### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AAAS) # 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}}" "AAAS" "achalasia, adrenocortical insufficiency, alacrimia" "12" "q13" "unknown" "NG_016775.1" "UD_132118874871" "" "http://www.LOVD.nl/AAAS" "" "1" "13666" "8086" "605378" "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/AAAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-25 20:57:02" "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}}" "00024156" "AAAS" "transcript variant 1" "002" "NM_015665.5" "" "NP_056480.1" "" "" "" "-163" "1674" "1641" "53715412" "53701240" "00006" "2016-07-21 20:35:02" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00969" "AAAS" "achalasia-addisonianism-alacrimia syndrome" "AR" "231550" "cerebellum" "adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-28 14:40:08" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AAAS" "00139" "AAAS" "00969" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00290756" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295567" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00374172" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-4266" "00374173" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3752" "00410752" "" "" "" "1" "" "00006" "{PMID:Macke 2022:35570467}" "4-generation family, affected sister/brother , unaffected heterozygous carrier parents/relatives" "M" "" "United States" "" "0" "" "" "" "FamPat29" "00412364" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "F" "" "Sweden" "" "0" "" "" "" "Fam8" "00423275" "" "" "" "2" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, two affected" "F" "" "Turkey" "" "0" "" "" "" "FamIPatI1" "00423276" "" "" "00423275" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "relative" "F" "" "Turkey" "" "0" "" "" "" "FamIPatI2" "00423277" "" "" "" "2" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, two affected" "F" "" "Turkey" "" "0" "" "" "" "FamIIPatI1" "00423278" "" "" "00423277" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "relative" "F" "" "Turkey" "" "0" "" "" "" "FamIIPatI2" "00423279" "" "" "" "2" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, two affected" "F" "" "Turkey" "" "0" "" "" "" "FamIIIPatI1" "00423280" "" "" "00423279" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "relative" "F" "" "Turkey" "" "0" "" "" "" "FamIIIPatI2" "00423281" "" "" "" "2" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, two affected" "M" "" "Turkey" "" "0" "" "" "" "FamIVPatI1" "00423282" "" "" "00423281" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "relative" "F" "" "Turkey" "" "0" "" "" "" "FamIVPatI2" "00423283" "" "" "" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, 1 affected" "M" "" "Turkey" "" "0" "" "" "" "FamVPatI1" "00423284" "" "" "" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, 1 affected" "F" "" "Turkey" "" "0" "" "" "" "FamVIPatI1" "00423285" "" "" "" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, 1 affected" "M" "" "Turkey" "" "0" "" "" "" "FamVIIPatI1" "00423286" "" "" "" "1" "" "00006" "{PMID:Yildirim 2022:36194344}" "family, 1 affected" "M" "" "Turkey" "" "0" "" "" "" "FamVIIIPatI1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00290756" "00198" "00295567" "00198" "00374172" "00198" "00374173" "00198" "00410752" "00969" "00412364" "05611" "00423275" "00969" "00423276" "00969" "00423277" "00969" "00423278" "00969" "00423279" "00969" "00423280" "00969" "00423281" "00969" "00423282" "00969" "00423283" "00969" "00423284" "00969" "00423285" "00969" "00423286" "00969" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00969, 05611 ## Count = 17 "{{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}}" "0000223132" "00198" "00295567" "01164" "Unknown" "" "Abnormality of the curvature of the vertebral column (HP:0010674); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Hip dysplasia (HP:0001385); Abnormality of the esophagus (HP:0002031); Achalasia (HP:0002571); Scoliosis (HP:0002650); Abnormality of the hip bone (HP:0003272); Demyelinating peripheral neuropathy (HP:0007108); Sensorimotor neuropathy (HP:0007141)" "" "" "" "" "" "" "" "" "" "" "" "0000269382" "00198" "00374172" "00006" "Familial, autosomal recessive" "" "Features suggestive of AAA syndrome" "" "" "" "" "" "" "" "" "" "Achalasia-Addisonianism-Alacrima syndrome" "" "0000269383" "00198" "00374173" "00006" "Familial, autosomal recessive" "" "Decreased lacrimation, adrenal insufficiency and achalasia" "" "" "" "" "" "" "" "" "" "Achalasia-Addisonianism-Alacrima