ASAH1 — 970 ClinVar variants
All ClinVar germline ASAH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 309 flagged for review →
57 Pathogenic · 13 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 27 Conflicting · 107 Benign · 9 Benign/Likely benign · 366 Likely benign · 341 Uncertain significance
Full ASAH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 309
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 6
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ASAH1 p.Lys152Asn
Pathogenic
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Thr42Met
Pathogenic/Likely pathogenic
Multiple submitters
ASAH1-related disorders
-
ASAH1 p.Glu180Lys
Likely pathogenic
Single submitter
Farber lipogranulomatosis
-
ASAH1 p.Leu105Pro
Likely pathogenic
Single submitter
Farber lipogranulomatosis
-
ASAH1 p.Pro26Arg
Pathogenic
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Val198Ala
Likely pathogenic
Single submitter
Farber lipogranulomatosis
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ASAH1 p.Arg333His
Conflicting
Single submitter
Farber lipogranulomatosis
-
ASAH1 p.Asp30Asn
Conflicting
Single submitter
fetal akinesia deformation sequence 1
-
ASAH1 p.Asp331Asn
Conflicting
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Asp332His Conflicting Single submitter
-
ASAH1 p.Gly164Val
Conflicting
Single submitter
arthrogryposis multiplex congenita
-
ASAH1 p.Gly40Arg
Conflicting
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Met210Thr
Conflicting
Single submitter
Farber lipogranulomatosis
-
ASAH1 p.Thr179Ile
Conflicting
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Thr42Ala
Conflicting
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Predictors lean, ClinVar uncertain 140
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ASAH1 p.Arg226Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASAH1 p.Arg226His Uncertain significance Multiple submitters
- ASAH1 p.Arg323His Uncertain significance Multiple submitters
-
ASAH1 p.Arg44Ser
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Asn107Ser Uncertain significance Multiple submitters
- ASAH1 p.Asn82Asp Uncertain significance Multiple submitters
-
ASAH1 p.Asp30Tyr
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Cys18Ser Uncertain significance Multiple submitters
-
ASAH1 p.Glu258Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Glu352Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Gly103Ala
Uncertain significance
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Gly168Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Gly284Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.His157Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Ile240Leu
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Ile374Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Pro126Thr
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Pro26Gln Uncertain significance Multiple submitters
- ASAH1 p.Pro71Ala Uncertain significance Multiple submitters
- ASAH1 p.Ser345Gly Uncertain significance Multiple submitters
-
ASAH1 p.Ser34Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Thr186Ala
Uncertain significance
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Thr360Ile
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Thr368Ala Uncertain significance Multiple submitters
- ASAH1 p.Thr372Ala Uncertain significance Multiple submitters
-
ASAH1 p.Tyr43His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASAH1 p.Val88Leu Uncertain significance Multiple submitters
- ASAH1 p.Ala14Val Uncertain significance Single submitter
- ASAH1 p.Ala201Ser Uncertain significance Single submitter
-
ASAH1 p.Ala205Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Ala279Pro Uncertain significance Single submitter
- ASAH1 p.Ala46Val Uncertain significance Single submitter
- ASAH1 p.Arg226Leu Uncertain significance Single submitter
- ASAH1 p.Arg296Gly Uncertain significance Single submitter
- ASAH1 p.Arg32Ile Uncertain significance Single submitter
-
ASAH1 p.Arg32Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Arg386Trp Uncertain significance Single submitter
- ASAH1 p.Arg61Lys Uncertain significance Single submitter
- ASAH1 p.Asn107His Uncertain significance Single submitter
- ASAH1 p.Asn194Lys Uncertain significance Single submitter
- ASAH1 p.Asn224Tyr Uncertain significance Single submitter
- ASAH1 p.Asn365Ile Uncertain significance Single submitter
- ASAH1 p.Asp174Gly Uncertain significance Single submitter
- ASAH1 p.Asp297Gly Uncertain significance Single submitter
- ASAH1 p.Asp308Asn Uncertain significance Single submitter
- ASAH1 p.Asp322Val Uncertain significance Single submitter
- ASAH1 p.Asp387Asn Uncertain significance Single submitter
- ASAH1 p.Asp55His Uncertain significance Single submitter
-
ASAH1 p.Cys388Tyr
Uncertain significance
Single submitter
ASAH1-related sphingolipidosis
- ASAH1 p.Cys6Trp Uncertain significance Single submitter
-
ASAH1 p.Gln22His
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Gln318Leu Uncertain significance Single submitter
- ASAH1 p.Gln380His Uncertain significance Single submitter
- ASAH1 p.Glu114Asp Uncertain significance Single submitter
- ASAH1 p.Gly103Asp Uncertain significance Single submitter
- ASAH1 p.Gly110Asp Uncertain significance Single submitter
- ASAH1 p.Gly118Asp Uncertain significance Single submitter
-
ASAH1 p.Gly118Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Gly128Arg Uncertain significance Single submitter
- ASAH1 p.Gly206Asp Uncertain significance Single submitter
-
ASAH1 p.Gly209Asp
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Gly213Arg Uncertain significance Single submitter
-
ASAH1 p.Gly231Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASAH1 p.Gly250Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Gly291Val Uncertain significance Single submitter
- ASAH1 p.Gly3Ala Uncertain significance Single submitter
- ASAH1 p.Gly3Val Uncertain significance Single submitter
- ASAH1 p.His154Arg Uncertain significance Single submitter
- ASAH1 p.His154Gln Uncertain significance Single submitter
- ASAH1 p.His157Arg Uncertain significance Single submitter
-
ASAH1 p.His23Asp
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.His23Gln Uncertain significance Single submitter
- ASAH1 p.His23Leu Uncertain significance Single submitter
- ASAH1 p.His63Tyr Uncertain significance Single submitter
- ASAH1 p.Ile125Thr Uncertain significance Single submitter
- ASAH1 p.Ile142Phe Uncertain significance Single submitter
- ASAH1 p.Ile142Val Uncertain significance Single submitter
- ASAH1 p.Ile156Val Uncertain significance Single submitter
- ASAH1 p.Ile178Leu Uncertain significance Single submitter
- ASAH1 p.Ile249Thr Uncertain significance Single submitter
- ASAH1 p.Ile393Arg Uncertain significance Single submitter
- ASAH1 p.Ile52Val Uncertain significance Single submitter
- ASAH1 p.Leu211Val Uncertain significance Single submitter
- ASAH1 p.Leu221Pro Uncertain significance Single submitter
- ASAH1 p.Leu330Phe Uncertain significance Single submitter
