### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMH) # 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}}" "AMH" "anti-Mullerian hormone" "19" "p13.3" "unknown" "NG_012190.1" "UD_132118512475" "" "http://www.LOVD.nl/AMH" "" "1" "464" "268" "600957" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/AMH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-10-14 12:53:49" "00000" "2025-11-01 13:22:20" ## 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}}" "00002429" "AMH" "anti-Mullerian hormone" "001" "NM_000479.3" "" "NP_000470.2" "" "" "" "-219" "1799" "1683" "2249113" "2252072" "" "0000-00-00 00:00:00" "" "" ## 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}}" "02007" "PMDS" "Mullerian duct syndrome. persistent, types I and II (PMDS)" "AR" "261550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AMH" "02007" ## 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}}" "00081436" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00081440" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "han" "" "00204590" "" "" "" "1" "" "02297" "" "" "M" "no" "Hong Kong" "" "0" "" "" "Chinese" "" "00231538" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat270" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00081436" "05155" "00081440" "05155" "00204590" "02007" "00231538" "05597" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02007, 05155, 05597 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061038" "05155" "00081436" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine" "" "" "" "" "" "" "" "" "" "0000061042" "05155" "00081440" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlocalized at the thoracolumbar" "" "" "" "" "" "" "" "" "" "0000152869" "02007" "00204590" "02297" "Unknown" "" "bilateral undescended testes" "00y00m00d" "10y" "" "" "" "" "" "" "" "0000173929" "05597" "00231538" "00006" "Unknown" "" "persistent Müllerian duct syndrome" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" ## 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}}" "0000081577" "00081436" "1" "01783" "01783" "2016-10-14 04:02:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000081587" "00081440" "1" "01783" "01783" "2016-10-14 04:27:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000205619" "00204590" "1" "02297" "02297" "2013-07-17 11:23:57" "00006" "2013-07-21 17:25:01" "SEQ" "DNA" "" "" "0000232637" "00231538" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000081577" "AMH" "0000081587" "AMH" "0000205619" "AMH" "0000232637" "AMH" ## 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 = 47 "{{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}}" "0000132241" "0" "50" "19" "2249330" "2249330" "subst" "0.000233243" "01783" "AMH_000006" "g.2249330C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.2249331C>T" "" "VUS" "" "0000132251" "0" "50" "19" "2251182" "2251182" "subst" "0" "01783" "AMH_000005" "g.2251182C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.2251183C>A" "" "VUS" "" "0000259075" "0" "10" "19" "2251512" "2251512" "subst" "0.853777" "02325" "AMH_000015" "g.2251512T>A" "" "" "" "AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251513T>A" "" "benign" "" "0000259076" "0" "10" "19" "2249477" "2249477" "subst" "0.766997" "02325" "AMH_000008" "g.2249477G>T" "" "" "" "AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249478G>T" "" "benign" "" "0000259077" "0" "10" "19" "2251817" "2251817" "subst" "0.98097" "02325" "AMH_000017" "g.2251817T>C" "" "" "" "AMH(NM_000479.4):c.1544T>C (p.V515A), AMH(NM_000479.5):c.1544T>C (p.V515A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251818T>C" "" "benign" "" "0000260832" "0" "10" "19" "2251512" "2251512" "subst" "0.853777" "02326" "AMH_000015" "g.2251512T>A" "" "" "" "AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251513T>A" "" "benign" "" "0000260833" "0" "10" "19" "2249477" "2249477" "subst" "0.766997" "02326" "AMH_000008" "g.2249477G>T" "" "" "" "AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249478G>T" "" "benign" "" "0000260834" "0" "30" "19" "2249404" "2249404" "subst" "0" "02326" "AMH_000007" "g.2249404C>T" "" "" "" "AMH(NM_000479.4):c.73C>T (p.L25F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249405C>T" "" "likely