### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTG2) # 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}}" "ACTG2" "actin, gamma 2, smooth muscle, enteric" "2" "p13.1" "unknown" "NG_034140.1" "UD_132464798630" "" "https://www.LOVD.nl/ACTG2" "" "1" "145" "72" "102545" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ACTG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-07-30 19:18:36" "00000" "2025-05-05 21:14:00" ## 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}}" "00000711" "ACTG2" "transcript variant 1" "001" "NM_001615.3" "" "NP_001606.1" "" "" "" "-122" "1209" "1131" "74120093" "74146780" "00000" "2012-09-13 12:49:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01430" "VSCM" "myopathy, visceral (VSCM; megaduodenum and/or megacystis)" "AD" "155310" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06550" "MMIHS" "Megacystis-microcolon-intestinal hypoperistalsis syndrome" "AR" "249210" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ACTG2" "01430" ## Individuals ## Do not remove or alter this header ## ## Count = 81 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00249760" "" "" "" "1" "" "00006" "{PMID:Lehtonen 2012:22960657}" "5-generation family, 7 affected (3F, 4M)" "F;M" "" "Finland" "" "0" "" "" "" "" "00249761" "" "" "" "1" "" "00006" "{PMID:Thorson 2014:24337657}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "family 1" "00249762" "" "" "" "1" "" "00006" "{PMID:Thorson 2014:24337657}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "family 2" "00249763" "" "" "" "1" "" "00006" "{PMID:Holla 2014:24777424}" "2-generation family, 1 affected, father not available" "F" "" "Norway" "" "0" "" "" "" "" "00249764" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam4-1" "00249765" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "" "" "" "" "" "0" "" "" "" "Fam11-1" "00249766" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam12-1" "00249767" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam14-1" "00249768" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam16-1" "00249769" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam25-1" "00249770" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam26-1" "00249771" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam28-1" "00249772" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam29-1" "00249773" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam30-1" "00249774" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam35-1" "00249775" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 1 affected, carrier mother" "F" "" "" "" "0" "" "" "" "Fam13-1" "00249776" "" "" "" "2" "" "00006" "{PMID:Wangler 2014:24676022}" "2-generation family, 2 affected sisters" "F" "" "" "" "0" "" "" "" "Fam19-4" "00249777" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "4-generation family, 6 affected (3F, 3M)" "F;M" "" "" "" "0" "" "" "" "Fam34-1" "00249778" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "" "" "" "" "" "0" "" "" "" "Fam17-1" "00249779" "" "" "" "1" "" "00006" "{PMID:Tuzovic 2015:25998219}" "2-generation family, 2 affected (F, M), unaffected non-carrier parents" "F;M" "" "United States" "" "0" "" "" "" "Family 1" "00249780" "" "" "" "1" "" "00006" "{PMID:Tuzovic 2015:25998219}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Family 2" "00249781" "" "" "" "1" "" "00006" "{PMID:Tuzovic 2015:25998219}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Family 3" "00249782" "" "" "" "1" "" "00006" "{PMID:Klar 2015:25782675}" "1-generation family, 11 affected (5F, 6M)" "F;M" "" "Sweden" "" "0" "" "" "" "" "00249783" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S10" "00249784" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S13" "00249785" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S16" "00249786" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S8" "00249787" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "M" "" "" "" "0" "" "" "" "S9" "00249788" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "M" "" "" "" "0" "" "" "" "S11" "00249789" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S12" "00249790" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S14" "00249791" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "M" "" "" "" "0" "" "" "" "S24" "00249792" "" "" "" "1" "" "00006" "{PMID:Matera 2016:26813947}" "" "F" "" "" "" "0" "" "" "" "S83" "00249793" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S1" "00249794" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S2" "00249795" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "S3" "00249796" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S4" "00249797" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S5" "00249798" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S6" "00249799" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S7" "00249800" "" "" "" "1" "" "00006" "{PMID:Halim 2016:26647307}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "S8" "00249801" "" "" "" "1" "" "00006" "{PMID:Moreno 2016:27481187}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Family 2" "00249802" "" "" "" "1" "" "00006" "{PMID:Moreno 2016:27481187}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Family 3" "00249803" "" "" "" "1" "" "00006" "{PMID:Moreno 2016:27481187}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "Family 4" "00249804" "" "" "" "1" "" "00006" "{PMID:Moreno 2016:27481187}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Family 5" "00249805" "" "" "" "1" "" "00006" "{PMID:Moreno 2016:27481187}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "Family 6" "00249806" "" "" "" "1" "" "00006" "{PMID:Lu 2016:27007401}" "2-generation family, 1 affected" "F" "" "China" "" "0" "" "" "" "Patient 1" "00249807" "" "" "" "1" "" "00006" "{PMID:Lu 2016:27007401}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "Patient 2" "00249808" "" "" "" "1" "" "00006" "{PMID:Lu 2016:27007401}" "2-generation family, 1 affected" "F" "" "China" "" "0" "" "" "" "Patient 3" "00249809" "" "" "" "1" "" "00006" "{PMID:Lu 2016:27007401}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "Patient 4" "00249810" "" "" "" "1" "" "00006" "{PMID:Milunsky 2017:29072330}" "2-generation family, 1 affected fetus" "" "" "United States" "" "0" "" "" "" "" "00249811" "" "" "" "1" "" "00006" "{PMID:Milunsky 2017:28422808}" "2-generation family, 2 affected" "F" "" "United States" "" "0" "" "" "" "FamCase1" "00249812" "" "" "" "1" "" "00006" "{PMID:Milunsky 2017:28422808}" "2-generation family, 1 affected" "F" "" "United States" "" "0" "" "" "" "Case 3" "00249813" "" "" "" "1" "" "00006" "{PMID:Milunsky 2017:28422808}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "Case 4" "00249814" "" "" "" "1" "" "00006" "{PMID:Milunsky 2017:28422808}" "2-generation family, 3 affected (3M)" "M" "" "United States" "" "0" "" "" "" "FamBCase5" "00249815" "" "" "" "1" "" "00006" "{PMID:Whittington 2017:29387497}" "2-generation family, affected mother/son" "F" "" "United States" "" "0" "" "" "" "Fam-mother" "00249816" "" "" "" "1" "" "00006" "{PMID:Whittington 