-
ASAH1 p.Leu364Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASAH1 p.Leu385Pro
Uncertain significance
Single submitter
keloid formation
- ASAH1 p.Leu54Phe Uncertain significance Single submitter
- ASAH1 p.Leu65Trp Uncertain significance Single submitter
- ASAH1 p.Lys100Ile Uncertain significance Single submitter
- ASAH1 p.Lys183Glu Uncertain significance Single submitter
- ASAH1 p.Lys272Asn Uncertain significance Single submitter
- ASAH1 p.Lys274Arg Uncertain significance Single submitter
- ASAH1 p.Lys60Arg Uncertain significance Single submitter
- ASAH1 p.Met161Thr Uncertain significance Single submitter
- ASAH1 p.Met339Lys Uncertain significance Single submitter
- ASAH1 p.Met354Ile Uncertain significance Single submitter
- ASAH1 p.Met83Lys Uncertain significance Single submitter
- ASAH1 p.Met94Thr Uncertain significance Single submitter
- ASAH1 p.Phe140Ile Uncertain significance Single submitter
- ASAH1 p.Pro126Ser Uncertain significance Single submitter
- ASAH1 p.Pro25Gln Uncertain significance Single submitter
- ASAH1 p.Pro25Leu Uncertain significance Single submitter
-
ASAH1 p.Pro26Leu
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Pro278Gln Uncertain significance Single submitter
- ASAH1 p.Pro2Ala Uncertain significance Single submitter
- ASAH1 p.Pro2Arg Uncertain significance Single submitter
- ASAH1 p.Pro2Ser Uncertain significance Single submitter
- ASAH1 p.Pro362Leu Uncertain significance Single submitter
- ASAH1 p.Pro41Ser Uncertain significance Single submitter
- ASAH1 p.Pro58Ala Uncertain significance Single submitter
- ASAH1 p.Pro58Leu Uncertain significance Single submitter
- ASAH1 p.Ser17Thr Uncertain significance Single submitter
- ASAH1 p.Ser262Arg Uncertain significance Single submitter
- ASAH1 p.Ser345Arg Uncertain significance Single submitter
- ASAH1 p.Ser79Thr Uncertain significance Single submitter
- ASAH1 p.Thr141Ala Uncertain significance Single submitter
- ASAH1 p.Thr222Ile Uncertain significance Single submitter
- ASAH1 p.Thr253Ser Uncertain significance Single submitter
-
ASAH1 p.Thr28Ile
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Thr295Ile Uncertain significance Single submitter
-
ASAH1 p.Thr360Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Thr86Ile Uncertain significance Single submitter
- ASAH1 p.Trp314Arg Uncertain significance Single submitter
-
ASAH1 p.Trp395Cys
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Tyr137Asn Uncertain significance Single submitter
- ASAH1 p.Tyr355Cys Uncertain significance Single submitter
-
ASAH1 p.Tyr43Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Val10Ala Uncertain significance Single submitter
- ASAH1 p.Val122Ala Uncertain significance Single submitter
- ASAH1 p.Val165Ala Uncertain significance Single submitter
- ASAH1 p.Val16Leu Uncertain significance Single submitter
- ASAH1 p.Val177Ile Uncertain significance Single submitter
- ASAH1 p.Val198Leu Uncertain significance Single submitter
- ASAH1 p.Val256Ile Uncertain significance Single submitter
- ASAH1 p.Val363Gly Uncertain significance Single submitter
- ASAH1 p.Val376Ile Uncertain significance Single submitter
- ASAH1 p.Val77Leu Uncertain significance Single submitter
- ASAH1 p.Val77Met Uncertain significance Single submitter
- ASAH1 p.Val97Leu Uncertain significance Single submitter
Predictors split 154
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 154
-
ASAH1 p.Ala121Thr
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Arg323Cys
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Arg32Ser Uncertain significance Multiple submitters
-
ASAH1 p.Arg343His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Asp390Gly
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Gln346Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASAH1 p.Gln95Pro Uncertain significance Multiple submitters
-
ASAH1 p.Glu300Lys
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Glu382Lys
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Ile130Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Ile146Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Leu283Val
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Lys215Ile Uncertain significance Multiple submitters
- ASAH1 p.Lys310Gln Likely benign Multiple submitters
-
ASAH1 p.Lys378Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Phe108Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASAH1 p.Pro109His Uncertain significance Multiple submitters
-
ASAH1 p.Pro336Ala
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Pro48Ser Uncertain significance Multiple submitters
-
ASAH1 p.Pro89Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Ser228Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASAH1 p.Ser262Cys
Uncertain significance
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Tyr207Phe
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Tyr36Cys
Pathogenic/Likely pathogenic
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Val187Met
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Val198Ile
Uncertain significance
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- ASAH1 p.Val208Met Uncertain significance Multiple submitters
-
ASAH1 p.Val304Leu
Likely benign
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Val72Met
Benign
Multiple submitters
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
-
ASAH1 p.Val88Met
Uncertain significance
Multiple submitters
Farber lipogranulomatosis
-
ASAH1 p.Val97Gly
Likely pathogenic
Multiple submitters
Farber lipogranulomatosis
- ASAH1 p.Ala120Val Uncertain significance Single submitter
- ASAH1 p.Ala14Thr Uncertain significance Single submitter
- ASAH1 p.Ala19Val Uncertain significance Single submitter
- ASAH1 p.Ala21Val Uncertain significance Single submitter
- ASAH1 p.Ala277Thr Uncertain significance Single submitter
- ASAH1 p.Ala337Val Uncertain significance Single submitter
- ASAH1 p.Ala70Val Uncertain significance Single submitter
- ASAH1 p.Ala8Gly Uncertain significance Single submitter
- ASAH1 p.Arg323Gly Uncertain significance Single submitter
- ASAH1 p.Arg323Leu Uncertain significance Single submitter
- ASAH1 p.Arg343Cys Uncertain significance Single submitter
- ASAH1 p.Arg343Ser Uncertain significance Single submitter
-
ASAH1 p.Arg386Gln
Likely pathogenic
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- ASAH1 p.Arg4Gly Uncertain significance Single submitter
-
ASAH1 p.Arg4Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Asn134Ser Uncertain significance Single submitter
- ASAH1 p.Asn173Asp Uncertain significance Single submitter
-
ASAH1 p.Asn173Ile
Pathogenic
Single submitter
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- ASAH1 p.Asn286Ser Uncertain significance Single submitter
- ASAH1 p.Asn342Asp Uncertain significance Single submitter
- ASAH1 p.Asn348Ser Uncertain significance Single submitter
- ASAH1 p.Asn365Ser Uncertain significance Single submitter
- ASAH1 p.Asn53Ser Uncertain significance Single submitter
