.(?)" "p.(Glu720Gln)" "" "0000853949" "00011687" "50" "2033" "0" "2033" "0" "c.2033C>G" "r.(?)" "p.(Pro678Arg)" "" "0000853950" "00011687" "30" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(Pro540=)" "" "0000853951" "00011687" "30" "1410" "0" "1410" "0" "c.1410T>C" "r.(?)" "p.(Pro470=)" "" "0000853952" "00011687" "50" "1386" "0" "1406" "0" "c.1386_1406del" "r.(?)" "p.(Ala463_Pro469del)" "" "0000853953" "00011687" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Pro427Leu)" "" "0000853954" "00011687" "30" "549" "0" "549" "0" "c.549T>C" "r.(?)" "p.(Pro183=)" "" "0000853955" "00011687" "30" "448" "0" "477" "0" "c.448_477del" "r.(?)" "p.(Ser150_Met159del)" "" "0000853956" "00011687" "30" "385" "0" "385" "0" "c.385A>G" "r.(?)" "p.(Met129Val)" "" "0000853957" "00011687" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000853958" "00011687" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000863756" "00011687" "50" "3542" "0" "3542" "0" "c.3542A>G" "r.(?)" "p.(Glu1181Gly)" "" "0000863757" "00011687" "50" "3128" "0" "3128" "0" "c.3128G>A" "r.(?)" "p.(Arg1043His)" "" "0000863758" "00011687" "50" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Pro1016Ser)" "" "0000863759" "00011687" "30" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Val991Ile)" "" "0000863760" "00011687" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "" "0000863761" "00011687" "50" "2028" "0" "2028" "0" "c.2028G>T" "r.(?)" "p.(Glu676Asp)" "" "0000863762" "00011687" "50" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Pro232Ser)" "" "0000863763" "00011687" "30" "609" "0" "638" "0" "c.609_638del" "r.(?)" "p.(His221_Ala230del)" "" "0000863764" "00011687" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Pro91=)" "" "0000881129" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0000891968" "00011687" "50" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Glu935Lys)" "" "0000891969" "00011687" "90" "2037" "0" "2038" "0" "c.2037_2038dup" "r.(?)" "p.(Leu680Hisfs*23)" "" "0000891970" "00011687" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Pro664=)" "" "0000891971" "00011687" "30" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Arg637=)" "" "0000891972" "00011687" "30" "1365" "0" "1385" "0" "c.1365_1385del" "r.(?)" "p.(Pro456_Pro462del)" "" "0000891973" "00011687" "30" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Pro442=)" "" "0000891974" "00011687" "50" "1229" "0" "1229" "0" "c.1229G>T" "r.(?)" "p.(Arg410Leu)" "" "0000891975" "00011687" "30" "60" "0" "60" "0" "c.60G>C" "r.(?)" "p.(Pro20=)" "" "0000909219" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0000914265" "00011687" "30" "539" "0" "568" "0" "c.539_568del" "r.(?)" "p.(Val180_Met189del)" "" "0000925934" "00011687" "30" "3721" "0" "3721" "0" "c.3721G>A" "r.(?)" "p.(Gly1241Ser)" "" "0000925935" "00011687" "30" "1857" "0" "1857" "0" "c.1857C>T" "r.(?)" "p.(Ala619=)" "" "0000925936" "00011687" "30" "1787" "0" "1787" "0" "c.1787T>C" "r.(?)" "p.(Val596Ala)" "" "0000925937" "00011687" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Pro527=)" "" "0000927614" "00011687" "50" "1003" "0" "1003" "0" "c.1003C>A" "r.(?)" "p.(Pro335Thr)" "" "0000930359" "00011687" "30" "3257" "0" "3257" "0" "c.3257C>A" "r.(?)" "p.(Ala1086Asp)" "" "0000930360" "00011687" "30" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Pro1016Ser)" "" "0000930362" "00011687" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Gly136Arg)" "" "0000950313" "00011687" "10" "2637" "0" "2637" "0" "c.2637A>G" "r.(?)" "p.