### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAB1) # 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}}" "STAB1" "stabilin 1" "3" "p21.31" "unknown" "NC_000003.11" "UD_132464908152" "" "https://www.LOVD.nl/STAB1" "" "1" "18628" "23166" "608560" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/STAB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-04 19:35:52" "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}}" "00020405" "STAB1" "stabilin 1" "001" "NM_015136.2" "" "NP_055951.2" "" "" "" "-74" "7852" "7713" "52529356" "52558511" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07017" "HRFT" "hyperferritinemia" "" "" "" "" "" "00006" "2023-08-04 19:35:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "STAB1" "07017" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00267047" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "2-generation family, 2 homozygous affected sisters (I1, I3), heterozygous carrier parents" "F" "" "Mexico" "02y" "0" "" "" "Hispanic" "Fam2PatI1" "00416242" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat8" "00435581" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Italy" "" "0" "" "" "" "FamAPat1" "00435582" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, affected brothers" "M" "yes" "Italy" "" "0" "" "" "" "FamBPat2" "00435583" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "brother" "M" "yes" "Italy" "" "0" "" "" "" "FamBPat3" "00435584" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, affected sisters, unaffected heterozygous parents" "F" "no" "Italy" "" "0" "" "" "" "FamCPat4" "00435585" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "sister" "F" "no" "Italy" "" "0" "" "" "" "FamCPat5" "00435586" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, affected brothers, unaffected heterozygous parents" "M" "no" "Italy" "" "0" "" "" "" "FamDPat6" "00435587" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "brother" "M" "no" "Italy" "" "0" "" "" "" "FamDPat7" "00435588" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Italy" "" "0" "" "" "" "FamEPat8" "00435589" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Italy" "" "0" "" "" "" "FamFPat9" "00435590" "" "" "" "1" "" "00006" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Italy" "" "0" "" "" "" "FamGPat10" "00447962" "" "" "" "4" "" "00006" "{PMID:Chia 2018:29784083}" "2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs" "M" "yes" "Jordan" "" "0" "" "" "" "FamPatII1" "00447963" "" "" "00447962" "1" "" "00006" "{PMID:Chia 2018:29784083}" "affected sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamPatII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00267047" "00174" "00416242" "00139" "00435581" "07017" "00435582" "07017" "00435583" "07017" "00435584" "07017" "00435585" "07017" "00435586" "07017" "00435587" "07017" "00435588" "07017" "00435589" "07017" "00435590" "07017" "00447962" "05611" "00447963" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00174, 05611, 07017 ## Count = 14 "{{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}}" "0000204977" "00174" "00267047" "03462" "Familial, autosomal dominant" "02y" "LDL 672mg/dl" "" "" "HP:0003124" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" "0000308009" "00139" "00416242" "00006" "Isolated (sporadic)" "06y04m" "severe syndromic intellectual disability" "00y07m" "" "" "" "" "" "" "" "intellectual disability" "0000325766" "07017" "00435581" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325767" "07017" "00435582" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325768" "07017" "00435583" "00006" "Familial, autosomal recessive" "49y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325769" "07017" "00435584" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325770" "07017" "00435585" "00006" "Familial, autosomal recessive" "34y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325771" "07017" "00435586" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325772" "07017" "00435587" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325773" "07017" "00435588" "00006" "Familial, autosomal