syndrome" "" "0000302843" "00969" "00410752" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., lacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, autonomic dysfunction" "" "" "" "" "" "" "" "" "AAAS" "Allgrove syndrome" "" "0000304369" "05611" "00412364" "00006" "Isolated (sporadic)" "" "mild intellectual disability, initially fever induced epilepsy, generalized tonic clonic seizures, hyperactivity, only speaks a few words, microcephaly, valgus feet, hypertelorism, asymmetric facial features , large maxilla, strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000314482" "00969" "00423275" "00006" "Familial, autosomal recessive" "11y4m" "3y3m-adrenal insufficiency; neonatal onset alacrima; 3y5m-onset achalasia; hyperreflexia, learning disability, muscle weakness, delayed walking, nasal speech, excessive sweating; multiple dental caries, atrophy of the thenar/hypothenar muscles" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314483" "00969" "00423276" "00006" "Familial, autosomal recessive" "11y7m" "6y9m-adrenal insufficiency; neonatal onset alacrima; 3y-onset achalasia; learning disability, muscle weakness, delayed walking, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314484" "00969" "00423277" "00006" "Familial, autosomal recessive" "9y2m" "7y2m-adrenal insufficiency; neonatal onset alacrima; muscle weakness, delayed walking, delayed speech; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314485" "00969" "00423278" "00006" "Familial, autosomal recessive" "6y4m" "3y-adrenal insufficiency; neonatal onset alacrima; 3y3m-onset achalasia; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314486" "00969" "00423279" "00006" "Familial, autosomal recessive" "5y" "2y5m-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; excessive sweating; palmoplantar hyperkeratosis," "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314487" "00969" "00423280" "00006" "Familial, autosomal recessive" "2y9m" "neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314488" "00969" "00423281" "00006" "Familial, autosomal recessive" "5y8m" "3y-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; hyperreflexia, delayed walking, delayed speech nasal speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, short stature" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314489" "00969" "00423282" "00006" "Familial, autosomal recessive" "3y11m" "neonatal onset alacrima; 3y9m-onset alacrima; delayed walking, muscle weakness, delayed speech; multiple dental caries, short stature" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314490" "00969" "00423283" "00006" "Familial, autosomal recessive" "14y6m" "5y-adrenal insufficiency; neonatal onset alacrima; 9y-onset achalasia; hyperreflexia, muscle weakness, delayed speech, nasal speech, excessive sweating; multiple dental caries, short stature" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314491" "00969" "00423284" "00006" "Familial, autosomal recessive" "15y6m" "3y-adrenal insufficiency; neonatal onset alacrima; 4y-onset achalasia; hyperreflexia, learning disability; short stature" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314492" "00969" "00423285" "00006" "Familial, autosomal recessive" "9y7m" "2y7m-adrenal insufficiency; neonatal onset alacrima; hyperreflexia, nasal speech, epilepsy; multiple dental caries, atrophy of the thenar/hypothenar muscles" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" "0000314493" "00969" "00423286" "00006" "Familial, autosomal recessive" "12y9m" "3y-adrenal insufficiency; neonatal onset alacrima; 11y3m-onset achalasia; hyperreflexia, muscle weakness, nasal speech, optic atrophy; multiple dental caries" "" "" "" "" "" "" "" "" "AAAS" "triple A syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291924" "00290756" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296737" "00295567" "1" "01164" "01164" "2020-03-18 10:48:26" "" "" "SEQ-NG-S" "DNA" "" "" "0000375366" "00374172" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375367" "00374173" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000412017" "00410752" "1" "00006" "00006" "2022-05-30 13:15:01" "" "" "SEQ" "DNA" "" "" "0000413636" "00412364" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000424585" "00423275" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424586" "00423276" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424587" "00423277" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424588" "00423278" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424589" "00423279" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424590" "00423280" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424591" "00423281" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424592" "00423282" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424593" "00423283" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424594" "00423284" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424595" "00423285" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" "0000424596" "00423286" "1" "00006" "00006" "2022-11-14 