- ASAH1 p.Asp124Ala Uncertain significance Single submitter
- ASAH1 p.Asp332Asn Uncertain significance Single submitter
- ASAH1 p.Asp68His Uncertain significance Single submitter
-
ASAH1 p.Cys31Phe
Likely pathogenic
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Glu114Lys Uncertain significance Single submitter
-
ASAH1 p.Glu129Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Glu149Gly Uncertain significance Single submitter
-
ASAH1 p.Glu238Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Glu265Lys Uncertain significance Single submitter
- ASAH1 p.Glu306Asp Uncertain significance Single submitter
- ASAH1 p.Glu99Asp Uncertain significance Single submitter
-
ASAH1 p.Gly153Arg
Likely pathogenic
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Gly217Glu Uncertain significance Single submitter
- ASAH1 p.Gly250Ala Uncertain significance Single submitter
- ASAH1 p.His154Tyr Uncertain significance Single submitter
- ASAH1 p.Ile125Arg Uncertain significance Single submitter
-
ASAH1 p.Ile146Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Ile146Thr Uncertain significance Single submitter
- ASAH1 p.Ile229Thr Uncertain significance Single submitter
- ASAH1 p.Ile240Ser Uncertain significance Single submitter
-
ASAH1 p.Ile275Val
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Ile294Met Uncertain significance Single submitter
- ASAH1 p.Leu11Arg Uncertain significance Single submitter
- ASAH1 p.Leu155Val Uncertain significance Single submitter
- ASAH1 p.Leu218Pro Uncertain significance Single submitter
- ASAH1 p.Leu221Val Uncertain significance Single submitter
- ASAH1 p.Leu223Met Uncertain significance Single submitter
- ASAH1 p.Leu223Val Uncertain significance Single submitter
- ASAH1 p.Leu241Val Uncertain significance Single submitter
- ASAH1 p.Leu269Ser Uncertain significance Single submitter
- ASAH1 p.Leu276Val Uncertain significance Single submitter
- ASAH1 p.Leu341Val Uncertain significance Single submitter
- ASAH1 p.Leu373Val Uncertain significance Single submitter
-
ASAH1 p.Leu9Phe
Conflicting
Single submitter
Inborn genetic diseases
- ASAH1 p.Lys100Asn Uncertain significance Single submitter
-
ASAH1 p.Lys117Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Lys151Arg Uncertain significance Single submitter
-
ASAH1 p.Lys196Arg
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Lys243Met Uncertain significance Single submitter
- ASAH1 p.Lys244Asn Uncertain significance Single submitter
- ASAH1 p.Lys267Glu Uncertain significance Single submitter
- ASAH1 p.Lys267Thr Uncertain significance Single submitter
- ASAH1 p.Lys325Gln Uncertain significance Single submitter
- ASAH1 p.Lys69Arg Uncertain significance Single submitter
- ASAH1 p.Lys92Arg Uncertain significance Single submitter
- ASAH1 p.Met354Thr Uncertain significance Single submitter
- ASAH1 p.Phe108Tyr Uncertain significance Single submitter
- ASAH1 p.Phe108Val Uncertain significance Single submitter
-
ASAH1 p.Phe136Leu
Likely pathogenic
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Phe214Leu Uncertain significance Single submitter
- ASAH1 p.Phe251Leu Uncertain significance Single submitter
-
ASAH1 p.Phe329Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Phe381Ser Uncertain significance Single submitter
- ASAH1 p.Pro102Ser Uncertain significance Single submitter
-
ASAH1 p.Pro102Thr
Uncertain significance
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Pro109Leu Uncertain significance Single submitter
- ASAH1 p.Pro126Arg Uncertain significance Single submitter
- ASAH1 p.Pro184Arg Uncertain significance Single submitter
- ASAH1 p.Pro184His Uncertain significance Single submitter
- ASAH1 p.Pro184Leu Uncertain significance Single submitter
- ASAH1 p.Pro184Ser Uncertain significance Single submitter
-
ASAH1 p.Pro216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Pro336His Uncertain significance Single submitter
-
ASAH1 p.Pro37Thr
Likely pathogenic
Single submitter
congenital nervous system disorder
- ASAH1 p.Pro389Arg Uncertain significance Single submitter
- ASAH1 p.Pro57Leu Uncertain significance Single submitter
- ASAH1 p.Pro89Ala Uncertain significance Single submitter
- ASAH1 p.Pro89Ser Uncertain significance Single submitter
- ASAH1 p.Ser17Asn Uncertain significance Single submitter
- ASAH1 p.Ser220Gly Uncertain significance Single submitter
- ASAH1 p.Ser228Gly Uncertain significance Single submitter
- ASAH1 p.Ser260Gly Uncertain significance Single submitter
- ASAH1 p.Ser288Cys Uncertain significance Single submitter
- ASAH1 p.Ser301Leu Uncertain significance Single submitter
- ASAH1 p.Ser345Asn Uncertain significance Single submitter
-
ASAH1 p.Ser5Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Ser90Gly Uncertain significance Single submitter
- ASAH1 p.Thr175Ala Uncertain significance Single submitter
-
ASAH1 p.Thr261Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Thr261Pro Uncertain significance Single submitter
- ASAH1 p.Thr273Ile Uncertain significance Single submitter
- ASAH1 p.Thr273Ser Uncertain significance Single submitter
- ASAH1 p.Thr335Arg Uncertain significance Single submitter
-
ASAH1 p.Thr335Met
Conflicting
Single submitter
Farber lipogranulomatosis
- ASAH1 p.Thr344Ala Uncertain significance Single submitter
- ASAH1 p.Thr344Ile Uncertain significance Single submitter
- ASAH1 p.Thr344Pro Benign Single submitter
-
ASAH1 p.Thr344Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Thr360Ala Uncertain significance Single submitter
- ASAH1 p.Thr51Ile Uncertain significance Single submitter
- ASAH1 p.Thr51Ser Uncertain significance Single submitter
- ASAH1 p.Tyr233His Uncertain significance Single submitter
-
ASAH1 p.Tyr315Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASAH1 p.Val10Ile Uncertain significance Single submitter
- ASAH1 p.Val316Ala Uncertain significance Single submitter
-
ASAH1 p.Val317Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All ASAH1 variants
Pathogenic 57
- c.125+1G>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Arg254Gly Multiple submitters Farber lipogranulomatosis
- p.Arg296Ter Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Lys152Asn Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Phe136_Tyr137insTer Multiple submitters Farber lipogranulomatosis
- p.Tyr59fs Multiple submitters Farber lipogranulomatosis
- p.Tyr59Ter Multiple submitters Farber lipogranulomatosis
- c.125+1G>T Single submitter
- c.383-10_383-6del Single submitter Farber lipogranulomatosis
- c.918-2A>G Single submitter
- p.Ala21fs Single submitter
- p.Ala70fs Single submitter
- p.Asn173Ile Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Asn348fs Single submitter
- p.Asp162fs Single submitter
- p.Asp297fs Single submitter
- p.Asp322fs Single submitter
- p.Cys18fs Single submitter
- p.Gln22Ter Single submitter
- p.Gln311Ter Single submitter
- p.Gln318Ter Single submitter
- p.Gln95Ter Single submitter
- p.Glu114Ter Single submitter
- p.Glu129fs Single submitter
- p.Glu300Ter Single submitter Farber lipogranulomatosis
- p.Gly153fs Single submitter