(=)" "" "0000950314" "00011687" "30" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Ala327Thr)" "" "0000950315" "00011687" "30" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Pro271Arg)" "" "0000950316" "00011687" "30" "789" "0" "789" "0" "c.789T>C" "r.(?)" "p.(=)" "" "0000952570" "00011687" "50" "1655" "0" "1655" "0" "c.1655C>G" "r.(?)" "p.(Pro552Arg)" "1" "0000967646" "00011687" "50" "3254" "0" "3254" "0" "c.3254A>T" "r.(?)" "p.(His1085Leu)" "" "0000967647" "00011687" "30" "3132" "0" "3132" "0" "c.3132G>A" "r.(?)" "p.(Ser1044=)" "" "0000967648" "00011687" "70" "2864" "0" "2864" "0" "c.2864dup" "r.(?)" "p.(Ser956Glufs*28)" "" "0000967650" "00011687" "30" "2739" "0" "2739" "0" "c.2739C>G" "r.(?)" "p.(=)" "" "0000967652" "00011687" "30" "2217" "0" "2217" "0" "c.2217G>A" "r.(?)" "p.(=)" "" "0000967653" "00011687" "30" "1742" "0" "1742" "0" "c.1742A>C" "r.(?)" "p.(His581Pro)" "" "0000967654" "00011687" "30" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(=)" "" "0000967657" "00011687" "30" "1425" "0" "1445" "0" "c.1425_1445del" "r.(?)" "p.(Val485_Pro491del)" "" "0000967664" "00011687" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "" "0000981106" "00011687" "50" "3615" "0" "3615" "0" "c.3615T>A" "r.(?)" "p.(His1205Gln)" "" "0000981107" "00011687" "30" "3388" "0" "3388" "0" "c.3388G>A" "r.(?)" "p.(Asp1130Asn)" "" "0000981108" "00011687" "30" "3273" "0" "3273" "0" "c.3273C>T" "r.(?)" "p.(Asn1091=)" "" "0000981109" "00011687" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881His)" "" "0000981110" "00011687" "30" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Leu574Val)" "" "0000981111" "00011687" "50" "1365" "0" "1385" "0" "c.1365_1385dup" "r.(?)" "p.(Pro456_Pro462dup)" "" "0000981112" "00011687" "50" "1266" "0" "1286" "0" "c.1266_1286dup" "r.(?)" "p.(Ile423_Pro429dup)" "" "0000981113" "00011687" "30" "886" "0" "886" "0" "c.886G>C" "r.(?)" "p.(Ala296Pro)" "" "0000981114" "00011687" "30" "630" "0" "689" "0" "c.630_689del" "r.(?)" "p.(His211_Ala230del)" "" "0000981115" "00011687" "30" "579" "0" "579" "0" "c.579C>A" "r.(?)" "p.(=)" "" "0000981116" "00011687" "50" "313" "0" "313" "0" "c.313C>G" "r.(?)" "p.(Pro105Ala)" "" "0001001250" "00011687" "30" "3138" "0" "3138" "0" "c.3138G>A" "r.(?)" "p.(Met1046Ile)" "" "0001001251" "00011687" "30" "1386" "0" "1406" "0" "c.1386_1406del" "r.(?)" "p.(Ala463_Pro469del)" "" "0001001252" "00011687" "30" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Pro162Leu)" "" "0001015187" "00011687" "30" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14Gln)" "" "0001017380" "00011687" "90" "1990" "0" "1991" "0" "c.1990_1991insT" "r.(?)" "p.(Pro664Leufs*49)" "1" "0001040223" "00011687" "50" "3542" "0" "3542" "0" "c.3542A>G" "r.(?)" "p.(Glu1181Gly)" "" "0001040224" "00011687" "30" "2792" "0" "2792" "0" "c.2792C>T" "r.(?)" "p.(Ser931Leu)" "" "0001040225" "00011687" "50" "2482" "0" "2482" "0" "c.2482G>T" "r.(?)" "p.(Val828Leu)" "" "0001040226" "00011687" "30" "1963" "0" "1963" "0" "c.1963T>C" "r.(?)" "p.(Ser655Pro)" "" "0001040227" "00011687" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "" "0001047178" "00011687" "50" "1527" "0" "1532" "0" "c.1527_1532del" "r.(1527_1532del)" "p.(Gln510_Pro511del)" "" "0001048997" "00011687" "90" "1966" "0" "1966" "0" "c.1966dup" "r.1966dup" "p.Gln656Profs*57" "" "0001049052" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049083" "00011687" "90" "3122" "0" "3122" "0" "c.3122delT" "r.(?)" "p.(Val1041AlafsTer7)" "" "0001049084" "00011687" "90" "1613" "0" "1613" "0" "c.1613C>A" "r.(?)" "p.(Ala538Glu)" "" "0001049085" "00011687" "90" "1996" "0" "1997" "0" "c.1996_1997dup" "r.(?)" "p.(Gln666HisfsTer37)" "" "0001049086" "00011687" "90" "3169" "0" "3169" "0" "c.3169G>T" "r.(?)" "p.