16:58:58" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000375366" "AAAS" "0000375367" "AAAS" "0000412017" "AAAS" "0000424585" "AAAS" "0000424586" "AAAS" "0000424587" "AAAS" "0000424588" "AAAS" "0000424589" "AAAS" "0000424590" "AAAS" "0000424591" "AAAS" "0000424592" "AAAS" "0000424593" "AAAS" "0000424594" "AAAS" "0000424595" "AAAS" "0000424596" "AAAS" ## 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}}" "0000249173" "0" "10" "12" "53714496" "53714496" "subst" "0.981957" "02325" "AAAS_000007" "g.53714496A>G" "" "" "" "AAAS(NM_015665.6):c.124-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53320712A>G" "" "benign" "" "0000258819" "0" "10" "12" "53703021" "53703021" "subst" "0.979828" "02325" "AAAS_000005" "g.53703021G>A" "" "" "" "AAAS(NM_015665.6):c.855C>T (p.F285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53309237G>A" "" "benign" "" "0000259837" "0" "90" "12" "53701835" "53701835" "subst" "4.4669E-5" "02329" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A, AAAS(NM_015665.6):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308051C>T" "" "pathogenic" "" "0000261561" "0" "30" "12" "53701866" "53701866" "subst" "0.000706599" "01943" "AAAS_000003" "g.53701866C>T" "" "" "" "AAAS(NM_015665.5):c.1301G>A (p.R434Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308082C>T" "" "likely benign" "" "0000322893" "0" "50" "12" "53700866" "53700866" "subst" "2.84375E-5" "01804" "C12orf10_000001" "g.53700866G>A" "" "" "" "C12orf10(NM_021640.3):c.1064G>A (p.(Arg355Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53307082G>A" "" "VUS" "" "0000322895" "0" "50" "12" "53702572" "53702572" "subst" "8.12717E-6" "01804" "AAAS_000004" "g.53702572G>A" "" "" "" "AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308788G>A" "" "VUS" "" "0000338380" "0" "90" "12" "53701835" "53701835" "subst" "4.4669E-5" "02327" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A, AAAS(NM_015665.6):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53308051C>T" "" "pathogenic" "" "0000548622" "0" "10" "12" "53708092" "53708092" "subst" "0.00480422" "01943" "AAAS_000008" "g.53708092A>G" "" "" "" "AAAS(NM_015665.5):c.679T>C (p.L227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53314308A>G" "" "benign" "" "0000614299" "0" "90" "12" "53701835" "53701835" "subst" "4.4669E-5" "01943" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A, AAAS(NM_015665.6):c.1331+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308051C>T" "" "pathogenic" "" "0000614300" "0" "30" "12" "53702058" "53702058" "subst" "0.000361404" "01943" "C12orf10_000003" "g.53702058C>T" "" "" "" "AAAS(NM_015665.5):c.1249+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308274C>T" "" "likely benign" "" "0000614301" "0" "30" "12" "53709162" "53709162" "subst" "0.000293038" "01943" "AAAS_000010" "g.53709162C>T" "" "" "" "AAAS(NM_015665.5):c.356G>A (p.R119Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53315378C>T" "" "likely benign" "" "0000614302" "0" "90" "12" "53715207" "53715207" "subst" "0.000190917" "01804" "AAAS_000011" "g.53715207G>T" "" "" "" "AAAS(NM_015665.5):c.43C>A (p.(Gln15Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53321423G>T" "" "pathogenic" "" "0000622935" "0" "30" "12" "53701500" "53701500" "subst" "0" "01943" "C12orf10_000002" "g.53701500G>A" "" "" "" "AAAS(NM_015665.5):c.1417-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53307716G>A" "" "likely benign" "" "0000648613" "1" "70" "12" "53703408" "53703408" "subst" "0.000110678" "03575" "AAAS_000012" "g.53703408A>G" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918550}" "Germline" "" "rs121918550" "0" "" "" "g.53309624A>G" "" "likely pathogenic" "" "0000653437" "3" "90" "12" "53708616" "53708616" "subst" "2.03918E-5" "01164" "AAAS_000013" "g.53708616C>T" "" "" "" "" "" "Germline" "" "rs758440592" "0" "" "" "g.53314832C>T" "" "pathogenic" "ACMG" "0000657152" "0" "30" "12" "53702081" "53702081" "subst" "6.49699E-5" "01804" "C12orf10_000004" "g.53702081C>T" "" "" "" "AAAS(NM_001173466.1):c.1135G>A (p.