- p.Gly168Trp Single submitter Farber lipogranulomatosis
- p.Gly235Arg Single submitter Farber lipogranulomatosis
- p.Leu221_Thr222insTer Single submitter
- p.Leu358fs Single submitter
- p.Leu9fs Single submitter
- p.Lys152fs Single submitter
- p.Met116fs Single submitter
- p.Met1Arg Single submitter
- p.Met1Val Single submitter
- p.Phe199_Lys200insAsnPhe Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Pro26Arg Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Ser202Ter Single submitter
- p.Ser350fs Single submitter
- p.Thr86fs Single submitter Farber lipogranulomatosis
- p.Trp176Ter Single submitter
- p.Trp248Ter Single submitter
- p.Trp27Ter Single submitter Farber lipogranulomatosis
- p.Tyr137fs Single submitter
- p.Tyr207Ter Single submitter
- p.Val75fs Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Val77fs Single submitter
- p.Val97del Single submitter Farber lipogranulomatosis
- p.Val97Glu Single submitter Farber lipogranulomatosis
- c.125+211_383-1330del No assertion criteria Farber lipogranulomatosis
- c.917+4A>G No assertion criteria Farber lipogranulomatosis
- p.Ala120Pro No assertion criteria Farber lipogranulomatosis
- p.Asn320Asp No assertion criteria Farber lipogranulomatosis
- p.Cys143Gly No assertion criteria Farber lipogranulomatosis
- p.Gly284Ter No assertion criteria spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Leu182Val No assertion criteria Farber lipogranulomatosis ⚠
- p.Thr222Lys No assertion criteria Farber lipogranulomatosis
Pathogenic/Likely pathogenic 13
- c.1098+1G>T Multiple submitters Farber lipogranulomatosis
- c.457+4A>G Multiple submitters Farber lipogranulomatosis
- p.Arg333Cys Multiple submitters Farber lipogranulomatosis
- p.Arg333Gly Multiple submitters Farber lipogranulomatosis
- p.Glu138Ter Multiple submitters Farber lipogranulomatosis
- p.Met1Ile Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Pro362Arg Multiple submitters Farber lipogranulomatosis
- p.Thr42Met Multiple submitters ASAH1-related disorders ⚠
- p.Trp169Arg Multiple submitters Farber lipogranulomatosis
- p.Trp49Ter Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Trp62Ter Multiple submitters Farber lipogranulomatosis
- p.Tyr137Cys Multiple submitters ASAH1-related disorders
- p.Tyr36Cys Multiple submitters Farber lipogranulomatosis ⚠
Likely pathogenic 50
- c.648+1G>C Multiple submitters Farber lipogranulomatosis
- p.Asn320Ser Multiple submitters Farber lipogranulomatosis
- p.Glu138Val Multiple submitters Farber lipogranulomatosis
- p.Gly235Asp Multiple submitters
- p.Lys366Gln Multiple submitters Farber lipogranulomatosis
- p.Val97Gly Multiple submitters Farber lipogranulomatosis ⚠
- c.1041+1G>T Single submitter
- c.1042-2A>C Single submitter Farber lipogranulomatosis
- c.1042-4_1042-1delinsAAAACAC Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.121_125+19del Single submitter Farber lipogranulomatosis
- c.216+1G>A Single submitter
- c.216+2T>C Single submitter
- c.217-2A>G Single submitter
- c.304-1G>A Single submitter
- c.383-1G>C Single submitter
- c.457_457+4del Single submitter
- c.457+1G>A Single submitter
- c.458-1G>A Single submitter
- c.458-2A>C Single submitter
- c.648+1G>A Single submitter
- c.649-2_649-1del Single submitter
- c.649-2A>T Single submitter
- c.703+1G>A Single submitter
- c.704-2A>G Single submitter Farber lipogranulomatosis
- c.785+1G>A Single submitter
- c.785+2T>C Single submitter
- c.786-1G>C Single submitter
- c.786-1G>T Single submitter Farber lipogranulomatosis
- c.786-2A>G Single submitter
- c.917+2T>G Single submitter
- c.917+5G>A Single submitter Farber lipogranulomatosis
- p.Arg226Pro Single submitter Farber lipogranulomatosis
- p.Arg32Ter Single submitter Farber lipogranulomatosis
- p.Arg386Gln Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Cys31Phe Single submitter Farber lipogranulomatosis ⚠
- p.Cys392Tyr Single submitter Farber lipogranulomatosis
- p.Glu138Gly Single submitter Farber lipogranulomatosis
- p.Glu180Lys Single submitter Farber lipogranulomatosis ⚠
- p.Gly153Arg Single submitter Farber lipogranulomatosis ⚠
- p.Gly235Val Single submitter Farber lipogranulomatosis
- p.Leu105Pro Single submitter Farber lipogranulomatosis ⚠
- p.Leu257Pro Single submitter Farber lipogranulomatosis
- p.Leu283fs Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Phe136Leu Single submitter Farber lipogranulomatosis ⚠
- p.Pro126fs Single submitter Farber lipogranulomatosis
- p.Pro278Leu Single submitter Farber lipogranulomatosis
- p.Pro362Thr Single submitter Farber lipogranulomatosis
- p.Pro37Thr Single submitter congenital nervous system disorder ⚠
- p.Thr353_Met354insTer Single submitter
- p.Val198Ala Single submitter Farber lipogranulomatosis ⚠
Conflicting classifications of pathogenicity 27
- c.126-7A>G Single submitter
- c.216+6C>G Single submitter
- c.382+10A>G Single submitter Farber lipogranulomatosis
- c.382+9C>G Single submitter Farber lipogranulomatosis
- c.457+7G>A Single submitter Farber lipogranulomatosis
- c.504-4A>G Single submitter Inborn genetic diseases
- c.648+5G>C Single submitter Farber lipogranulomatosis
- c.-6A>G Single submitter Farber lipogranulomatosis
- p.Arg12Pro Single submitter ASAH1-related sphingolipidosis
- p.Arg333His Single submitter Farber lipogranulomatosis ⚠
- p.Arg61= Single submitter Farber lipogranulomatosis
- p.Asp30Asn Single submitter fetal akinesia deformation sequence 1 ⚠
- p.Asp331Asn Single submitter Farber lipogranulomatosis ⚠
- p.Asp332His Single submitter ⚠
- p.Gly164Val Single submitter arthrogryposis multiplex congenita ⚠
- p.Gly40Arg Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Leu257= Single submitter Farber lipogranulomatosis
- p.Leu385= Single submitter Farber lipogranulomatosis
- p.Leu73= Single submitter
- p.Leu9Phe Single submitter Inborn genetic diseases ⚠
- p.Met210Thr Single submitter Farber lipogranulomatosis ⚠
- p.Phe87= Single submitter Farber lipogranulomatosis
- p.Ser36fs Single submitter
- p.Thr179Ile Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Thr335Met Single submitter Farber lipogranulomatosis ⚠
- p.Thr42Ala Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Val369= Single submitter Farber lipogranulomatosis
Benign 107
- c.1041+98C>T Multiple submitters
- c.1042-153G>A Multiple submitters
- c.1098+120T>G Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.126-100C>T Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.126-1706T>G Multiple submitters
- c.126-1828C>T Multiple submitters
- c.126-1835G>T Multiple submitters
- c.126-1873G>A Multiple submitters Farber lipogranulomatosis
- c.126-21A>G Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.126+146G>A Multiple submitters
- c.126+264C>G Multiple submitters
- c.126+51T>C Multiple submitters
- c.216+46TATTT[3] Multiple submitters Farber lipogranulomatosis
- c.216+73G>T Multiple submitters
- c.216+98C>T Multiple submitters
- c.217-76A>T Multiple submitters
- c.303+117T>C Multiple submitters Farber lipogranulomatosis
- c.303+169T>C Multiple submitters