benign" "" "0000262427" "0" "30" "19" "2251327" "2251327" "subst" "0.000452137" "01943" "AMH_000014" "g.2251327C>T" "" "" "" "AMH(NM_000479.4):c.1054C>T (p.P352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251328C>T" "" "likely benign" "" "0000262428" "0" "10" "19" "2251512" "2251512" "subst" "0.853777" "01943" "AMH_000015" "g.2251512T>A" "" "" "" "AMH(NM_000479.4):c.1239T>A (p.G413=), AMH(NM_000479.5):c.1239T>A (p.G413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251513T>A" "" "benign" "" "0000262429" "0" "50" "19" "2251736" "2251736" "subst" "1.26404E-5" "01943" "AMH_000016" "g.2251736G>A" "" "" "" "AMH(NM_000479.4):c.1463G>A (p.C488Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251737G>A" "" "VUS" "" "0000262430" "0" "10" "19" "2249477" "2249477" "subst" "0.766997" "01943" "AMH_000008" "g.2249477G>T" "" "" "" "AMH(NM_000479.4):c.146G>T (p.S49I), AMH(NM_000479.5):c.146G>T (p.S49I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249478G>T" "" "benign" "" "0000262431" "0" "10" "19" "2251817" "2251817" "subst" "0.98097" "01943" "AMH_000017" "g.2251817T>C" "" "" "" "AMH(NM_000479.4):c.1544T>C (p.V515A), AMH(NM_000479.5):c.1544T>C (p.V515A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251818T>C" "" "benign" "" "0000262432" "0" "30" "19" "2251829" "2251829" "subst" "0.00156712" "01943" "AMH_000018" "g.2251829C>T" "" "" "" "AMH(NM_000479.4):c.1556C>T (p.A519V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251830C>T" "" "likely benign" "" "0000262433" "0" "50" "19" "2251930" "2251930" "subst" "0.000324394" "01943" "AMH_000019" "g.2251930G>T" "" "" "" "AMH(NM_000479.4):c.1657G>T (p.V553L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2251931G>T" "" "VUS" "" "0000262434" "0" "90" "19" "2249539" "2249539" "dup" "0" "01943" "AMH_000009" "g.2249539dup" "" "" "" "AMH(NM_000479.4):c.208dupC (p.L70Pfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249540dup" "" "pathogenic" "" "0000262435" "0" "10" "19" "2249583" "2249583" "subst" "0.0571073" "01943" "AMH_000010" "g.2249583G>A" "" "" "" "AMH(NM_000479.4):c.252G>A (p.L84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249584G>A" "" "benign" "" "0000262436" "0" "10" "19" "2249634" "2249634" "subst" "0.05953" "01943" "AMH_000011" "g.2249634G>A" "" "" "" "AMH(NM_000479.4):c.303G>A (p.G101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2249635G>A" "" "benign" "" "0000326049" "0" "50" "19" "2250484" "2250484" "dup" "0" "01804" "AMH_000012" "g.2250484dup" "" "" "" "AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2250485dup" "" "VUS" "" "0000326050" "0" "50" "19" "2253774" "2253774" "subst" "0" "01804" "JSRP1_000003" "g.2253774G>A" "" "" "" "JSRP1(NM_144616.3):c.281C>T (p.(Ala94Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2253775G>A" "" "VUS" "" "0000435017" "1" "55" "19" "2251747" "2251747" "subst" "0" "02297" "AMH_000001" "g.2251747T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2251748T>C" "" "VUS" "" "0000435018" "0" "55" "19" "2251909" "2251909" "subst" "3.15374E-5" "02297" "AMH_000002" "g.2251909G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2251910G>A" "" "VUS" "" "0000435019" "0" "55" "19" "2251912" "2251912" "subst" "3.21593E-5" "02297" "AMH_000003" "g.2251912C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.2251913C>G" "" "VUS" "" "0000474934" "11" "90" "19" "2251385" "2251385" "subst" "0" "00006" "AMH_000020" "g.2251385G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.2251386G>A" "" "pathogenic" "" "0000474935" "21" "90" "19" "2251791" "2251791" "subst" "3.45976E-5" "00006" "AMH_000021" "g.2251791C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.2251792C>G" "" "pathogenic" "" "0000566765" "0" "50" "19" "2250374" "2250374" "subst" "4.78991E-5" "01943" "JSRP1_000005" "g.2250374C>T" "" "" "" "AMH(NM_000479.4):c.451C>T (p.P151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2250375C>T" "" "VUS" "" "0000566766" "0" "30" "19" "2250484" "2250484" "dup" "0" "01943" "AMH_000012" "g.2250484dup" "" "" "" "AMH(NM_000479.3):c.555+5_555+6insA (p.?), AMH(NM_000479.4):c.555+6dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2250485dup" "" "likely benign" "" "0000566767" "0" "90" "19" "2250884" "2250885" "ins" "0" "01943" "JSRP1_000006" "g.2250884_2250885insCA" "" "" "" "AMH(NM_000479.4):c.701_702insCA (p.F235Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2250885_2250886insCA" "" "pathogenic" "" "0000623965" "0" "90" "19" "2251386" "2251386" "subst" "0" "02329" "JSRP1_000010" "g.2251386G>A" "" "" "" "AMH(NM_000479.5):c.1113G>A (p.W371*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2251387G>A" "" "pathogenic" "" "0000692733" "0" "50" "19" "2249366" "2249366" "subst" "0.00140323" "01943" "JSRP1_000011" "g.2249366T>G" "" "" "" "AMH(NM_000479.3):c.35T>G (p.