(Ala379Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308297C>T" "" "likely benign" "" "0000657153" "0" "70" "12" "53702572" "53702572" "subst" "8.12717E-6" "01943" "AAAS_000004" "g.53702572G>A" "" "" "" "AAAS(NM_001173466.1):c.925C>T (p.(Arg309Ter)), AAAS(NM_015665.5):c.1024C>T (p.R342*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53308788G>A" "" "likely pathogenic" "" "0000691379" "0" "30" "12" "53701471" "53701471" "subst" "0" "01943" "C12orf10_000005" "g.53701471G>A" "" "" "" "AAAS(NM_015665.5):c.1443C>T (p.H481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724136" "0" "50" "12" "53702960" "53702960" "subst" "4.06075E-6" "02325" "C12orf10_000006" "g.53702960T>G" "" "" "" "AAAS(NM_015665.6):c.916A>C (p.T306P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724137" "0" "50" "12" "53715194" "53715194" "subst" "4.0627E-6" "01943" "AAAS_000014" "g.53715194T>C" "" "" "" "AAAS(NM_015665.5):c.56A>G (p.Y19C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786717" "3" "90" "12" "53715207" "53715207" "subst" "0.000190917" "00006" "AAAS_000011" "g.53715207G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.53321423G>T" "" "pathogenic" "" "0000786718" "3" "90" "12" "53703020" "53703021" "delins" "0" "00006" "AAAS_000015" "g.53703020_53703021delinsAA" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.53309236_53309237delinsAA" "" "pathogenic" "" "0000805838" "0" "30" "12" "53701621" "53701621" "subst" "0.000373719" "01943" "C12orf10_000007" "g.53701621G>A" "" "" "" "AAAS(NM_015665.5):c.1416+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805839" "0" "30" "12" "53702994" "53702994" "subst" "0.000284259" "01943" "C12orf10_000008" "g.53702994G>A" "" "" "" "AAAS(NM_015665.5):c.882C>T (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853457" "0" "50" "12" "53701436" "53701436" "subst" "8.1369E-6" "02327" "C12orf10_000009" "g.53701436C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869273" "11" "90" "12" "53714390" "53714390" "del" "0" "00006" "AAAS_000016" "g.53714390del" "" "{PMID:Macke 2022:35570467}" "" "211delC" "" "Germline" "yes" "" "0" "" "" "g.53320606del" "" "pathogenic (recessive)" "ACMG" "0000869274" "21" "70" "12" "53703386" "53703386" "subst" "0" "00006" "AAAS_000017" "g.53703386C>G" "" "{PMID:Macke 2022:35570467}" "" "" "" "Germline" "yes" "" "0" "" "" "g.53309602C>G" "" "VUS" "ACMG" "0000871166" "0" "50" "12" "53702981" "53702981" "subst" "2.03046E-5" "00006" "AAAS_000018" "g.53702981C>T" "" "{PMID:Halvardson 2016:27334371}" "" "G895A (G299S)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000900667" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900668" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900669" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900670" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900671" "3" "90" "12" "53701482" "53701482" "subst" "3.67041E-5" "00006" "AAAS_000019" "g.53701482G>A" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs121918548" "0" "" "" "g.53307698G>A" "" "pathogenic (recessive)" "ACMG" "0000900672" "3" "90" "12" "53701482" "53701482" "subst" "3.67041E-5" "00006" "AAAS_000019" "g.53701482G>A" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs121918548" "0" "" "" "g.53307698G>A" "" "pathogenic (recessive)" "ACMG" "0000900673" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900674" "3" "90" "12" "53702529" "53702530" "del" "2.43744E-5" "00006" "AAAS_000022" "g.53702529_53702530del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs763216820" "0" "" "" "g.53308745_53308746del" "" "pathogenic (recessive)" "ACMG" "0000900675" "3" "90" "12" "53701918" "53701918" "subst" "0" "00006" "AAAS_000021" "g.53701918C>T" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "" "0" "" "" "g.53308134C>T" "" "pathogenic (recessive)" "ACMG" "0000900676" "3" "90" "12" "53709122" "53709125" "del" "0" "00006" "AAAS_000024" "g.53709122_53709125del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "" "0" "" "" "g.53315338_53315341del" "" "pathogenic (recessive)" "ACMG" "0000900677" "3" "90" "12" "53708083" "53708083" "subst" "2.03057E-5" "00006" "AAAS_000023" "g.53708083G>A" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "rs758057774" "0" "" "" "g.53314299G>A" "" "pathogenic (recessive)" "ACMG" "0000900678" "3" "90" "12" "53701675" "53701679" "del" "0" "00006" "AAAS_000020" "g.53701675_53701679del" "" "{PMID:Yildirim 2022:36194344}" "" "" "" "Germline" "" "" "0" "" "" "g.53307891_53307895del" "1323239" "pathogenic (recessive)" "ACMG" "0000966993" "0" "90" "12" "53701482" "53701482" "subst" "3.67041E-5" "02329" "AAAS_000019" "g.53701482G>A" "" "" "" "AAAS(NM_015665.6):c.1432C>T (p.R478*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980371" "0" "50" "12" "53708163" "53708163" "subst" "0" "01804" "AAAS_000025" "g.53708163G>T" "" "" "" "AAAS(NM_015665.5):c.608C>A (p.