- c.303+21C>A Multiple submitters Farber lipogranulomatosis
- c.303+53T>G Multiple submitters Farber lipogranulomatosis
- c.303+7G>A Multiple submitters Farber lipogranulomatosis
- c.304-42G>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.382+149C>T Multiple submitters
- c.382+59A>G Multiple submitters
- c.382+84C>A Multiple submitters Farber lipogranulomatosis
- c.382+87_382+116del Multiple submitters
- c.383-114C>T Multiple submitters
- c.457+156C>G Multiple submitters
- c.457+45A>G Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.458-201C>T Multiple submitters
- c.458-41T>C Multiple submitters
- c.458-44A>G Multiple submitters
- c.458-68T>C Multiple submitters Farber lipogranulomatosis
- c.458-81T>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.503+127G>A Multiple submitters Farber lipogranulomatosis
- c.503+71G>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.649-221T>G Multiple submitters
- c.649-8T>C Multiple submitters Farber lipogranulomatosis
- c.704-19T>C Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.704-64G>A Multiple submitters
- c.78+75G>A Multiple submitters
- c.79-149A>G Multiple submitters
- c.79-3C>T Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.79-50G>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.918-36T>G Multiple submitters
- c.-22T>C Multiple submitters
- c.*1073C>T Multiple submitters Farber lipogranulomatosis
- c.*1103C>T Multiple submitters Farber lipogranulomatosis
- c.*124T>A Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.*160T>C Multiple submitters Farber lipogranulomatosis
- c.*184T>A Multiple submitters Farber lipogranulomatosis
- c.*244C>T Multiple submitters Farber lipogranulomatosis
- c.*334G>A Multiple submitters Farber lipogranulomatosis
- c.*687C>G Multiple submitters Farber lipogranulomatosis
- c.*695C>T Multiple submitters Farber lipogranulomatosis
- c.*729T>C Multiple submitters Farber lipogranulomatosis
- c.*738C>G Multiple submitters Farber lipogranulomatosis
- c.*926A>C Multiple submitters Farber lipogranulomatosis
- c.*932C>T Multiple submitters Farber lipogranulomatosis
- p.Asp124Glu Multiple submitters Farber lipogranulomatosis
- p.Ile93Val Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Ser36Asn Multiple submitters
- p.Val246Ala Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- p.Val369Ile Multiple submitters Farber lipogranulomatosis
- p.Val72Met Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- c.1042-199del Single submitter
- c.1099-122_1099-121insAC Single submitter
- c.1099-167A>G Single submitter
- c.1099-209T>C Single submitter
- c.1099-283G>A Single submitter
- c.125+1933G>A Single submitter
- c.125+1959G>A Single submitter
- c.125+2051T>C Single submitter
- c.125+272T>G Single submitter
- c.125+313A>G Single submitter
- c.126-1600G>A Single submitter
- c.126-215C>A Single submitter
- c.126+164A>G Single submitter
- c.216+120G>C Single submitter
- c.216+137A>G Single submitter
- c.216+183T>C Single submitter
- c.216+79dup Single submitter
- c.217-129T>C Single submitter
- c.217-247A>G Single submitter
- c.217-288dup Single submitter
- c.303+219A>G Single submitter
- c.303+240C>A Single submitter
- c.382+91_382+119dup Single submitter
- c.383-80_383-73del Single submitter
- c.457+293C>A Single submitter
- c.458-255dup Single submitter
- c.458-256_458-255insCA Single submitter
- c.504-145A>T Single submitter
- c.648+220C>T Single submitter
- c.78+253G>C Single submitter
- c.78+301C>G Single submitter
- c.785+118G>A Single submitter
- c.785+143A>G Single submitter
- c.785+160C>T Single submitter
- c.786-134G>A Single submitter
- c.786-216G>T Single submitter
- c.786-241_786-240del Single submitter
- c.786-241A>G Single submitter
- c.*171del Single submitter
- c.*177del Single submitter
- c.*926A>T Single submitter Farber lipogranulomatosis
- p.Thr344Pro Single submitter ⚠
Benign/Likely benign 9
- c.1041+19C>A Multiple submitters Farber lipogranulomatosis
- c.126+380C>T Multiple submitters
- c.126+391T>G Multiple submitters
- c.216+46_216+47insTTA Multiple submitters
- c.382+119_382+120insATACAGCACAGGTGCTGTATGTCTTAGATATACAGCACAGGTGCTGTATGTCTTAGAT Multiple submitters
- c.648+20A>C Multiple submitters
- c.*200C>T Multiple submitters Farber lipogranulomatosis
- p.Gly250= Multiple submitters
- p.Thr222= Multiple submitters Farber lipogranulomatosis
Likely benign 366
Showing the top 300 by review status; the full set is in the sitemap.
- c.1099-58A>G Multiple submitters
- c.126+375A>C Multiple submitters
- c.303+88G>A Multiple submitters
- c.304-59A>G Multiple submitters
- c.457+108G>A Multiple submitters
- c.457+93C>G Multiple submitters
- c.648+20A>G Multiple submitters
- c.704-31C>T Multiple submitters
- c.78+22C>T Multiple submitters
- c.785+13G>A Multiple submitters
- c.-38C>T Multiple submitters Farber lipogranulomatosis
- c.-40C>T Multiple submitters Farber lipogranulomatosis
- c.*356C>G Multiple submitters Farber lipogranulomatosis
- p.Gly110Ser Multiple submitters
- p.Gly13Glu Multiple submitters
- p.Gly153= Multiple submitters
- p.Gly379= Multiple submitters
- p.Leu12= Multiple submitters
- p.Leu127= Multiple submitters
- p.Leu241= Multiple submitters
- p.Lys310Gln Multiple submitters ⚠
- p.Ser202= Multiple submitters
- p.Ser301= Multiple submitters
- p.Thr335= Multiple submitters
- p.Val304Leu Multiple submitters Farber lipogranulomatosis ⚠
- c.1041+11A>G Single submitter
- c.1041+133G>A Single submitter
- c.1041+13G>C Single submitter
- c.1041+13G>T Single submitter
- c.1041+14G>T Single submitter
- c.1041+15T>A Single submitter
- c.1041+18T>C Single submitter
- c.1041+20_1041+21delinsAG Single submitter
- c.1042-10T>C Single submitter
- c.1042-17A>C Single submitter
- c.1042-17A>G Single submitter
- c.1042-18T>A Single submitter
- c.1042-18T>C Single submitter
- c.1042-20A>T Single submitter
- c.1042-4T>A Single submitter
- c.1042-9G>A Single submitter
- c.1098+11T>C Single submitter
- c.1098+11T>G Single submitter
- c.1098+15A>G Single submitter
- c.1098+16del Single submitter
- c.1098+16T>C Single submitter
- c.1098+17A>G Single submitter
- c.1098+18T>C Single submitter
- c.1098+18T>G Single submitter
- c.1098+19G>A Single submitter
- c.1098+19G>T Single submitter
- c.1098+36G>A Single submitter
- c.1098+7T>G Single submitter
- c.1098+8A>G Single submitter
- c.1099-11T>G Single submitter
- c.1099-12C>T Single submitter
- c.1099-14A>G Single submitter
- c.1099-15T>C Single submitter
- c.1099-17A>C Single submitter
- c.1099-17A>G Single submitter
- c.1099-18A>G Single submitter
- c.1099-20A>G Single submitter
- c.1099-7C>T Single submitter
- c.125+10C>G Single submitter
- c.125+10C>T Single submitter
- c.125+11A>G Single submitter
- c.125+11A>T Single submitter
- c.125+14A>C Single submitter
- c.125+17T>A Single submitter
- c.125+19A>T Single submitter
- c.125+20T>C Single submitter
- c.126-10C>G Single submitter
- c.126-10C>T Single submitter
- c.126-12C>G Single submitter
- c.126-12C>T Single submitter
- c.126-13C>T Single submitter