2017:29387497}" "son" "M" "" "United States" "" "0" "" "" "" "Fam-son" "00249817" "" "" "" "1" "" "00006" "{PMID:Korgali 2018:29608093}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00249818" "" "" "" "1" "" "00006" "{PMID:Lee 2019:30334933}" "" "F" "" "" "" "0" "" "" "" "1" "00249819" "" "" "" "1" "" "00006" "{PMID:Lee 2019:30334933}" "" "F" "" "" "" "0" "" "" "" "2" "00249820" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "3-generation family, 4 affected (4M)" "M" "" "Australia" "" "0" "" "" "" "Fam1" "00249821" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "Pat2" "00249822" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "F" "" "Australia" "" "0" "" "" "" "Pat3" "00249823" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "Pat4" "00249824" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "Pat5" "00249825" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "Pat6" "00249826" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:29781137}" "2-generation family, 1 affected" "F" "" "Australia" "" "0" "" "" "" "Pat19" "00249827" "" "" "" "1" "" "00006" "{PMID:Collins 2019:30019982}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "Pat1" "00249828" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "unaffected parent local WES database" "" "" "United States" "" "0" "" "" "" "control" "00249829" "" "" "" "2" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00249830" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00249831" "" "" "" "2" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00249832" "" "" "" "2" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00249833" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00249834" "" "" "" "1" "" "00006" "{PMID:Wangler 2014:24676022}" "from local WES database" "" "" "United States" "" "0" "" "" "" "" "00292833" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295917" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00404572" "" "" "" "1" "" "01164" "" "prenatal trio-exom after ultra-sound abnormalities" "F" "no" "" "" "0" "" "" "" "194653" "00440402" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3501.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 81 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00249760" "01430" "00249761" "01430" "00249762" "01430" "00249763" "01430" "00249764" "01430" "00249765" "01430" "00249766" "01430" "00249767" "01430" "00249768" "01430" "00249769" "01430" "00249770" "01430" "00249771" "01430" "00249772" "01430" "00249773" "01430" "00249774" "01430" "00249775" "01430" "00249776" "01430" "00249777" "01430" "00249778" "01430" "00249779" "01430" "00249780" "01430" "00249781" "01430" "00249782" "01430" "00249783" "01430" "00249784" "01430" "00249785" "01430" "00249786" "01430" "00249787" "01430" "00249788" "01430" "00249789" "01430" "00249790" "01430" "00249791" "01430" "00249792" "01430" "00249793" "01430" "00249794" "01430" "00249795" "01430" "00249796" "01430" "00249797" "01430" "00249798" "01430" "00249799" "01430" "00249800" "01430" "00249801" "01430" "00249802" "01430" "00249803" "01430" "00249804" "01430" "00249805" "01430" "00249806" "01430" "00249807" "01430" "00249808" "01430" "00249809" "01430" "00249810" "01430" "00249811" "01430" "00249812" "01430" "00249813" "01430" "00249814" "01430" "00249815" "01430" "00249816" "01430" "00249817" "01430" "00249818" "01430" "00249819" "01430" "00249820" "01430" "00249821" "01430" "00249822" "01430" "00249823" "01430" "00249824" "01430" "00249825" "01430" "00249826" "01430" "00249827" "01430" "00249828" "00000" "00249829" "00000" "00249830" "00000" "00249831" "00000" "00249832" "00000" "00249833" "00000" "00249834" "00000" "00292833" "00198" "00295917" "00198" "00404572" "06550" "00440402" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 01430, 06550 ## Count = 74 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000188629" "01430" "00249760" "00006" "Familial, autosomal dominant" "" "no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188630" "01430" "00249761" "00006" "Isolated (sporadic)" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188631" "01430" "00249762" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188632" "01430" "00249763" "00006" "Unknown" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction due to biopsy-proven visceral myopathy" "" "0000188633" "01430" "00249764" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188634" "01430" "00249765" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "VSCM" "" "" "0000188635" "01430" "00249766" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "hollow visceral myopathy" "" "0000188636" "01430" "00249767" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188637" "01430" "00249768" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188638" "01430" "00249769" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188639" "01430" "00249770" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188640" "01430" "00249771" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188641" "01430" "00249772" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188642" "01430" "00249773" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188643" "01430" "00249774" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188644" "01430" "00249775" "00006" "Familial, autosomal dominant" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "pseudo-obstruction" "" "0000188645" "01430" "00249776" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "pseudo-obstruction" "" "0000188646" "01430" "00249777" "00006" "Familial, autosomal dominant" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "pseudo-obstruction (5/6), MMIHS (1/6)" "" "0000188647" "01430" "00249778" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "VSCM" "" "" "0000188648" "01430" "00249779" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "fetal megacystis" "" "0000188649" "01430" "00249780" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "fetal megacystis" "" "0000188650" "01430" "00249781" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "fetal megacystis" "" "0000188651" "01430" "00249782" "00006" "Familial, autosomal dominant" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "visceral myopathy" "" "0000188652" "01430" "00249783" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188653" "01430" "00249784" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188654" "01430" "00249785" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "distended bladder, microcolon, intestinal