(Pro203His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039340" "0" "90" "12" "53701835" "53701835" "subst" "4.4669E-5" "01804" "AAAS_000002" "g.53701835C>T" "" "" "" "AAAS(NM_015665.5):c.1331+1G>A, AAAS(NM_015665.6):c.1331+1G>A" "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 AAAS ## 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}}" "0000249173" "00024156" "10" "124" "-20" "124" "-20" "c.124-20T>C" "r.(=)" "p.(=)" "" "0000258819" "00024156" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Phe285=)" "" "0000259837" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000261561" "00024156" "30" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Arg434Gln)" "" "0000322893" "00024156" "50" "2048" "0" "2048" "0" "c.*407C>T" "r.(=)" "p.(=)" "" "0000322895" "00024156" "50" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Ter)" "" "0000338380" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000548622" "00024156" "10" "679" "0" "679" "0" "c.679T>C" "r.(?)" "p.(Leu227=)" "" "0000614299" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" "0000614300" "00024156" "30" "1249" "8" "1249" "8" "c.1249+8G>A" "r.(=)" "p.(=)" "" "0000614301" "00024156" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0000614302" "00024156" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" "0000622935" "00024156" "30" "1417" "-3" "1417" "-3" "c.1417-3C>T" "r.spl?" "p.?" "" "0000648613" "00024156" "70" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Ser263Pro)" "" "0000653437" "00024156" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000657152" "00024156" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Ala412Thr)" "" "0000657153" "00024156" "70" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Arg342Ter)" "" "0000691379" "00024156" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(His481=)" "" "0000724136" "00024156" "50" "916" "0" "916" "0" "c.916A>C" "r.(?)" "p.(Thr306Pro)" "" "0000724137" "00024156" "50" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(Tyr19Cys)" "" "0000786717" "00024156" "90" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "1" "0000786718" "00024156" "90" "855" "0" "856" "0" "c.855_856delinsTT" "r.(?)" "p.(Arg286Ter)" "9" "0000805838" "00024156" "30" "1416" "8" "1416" "8" "c.1416+8C>T" "r.(=)" "p.(=)" "" "0000805839" "00024156" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Leu294=)" "" "0000853457" "00024156" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000869273" "00024156" "90" "211" "0" "211" "0" "c.211delC" "r.(?)" "p.(His71Ilefs*23)" "" "0000869274" "00024156" "70" "809" "0" "809" "0" "c.809G>C" "r.(?)" "p.(Arg270Pro)" "" "0000871166" "00024156" "50" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Ser)" "" "0000900667" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900668" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900669" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900670" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900671" "00024156" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Ter)" "" "0000900672" "00024156" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Ter)" "" "0000900673" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900674" "00024156" "90" "1066" "0" "1067" "0" "c.1066_1067del" "r.(?)" "p.(Leu356ValfsTer8)" "" "0000900675" "00024156" "90" "1250" "-1" "1250" "-1" "c.1250-1G>A" "r.spl" "p.?" "" "0000900676" "00024156" "90" "398" "0" "399" "2" "c.398_399+2del" "r.spl" "p.?" "" "0000900677" "00024156" "90" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Ter)" "" "0000900678" "00024156" "90" "1368" "0" "1372" "0" "c.1368_1372del" "r.(?)" "p.(Gln456HisfsTer38)" "" "0000966993" "00024156" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478*)" "" "0000980371" "00024156" "50" "608" "0" "608" "0" "c.608C>A" "r.(?)" "p.(Pro203His)" "" "0001039340" "00024156" "90" "1331" "1" "1331" "1" "c.1331+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000291924" "0000648613" "0000296737" "0000653437" "0000375366" "0000786717" "0000375367" "0000786718" "0000412017" "0000869273" "0000412017" "0000869274" "0000413636" "0000871166" "0000424585" "0000900667" "0000424586" "0000900668" "0000424587" "0000900669" "0000424588" "0000900670" "0000424589" "0000900671" "0000424590" "0000900672" "0000424591" "0000900673" "0000424592" "0000900674" "0000424593" "0000900675" "0000424594" "0000900676" "0000424595" "0000900677" "0000424596" "0000900678"