### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MNX1) # 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}}" "MNX1" "motor neuron and pancreas homeobox 1" "7" "q36" "unknown" "NG_013212.1" "UD_132085398012" "" "https://www.LOVD.nl/MNX1" "" "1" "4979" "3110" "142994" "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/MNX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-24 12:43:00" "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}}" "00025452" "MNX1" "transcript variant 1" "001" "NM_005515.3" "" "NP_005506.3" "" "" "" "-303" "1873" "1206" "156803347" "156797547" "00006" "2019-07-24 12:30:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00930" "Currarino" "Currarino syndrome" "AD" "176450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-15 11:07:36" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MNX1" "00139" "MNX1" "00930" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00248471" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00445401" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00448219" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat98" "00462309" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-005" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00248471" "00930" "00445401" "00930" "00448219" "00198" "00462309" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00930 ## Count = 2 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000337429" "00198" "00448219" "00006" "Isolated (sporadic)" "7y" "intellectual disability; microcephaly; strabismus; anal atresia; inguinal hernia; cryptorchidism; dysmorphic facial features" "" "" "" "" "" "" "" "" "rare disorder" "" "0000349808" "00198" "00462309" "00006" "Familial, autosomal recessive" "" "38gw-intrauterine growth restriction, cleft palate, anal imperforation, scrotal agenesis, agenesis lumbar and sacral spine and spinal cord" "" "" "" "" "" "" "" "" "multiple neonatal malformations" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000249575" "00248471" "1" "01741" "01741" "2019-07-24 11:01:34" "" "" "SEQ" "DNA" "" "" "0000446975" "00445401" "1" "01741" "01741" "2024-01-15 10:13:49" "" "" "SEQ" "DNA" "" "" "0000449794" "00448219" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000463941" "00462309" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000249575" "MNX1" "0000446975" "MNX1" ## 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 = 48 "{{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}}" "0000252496" "0" "90" "7" "156798554" "156798554" "subst" "0" "02326" "MNX1_000006" "g.156798554A>G" "" "" "" "MNX1(NM_005515.4):c.866T>C (p.F289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005860A>G" "" "pathogenic" "" "0000286618" "0" "90" "7" "156802855" "156802855" "subst" "0" "02326" "MNX1_000021" "g.156802855C>A" "" "" "" "MNX1(NM_005515.4):c.190G>T (p.E64*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157010161C>A" "" "pathogenic" "" "0000286619" "0" "70" "7" "156799181" "156799181" "subst" "0" "02326" "MNX1_000009" "g.156799181C>T" "" "" "" "MNX1(NM_001165255.1):c.208G>A (p.E70K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006487C>T" "" "likely pathogenic" "" "0000286620" "0" "90" "7" "156798568" "156798568" "subst" "0" "02326" "MNX1_000007" "g.156798568C>T" "" "" "" "MNX1(NM_001165255.1):c.217-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005874C>T" "" "pathogenic" "" "0000286621" "0" "90" "7" "156798552" "156798552" "subst" "0" "02326" "MNX1_000005" "g.156798552G>A" "" "" "" "MNX1(NM_001165255.1):c.232C>T (p.Q78*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005858G>A" "" "pathogenic" "" "0000286622" "0" "90" "7" "156798546" "156798546" "subst" "0" "02326" "MNX1_000004" "g.156798546G>A" "" "" "" "MNX1(NM_001165255.1):c.238C>T (p.R80W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005852G>A" "" "pathogenic" "" "0000286623" "0" "50" "7" "156802746" "156802746" "subst" "0" "02326" "MNX1_000020" "g.156802746C>G" "" "" "" "MNX1(NM_005515.4):c.299G>C (p.G100A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157010052C>G" "" "VUS" "" "0000286624" "0" "10" "7" "156802688" "156802688" "subst" "0" "02326" "MNX1_000019" "g.156802688C>A" "" "" "" "MNX1(NM_005515.4):c.357G>T (p.P119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009994C>A" "" "benign" "" "0000286625" "0" "30" "7" "156798378" "156798378" "subst" "0.000176708" "02326" "MNX1_000002" "g.156798378G>A" "" "" "" "MNX1(NM_001165255.1):c.406C>T (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005684G>A" "" "likely benign" "" "0000286626" "0" "30" "7" "156798313" "156798313" "subst" "4.29553E-6" "02326" "MNX1_000001" "g.156798313G>A" "" "" "" "MNX1(NM_001165255.1):c.471C>T (p.P157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005619G>A" "" "likely benign" "" "0000286627" "0" "10" "7" "156801700" "156801700" "subst" "0.028961" "02326" "MNX1_000014" "g.156801700G>T" "" "" "" "MNX1(NM_001165255.1):c.47C>A (p.A16D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009006G>T" "" "benign" "" "0000286628" "0" "50" "7" "156802336" "156802336" "subst" "0" "02326" "MNX1_000015" "g.156802336G>T" "" "" "" "MNX1(NM_005515.4):c.691+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009642G>T" "" "VUS" "" "0000286629" "0" "70" "7" "156802349" "156802349" "subst" "0" "02326" "MNX1_000016" "g.156802349C>G" "" "" "" "MNX1(NM_005515.4):c.691+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009655C>G" "" "likely pathogenic" "" "0000286630" "0" "70" "7" "156799292" "156799292" "subst" "0" "02326" "MNX1_000012" "g.156799292G>A" "" "" "" "MNX1(NM_005515.4):c.733C>T (p.R245C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006598G>A" "" "likely pathogenic" "" "0000286631" "0" "50" "7" "156799259" "156799259" "subst" "0" "02326" "MNX1_000010" "g.156799259G>C" "" "" "" "MNX1(NM_005515.4):c.766C>G (p.L256V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006565G>C" "" "VUS" "" "0000286632" "0" "90" "7" "156799172" "156799172" "subst" "0" "02326" "MNX1_000008" "g.156799172C>T" "" "" "" "MNX1(NM_005515.4):c.852+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006478C>T" "" "pathogenic" "" "0000286633" "0" "50" "7" "156798540" "156798540" "subst" "0" "02326" "MNX1_000003" "g.156798540T>A" "" "" "" "MNX1(NM_005515.4):c.880A>T (p.M294L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157005846T>A" "" "VUS" "" "0000286634" "0" "70" "7" "156799298" "156799298" "subst" "0" "02326" "MNX1_000013" "g.156799298G>A" "" "" "" "MNX1(NM_001165255.1):c.91C>T (p.R31W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006604G>A" "" "likely pathogenic" "" "0000286635" "0" "70" "7" "156799291" "156799291" "subst" "0" "02326" "MNX1_000011" "g.156799291C>G" "" "" "" "MNX1(NM_001165255.1):c.98G>C (p.R33P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157006597C>G" "" "likely pathogenic" "" "0000331987" "0" "50" "7" "156802667" "156802672" "dup" "0" "01804" "MNX1_000017" "g.156802667_156802672dup" "" "" "" "MNX1(NM_001165255.1):c.-898_-897insCGCCGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009973_157009978dup" "" "VUS" "" "0000331988" "0" "50" "7" "156802664" "156802672" "dup" "0" "01804" "MNX1_000018" "g.156802664_156802672dup" "" "" "" "MNX1(NM_001165255.1):c.-898_-897insCGCCGCCGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157009970_157009978dup" "" "VUS" "" "0000578377" "0" "90" "7" "156802997" "156802997" "del" "0" "01741" "MNX1_000025" "g.156802997del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157010303del" "" "pathogenic" "" "0000611005" "0" "50" "7" "156802661" "156802672" "dup" "0" "01804" "MNX1_000026" "g.156802661_156802672dup" "" "" "" "MNX1(NM_001165255.1):c.-898_-897insCGCCGCCGCCGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157009967_157009978dup" "" "VUS" "" "0000655802" "0" "90" "7" "156803024" "156803025" "delins" "0" "02329" "MNX1_000027" "g.156803024_156803025delinsTT" "" "" "" "MNX1(NM_005515.4):c.20_21delTCinsAA (p.F7*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157010330_157010331delinsTT" "" "pathogenic" "" "0000678059" "0" "30" "7" "156798236" "156798236" "subst" "0" "01804" "MNX1_000028" "g.156798236C>T" "" "" "" "MNX1(NM_001165255.1):c.548G>A (p.(Ser183Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721389" "0" "50" "7" "156798354" "156798354" "subst" "7.56506E-5" "01943" "MNX1_000029" "g.156798354G>A" "" "" "" "MNX1(NM_005515.3):c.1066C>T (p.P356S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721390" "0" "50" "7" "156802956" "156802956" "subst" "2.28714E-5" "02325" "MNX1_000030" "g.156802956A>G" "" "" "" "MNX1(NM_005515.4):c.89T>C (p.L30S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803075" "0" "30" "7" "156798227" "156798227" "subst" "0.000260858" "01804" "MNX1_000031" "g.156798227G>A" "" "" "" "MNX1(NM_005515.3):c.1193C>T (p.