hypoperistalsis" "" "0000188655" "01430" "00249786" "00006" "Unknown" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction, megacystis" "" "0000188656" "01430" "00249787" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction, megacystis" "" "0000188657" "01430" "00249788" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction, megacystis" "" "0000188658" "01430" "00249789" "00006" "Unknown" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction, megacystis" "" "0000188659" "01430" "00249790" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction, megacystis" "" "0000188660" "01430" "00249791" "00006" "Unknown" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188661" "01430" "00249792" "00006" "Unknown" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188662" "01430" "00249793" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188663" "01430" "00249794" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188664" "01430" "00249795" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188665" "01430" "00249796" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188666" "01430" "00249797" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188667" "01430" "00249798" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188668" "01430" "00249799" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188669" "01430" "00249800" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188670" "01430" "00249801" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188671" "01430" "00249802" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188672" "01430" "00249803" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188673" "01430" "00249804" "00006" "Unknown" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188674" "01430" "00249805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "VSCM" "smooth muscle dysfunction syndrome" "" "0000188675" "01430" "00249806" "00006" "Unknown" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188676" "01430" "00249807" "00006" "Unknown" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "" "" "0000188677" "01430" "00249808" "00006" "Unknown" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "" "" "0000188678" "01430" "00249809" "00006" "Unknown" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "" "" "0000188679" "01430" "00249810" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo‐obstruction" "" "0000188680" "01430" "00249811" "00006" "Familial, autosomal dominant" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188681" "01430" "00249812" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188682" "01430" "00249813" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188683" "01430" "00249814" "00006" "Familial, autosomal dominant" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188684" "01430" "00249815" "00006" "Unknown" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188685" "01430" "00249816" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188686" "01430" "00249817" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188687" "01430" "00249818" "00006" "Unknown" "" "gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188688" "01430" "00249819" "00006" "Unknown" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188689" "01430" "00249820" "00006" "Familial, autosomal dominant" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188690" "01430" "00249821" "00006" "Unknown" "" "no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "congenital megacolon, megacystis" "" "0000188691" "01430" "00249822" "00006" "Isolated (sporadic)" "" "no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "congenital megacolon, megacystis" "" "0000188692" "01430" "00249823" "00006" "Isolated (sporadic)" "" "gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188693" "01430" "00249824" "00006" "Unknown" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188694" "01430" "00249825" "00006" "Isolated (sporadic)" "" "megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "chronic intestinal pseudo-obstruction" "" "0000188695" "01430" "00249826" "00006" "Isolated (sporadic)" "" "microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "megacystis microcolon intestinal hypoperistalsis syndrome" "" "0000188696" "01430" "00249827" "00006" "Unknown" "" "no microcolon (-HP:0004388); gastrointestinal problems (HP:0011024)" "" "" "" "" "" "" "" "" "VSCM" "pediatric onset chronic intestinal pseudoobstruction" "" "0000188697" "00000" "00249828" "00006" "-" "" "mild intermittent constipation, not requiring medications, no history of abdominal surgery, no bladder dysfunction" "" "" "" "" "" "" "" "" "" "" "" "0000223393" "00198" "00295917" "01164" "Unknown" "" "Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000297157" "06550" "00404572" "01164" "Isolated (sporadic)" "" "Megacystis, Fetal megacystis, Hydronephrosis" "" "" "" "" "" "" "" "" "" "prenatal ultra-sound" "" "0000330312" "00198" "00440402" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Visceral myopathy (MIM #155310)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 81 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000250867" "00249760" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250868" "00249761" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250869" "00249762" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250870" "00249763" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250871" "00249764" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250872" "00249765" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250873" "00249766" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250874" "00249767" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250875" "00249768" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250876" "00249769" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250877" "00249770" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250878" "00249771" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250879" "00249772" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250880" "00249773" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250881" "00249774" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250882" "00249775" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250883" "00249776" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250884" "00249777" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250885" "00249778" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250886" "00249779" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250887" "00249780" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250888" "00249781" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250889" "00249782" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250890" "00249783" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250891" "00249784" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250892" "00249785" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250893" "00249786" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250894" "00249787" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250895" "00249788" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250896" "00249789" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250897" "00249790" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250898" "00249791" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250899" "00249792" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250900" "00249793" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250901" "00249794" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250902" "00249795" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250903" "00249796" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250904" "00249797" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250905" "00249798" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250906" "00249799" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250907" "00249800" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250908" "00249801" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250909" "00249802" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250910" "00249803" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250911" "00249804" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250912" "00249805" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250913" "00249806" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250914" "00249807" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250915" "00249808" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250916" "00249809" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250917" "00249810" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250918" "00249811" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250919" "00249812" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250920" "00249813" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250921" "00249814" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250922" "00249815" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250923" "00249816" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250924" "00249817" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250925" "00249818" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250926" "00249819" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250927" "00249820" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250928" "00249821" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250929" "00249822" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250930" "00249823" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250931" "00249824" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250932" "00249825" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250933" "00249826" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250934" "00249827" "1" "00006" "00006" "2019-08-02 15:26:59" "" "" "SEQ" "DNA" "" "" "0000250935" "00249828" "1" "00006" "00006" "2019-08-02 15:45:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000250936" "00249829" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250937" "00249830" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250938" "00249831" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250939" "00249832" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250940" "00249833" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250941" "00249834" "1" "00006" "00006" "2019-08-02 15:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294001" "00292833" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297089" "00295917" "1" "01164" "01164" "2020-03-30 10:44:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000405812" "00404572" "1" "01164" "01164" "2022-03-04 12:07:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000441887" "00440402" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 76 "{{screeningid}}" "{{geneid}}" "0000250867" "ACTG2" "0000250868" "ACTG2" "0000250869" "ACTG2" "0000250870" "ACTG2" "0000250871" "ACTG2" "0000250872" "ACTG2" "0000250873" "ACTG2" "0000250874" "ACTG2" "0000250875" "ACTG2" "0000250876" "ACTG2" "0000250877" "ACTG2" "0000250878" "ACTG2" "0000250879" "ACTG2" "0000250880" "ACTG2" "0000250881" "ACTG2" "0000250882" "ACTG2" "0000250883" "ACTG2" "0000250884" "ACTG2" "0000250885" "ACTG2" "0000250886" "ACTG2" "0000250887" "ACTG2" "0000250888" "ACTG2" "0000250889" "ACTG2" "0000250890" "ACTG2" "0000250891" "ACTG2" "0000250892" "ACTG2" "0000250893" "ACTG2" "0000250894" "ACTG2" "0000250895" "ACTG2" "0000250896" "ACTG2" "0000250897" "ACTG2" "0000250898" "ACTG2" "0000250899" "ACTG2" "0000250900" "ACTG2" "0000250901" "ACTG2" "0000250902" "ACTG2" "0000250903" "ACTG2" "0000250904" "ACTG2" "0000250905" "ACTG2" "0000250906" "ACTG2" "0000250907" "ACTG2" "0000250908" "ACTG2" "0000250909" "ACTG2" "0000250910" "ACTG2" "0000250911" "ACTG2" "0000250912" "ACTG2" "0000250913" "ACTG2" "0000250914" "ACTG2" "0000250915" "ACTG2" "0000250916" "ACTG2" "0000250917" "ACTG2" "0000250918" "ACTG2" "0000250919" "ACTG2" "0000250920" "ACTG2" "0000250921" "ACTG2" "0000250922" "ACTG2" "0000250923" "ACTG2" "0000250924" "ACTG2" "0000250925" "ACTG2" "0000250926" "ACTG2" "0000250927" "ACTG2" "0000250928" "ACTG2" "0000250929" "ACTG2" "0000250930" "ACTG2" "0000250931" "ACTG2" "0000250932" "ACTG2" "0000250933" "ACTG2" "0000250934" "ACTG2" "0000250935" "ACTG2" "0000250936" "ACTG2" "0000250937" "ACTG2" "0000250938" "ACTG2" "0000250939" "ACTG2" "0000250940" "ACTG2" "0000250941" "ACTG2" "0000405812" "ACTG2" ## 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 = 106 "{{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}}" "0000002291" "3" "50" "2" "74142164" "74142164" "del" "0" "00037" "ACTG2_000001" "g.74142164del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.73915037del" "" "VUS" "" "0000010337" "3" "50" "2" "74142164" "74142164" "del" "0" "00037" "ACTG2_000001" "g.74142164del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.73915037del" "" "VUS" "" "0000250490" "0" "70" "2" "74140737" "74140737" "subst" "0" "02329" "ACTG2_000002" "g.74140737A>T" "" "" "" "ACTG2(NM_001615.4):c.577A>T (p.I193F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73913610A>T" "" "likely pathogenic" "" "0000338687" "0" "10" "2" "74128391" "74128391" "subst" "0.763236" "02327" "ACTG2_000003" "g.74128391G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73901264G>C" "" "benign" "" "0000338688" "0" "10" "2" "74128433" "74128433" "subst" "0.774965" "02327" "ACTG2_000004" "g.74128433C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73901306C>T" "" "benign" "" "0000338689" "0" "10" "2" "74129474" "74129474" "subst" "0.599552" "02327" "ACTG2_000005" "g.74129474T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73902347T>C" "" "benign" "" "0000338690" "0" "10" "2" "74135797" "74135797" "subst" "0.650697" "02327" "ACTG2_000006" "g.74135797T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73908670T>C" "" "benign" "" "0000338691" "0" "10" "2" "74140789" "74140789" "subst" "0.65842" "02327" "ACTG2_000008" "g.74140789T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73913662T>C" "" "benign" "" "0000340422" "0" "10" "2" "74146869" "74146869" "subst" "0" "02327" "ACTG2_000013" "g.74146869G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73919742G>A" "" "benign" "" "0000340757" "0" "10" "2" "74135898" "74135898" "subst" "0.652111" "02327" "ACTG2_000007" "g.74135898A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73908771A>G" "" "benign" "" "0000516917" "0" "90" "2" "74128554" "74128554" "subst" "0" "02327" "ACTG2_000009" "g.74128554C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73901427C>G" "" "pathogenic" "" "0000516918" "0" "90" "2" "74140692" "74140692" "subst" "0" "01943" "ACTG2_000010" "g.74140692C>T" "" "" "" "ACTG2(NM_001615.3):c.532C>T (p.R178C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73913565C>T" "" "pathogenic" "" "0000516919" "0" "30" "2" "74140766" "74140766" "subst" "0" "01943" "ACTG2_000011" "g.74140766G>A" "" "" "" "ACTG2(NM_001615.3):c.606G>A (p.V202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73913639G>A" "" "likely benign" "" "0000516920" "0" "90" "2" "74141962" "74141962" "subst" "0" "01943" "ACTG2_000012" "g.74141962C>T" "" "" "" "ACTG2(NM_001615.3):c.769C>T (p.R257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73914835C>T" "" "pathogenic" "" "0000580266" "0" "90" "2" "74136257" "74136257" "subst" "0" "00006" "ACTG2_000033" "g.74136257C>A" "" "{PMID:Lehtonen 2012:22960657}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73909130C>A" "" "pathogenic (dominant)" "" "0000580267" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000035" "g.74140693G>T" "" "{PMID:Thorson 2014:24337657}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>T" "" "pathogenic (dominant)" "" "0000580268" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Thorson 2014:24337657}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580269" "0" "90" "2" "74136257" "74136257" "subst" "0" "00006" "ACTG2_000033" "g.74136257C>A" "" "{PMID:Holla 2014:24777424}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73909130C>A" "" "pathogenic (dominant)" "" "0000580270" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580271" "21" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Wangler 2014:24676022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73913566G>A" "" "pathogenic (dominant)" "" "0000580272" "0" "90" "2" "74128557" "74128557" "subst" "0" "00006" "ACTG2_000028" "g.74128557G>A" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73901430G>A" "" "pathogenic (dominant)" "" "0000580273" "0" "90" "2" "74129494" "74129494" "subst" "0" "00006" "ACTG2_000029" "g.74129494T>C" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73902367T>C" "" "pathogenic (dominant)" "" "0000580274" "0" "90" "2" "74136215" "74136215" "subst" "0" "00006" "ACTG2_000031" "g.74136215T>A" "" "{PMID:Wangler 2014:24676022}" "" "412T>A (Y134N)" "" "De novo" "" "" "0" "" "" "g.73909088T>A" "" "pathogenic (dominant)" "" "0000580275" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580276" "0" "90" "2" "74128556" "74128556" "subst" "0" "00006" "ACTG2_000027" "g.74128556C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73901429C>T" "" "pathogenic (dominant)" "" "0000580277" "0" "90" "2" "74140753" "74140753" "subst" "0" "00006" "ACTG2_000038" "g.74140753G>A" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73913626G>A" "" "pathogenic (dominant)" "" "0000580278" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580279" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580280" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Wangler 2014:24676022}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>A" "" "pathogenic (dominant)" "" "0000580281" "21" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Wangler 2014:24676022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580282" "1" "90" "2" "74129825" "74129825" "subst" "0" "00006" "ACTG2_000018" "g.74129825C>A" "" "{PMID:Wangler 2014:24676022}" "" "Uc010fex 330C>A (F110L)" "" "Germline" "" "" "0" "" "" "g.73902698C>A" "" "pathogenic (dominant)" "" "0000580283" "11" "90" "2" "74128557" "74128557" "subst" "0" "00006" "ACTG2_000028" "g.74128557G>A" "" "{PMID:Wangler 2014:24676022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73901430G>A" "" "pathogenic (dominant)" "" "0000580284" "0" "90" "2" "74129547" "74129547" "subst" "0" "00006" "ACTG2_000017" "g.74129547C>G" "" "{PMID:Wangler 2014:24676022}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73902420C>G" "" "pathogenic (dominant)" "" "0000580285" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Tuzovic 2015:25998219}" "" "" "" "De novo" "" "" "0" "" "" "g.73914836G>A" "" "pathogenic (dominant)" "" "0000580286" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Tuzovic 2015:25998219}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>A" "" "pathogenic (dominant)" "" "0000580287" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Tuzovic 2015:25998219}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580288" "1" "90" "2" "74143711" "74143712" "delins" "0" "00006" "ACTG2_000040" "g.74143711_74143712delinsAA" "" "{PMID:Klar 2015:25782675}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73916584_73916585delinsAA" "" "pathogenic (dominant)" "" "0000580289" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Matera 2016:26813947}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>A" "{CV:000256210}" "pathogenic (dominant)" "" "0000580290" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000035" "g.74140693G>T" "" "{PMID:Matera 2016:26813947}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913566G>T" "{CV:000256211}" "pathogenic (dominant)" "" "0000580291" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Matera 2016:26813947}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>T" "{CV:000256212}" "pathogenic (dominant)" "" "0000580292" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Matera 2016:26813947}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914836G>A" "{CV:000256213}" "pathogenic (dominant)" "" "0000580293" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Matera 2016:26813947}" "" "" "" "De novo" "" "" "0" "" "" "g.73914836G>A" "{CV:000256213}" "pathogenic (dominant)" "" "0000580294" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Matera 2016:26813947}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "{CV:000256214}" "pathogenic (dominant)" "" "0000580295" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Matera 2016:26813947}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914835C>T" "{CV:000256214}" "pathogenic (dominant)" "" "0000580296" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Matera 2016:26813947}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "{CV:000256214}" "pathogenic (dominant)" "" "0000580297" "0" "90" "2" "74128551" "74128551" "subst" "0" "00006" "ACTG2_000026" "g.74128551G>A" "" "{PMID:Matera 2016:26813947}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73901424G>A" "{CV:000256215}" "pathogenic (dominant)" "" "0000580298" "0" "90" "2" "74136257" "74136257" "subst" "0" "00006" "ACTG2_000033" "g.74136257C>A" "" "{PMID:Matera 2016:26813947}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73909130C>A" "{CV:000256216}" "pathogenic (dominant)" "" "0000580299" "0" "90" "2" "74129548" "74129548" "subst" "0" "00006" "ACTG2_000030" "g.74129548G>A" "" "{PMID:Halim 2016:26647307}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73902421G>A" "" "pathogenic (dominant)" "" "0000580300" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Halim 2016:26647307}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>A" "" "pathogenic (dominant)" "" "0000580301" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Halim 