- c.126-14A>C Single submitter
- c.126-14A>G Single submitter
- c.126-15C>T Single submitter
- c.126-16A>C Single submitter
- c.126-18A>G Single submitter
- c.126-18A>T Single submitter
- c.126-19G>A Single submitter
- c.126-6T>C Single submitter
- c.126+117G>C Single submitter
- c.126+517G>A Single submitter
- c.216+12T>C Single submitter
- c.216+13G>A Single submitter
- c.216+13G>C Single submitter
- c.216+14C>A Single submitter
- c.216+18A>C Single submitter
- c.216+18A>T Single submitter
- c.216+20T>C Single submitter
- c.216+8A>G Single submitter
- c.217-10T>A Single submitter
- c.217-10T>G Single submitter
- c.217-13A>G Single submitter
- c.217-13del Single submitter
- c.217-15T>A Single submitter
- c.217-18A>G Single submitter
- c.217-222G>A Single submitter
- c.217-278_217-277insG Single submitter
- c.217-297C>T Single submitter
- c.217-9_217-6del Single submitter
- c.303+11T>C Single submitter
- c.303+18T>C Single submitter
- c.303+7G>T Single submitter
- c.304-13A>G Single submitter
- c.304-19T>G Single submitter
- c.304-277A>G Single submitter
- c.304-4C>G Single submitter
- c.304-9G>T Single submitter
- c.382+10A>T Single submitter
- c.382+11C>G Single submitter
- c.382+13T>C Single submitter
- c.382+14A>G Single submitter
- c.382+16A>T Single submitter
- c.382+18G>A Single submitter
- c.382+9C>T Single submitter
- c.383-121A>G Single submitter
- c.383-14T>G Single submitter
- c.383-18A>T Single submitter
- c.383-19A>G Single submitter
- c.383-213G>A Single submitter
- c.383-247G>A Single submitter
- c.383-288C>G Single submitter
- c.383-4A>G Single submitter
- c.383-5C>T Single submitter
- c.383-67C>T Single submitter
- c.457+10C>T Single submitter
- c.457+11G>A Single submitter
- c.457+138T>C Single submitter
- c.457+17G>A Single submitter
- c.457+17G>T Single submitter
- c.457+20G>T Single submitter
- c.457+7G>C Single submitter
- c.457+9G>A Single submitter
- c.458-11C>T Single submitter
- c.458-12A>C Single submitter
- c.458-12A>G Single submitter
- c.458-15T>A Single submitter
- c.458-17T>C Single submitter
- c.458-18C>A Single submitter
- c.458-18C>T Single submitter
- c.458-255_458-253dup Single submitter
- c.458-255_458-254dup Single submitter
- c.458-5A>C Single submitter
- c.458-8T>A Single submitter
- c.458-8T>G Single submitter
- c.503+13C>G Single submitter
- c.503+13C>T Single submitter
- c.503+18G>C Single submitter
- c.503+19del Single submitter
- c.503+19G>A Single submitter
- c.503+210T>G Single submitter
- c.503+224G>A Single submitter
- c.503+9del Single submitter
- c.504-115T>C Single submitter
- c.504-16A>G Single submitter
- c.504-176C>G Single submitter
- c.504-17A>T Single submitter
- c.504-9C>G Single submitter
- c.648+10C>T Single submitter
- c.648+11T>C Single submitter
- c.648+12G>A Single submitter
- c.648+12G>C Single submitter
- c.648+15_648+17del Single submitter
- c.648+15G>T Single submitter
- c.648+19C>T Single submitter
- c.648+8G>A Single submitter
- c.648+9T>A Single submitter
- c.649-11C>A Single submitter
- c.649-11C>G Single submitter
- c.649-13G>T Single submitter
- c.649-14del Single submitter
- c.649-18G>T Single submitter
- c.649-191C>G Single submitter
- c.649-19T>G Single submitter
- c.649-4T>C Single submitter
- c.649-5C>G Single submitter
- c.649-6T>C Single submitter
- c.649-7_649-6del Single submitter
- c.649-7T>C Single submitter
- c.703+10G>T Single submitter
- c.703+17C>G Single submitter
- c.703+17C>T Single submitter
- c.703+19A>T Single submitter
- c.704-11A>C Single submitter
- c.704-11A>G Single submitter
- c.704-15_704-14del Single submitter
- c.704-17G>A Single submitter
- c.704-19T>G Single submitter
- c.704-20A>G Single submitter
- c.704-20dup Single submitter
- c.704-4C>T Single submitter
- c.78+11T>C Single submitter
- c.78+12T>G Single submitter
- c.78+15G>C Single submitter
- c.78+16C>T Single submitter
- c.78+17C>G Single submitter
- c.78+17C>T Single submitter
- c.78+18G>T Single submitter
- c.78+7G>A Single submitter
- c.785+10_785+11del Single submitter
- c.785+10T>A Single submitter
- c.785+11T>C Single submitter
- c.785+12C>T Single submitter
- c.785+13G>T Single submitter
- c.785+19T>A Single submitter
- c.785+273C>T Single submitter
- c.785+7T>G Single submitter
- c.785+8_785+9del Single submitter
- c.785+9T>C Single submitter
- c.786-12G>A Single submitter
- c.786-12G>T Single submitter
- c.786-150C>G Single submitter
- c.786-17T>C Single submitter
- c.786-18T>A Single submitter
- c.786-20T>A Single submitter
- c.786-257C>A Single submitter
- c.786-281G>A Single submitter
- c.786-4A>G Single submitter
- c.786-6A>C Single submitter
- c.786-6A>G Single submitter
- c.786-8C>T Single submitter
- c.79-11_79-10del Single submitter
- c.79-12T>C Single submitter
- c.79-15T>A Single submitter
- c.79-16T>A Single submitter
- c.79-17T>C Single submitter
- c.79-18A>G Single submitter
- c.79-19A>C Single submitter
- c.79-19A>T Single submitter
- c.79-20T>A Single submitter
- c.79-40A>G Single submitter
- c.79-5T>C Single submitter
- c.79-6T>C Single submitter
- c.917+15T>G Single submitter
- c.917+20C>G Single submitter
- c.917+9G>T Single submitter
- c.918-13C>A Single submitter
- c.918-14C>G Single submitter
- c.918-14C>T Single submitter
- c.918-16C>A Single submitter
- c.918-16C>T Single submitter
- c.918-19T>C Single submitter
- c.918-20A>T Single submitter
- c.918-4C>G Single submitter
- c.918-4C>T Single submitter
- c.918-7T>C Single submitter
- c.918-8G>A Single submitter
- c.918-9T>C Single submitter
- c.*368C>T Single submitter Farber lipogranulomatosis
- c.*618C>T Single submitter
- p.Ala120= Single submitter
- p.Ala14= Single submitter
- p.Ala15= Single submitter
- p.Ala19= Single submitter
- p.Ala24= Single submitter
- p.Ala279= Single submitter
- p.Ala8= Single submitter
- p.Arg254= Single submitter
- p.Arg313= Single submitter
- p.Arg32= Single submitter
- p.Arg4= Single submitter
- p.Asn160= Single submitter
- p.Asn173= Single submitter
- p.Asn188= Single submitter
- p.Asn195= Single submitter
- p.Asn259= Single submitter
- p.Asn342= Single submitter
- p.Asp124= Single submitter
- p.Asp150= Single submitter
- p.Asp297= Single submitter
- p.Asp303= Single submitter
- p.Gln318= Single submitter
- p.Gln380= Single submitter
- p.Glu113= Single submitter
- p.Glu114= Single submitter
- p.Glu180= Single submitter
- p.Glu265= Single submitter
- p.Glu28Lys Single submitter
- p.Glu29= Single submitter
- p.Glu64= Single submitter
- p.Gly103= Single submitter
- p.Gly110= Single submitter
- p.Gly128= Single submitter
- p.Gly206= Single submitter
- p.Gly242= Single submitter
- p.Gly289= Single submitter
- p.Gly3= Single submitter
- p.Gly394= Single submitter
- p.Gly45= Single submitter
- p.Ile249= Single submitter
- p.Ile282= Single submitter
- p.Ile31Val Single submitter
- p.Leu104= Single submitter
- p.Leu11= Single submitter
- p.Leu182= Single submitter
- p.Leu211= Single submitter
Uncertain significance 341
Showing the top 300 by review status; the full set is in the sitemap.