(Glu1057Ter)" "" "0001049087" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049098" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.1996del" "p.Gln666SerfsTer36" "" "0001049099" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.1996del" "p.Gln666SerfsTer36" "" "0001049100" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.1996del" "p.Gln666SerfsTer36" "" "0001049101" "00011687" "90" "2118" "0" "2118" "0" "c.2118del" "r.2118del" "p.(Leu708TrpfsTer7)" "" "0001049102" "00011687" "10" "3151" "0" "3151" "0" "c.3151C>A" "r.0" "p.0" "" "0001049106" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "" "0001049107" "00011687" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Ala632Thr)" "" "0001049108" "00011687" "30" "1365" "0" "1385" "0" "c.1365_1385del" "r.(?)" "p.(Pro456_Pro462del)" "" "0001049109" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049137" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049138" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049139" "00011687" "90" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Glu1079Ter)" "" "0001049140" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "" "0001049141" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.(?)" "p.(Gln666SerfsTer36)" "" "0001049142" "00011687" "90" "1996" "0" "1996" "0" "c.1996del" "r.(?)" "p.(Gln666SerfsTer36)" "" "0001049143" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049144" "00011687" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541Ter)" "" "0001049145" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049146" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049147" "00011687" "90" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Trp958Ter)" "" "0001049148" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049149" "00011687" "90" "1580" "0" "1580" "0" "c.1580del" "r.(?)" "p.(Pro527ArgfsTer175)" "" "0001049150" "00011687" "90" "1801" "0" "1802" "0" "c.1801_1802del" "r.(?)" "p.(Pro601AsnfsTer111)" "" "0001049151" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049152" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049153" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049154" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049155" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049164" "00011687" "90" "1628" "0" "1628" "0" "c.1628del" "r.(?)" "p.(Pro543LeufsTer159)" "" "0001049167" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049176" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "" "0001049177" "00011687" "90" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638Ter)" "" "0001049178" "00011687" "90" "3131" "0" "3131" "0" "c.3131C>A" "r.(?)" "p.(Ser1044Ter)" "" "0001049179" "00011687" "90" "2898" "0" "25412" "0" "c.2898_*21662del" "r.?" "p.?" "1_1_" "0001049180" "00011687" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Gln588Ter)" "" "0001049181" "00011687" "90" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Gln588Ter)" "" "0001049182" "00011687" "90" "2179" "0" "2180" "0" "c.2179_2180del" "r.(?)" "p.(Asp727ProfsTer6)" "" "0001049183" "00011687" "90" "2179" "0" "2180" "0" "c.2179_2180del" "r.(?)" "p.(Asp727ProfsTer6)" "" "0001049184" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049185" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.1996dup" "p.Gln666ProfsTer47" "" "0001049186" "00011687" "30" "509" "0" "538" "0" "c.509_538del" "r.0" "p.0" "" "0001049187" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049188" "00011687" "90" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Trp965Ter)" "" "0001049189" "00011687" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541Ter)" "" "0001049190" "00011687" "90" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Gln541Ter)" "" "0001049191" "00011687" "90" "1676" "0" "1676" "0" "c.1676del" "r.