2016:26647307}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580302" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000036" "g.74140693G>A" "" "{PMID:Halim 2016:26647307}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913566G>A" "" "pathogenic (dominant)" "" "0000580303" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000035" "g.74140693G>T" "" "{PMID:Halim 2016:26647307}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>T" "" "pathogenic (dominant)" "" "0000580304" "0" "90" "2" "74128556" "74128556" "subst" "0" "00006" "ACTG2_000027" "g.74128556C>T" "" "{PMID:Halim 2016:26647307}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73901429C>T" "" "pathogenic (dominant)" "" "0000580305" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Halim 2016:26647307}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580306" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Halim 2016:26647307}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580307" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Moreno 2016:27481187}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580308" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Moreno 2016:27481187}" "" "" "" "De novo" "" "" "0" "" "" "g.73914836G>A" "" "pathogenic (dominant)" "" "0000580309" "0" "90" "2" "74140693" "74140693" "subst" "0" "00006" "ACTG2_000035" "g.74140693G>T" "" "{PMID:Moreno 2016:27481187}" "" "" "" "De novo" "" "" "0" "" "" "g.73913566G>T" "" "pathogenic (dominant)" "" "0000580310" "0" "90" "2" "74140744" "74140744" "subst" "0" "00006" "ACTG2_000037" "g.74140744C>T" "" "{PMID:Moreno 2016:27481187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913617C>T" "" "pathogenic (dominant)" "" "0000580311" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000010" "g.74140692C>T" "" "{PMID:Moreno 2016:27481187}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73913565C>T" "" "pathogenic (dominant)" "" "0000580312" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Lu 2016:27007401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914836G>A" "" "pathogenic (dominant)" "" "0000580313" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Lu 2016:27007401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914836G>A" "" "pathogenic (dominant)" "" "0000580314" "0" "90" "2" "74141963" "74141963" "subst" "0" "00006" "ACTG2_000039" "g.74141963G>A" "" "{PMID:Lu 2016:27007401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914836G>A" "" "pathogenic (dominant)" "" "0000580315" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Lu 2016:27007401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580316" "11" "90" "2" "74129547" "74129547" "subst" "0" "00006" "ACTG2_000017" "g.74129547C>G" "" "{PMID:Milunsky 2017:29072330}" "" "" "mosaicism father" "Germline/De novo (untested)" "" "rs864309491" "0" "" "" "g.73902420C>G" "" "pathogenic (dominant)" "" "0000580317" "1" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Milunsky 2017:28422808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580318" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Milunsky 2017:28422808}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580319" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Milunsky 2017:28422808}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580320" "1" "90" "2" "74128557" "74128557" "subst" "0" "00006" "ACTG2_000028" "g.74128557G>A" "" "{PMID:Milunsky 2017:28422808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73901430G>A" "" "pathogenic (dominant)" "" "0000580321" "0" "90" "2" "74141825" "74141825" "subst" "0" "00006" "ACTG2_000015" "g.74141825G>A" "" "{PMID:Whittington 2017:29387497}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914698G>A" "" "pathogenic (dominant)" "" "0000580322" "1" "90" "2" "74141825" "74141825" "subst" "0" "00006" "ACTG2_000015" "g.74141825G>A" "" "{PMID:Whittington 2017:29387497}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73914698G>A" "" "pathogenic (dominant)" "" "0000580323" "0" "90" "2" "74140692" "74140692" "subst" "0" "00006" "ACTG2_000016" "g.74140692C>A" "" "{PMID:Korgali 2018:29608093}" "" "" "" "De novo" "" "" "0" "" "" "g.73913565C>A" "" "pathogenic (dominant)" "" "0000580324" "0" "90" "2" "74143710" "74146780" "del" "0" "00006" "ACTG2_000014" "g.(74141999_74143710)_(74146780_?)del" "" "{PMID:Lee 2019:30334933}" "" "del ex8-9" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(73914872_73916583)_(73919653_?)del" "" "pathogenic (dominant)" "" "0000580325" "0" "90" "2" "74128554" "74128554" "subst" "0" "00006" "ACTG2_000009" "g.74128554C>G" "" "{PMID:Lee 2019:30334933}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73901427C>G" "" "pathogenic (dominant)" "" "0000580326" "1" "90" "2" "74136258" "74136258" "subst" "0" "00006" "ACTG2_000034" "g.74136258G>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "Germline" "yes" "" "0" "" "" "g.73909131G>T" "" "pathogenic (dominant)" "" "0000580327" "0" "90" "2" "74128557" "74128557" "subst" "0" "00006" "ACTG2_000028" "g.74128557G>A" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73901430G>A" "" "pathogenic (dominant)" "" "0000580328" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580329" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580330" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580331" "0" "90" "2" "74141962" "74141962" "subst" "0" "00006" "ACTG2_000012" "g.74141962C>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "De novo" "" "" "0" "" "" "g.73914835C>T" "" "pathogenic (dominant)" "" "0000580332" "0" "90" "2" "74128556" "74128556" "subst" "0" "00006" "ACTG2_000027" "g.74128556C>T" "" "{PMID:Ravenscroft 2018:29781137}" "" "" "" "De novo" "" "" "0" "" "" "g.73901429C>T" "" "pathogenic (dominant)" "" "0000580333" "0" "90" "2" "74136254" "74136254" "subst" "0" "00006" "ACTG2_000032" "g.74136254G>T" "" "{PMID:Collins 2019:30019982}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73909127G>T" "" "pathogenic (dominant)" "" "0000580334" "0" "50" "2" "74129547" "74129547" "subst" "0" "00006" "ACTG2_000019" "g.74129547C>T" "" "{PMID:Wangler 2014:24676022}" "" "C187T" "not associated with a phenotype" "Germline/De novo (untested)" "" "" "0" "" "" "g.73902420C>T" "" "VUS" "" "0000580335" "1" "90" "2" "74141982" "74141982" "subst" "0" "00006" "ACTG2_000020" "g.74141982C>G" "" "{PMID:Lehtonen 2012:22960657}" "" "c789G" "" "Germline" "" "" "0" "" "" "g.73914855C>G" "" "likely benign" "" "0000580336" "0" "90" "2" "74128562" "74128562" "dup" "0" "00006" "ACTG2_000021" "g.74128562dup" "" "{PMID:Wangler 2014:24676022}" "" "122_123insC" "not associated with disease" "Germline" "" "" "0" "" "" "g.73901435dup" "" "VUS" "" "0000580337" "1" "90" "2" "74129805" "74129805" "subst" "0" "00006" "ACTG2_000022" "g.74129805A>G" "" "{PMID:Wangler 2014:24676022}" "" "Uc010fex.1 A310G (N104D)" "" "Germline" "" "" "0" "" "" "g.73902678A>G" "" "likely benign" "" "0000580338" "1" "90" "2" "74146680" "74146680" "subst" "0" "00006" "ACTG2_000023" "g.74146680T>C" "" "{PMID:Wangler 2014:24676022}" "" "T1109C" "" "Germline" "" "" "0" "" "" "g.73919553T>C" "" "likely