recessive" "60y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325774" "07017" "00435589" "00006" "Familial, autosomal recessive" "56y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000325775" "07017" "00435590" "00006" "Familial, autosomal recessive" "61y" "see paper; ..., hyperferritinemia without iron overload, high serum ferritin level, good health, no dysmorphologies,non psycho-motor development abnormalities,no hearing loss, no vision disorder, no history of high alcohol intake, no inherited or acquired causes of hyperferritinemia" "" "" "" "" "" "" "" "" "hyperferritinemia" "0000337152" "05611" "00447962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "0000337153" "05611" "00447963" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "MRT63" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000268176" "00267047" "1" "03462" "03462" "2019-11-01 04:28:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000417522" "00416242" "1" "00006" "00006" "2022-08-25 18:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437060" "00435581" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437061" "00435582" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437062" "00435583" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437063" "00435584" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437064" "00435585" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437065" "00435586" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437066" "00435587" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437067" "00435588" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437068" "00435589" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437069" "00435590" "1" "00006" "00006" "2023-08-04 20:46:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449535" "00447962" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449536" "00447963" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000268176" "LDLR" ## 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 = 43 "{{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}}" "0000304653" "0" "50" "3" "52561936" "52561936" "subst" "0" "01943" "NT5DC2_000001" "g.52561936G>T" "" "" "" "NT5DC2(NM_022908.2):c.733C>A (p.L245M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52527920G>T" "" "VUS" "" "0000520389" "0" "30" "3" "52537010" "52537010" "subst" "0.00744685" "01804" "STAB1_000004" "g.52537010C>T" "" "" "" "STAB1(NM_015136.2):c.584-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52502994C>T" "" "likely benign" "" "0000520390" "0" "30" "3" "52537357" "52537357" "subst" "0.000372975" "01804" "STAB1_000003" "g.52537357C>A" "" "" "" "STAB1(NM_015136.2):c.695-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52503341C>A" "" "likely benign" "" "0000520392" "0" "50" "3" "52547757" "52547757" "subst" "7.32607E-5" "01943" "STAB1_000005" "g.52547757G>A" "" "" "" "STAB1(NM_015136.2):c.3295G>A (p.(Val1099Met)), STAB1(NM_015136.3):c.3295G>A (p.V1099M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52513741G>A" "" "VUS" "" "0000520393" "0" "50" "3" "52551410" "52551410" "subst" "0" "01943" "STAB1_000006" "g.52551410G>T" "" "" "" "STAB1(NM_015136.3):c.4563+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52517394G>T" "" "VUS" "" "0000601041" "11" "70" "3" "52556168" "52556168" "subst" "0.000924779" "03462" "STAB1_000001" "g.52556168C>G" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "" "" "Germline" "" "rs566837633" "0" "" "" "g.52522152C>G" "" "VUS" "" "0000689126" "0" "50" "3" "52553301" "52553301" "subst" "0.000215663" "01943" "STAB1_000010" "g.52553301T>G" "" "" "" "STAB1(NM_015136.3):c.5056T>G (p.F1686V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719552" "0" "30" "3" "52544385" "52544385" "subst" "0" "02325" "STAB1_000011" "g.52544385C>T" "" "" "" "STAB1(NM_015136.3):c.2649C>T (p.S883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801329" "0" "50" "3" "52548457" "52548457" "subst" "0" "01943" "STAB1_000012" "g.52548457G>A" "" "" "" "STAB1(NM_015136.3):c.3623G>A (p.R1208H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801330" "0" "50" "3" "52557912" "52557912" "del" "0" "01943" "STAB1_000013" "g.52557912del" "" "" "" "STAB1(NM_015136.3):c.7421delC (p.P2474Hfs*126)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850385" "0" "50" "3" "52559106" "52559106" "subst" "1.55442E-5" "01943" "NT5DC2_000007" "g.52559106C>T" "" "" "" "NT5DC2(NM_022908.2):c.1109G>A (p.R370Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850386" "0" "30" "3" "52567566" "52567566" "subst" "0.000185578" "01943" "NT5DC2_000008" "g.52567566G>C" "" "" "" "NT5DC2(NM_001134231.2):c.188C>G (p.A63G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859103" "0" "50" "3" "52546895" "52546895" "subst" "4.93547E-5" "01943" "STAB1_000014" "g.52546895T>C" "" "" "" "STAB1(NM_015136.3):c.3079T>C (p.S1027P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859104" "0" "50" "3" "52553535" "52553535" "subst" "0.000260235" "01943" "STAB1_000009" "g.52553535C>T" "" "" "" "STAB1(NM_015136.3):c.5190C>T (p.A1730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877227" "0" "50" "3" "52537851" "52537851" "subst" "1.62825E-5" "00006" "STAB1_000002" "g.52537851G>A" "" "{PMID:Monroe 2016:26845106}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000931816" "3" "90" "3" "52556690" "52556690" "subst" "3.25359E-5" "00006" "STAB1_000021" "g.52556690T>C" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs141939118" "0" "" "" "g.52522674T>C" "" "pathogenic (recessive)" "" "0000931817" "3" "90" "3" "52554528" "52554562" "delins" "0" "00006" "STAB1_000020" "g.52554528_52554562delinsG" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "" "0" "" "" "g.52520512_52520546delinsG" "" "pathogenic (recessive)" "" "0000931818" "3" "90" "3" "52554528" "52554562" "delins" "0" "00006" "STAB1_000020" "g.52554528_52554562delinsG" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "" "0" "" "" "g.52520512_52520546delinsG" "" "pathogenic (recessive)" "" "0000931819" "11" "90" "3" "52538063" "52538063" "subst" "0" "00006" "STAB1_000016" "g.52538063G>A" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs754318051" "0" "" "" "g.52504047G>A" "" "pathogenic (recessive)" "" "0000931820" "11" "90" "3" "52538063" "52538063" "subst" "0" "00006" "STAB1_000016" "g.52538063G>A" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs754318051" "0" "" "" "g.52504047G>A" "" "pathogenic (recessive)" "" "0000931821" "11" "70" "3" "52542309" "52542317" "del" "0" "00006" "STAB1_000017" "g.52542309_52542317del" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "" "0" "" "" "g.52508293_52508301del" "" "likely pathogenic (recessive)" "" "0000931822" "11" "70" "3" "52542309" "52542317" "del" "0" "00006" "STAB1_000017" "g.52542309_52542317del" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "" "0" "" "" "g.52508293_52508301del" "" "likely pathogenic (recessive)" "" "0000931823" "21" "90" "3" "52556690" "52556690" "subst" "3.25359E-5" "00006" "STAB1_000021" "g.52556690T>C" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs141939118" "0" "" "" "g.52522674T>C" "" "pathogenic (recessive)" "" "0000931824" "11" "90" "3" "52536048" "52536048" "subst" "4.07014E-6" "00006" "STAB1_000015" "g.52536048T>A" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs778572255" "0" "" "" "g.52502032T>A" "" "pathogenic (recessive)" "" "0000931825" "3" "90" "3" "52556690" "52556690" "subst" "3.25359E-5" "00006" "STAB1_000021" "g.52556690T>C" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs141939118" "0" "" "" "g.52522674T>C" "" "pathogenic (recessive)" "" "0000931826" "21" "90" "3" "52557705" "52557705" "subst" "4.07349E-6" "00006" "STAB1_000023" "g.52557705G>A" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs748728975" "0" "" "" "g.52523689G>A" "" "pathogenic (recessive)" "" "0000931827" "21" "90" "3" "52557705" "52557705" "subst" "4.07349E-6" "00006" "STAB1_000023" "g.52557705G>A" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs748728975" "0" "" "" "g.52523689G>A" "" "pathogenic (recessive)" "" "0000931828" "21" "90" "3" "52547914" "52547914" "dup" "0" "00006" "STAB1_000019" "g.52547914dup" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs563085224" "0" "" "" "g.52513898dup" "" "pathogenic (recessive)" "" "0000931829" "21" "90" "3" "52547914" "52547914" "dup" "0" "00006" "STAB1_000019" "g.52547914dup" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs563085224" "0" "" "" "g.52513898dup" "" "pathogenic (recessive)" "" "0000931830" "11" "90" "3" "52557146" "52557146" "subst" "0" "00006" "STAB1_000022" "g.52557146A>G" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "Germline" "" "rs1484029620" "0" "" "" "g.52523130A>G" "" "pathogenic (recessive)" "" "0000931831" "21" "50" "3" "52543890" "52543890" "subst" "0" "00006" "STAB1_000018" "g.52543890C>T" "" "{PMID:Monfrini 2023:37490907}, {DOI:Monfrini 2023:10.1016/j.ajhg.2023.07.004}" "" "" "" "De novo" "" "rs898828640" "0" "" "" "g.52509874C>T" "" "VUS" "" "0000959863" "3" "50" "3" "52556184" "52556184" "subst" "0.0010145" "00006" "STAB1_000024" "g.52556184C>G" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.52522168C>G" "" "likely benign" "" "0000959936" "3" "50" "3" "52556184" "52556184" "subst" "0.0010145" "00006" "STAB1_000024" "g.52556184C>G" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.52522168C>G" "" "likely benign" "" "0000975927" "0" "30" "3" "52548194" "52548194" "subst" "0.00204926" "01804" "NT5DC2_000010" "g.52548194C>T" "" "" "" "STAB1(NM_015136.3):c.3511C>T (p.(Arg1171Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975928" "0" "30" "3" "52556865" "52556865" "subst" "0.000711145" "01804" "NT5DC2_000011" "g.52556865G>A" "" "" "" "STAB1(NM_015136.3):c.6819G>A (p.(Ala2273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975929" "0" "30" "3" "52557921" "52557921" "subst" "0.00101958" "01804" "NT5DC2_000012" "g.52557921C>T" "" "" "" "STAB1(NM_015136.3):c.7430C>T (p.(Ala2477Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993811" "0" "30" "3" "52540192" "52540192" "subst" "0.000140676" "01804" "NT5DC2_000013" "g.52540192G>A" "" "" "" "STAB1(NM_015136.2):c.1756G>A (p.(Val586Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993812" "0" "30" "3" "52547757" "52547757" "subst" "7.32607E-5" "01804" "STAB1_000005" "g.52547757G>A" "" "" "" "STAB1(NM_015136.2):c.3295G>A (p.(Val1099Met)), STAB1(NM_015136.3):c.3295G>A (p.V1099M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993813" "0" "30" "3" "52548465" "52548465" "subst" "0.000221476" "01804" "NT5DC2_000014" "g.52548465C>T" "" "" "" "STAB1(NM_015136.2):c.3631C>T (p.(Leu1211Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993814" "0" "30" "3" "52549487" "52549487" "subst" "1.2205E-5" "01804" "NT5DC2_000015" "g.52549487C>T" "" "" "" "STAB1(NM_015136.2):c.3913C>T (p.(Arg1305Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993815" "0" "30" "3" "52554029" "52554029" "subst" "5.71601E-5" "01804" "NT5DC2_000016" "g.52554029G>T" "" "" "" "STAB1(NM_015136.2):c.5305G>T (p.(Ala1769Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993816" "0" "30" "3" "52558126" "52558126" "subst" "4.0621E-6" "01804" "NT5DC2_000017" "g.52558126A>C" "" "" "" "STAB1(NM_015136.2):c.7553A>C (p.(Asp2518Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034083" "0" "30" "3" "52556632" "52556632" "subst" "0.00300222" "01804" "NT5DC2_000018" "g.52556632G>A" "" "" "" "STAB1(NM_015136.3):c.6672G>A (p.(Ser2224=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 STAB1 ## Count = 43 "{{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}}" "0000304653" "00020405" "50" "11277" "0" "11277" "0" "c.*3564G>T" "r.(=)" "p.(=)" "" "0000520389" "00020405" "30" "584" "-5" "584" "-5" "c.584-5C>T" "r.spl?" "p.?" "" "0000520390" "00020405" "30" "695" "-3" "695" "-3" "c.695-3C>A" "r.spl?" "p.?" "" "0000520392" "00020405" "50" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Val1099Met)" "" "0000520393" "00020405" "50" "4563" "1" "4563" "1" "c.4563+1G>T" "r.spl?" "p.?" "" "0000601041" "00020405" "70" "6387" "0" "6387" "0" "c.6387C>G" "r.