(?)" "p.(Pro559ArgfsTer143)" "M" "0001049192" "00011687" "90" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Gln666Ter)" "" "0001049193" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049194" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049195" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049196" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049197" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049198" "00011687" "90" "1996" "0" "1996" "0" "c.1996dup" "r.(?)" "p.(Gln666ProfsTer47)" "" "0001049199" "00011687" "90" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Gln669Ter)" "" "0001049200" "00011687" "90" "2099" "0" "2099" "0" "c.2099del" "r.(?)" "p.(Pro700ArgfsTer2)" "M" "0001049201" "00011687" "90" "2909" "0" "2909" "0" "c.2909G>A" "r.(?)" "p.(Trp970Ter)" "" "0001049202" "00011687" "90" "2936" "0" "2936" "0" "c.2936dup" "r.(?)" "p.(Leu981SerfsTer3)" "" "0001055010" "00011687" "50" "1484" "0" "1484" "0" "c.1484A>G" "r.(?)" "p.(Gln495Arg)" "" "0001055011" "00011687" "50" "205" "0" "205" "0" "c.205C>A" "r.(?)" "p.(Gln69Lys)" "" "0001057703" "00011687" "70" "992" "0" "992" "0" "c.992dup" "r.(?)" "p.(Gln332AlafsTer199)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 86 "{{screeningid}}" "{{variantid}}" "0000001001" "0000018075" "0000001409" "0000019146" "0000001410" "0000019147" "0000001411" "0000019148" "0000081004" "0000130090" "0000147412" "0000240208" "0000165967" "0000369798" "0000165969" "0000369801" "0000165970" "0000369802" "0000165971" "0000369803" "0000165972" "0000369804" "0000165973" "0000369805" "0000289378" "0000645307" "0000292330" "0000649019" "0000308349" "0000675307" "0000308377" "0000675335" "0000308379" "0000675337" "0000316082" "0000698208" "0000420770" "0000881129" "0000429634" "0000909219" "0000445544" "0000952570" "0000459365" "0001017380" "0000467837" "0001047178" "0000468958" "0001049052" "0000468974" "0001049083" "0000468975" "0001049084" "0000468976" "0001049085" "0000468977" "0001049086" "0000468978" "0001049087" "0000468979" "0001049098" "0000468980" "0001049099" "0000468981" "0001049100" "0000468982" "0001049101" "0000468982" "0001049102" "0000468983" "0001049106" "0000468984" "0001049107" "0000468985" "0001049108" "0000468986" "0001049109" "0000468988" "0001049137" "0000468989" "0001049138" "0000468990" "0001049139" "0000468991" "0001049140" "0000468992" "0001049141" "0000468993" "0001049142" "0000468994" "0001049143" "0000468995" "0001049144" "0000468996" "0001049145" "0000468997" "0001049146" "0000468998" "0001049147" "0000468999" "0001049148" "0000469000" "0001049149" "0000469001" "0001049150" "0000469002" "0001049151" "0000469003" "0001049152" "0000469004" "0001049153" "0000469005" "0001049154" "0000469006" "0001049155" "0000469015" "0001049164" "0000469018" "0001049167" "0000469019" "0001049176" "0000469020" "0001049177" "0000469021" "0001049178" "0000469022" "0001049179" "0000469023" "0001049180" "0000469024" "0001049181" "0000469025" "0001049182" "0000469026" "0001049183" "0000469027" "0001049184" "0000469028" "0001049185" "0000469028" "0001049186" "0000469029" "0001049187" "0000469030" "0001049188" "0000469031" "0001049189" "0000469032" "0001049190" "0000469033" "0001049191" "0000469034" "0001049192" "0000469035" "0001049193" "0000469036" "0001049194" "0000469037" "0001049195" "0000469038" "0001049196" "0000469039" "0001049197" "0000469040" "0001049198" "0000469041" "0001049199" "0000469042" "0001049200" "0000469043" "0001049201" "0000469044" "0001049202"