- c.*103G>A Multiple submitters Farber lipogranulomatosis
- c.*171T>C Multiple submitters Farber lipogranulomatosis
- p.Ala121Thr Multiple submitters Farber lipogranulomatosis ⚠
- p.Arg226Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg226His Multiple submitters ⚠
- p.Arg323Cys Multiple submitters Farber lipogranulomatosis ⚠
- p.Arg323His Multiple submitters ⚠
- p.Arg32Ser Multiple submitters ⚠
- p.Arg343His Multiple submitters Inborn genetic diseases ⚠
- p.Arg44Ser Multiple submitters Farber lipogranulomatosis ⚠
- p.Asn107Ser Multiple submitters ⚠
- p.Asn82Asp Multiple submitters ⚠
- p.Asp30Tyr Multiple submitters Farber lipogranulomatosis ⚠
- p.Asp390Gly Multiple submitters Farber lipogranulomatosis ⚠
- p.Cys18Ser Multiple submitters ⚠
- p.Gln346Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln95Pro Multiple submitters ⚠
- p.Glu258Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu300Lys Multiple submitters Farber lipogranulomatosis ⚠
- p.Glu352Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu382Lys Multiple submitters Farber lipogranulomatosis ⚠
- p.Gly103Ala Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Gly168Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly284Glu Multiple submitters Inborn genetic diseases ⚠
- p.His157Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile130Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile146Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile240Leu Multiple submitters Farber lipogranulomatosis ⚠
- p.Ile374Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu283Val Multiple submitters Farber lipogranulomatosis ⚠
- p.Lys215Ile Multiple submitters ⚠
- p.Lys378Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe108Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro109His Multiple submitters ⚠
- p.Pro126Thr Multiple submitters Farber lipogranulomatosis ⚠
- p.Pro26Gln Multiple submitters ⚠
- p.Pro336Ala Multiple submitters Farber lipogranulomatosis ⚠
- p.Pro48Ser Multiple submitters ⚠
- p.Pro71Ala Multiple submitters ⚠
- p.Pro89Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser228Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser262Cys Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Ser345Gly Multiple submitters ⚠
- p.Ser34Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr186Ala Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Thr360Ile Multiple submitters Farber lipogranulomatosis ⚠
- p.Thr368Ala Multiple submitters ⚠
- p.Thr372Ala Multiple submitters ⚠
- p.Tyr207Phe Multiple submitters Farber lipogranulomatosis ⚠
- p.Tyr43His Multiple submitters Inborn genetic diseases ⚠
- p.Val187Met Multiple submitters Farber lipogranulomatosis ⚠
- p.Val198Ile Multiple submitters spinal muscular atrophy-progressive myoclonic epilepsy syndrome ⚠
- p.Val208Met Multiple submitters ⚠
- p.Val88Leu Multiple submitters ⚠
- p.Val88Met Multiple submitters Farber lipogranulomatosis ⚠
- c.1041+3A>G Single submitter
- c.1041+5C>T Single submitter Farber lipogranulomatosis
- c.1042-13_1042-12delinsAT Single submitter
- c.1042-3T>C Single submitter
- c.1099-1G>T Single submitter
- c.1099-2A>G Single submitter
- c.125+16A>G Single submitter
- c.126-13C>G Single submitter
- c.126-5T>C Single submitter
- c.126+514C>G Single submitter
- c.126+5G>T Single submitter Inborn genetic diseases
- c.216+3A>G Single submitter
- c.216+3A>T Single submitter
- c.383-39del Single submitter
- c.457+18G>C Single submitter
- c.457+5T>C Single submitter
- c.458-5A>G Single submitter
- c.503+4A>T Single submitter
- c.703+6T>C Single submitter
- c.703+6T>G Single submitter
- c.78+3G>T Single submitter
- c.785+4A>C Single submitter
- c.785+5dup Single submitter
- c.786-15A>G Single submitter
- c.786-3T>C Single submitter
- c.917+4A>C Single submitter
- c.-219A>T Single submitter spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- c.-23G>C Single submitter Farber lipogranulomatosis
- c.-27C>T Single submitter Farber lipogranulomatosis
- c.*136G>A Single submitter Farber lipogranulomatosis
- c.*164T>A Single submitter Farber lipogranulomatosis
- c.*176_*177del Single submitter
- c.*178A>G Single submitter Farber lipogranulomatosis
- c.*222T>A Single submitter Farber lipogranulomatosis
- c.*25G>A Single submitter Farber lipogranulomatosis
- c.*292C>G Single submitter Farber lipogranulomatosis
- c.*353C>T Single submitter Farber lipogranulomatosis
- c.*373C>T Single submitter Farber lipogranulomatosis
- c.*459T>C Single submitter Farber lipogranulomatosis
- c.*501T>C Single submitter Farber lipogranulomatosis
- c.*617T>A Single submitter Farber lipogranulomatosis
- c.*686T>C Single submitter Farber lipogranulomatosis
- c.*794A>G Single submitter Farber lipogranulomatosis
- c.*885T>C Single submitter Farber lipogranulomatosis
- c.*933T>C Single submitter Farber lipogranulomatosis
- c.*961A>G Single submitter Farber lipogranulomatosis
- c.*996C>T Single submitter Farber lipogranulomatosis
- p.Ala120Val Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala201Ser Single submitter ⚠
- p.Ala205Pro Single submitter Inborn genetic diseases ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala277Thr Single submitter ⚠
- p.Ala279Pro Single submitter ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala46Val Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg16Pro Single submitter
- p.Arg226Leu Single submitter ⚠
- p.Arg296Gly Single submitter ⚠
- p.Arg323Gly Single submitter ⚠
- p.Arg323Leu Single submitter ⚠
- p.Arg32Ile Single submitter ⚠
- p.Arg32Lys Single submitter Inborn genetic diseases ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg343Ser Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg4Trp Single submitter Inborn genetic diseases ⚠
- p.Arg61Lys Single submitter ⚠
- p.Asn107His Single submitter ⚠
- p.Asn134Ser Single submitter ⚠
- p.Asn173Asp Single submitter ⚠
- p.Asn194Lys Single submitter ⚠
- p.Asn224Tyr Single submitter ⚠
- p.Asn286Ser Single submitter ⚠