benign" "" "0000580339" "0" "90" "2" "74146568" "74146568" "subst" "0" "00006" "ACTG2_000024" "g.74146568C>A" "" "{PMID:Wangler 2014:24676022}" "" "C997A" "" "Germline" "" "" "0" "" "" "g.73919441C>A" "" "likely benign" "" "0000580340" "0" "90" "2" "74136213" "74136213" "subst" "3.65458E-5" "00006" "ACTG2_000025" "g.74136213T>C" "" "{PMID:Wangler 2014:24676022}" "" "T398C" "" "Germline" "" "" "0" "" "" "g.73909086T>C" "" "likely benign" "" "0000608127" "0" "10" "2" "74120181" "74120181" "subst" "0" "02327" "ACTG2_000041" "g.74120181A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73893054A>G" "" "benign" "" "0000650690" "1" "90" "2" "74128557" "74128557" "subst" "0" "03575" "ACTG2_000028" "g.74128557G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587777386}" "Germline" "" "rs587777386" "0" "" "" "g.73901430G>A" "" "pathogenic" "" "0000659702" "0" "90" "2" "74141962" "74141962" "subst" "0" "01164" "ACTG2_000012" "g.74141962C>T" "" "" "" "" "ACMG grading: PS2,PS4,PM2,PP1,PP3; viszerale Myopathy; Wangler et al. 2014. PLoS genetics 3: 1004258; Yang et al. 2013. NEJM 16: 1502; Tuzovic et al. 2015. Fetal diagnosis and therapy 4: 296" "Germline" "" "rs587777387" "0" "" "" "g.73914835C>T" "" "pathogenic" "ACMG" "0000688852" "0" "90" "2" "74128557" "74128557" "subst" "0" "02327" "ACTG2_000028" "g.74128557G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000841942" "0" "70" "2" "74129548" "74129548" "subst" "0" "01164" "ACTG2_000042" "g.74129548G>T" "" "" "" "" "ACMG: PS2, PM5, PM2_SUP, PP2, PP3; confirmed de novo; p.(Arg63Gln) and p.(Arg63Gly) are known path variants" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000850025" "0" "90" "2" "74141962" "74141962" "subst" "0" "02327" "ACTG2_000012" "g.74141962C>T" "" "" "" "ACTG2(NM_001615.3):c.769C>T (p.R257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850026" "0" "50" "2" "74143863" "74143863" "subst" "0" "01943" "ACTG2_000043" "g.74143863G>A" "" "" "" "ACTG2(NM_001615.3):c.958G>A (p.A320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858701" "0" "90" "2" "74140693" "74140693" "subst" "0" "02327" "ACTG2_000036" "g.74140693G>A" "" "" "" "ACTG2(NM_001615.4):c.533G>A (p.(Arg178His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885394" "0" "30" "2" "74143874" "74143874" "subst" "0.00143172" "02326" "ACTG2_000044" "g.74143874C>T" "" "" "" "ACTG2(NM_001615.4):c.969C>T (p.P323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939829" "0" "70" "2" "74135881" "74135881" "subst" "0" "00006" "ACTG2_000045" "g.74135881C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.73908754C>G" "" "likely pathogenic (dominant)" "" "0000975421" "0" "50" "2" "74136213" "74136213" "subst" "3.65458E-5" "01804" "ACTG2_000025" "g.74136213T>C" "" "" "" "ACTG2(NM_001615.4):c.398T>C (p.(Met133Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993009" "0" "50" "2" "74128448" "74128448" "subst" "2.89498E-5" "01804" "ACTG2_000046" "g.74128448G>C" "" "" "" "ACTG2(NM_001615.3):c.10G>C (p.(Glu4Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993010" "0" "50" "2" "74143897" "74143897" "subst" "0" "01804" "ACTG2_000047" "g.74143897G>C" "" "" "" "ACTG2(NM_001615.3):c.987+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993011" "0" "50" "2" "74146680" "74146680" "subst" "0" "01804" "ACTG2_000023" "g.74146680T>C" "" "" "" "ACTG2(NM_001615.3):c.1109T>C (p.(Ile370Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013784" "0" "50" "2" "74143770" "74143770" "subst" "0" "02327" "ACTG2_000048" "g.74143770G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024678" "0" "30" "2" "74129825" "74129825" "subst" "0" "02326" "ACTG2_000018" "g.74129825C>A" "" "" "" "ACTG2(NM_001615.4):c.255+210C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033478" "0" "90" "2" "74140693" "74140693" "subst" "0" "01804" "ACTG2_000036" "g.74140693G>A" "" "" "" "ACTG2(NM_001615.4):c.533G>A (p.(Arg178His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ACTG2 ## Count = 106 "{{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}}" "0000002291" "00000711" "50" "805" "166" "805" "166" "c.805+166del" "r.(=)" "p.(=)" "" "0000010337" "00000711" "50" "805" "166" "805" "166" "c.805+166del" "r.(=)" "p.(=)" "" "0000250490" "00000711" "70" "577" "0" "577" "0" "c.577A>T" "r.(?)" "p.(Ile193Phe)" "" "0000338687" "00000711" "10" "-36" "-12" "-36" "-12" "c.-36-12G>C" "r.(=)" "p.(=)" "" "0000338688" "00000711" "10" "-6" "0" "-6" "0" "c.-6C>T" "r.(?)" "p.(=)" "" "0000338689" "00000711" "10" "127" "-13" "127" "-13" "c.127-13T>C" "r.(=)" "p.(=)" "" "0000338690" "00000711" "10" "256" "-3" "256" "-3" "c.256-3T>C" "r.spl?" "p.?" "" "0000338691" "00000711" "10" "613" "16" "613" "16" "c.613+16T>C" "r.(=)" "p.(=)" "" "0000340422" "00000711" "10" "1298" "0" "1298" "0" "c.*167G>A" "r.(=)" "p.(=)" "" "0000340757" "00000711" "10" "354" "0" "354" "0" "c.354A>G" "r.(?)" "p.(Glu118=)" "" "0000516917" "00000711" "90" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Pro39Arg)" "" "0000516918" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000516919" "00000711" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Val202=)" "" "0000516920" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580266" "00000711" "90" "442" "0" "442" "0" "c.442C>A" "r.(?)" "p.(Arg148Ser)" "" "0000580267" "00000711" "90" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Arg178Leu)" "" "0000580268" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580269" "00000711" "90" "442" "0" "442" "0" "c.442C>A" "r.(?)" "p.(Arg148Ser)" "" "0000580270" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580271" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580272" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000580273" "00000711" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Met45Thr)" "" "0000580274" "00000711" "90" "400" "0" "400" "0" "c.400T>A" "r.(?)" "p.(Tyr134Asn)" "" "0000580275" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580276" "00000711" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Cys)" "" "0000580277" "00000711" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Gly198Asp)" "" "0000580278" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580279" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580280" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580281" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580282" "00000711" "90" "255" "210" "255" "210" "c.255+210C>A" "r.(=)" "p.(=)" "" "0000580283" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000580284" "00000711" "90" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Arg63Gly)" "" "0000580285" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580286" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580287" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580288" "00000711" "90" "806" "0" "807" "0" "c.806_807delinsAA" "r.(?)" "p.