(Pro398Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803076" "0" "30" "7" "156801687" "156801687" "subst" "0.00648608" "01804" "MNX1_000032" "g.156801687G>T" "" "" "" "MNX1(NM_001165255.1):c.55+5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887800" "0" "70" "7" "156798543" "156798543" "subst" "0" "02327" "MNX1_000033" "g.156798543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887801" "0" "50" "7" "156802464" "156802472" "del" "0" "01804" "MNX1_000034" "g.156802464_156802472del" "" "" "" "MNX1(NM_005515.3):c.585_593del (p.(His196_Ala198del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887802" "0" "70" "7" "156803042" "156803042" "subst" "0" "02327" "MNX1_000035" "g.156803042C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912723" "0" "30" "7" "156801686" "156801686" "subst" "0.0032193" "01804" "MNX1_000036" "g.156801686C>G" "" "" "" "MNX1(NM_001165255.1):c.55+6G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924693" "0" "90" "7" "156802351" "156802351" "subst" "0" "02327" "MNX1_000037" "g.156802351C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000955423" "0" "90" "7" "156803000" "156803000" "del" "0" "01741" "MNX1_000038" "g.156803000del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.157010306del" "" "pathogenic (dominant)" "" "0000960277" "0" "50" "7" "156802690" "156802690" "subst" "0" "00006" "MNX1_000039" "g.156802690G>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.157009996G>T" "" "VUS" "" "0000996380" "0" "30" "7" "156798342" "156798342" "subst" "8.44602E-6" "01804" "MNX1_000040" "g.156798342C>T" "" "" "" "MNX1(NM_005515.3):c.1078G>A (p.(Glu360Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996381" "0" "70" "7" "156798551" "156798551" "subst" "0" "02326" "MNX1_000041" "g.156798551T>C" "" "" "" "MNX1(NM_001165255.1):c.233A>G (p.Q78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996382" "0" "50" "7" "156802461" "156802461" "subst" "0" "01804" "MNX1_000042" "g.156802461G>A" "" "" "" "MNX1(NM_005515.3):c.584C>T (p.(Ala195Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996383" "0" "50" "7" "156802464" "156802472" "dup" "0" "01804" "MNX1_000043" "g.156802464_156802472dup" "" "" "" "MNX1(NM_005515.3):c.585_593dupGCACCCCGC (p.(Ala198_Asp199insHisProAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996384" "0" "50" "7" "156802541" "156802543" "dup" "0" "01804" "MNX1_000044" "g.156802541_156802543dup" "" "" "" "MNX1(NM_005515.3):c.516_518dupGGC (p.(Ala173dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996385" "0" "30" "7" "156802557" "156802557" "subst" "0" "01804" "MNX1_000045" "g.156802557A>G" "" "" "" "MNX1(NM_005515.3):c.488T>C (p.(Val163Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996386" "0" "50" "7" "156802881" "156802881" "subst" "0" "01804" "MNX1_000046" "g.156802881C>G" "" "" "" "MNX1(NM_005515.3):c.164G>C (p.(Ser55Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996387" "0" "50" "7" "156803036" "156803036" "subst" "9.57919E-6" "01804" "MNX1_000047" "g.156803036T>G" "" "" "" "MNX1(NM_005515.3):c.9A>C (p.(Lys3Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027561" "3" "90" "7" "156803043" "156803043" "subst" "0" "00006" "MNX1_000048" "g.156803043A>G" "" "{PMID:Boissel 2017:29261186}" "" "" "" "Germline" "" "" "0" "" "" "g.157010349A>G" "" "pathogenic (recessive)" "" "0001036286" "0" "50" "7" "156798470" "156798470" "subst" "0" "01804" "MNX1_000049" "g.156798470C>A" "" "" "" "MNX1(NM_005515.4):c.950G>T (p.(Gly317Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036287" "0" "50" "7" "156802561" "156802561" "subst" "0" "01804" "MNX1_000050" "g.156802561G>C" "" "" "" "MNX1(NM_005515.4):c.484C>G (p.(Pro162Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036288" "0" "50" "7" "156802866" "156802866" "subst" "0" "01804" "MNX1_000051" "g.156802866G>A" "" "" "" "MNX1(NM_005515.4):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 MNX1 ## Count = 48 "{{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}}" "0000252496" "00025452" "90" "866" "0" "866" "0" "c.866T>C" "r.(?)" "p.