- p.Asn342Asp Single submitter ⚠
- p.Asn348Ser Single submitter ⚠
- p.Asn365Ile Single submitter ⚠
- p.Asn365Ser Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asp124Ala Single submitter ⚠
- p.Asp174Gly Single submitter ⚠
- p.Asp297Gly Single submitter ⚠
- p.Asp308Asn Single submitter ⚠
- p.Asp322Val Single submitter ⚠
- p.Asp332Asn Single submitter ⚠
- p.Asp332del Single submitter
- p.Asp387Asn Single submitter ⚠
- p.Asp55His Single submitter ⚠
- p.Asp68His Single submitter ⚠
- p.Cys388Tyr Single submitter ASAH1-related sphingolipidosis ⚠
- p.Cys6Trp Single submitter ⚠
- p.Gln22His Single submitter Farber lipogranulomatosis ⚠
- p.Gln318Leu Single submitter ⚠
- p.Gln380His Single submitter ⚠
- p.Gln380Ter Single submitter
- p.Glu114Asp Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu129Asp Single submitter Inborn genetic diseases ⚠
- p.Glu149Gly Single submitter ⚠
- p.Glu238Lys Single submitter Inborn genetic diseases ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu306Asp Single submitter ⚠
- p.Glu99Asp Single submitter ⚠
- p.Gly103Asp Single submitter ⚠
- p.Gly110Asp Single submitter ⚠
- p.Gly118Asp Single submitter ⚠
- p.Gly118Val Single submitter Inborn genetic diseases ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly158= Single submitter
- p.Gly206Asp Single submitter ⚠
- p.Gly209Asp Single submitter Farber lipogranulomatosis ⚠
- p.Gly213Arg Single submitter ⚠
- p.Gly217Glu Single submitter ⚠
- p.Gly231Arg Single submitter Inborn genetic diseases ⚠
- p.Gly250Ala Single submitter ⚠
- p.Gly250Val Single submitter Inborn genetic diseases ⚠
- p.Gly291Val Single submitter ⚠
- p.Gly3Ala Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.His154Arg Single submitter ⚠
- p.His154Gln Single submitter ⚠
- p.His154Tyr Single submitter ⚠
- p.His157Arg Single submitter ⚠
- p.His23Asp Single submitter Farber lipogranulomatosis ⚠
- p.His23Gln Single submitter ⚠
- p.His23Leu Single submitter ⚠
- p.His63Tyr Single submitter ⚠
- p.Ile125Arg Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Ile142Phe Single submitter ⚠
- p.Ile142Val Single submitter ⚠
- p.Ile146Leu Single submitter Inborn genetic diseases ⚠
- p.Ile146Thr Single submitter ⚠
- p.Ile156Val Single submitter ⚠
- p.Ile178Leu Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile240Ser Single submitter ⚠
- p.Ile249Thr Single submitter ⚠
- p.Ile275Val Single submitter Farber lipogranulomatosis ⚠
- p.Ile294Met Single submitter ⚠
- p.Ile393Arg Single submitter ⚠
- p.Ile52Val Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Leu12del Single submitter
- p.Leu155Val Single submitter ⚠
- p.Leu211Val Single submitter ⚠
- p.Leu218Pro Single submitter ⚠
- p.Leu221Pro Single submitter ⚠
- p.Leu221Val Single submitter ⚠
- p.Leu223Met Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Leu241Val Single submitter ⚠
- p.Leu269Ser Single submitter ⚠
- p.Leu276Val Single submitter ⚠
- p.Leu330Phe Single submitter ⚠
- p.Leu341Val Single submitter ⚠
- p.Leu364fs Single submitter
- p.Leu364Pro Single submitter Inborn genetic diseases ⚠
- p.Leu373Val Single submitter ⚠
- p.Leu385Pro Single submitter keloid formation ⚠
- p.Leu54Phe Single submitter ⚠
- p.Leu65Trp Single submitter ⚠
- p.Lys100Asn Single submitter ⚠
- p.Lys100Ile Single submitter ⚠
- p.Lys117Glu Single submitter Inborn genetic diseases ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys152= Single submitter
- p.Lys183Glu Single submitter ⚠
- p.Lys196Arg Single submitter Farber lipogranulomatosis ⚠
- p.Lys243Met Single submitter ⚠
- p.Lys244Asn Single submitter ⚠
- p.Lys267Glu Single submitter ⚠
- p.Lys267Thr Single submitter ⚠
- p.Lys272Asn Single submitter ⚠
- p.Lys274Arg Single submitter ⚠
- p.Lys325Gln Single submitter ⚠
- p.Lys60Arg Single submitter ⚠
- p.Lys69Arg Single submitter ⚠
- p.Lys92Arg Single submitter ⚠
- p.Met161Thr Single submitter ⚠
- p.Met339Lys Single submitter ⚠
- p.Met354Ile Single submitter ⚠
- p.Met354Thr Single submitter ⚠
- p.Met83Lys Single submitter ⚠
- p.Met94Thr Single submitter ⚠
- p.Phe108Tyr Single submitter ⚠
- p.Phe108Val Single submitter ⚠
- p.Phe140Ile Single submitter ⚠
- p.Phe214Leu Single submitter ⚠
- p.Phe251Leu Single submitter ⚠
- p.Phe329Leu Single submitter Inborn genetic diseases ⚠
- p.Phe34Ser Single submitter Inborn genetic diseases
- p.Phe381Ser Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro102Thr Single submitter Farber lipogranulomatosis ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro126Arg Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro184Arg Single submitter ⚠
- p.Pro184His Single submitter ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro184Ser Single submitter ⚠
- p.Pro216Leu Single submitter Inborn genetic diseases ⚠
- p.Pro25Gln Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro26= Single submitter
- p.Pro26Leu Single submitter Farber lipogranulomatosis ⚠
- p.Pro278Gln Single submitter ⚠
- p.Pro2Ala Single submitter ⚠
- p.Pro2Arg Single submitter ⚠
- p.Pro2Ser Single submitter ⚠
- p.Pro336His Single submitter ⚠
- p.Pro362Leu Single submitter ⚠
- p.Pro389Arg Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro58Ala Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro89Ala Single submitter ⚠
- p.Pro89Ser Single submitter ⚠
- p.Ser17Asn Single submitter ⚠
- p.Ser17Thr Single submitter ⚠
- p.Ser220Gly Single submitter ⚠
- p.Ser228Gly Single submitter ⚠
- p.Ser260Gly Single submitter ⚠
- p.Ser262Arg Single submitter ⚠
- p.Ser288Cys Single submitter ⚠
- p.Ser301Leu Single submitter ⚠
- p.Ser345Arg Single submitter ⚠
- p.Ser345Asn Single submitter ⚠
- p.Ser39del Single submitter
- p.Ser5Ile Single submitter Inborn genetic diseases ⚠
- p.Ser79Thr Single submitter ⚠
- p.Ser90Gly Single submitter ⚠
- p.Ter396LeuextTer? Single submitter Farber lipogranulomatosis
- p.Thr141Ala Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr222Ile Single submitter ⚠
- p.Thr253Ser Single submitter ⚠
- p.Thr261Ile Single submitter Inborn genetic diseases ⚠