(Val12Gly)), AMH(NM_000479.4):c.35T>G (p.V12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692734" "0" "50" "19" "2251137" "2251137" "subst" "0.0010913" "01943" "JSRP1_000012" "g.2251137C>G" "" "" "" "AMH(NM_000479.4):c.864C>G (p.D288E), AMH(NM_000479.5):c.864C>G (p.D288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727233" "0" "30" "19" "2251240" "2251240" "subst" "0.000312078" "01943" "JSRP1_000013" "g.2251240T>C" "" "" "" "AMH(NM_000479.4):c.967T>C (p.F323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808801" "0" "90" "19" "2250659" "2250659" "subst" "0" "01943" "JSRP1_000014" "g.2250659C>A" "" "" "" "AMH(NM_000479.4):c.564C>A (p.C188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808802" "0" "70" "19" "2251178" "2251178" "subst" "6.5655E-5" "01943" "JSRP1_000015" "g.2251178G>A" "" "" "" "AMH(NM_000479.4):c.905G>A (p.R302Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866010" "0" "50" "19" "2249335" "2249335" "subst" "0" "01943" "JSRP1_000016" "g.2249335C>T" "" "" "" "AMH(NM_000479.4):c.4C>T (p.R2W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871593" "0" "70" "19" "2250670" "2250670" "subst" "0.000220677" "03779" "AMH_000022" "g.2250670A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs764521397" "0" "" "" "" "" "likely pathogenic" "" "0000894902" "0" "30" "19" "2251829" "2251829" "subst" "0.00156712" "02326" "AMH_000018" "g.2251829C>T" "" "" "" "AMH(NM_000479.4):c.1556C>T (p.A519V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915181" "0" "50" "19" "2251137" "2251137" "subst" "0.0010913" "02325" "JSRP1_000012" "g.2251137C>G" "" "" "" "AMH(NM_000479.4):c.864C>G (p.D288E), AMH(NM_000479.5):c.864C>G (p.D288E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915182" "0" "50" "19" "2251285" "2251285" "subst" "2.01195E-5" "02325" "JSRP1_000017" "g.2251285C>T" "" "" "" "AMH(NM_000479.5):c.1012C>T (p.R338C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931034" "0" "90" "19" "2250479" "2250479" "subst" "2.73153E-5" "02327" "JSRP1_000018" "g.2250479G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931035" "0" "70" "19" "2251289" "2251289" "subst" "0" "02327" "JSRP1_000019" "g.2251289T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000969652" "0" "90" "19" "2249599" "2249599" "del" "0" "02329" "JSRP1_000020" "g.2249599del" "" "" "" "AMH(NM_000479.5):c.268delG (p.A90Pfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969653" "0" "90" "19" "2249614" "2249614" "subst" "0" "02329" "JSRP1_000021" "g.2249614C>T" "" "" "" "AMH(NM_000479.5):c.283C>T (p.R95*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004571" "0" "30" "19" "2249366" "2249366" "subst" "0.00140323" "01804" "JSRP1_000011" "g.2249366T>G" "" "" "" "AMH(NM_000479.3):c.35T>G (p.(Val12Gly)), AMH(NM_000479.4):c.35T>G (p.V12G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004572" "0" "50" "19" "2253777" "2253777" "subst" "3.54786E-5" "01804" "JSRP1_000022" "g.2253777G>A" "" "" "" "JSRP1(NM_144616.3):c.278C>T (p.(Pro93Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015777" "0" "90" "19" "2250659" "2250659" "subst" "0" "02326" "JSRP1_000014" "g.2250659C>A" "" "" "" "AMH(NM_000479.4):c.564C>A (p.C188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056420" "0" "50" "19" "2254252" "2254252" "subst" "0" "01804" "JSRP1_000023" "g.2254252T>C" "" "" "" "JSRP1(NM_144616.4):c.196A>G (p.(Met66Val))" "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 AMH ## Count = 47 "{{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}}" "0000132241" "00002429" "50" "-2" "0" "-2" "0" "c.-2C>T" "r.(-2c>u)" "p.(Met1ext-1)" "1" "0000132251" "00002429" "50" "909" "0" "909" "0" "c.909C>A" "r.909c>a" "p.