(Phe289Ser)" "" "0000286618" "00025452" "90" "190" "0" "190" "0" "c.190G>T" "r.(?)" "p.(Glu64Ter)" "" "0000286619" "00025452" "70" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000286620" "00025452" "90" "853" "-1" "853" "-1" "c.853-1G>A" "r.spl?" "p.?" "" "0000286621" "00025452" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290Ter)" "" "0000286622" "00025452" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Trp)" "" "0000286623" "00025452" "50" "299" "0" "299" "0" "c.299G>C" "r.(?)" "p.(Gly100Ala)" "" "0000286624" "00025452" "10" "357" "0" "357" "0" "c.357G>T" "r.(?)" "p.(Pro119=)" "" "0000286625" "00025452" "30" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Leu348=)" "" "0000286626" "00025452" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Pro369=)" "" "0000286627" "00025452" "10" "691" "654" "691" "654" "c.691+654C>A" "r.(=)" "p.(=)" "" "0000286628" "00025452" "50" "691" "18" "691" "18" "c.691+18C>A" "r.(=)" "p.(=)" "" "0000286629" "00025452" "70" "691" "5" "691" "5" "c.691+5G>C" "r.spl?" "p.?" "" "0000286630" "00025452" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Cys)" "" "0000286631" "00025452" "50" "766" "0" "766" "0" "c.766C>G" "r.(?)" "p.(Leu256Val)" "" "0000286632" "00025452" "90" "852" "1" "852" "1" "c.852+1G>A" "r.spl?" "p.?" "" "0000286633" "00025452" "50" "880" "0" "880" "0" "c.880A>T" "r.(?)" "p.(Met294Leu)" "" "0000286634" "00025452" "70" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "0000286635" "00025452" "70" "734" "0" "734" "0" "c.734G>C" "r.(?)" "p.(Arg245Pro)" "" "0000331987" "00025452" "50" "396" "0" "401" "0" "c.396_401dup" "r.(?)" "p.(Ala133_Ala134dup)" "" "0000331988" "00025452" "50" "393" "0" "401" "0" "c.393_401dup" "r.(?)" "p.(Ala132_Ala134dup)" "" "0000578377" "00025452" "90" "53" "0" "53" "0" "c.53del" "r.(?)" "p.(Pro18Hisfs*204)" "" "0000611005" "00025452" "50" "390" "0" "401" "0" "c.390_401dup" "r.(?)" "p.(Ala131_Ala134dup)" "" "0000655802" "00025452" "90" "20" "0" "21" "0" "c.20_21delinsAA" "r.(?)" "p.(Phe7Ter)" "" "0000678059" "00025452" "30" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Ser395Asn)" "" "0000721389" "00025452" "50" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Pro356Ser)" "" "0000721390" "00025452" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Leu30Ser)" "" "0000803075" "00025452" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "" "0000803076" "00025452" "30" "691" "667" "691" "667" "c.691+667C>A" "r.(=)" "p.(=)" "" "0000887800" "00025452" "70" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Trp)" "" "0000887801" "00025452" "50" "585" "0" "593" "0" "c.585_593del" "r.(?)" "p.(His196_Ala198del)" "" "0000887802" "00025452" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000912723" "00025452" "30" "691" "668" "691" "668" "c.691+668G>C" "r.(=)" "p.(=)" "" "0000924693" "00025452" "90" "691" "3" "691" "3" "c.691+3G>T" "r.spl?" "p.?" "" "0000955423" "00025452" "90" "46" "0" "46" "0" "c.46del" "r.(?)" "p.(Asp16Thrfs*206)" "" "0000960277" "00025452" "50" "355" "0" "355" "0" "c.355C>A" "r.(?)" "p.(Pro119Thr)" "" "0000996380" "00025452" "30" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Glu360Lys)" "" "0000996381" "00025452" "70" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Gln290Arg)" "" "0000996382" "00025452" "50" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "" "0000996383" "00025452" "50" "585" "0" "593" "0" "c.585_593dup" "r.(?)" "p.(His196_Ala198dup)" "" "0000996384" "00025452" "50" "516" "0" "518" "0" "c.516_518dup" "r.(?)" "p.(Ala174dup)" "" "0000996385" "00025452" "30" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Val163Ala)" "" "0000996386" "00025452" "50" "164" "0" "164" "0" "c.164G>C" "r.(?)" "p.(Ser55Thr)" "" "0000996387" "00025452" "50" "9" "0" "9" "0" "c.9A>C" "r.(?)" "p.(Lys3Asn)" "" "0001027561" "00025452" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0001036286" "00025452" "50" "950" "0" "950" "0" "c.950G>T" "r.(?)" "p.(Gly317Val)" "" "0001036287" "00025452" "50" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Pro162Ala)" "" "0001036288" "00025452" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Pro60Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000249575" "0000578377" "0000446975" "0000955423" "0000449794" "0000960277" "0000463941" "0001027561"