(?)" "p.(Ser2129Arg)" "" "0000689126" "00020405" "50" "5056" "0" "5056" "0" "c.5056T>G" "r.(?)" "p.(Phe1686Val)" "" "0000719552" "00020405" "30" "2649" "0" "2649" "0" "c.2649C>T" "r.(?)" "p.(Ser883=)" "" "0000801329" "00020405" "50" "3623" "0" "3623" "0" "c.3623G>A" "r.(?)" "p.(Arg1208His)" "" "0000801330" "00020405" "50" "7421" "0" "7421" "0" "c.7421del" "r.(?)" "p.(Pro2474Hisfs*126)" "" "0000850385" "00020405" "50" "8447" "0" "8447" "0" "c.*734C>T" "r.(=)" "p.(=)" "" "0000850386" "00020405" "30" "16907" "0" "16907" "0" "c.*9194G>C" "r.(=)" "p.(=)" "" "0000859103" "00020405" "50" "3079" "0" "3079" "0" "c.3079T>C" "r.(?)" "p.(Ser1027Pro)" "" "0000859104" "00020405" "50" "5190" "0" "5190" "0" "c.5190C>T" "r.(?)" "p.(Ala1730=)" "" "0000877227" "00020405" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "" "0000931816" "00020405" "90" "6730" "0" "6730" "0" "c.6730T>C" "r.(?)" "p.(Ser2244Pro)" "" "0000931817" "00020405" "90" "5612" "0" "5646" "0" "c.5612_5646delinsG" "r.(?)" "p.(Ala1871GlyfsTer2)" "" "0000931818" "00020405" "90" "5612" "0" "5646" "0" "c.5612_5646delinsG" "r.(?)" "p.(Ala1871GlyfsTer2)" "" "0000931819" "00020405" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Glu348Lys)" "" "0000931820" "00020405" "90" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Glu348Lys)" "" "0000931821" "00020405" "70" "2169" "0" "2177" "0" "c.2169_2177del" "r.(?)" "p.(Phe724_Gly726del)" "" "0000931822" "00020405" "70" "2169" "0" "2177" "0" "c.2169_2177del" "r.(?)" "p.(Phe724_Gly726del)" "" "0000931823" "00020405" "90" "6730" "0" "6730" "0" "c.6730T>C" "r.(?)" "p.(Ser2244Pro)" "" "0000931824" "00020405" "90" "358" "0" "358" "0" "c.358T>A" "r.(?)" "p.(Cys120Ser)" "" "0000931825" "00020405" "90" "6730" "0" "6730" "0" "c.6730T>C" "r.(?)" "p.(Ser2244Pro)" "" "0000931826" "00020405" "90" "7328" "0" "7328" "0" "c.7328G>A" "r.(?)" "p.(Trp2443Ter)" "" "0000931827" "00020405" "90" "7328" "0" "7328" "0" "c.7328G>A" "r.(?)" "p.(Trp2443Ter)" "" "0000931828" "00020405" "90" "3364" "0" "3364" "0" "c.3364dup" "r.(?)" "p.(Arg1122ProfsTer37)" "" "0000931829" "00020405" "90" "3364" "0" "3364" "0" "c.3364dup" "r.(?)" "p.(Arg1122ProfsTer37)" "" "0000931830" "00020405" "90" "7016" "0" "7016" "0" "c.7016A>G" "r.(?)" "p.(Tyr2339Cys)" "" "0000931831" "00020405" "50" "2352" "0" "2352" "0" "c.2352C>T" "r.spl?" "p.(Cys784=)" "" "0000959863" "00020405" "50" "6403" "0" "6403" "0" "c.6403C>G" "r.(?)" "p.(Pro2135Ala)" "" "0000959936" "00020405" "50" "6403" "0" "6403" "0" "c.6403C>G" "r.(?)" "p.(Pro2135Ala)" "" "0000975927" "00020405" "30" "3511" "0" "3511" "0" "c.3511C>T" "r.(?)" "p.(Arg1171Cys)" "" "0000975928" "00020405" "30" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(=)" "" "0000975929" "00020405" "30" "7430" "0" "7430" "0" "c.7430C>T" "r.(?)" "p.(Ala2477Val)" "" "0000993811" "00020405" "30" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Val586Ile)" "" "0000993812" "00020405" "30" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Val1099Met)" "" "0000993813" "00020405" "30" "3631" "0" "3631" "0" "c.3631C>T" "r.(?)" "p.(Leu1211Phe)" "" "0000993814" "00020405" "30" "3913" "0" "3913" "0" "c.3913C>T" "r.(?)" "p.(Arg1305Trp)" "" "0000993815" "00020405" "30" "5305" "0" "5305" "0" "c.5305G>T" "r.(?)" "p.(Ala1769Ser)" "" "0000993816" "00020405" "30" "7553" "0" "7553" "0" "c.7553A>C" "r.(?)" "p.(Asp2518Ala)" "" "0001034083" "00020405" "30" "6672" "0" "6672" "0" "c.6672G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000268176" "0000601041" "0000417522" "0000877227" "0000437060" "0000931816" "0000437061" "0000931817" "0000437062" "0000931818" "0000437063" "0000931819" "0000437063" "0000931826" "0000437064" "0000931820" "0000437064" "0000931827" "0000437065" "0000931821" "0000437065" "0000931828" "0000437066" "0000931822" "0000437066" "0000931829" "0000437067" "0000931823" "0000437067" "0000931830" "0000437068" "0000931824" "0000437068" "0000931831" "0000437069" "0000931825" "0000449535" "0000959863" "0000449536" "0000959936"