(Gly269Glu)" "" "0000580289" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580290" "00000711" "90" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Arg178Leu)" "" "0000580291" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580292" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580293" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580294" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580295" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580296" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580297" "00000711" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38His)" "" "0000580298" "00000711" "90" "442" "0" "442" "0" "c.442C>A" "r.(?)" "p.(Arg148Ser)" "" "0000580299" "00000711" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63Gln)" "" "0000580300" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580301" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580302" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000580303" "00000711" "90" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Arg178Leu)" "" "0000580304" "00000711" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Cys)" "" "0000580305" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580306" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580307" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580308" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580309" "00000711" "90" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Arg178Leu)" "" "0000580310" "00000711" "90" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Thr195Ile)" "" "0000580311" "00000711" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178Cys)" "" "0000580312" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580313" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580314" "00000711" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0000580315" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580316" "00000711" "90" "187" "0" "187" "0" "c.187C>G" "r.(?)" "p.(Arg63Gly)" "" "0000580317" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580318" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580319" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580320" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000580321" "00000711" "90" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211Gln)" "" "0000580322" "00000711" "90" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211Gln)" "" "0000580323" "00000711" "90" "532" "0" "532" "0" "c.532C>A" "r.(?)" "p.(Arg178Ser)" "" "0000580324" "00000711" "90" "0" "0" "0" "0" "c.805+1_806-1)_(*78_?)del" "r.?" "p.?" "" "0000580325" "00000711" "90" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Pro39Arg)" "" "0000580326" "00000711" "90" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Arg148Leu)" "" "0000580327" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000580328" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580329" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580330" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580331" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000580332" "00000711" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Cys)" "" "0000580333" "00000711" "90" "439" "0" "439" "0" "c.439G>T" "r.(?)" "p.(Gly147Cys)" "" "0000580334" "00000711" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63*)" "" "0000580335" "00000711" "30" "789" "0" "789" "0" "c.789C>G" "r.(?)" "p.(Phe263Leu)" "" "0000580336" "00000711" "50" "124" "0" "124" "0" "c.124dup" "r.(?)" "p.(Gln42Profs*17)" "" "0000580337" "00000711" "30" "255" "190" "255" "190" "c.255+190A>G" "r.(?)" "p.(=)" "" "0000580338" "00000711" "30" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Ile370Thr)" "" "0000580339" "00000711" "30" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Pro333Thr)" "" "0000580340" "00000711" "30" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Met133Thr)" "" "0000608127" "00000711" "10" "-37" "3" "-37" "3" "c.-37+3A>G" "r.spl?" "p.?" "" "0000650690" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000659702" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000688852" "00000711" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000841942" "00000711" "70" "188" "0" "188" "0" "c.188G>T" "r.(?)" "p.(Arg63Leu)" "" "0000850025" "00000711" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000850026" "00000711" "50" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Ala320Thr)" "" "0000858701" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" "0000885394" "00000711" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Pro323=)" "" "0000939829" "00000711" "70" "337" "0" "337" "0" "c.337C>G" "r.(?)" "p.(Pro113Ala)" "4" "0000975421" "00000711" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Met133Thr)" "" "0000993009" "00000711" "50" "10" "0" "10" "0" "c.10G>C" "r.(?)" "p.(Glu4Gln)" "" "0000993010" "00000711" "50" "987" "5" "987" "5" "c.987+5G>C" "r.spl?" "p.?" "" "0000993011" "00000711" "50" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Ile370Thr)" "" "0001013784" "00000711" "50" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Asp289Tyr)" "" "0001024678" "00000711" "30" "255" "210" "255" "210" "c.255+210C>A" "r.(=)" "p.(=)" "" "0001033478" "00000711" "90" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002291" "0000000210" "0000010337" "0000250867" "0000580266" "0000250868" "0000580267" "0000250869" "0000580268" "0000250870" "0000580269" "0000250871" "0000580270" "0000250872" "0000580271" "0000250873" "0000580272" "0000250874" "0000580273" "0000250875" "0000580274" "0000250876" "0000580275" "0000250877" "0000580276" "0000250878" "0000580277" "0000250879" "0000580278" "0000250880" "0000580279" "0000250881" "0000580280" "0000250882" "0000580281" "0000250883" "0000580282" "0000250884" "0000580283" "0000250885" "0000580284" "0000250886" "0000580285" "0000250887" "0000580286" "0000250888" "0000580287" "0000250889" "0000580288" "0000250890" "0000580289" "0000250891" "0000580290" "0000250892" "0000580291" "0000250893" "0000580292" "0000250894" "0000580293" "0000250895" "0000580294" "0000250896" "0000580295" "0000250897" "0000580296" "0000250898" "0000580297" "0000250899" "0000580298" "0000250900" "0000580299" "0000250901" "0000580300" "0000250902" "0000580301" "0000250903" "0000580302" "0000250904" "0000580303" "0000250905" "0000580304" "0000250906" "0000580305" "0000250907" "0000580306" "0000250908" "0000580307" "0000250909" "0000580308" "0000250910" "0000580309" "0000250911" "0000580310" "0000250912" "0000580311" "0000250913" "0000580312" "0000250914" "0000580313" "0000250915" "0000580314" "0000250916" "0000580315" "0000250917" "0000580316" "0000250918" "0000580317" "0000250919" "0000580318" "0000250920" "0000580319" "0000250921" "0000580320" "0000250922" "0000580321" "0000250923" "0000580322" "0000250924" "0000580323" "0000250925" "0000580324" "0000250926" "0000580325" "0000250927" "0000580326" "0000250928" "0000580327" "0000250929" "0000580328" "0000250930" "0000580329" "0000250931" "0000580330" "0000250932" "0000580331" "0000250933" "0000580332" "0000250934" "0000580333" "0000250935" "0000580334" "0000250936" "0000580335" "0000250937" "0000580336" "0000250938" "0000580337" "0000250939" "0000580338" "0000250940" "0000580339" "0000250941" "0000580340" "0000294001" "0000650690" "0000297089" "0000659702" "0000405812" "0000841942" "0000441887" "0000939829"