(Val303=)" "5" "0000259075" "00002429" "10" "1239" "0" "1239" "0" "c.1239T>A" "r.(?)" "p.(Gly413=)" "" "0000259076" "00002429" "10" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Ser49Ile)" "" "0000259077" "00002429" "10" "1544" "0" "1544" "0" "c.1544=" "r.(=)" "p.(Ala515=)" "" "0000260832" "00002429" "10" "1239" "0" "1239" "0" "c.1239T>A" "r.(?)" "p.(Gly413=)" "" "0000260833" "00002429" "10" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Ser49Ile)" "" "0000260834" "00002429" "30" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Leu25Phe)" "" "0000262427" "00002429" "30" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Pro352Ser)" "" "0000262428" "00002429" "10" "1239" "0" "1239" "0" "c.1239T>A" "r.(?)" "p.(Gly413=)" "" "0000262429" "00002429" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Cys488Tyr)" "" "0000262430" "00002429" "10" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Ser49Ile)" "" "0000262431" "00002429" "10" "1544" "0" "1544" "0" "c.1544=" "r.(=)" "p.(Ala515=)" "" "0000262432" "00002429" "30" "1556" "0" "1556" "0" "c.1556C>T" "r.(?)" "p.(Ala519Val)" "" "0000262433" "00002429" "50" "1657" "0" "1657" "0" "c.1657G>T" "r.(?)" "p.(Val553Leu)" "" "0000262434" "00002429" "90" "208" "0" "208" "0" "c.208dup" "r.(?)" "p.(Leu70ProfsTer11)" "" "0000262435" "00002429" "10" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(Leu84=)" "" "0000262436" "00002429" "10" "303" "0" "303" "0" "c.303G>A" "r.(?)" "p.(Gly101=)" "" "0000326049" "00002429" "50" "555" "6" "555" "6" "c.555+6dup" "r.(=)" "p.(=)" "" "0000326050" "00002429" "50" "3501" "0" "3501" "0" "c.*1818G>A" "r.(=)" "p.(=)" "" "0000435017" "00002429" "55" "1474" "0" "1474" "0" "c.1474T>C" "r.(?)" "p.(Cys492Arg)" "5" "0000435018" "00002429" "55" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Ala546Thr)" "5" "0000435019" "00002429" "55" "1639" "0" "1639" "0" "c.1639C>G" "r.(?)" "p.(His547Asp)" "5" "0000474934" "00002429" "90" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Trp371*)" "" "0000474935" "00002429" "90" "1518" "0" "1518" "0" "c.1518C>G" "r.(?)" "p.(His506Gln)" "" "0000566765" "00002429" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Pro151Ser)" "" "0000566766" "00002429" "30" "555" "6" "555" "6" "c.555+6dup" "r.(=)" "p.(=)" "" "0000566767" "00002429" "90" "701" "0" "702" "0" "c.701_702insCA" "r.(?)" "p.(Phe235SerfsTer12)" "" "0000623965" "00002429" "90" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Trp371Ter)" "" "0000692733" "00002429" "50" "35" "0" "35" "0" "c.35T>G" "r.(?)" "p.(Val12Gly)" "" "0000692734" "00002429" "50" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Asp288Glu)" "" "0000727233" "00002429" "30" "967" "0" "967" "0" "c.967T>C" "r.(?)" "p.(Phe323Leu)" "" "0000808801" "00002429" "90" "564" "0" "564" "0" "c.564C>A" "r.(?)" "p.(Cys188*)" "" "0000808802" "00002429" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302Gln)" "" "0000866010" "00002429" "50" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Trp)" "" "0000871593" "00002429" "70" "575" "0" "575" "0" "c.575A>G" "r.(?)" "p.(Asp192Gly)" "" "0000894902" "00002429" "30" "1556" "0" "1556" "0" "c.1556C>T" "r.(?)" "p.(Ala519Val)" "" "0000915181" "00002429" "50" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Asp288Glu)" "" "0000915182" "00002429" "50" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Cys)" "" "0000931034" "00002429" "90" "555" "1" "555" "1" "c.555+1G>T" "r.spl?" "p.?" "" "0000931035" "00002429" "70" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000969652" "00002429" "90" "268" "0" "268" "0" "c.268del" "r.(?)" "p.(Ala90Profs*49)" "" "0000969653" "00002429" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95*)" "" "0001004571" "00002429" "30" "35" "0" "35" "0" "c.35T>G" "r.(?)" "p.(Val12Gly)" "" "0001004572" "00002429" "50" "3504" "0" "3504" "0" "c.*1821G>A" "r.(=)" "p.(=)" "" "0001015777" "00002429" "90" "564" "0" "564" "0" "c.564C>A" "r.(?)" "p.(Cys188*)" "" "0001056420" "00002429" "50" "3979" "0" "3979" "0" "c.*2296T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000081577" "0000132241" "0000081587" "0000132251" "0000205619" "0000435017" "0000205619" "0000435018" "0000205619" "0000435019" "0000232637" "0000474934" "0000232637" "0000474935"