FAH — 842 ClinVar variants
All ClinVar germline FAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →
54 Pathogenic · 37 Pathogenic/Likely pathogenic · 83 Likely pathogenic · 48 Conflicting · 57 Benign · 12 Benign/Likely benign · 335 Likely benign · 216 Uncertain significance
Full FAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 202
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FAH p.Gln64His
Pathogenic
Multiple submitters
T-substance anomaly
-
FAH p.Pro342Leu
Pathogenic/Likely pathogenic
Multiple submitters
tyrosinemia type I
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FAH p.Arg131Trp
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Asp233Asn
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Asp386His
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Cys193Tyr
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Glu364Gln
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Gly207Asp
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Gly248Arg
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Gly353Arg
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.His133Leu
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Ile239Phe
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Ile36Thr
Conflicting
Single submitter
Renal tubulopathies
-
FAH p.Ile4Leu
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Pro13Leu
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Thr294Pro
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Val189Ile
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Val21Phe
Conflicting
Single submitter
tyrosinemia type I
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FAH p.Ala312Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
- FAH p.Arg103Gln Uncertain significance Multiple submitters
-
FAH p.Arg131Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Arg162Cys
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Arg162His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Arg341Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Arg341Pro
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Arg97Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Asn232Lys
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Asp38Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Asp399Asn
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Gly138Arg
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.His154Gln
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Ile108Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Ile373Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Ile391Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAH p.Ile45Val Uncertain significance Multiple submitters
-
FAH p.Leu195Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Met140Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Met177Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Met231Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Phe405Leu
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Phe405Tyr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Pro277Leu
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Pro28Ala
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Ser260Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Ser366Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Ser90Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Val274Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Val335Ile
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Val91Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Ala147Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FAH p.Ala147Val Uncertain significance Single submitter
-
FAH p.Ala192Gly
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Ala236Val Uncertain significance Single submitter
-
FAH p.Ala268Asp
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ala311Val
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ala347Thr
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg175Lys
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg211Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg237Gln
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg282Lys
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg82Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Asn276Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Asp123Glu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Asp238Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Asp27His
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Asp374His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Asp99Asn
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Cys315Arg Uncertain significance Single submitter
-
FAH p.Cys338Tyr
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gln179Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Gln329His
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gln75Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gln86Pro
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Glu199Asp
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Glu201Gly Uncertain significance Single submitter
-
FAH p.Glu8Ala
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gly178Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gly20Asp
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Gly360Asp Uncertain significance Single submitter
-
FAH p.Gly37Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gly394Glu
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Gly52Val Uncertain significance Single submitter
- FAH p.Ile121Lys Uncertain significance Single submitter
-
FAH p.Ile218Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Ile314Val
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Ile351Val Uncertain significance Single submitter
-
FAH p.Ile392Val
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Ile45Thr Uncertain significance Single submitter
-
FAH p.Leu196Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu247Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu327Val
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu43Pro
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu55Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Lys368Gln
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Met177Thr
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Met326Ile
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Met326Thr
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Met362Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Phe205Leu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Phe226Leu
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Pro156Ser Uncertain significance Single submitter
- FAH p.Pro176Arg Uncertain significance Single submitter
-
FAH p.Pro18Ala
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Pro30Leu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser165Cys
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser235Asn
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser334Phe
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser352Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Thr257Ala
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Thr325Lys
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Thr331Ala
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Tyr286Asn Uncertain significance Single submitter
- FAH p.Val206Ile Uncertain significance Single submitter
-
FAH p.Val259Leu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Val91Gly
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ala192Thr
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Ala203Thr
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asn377Ser
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asp233Glu
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asp399Ala
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asp399His
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Cys408Arg
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Gly122Arg
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Gly161Cys
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Gly20Ser
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Gly33Asp
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Gly360Val
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Leu195Phe
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Leu73Pro
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Met228Val
Uncertain significance
No assertion criteria
tyrosinemia type I
- FAH p.Phe272Leu Uncertain significance No assertion criteria
-
FAH p.Phe295Ser
Uncertain significance
No assertion criteria
FAH-related disorder
-
FAH p.Pro30Gln
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Pro372Ala
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Pro53Ala
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Ser169Phe
Uncertain significance
No assertion criteria
hepatoblastoma
-
FAH p.Trp262Ser
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Tyr159His
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Val263Met
Uncertain significance
No assertion criteria
tyrosinemia type I
Predictors split 63
The independent predictors disagree with each other — read with care.
-
FAH p.Arg402Cys
Uncertain significance
Multiple submitters
FAH-related disorder
-
FAH p.Asn136Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Asn146Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Asp99Gly
Likely benign
Multiple submitters
tyrosinemia type I
-
FAH p.Gly387Glu
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Gly398Glu
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Gly52Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Lys194Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FAH p.Lys47Glu
Benign
Multiple submitters
tyrosinemia type I
-
FAH p.Pro281Thr
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Pro354Leu
Uncertain significance
Multiple submitters
tyrosinemia type I
-
FAH p.Thr258Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FAH p.Ala81Val Uncertain significance Single submitter
-
FAH p.Arg103Trp
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Arg402His
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Asn276Ile
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Asn318Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gln132Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Glu101Gly
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Gly213Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Gly360Ser
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gly387Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Gly404Ser
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.His116Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.His289Arg
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ile121Met
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ile216Met
Conflicting
Single submitter
tyrosinemia type I
- FAH p.Leu230Val Uncertain significance Single submitter
-
FAH p.Leu375Pro
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu43Phe
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Leu49Val
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Lys253Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Met115Val
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Met266Val
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Pro188Ser
Uncertain significance
Single submitter
tyrosinemia type I
- FAH p.Pro215Leu Uncertain significance Single submitter
-
FAH p.Pro281Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Pro283Thr
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Pro285Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Pro285Leu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Pro354Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Pro414Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Ser219Phe
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser56Phe
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ser90Phe
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Thr114Met
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Thr294Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FAH p.Thr370Met Uncertain significance Single submitter
-
FAH p.Val137Ile
Conflicting
Single submitter
tyrosinemia type I
-
FAH p.Val166Leu
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Val168Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FAH p.Val168Met
Uncertain significance
Single submitter
tyrosinemia type I
-
FAH p.Ala77Val
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asn151Ser
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asp184Gly
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Asp399Val
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Glu223Val
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Leu345Val
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Lys57Ile
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Met140Leu
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Pro187Thr
Uncertain significance
No assertion criteria
tyrosinemia type I
-
FAH p.Pro215Gln
Uncertain significance
No assertion criteria
FAH-related disorder
-
FAH p.Pro342Ser
Uncertain significance
No assertion criteria
tyrosinemia type I
All FAH variants
Pathogenic 54
- c.1180+1G>A Multiple submitters tyrosinemia type I
- c.554-1G>T Multiple submitters FAH-related disorders
- c.707-1G>A Multiple submitters tyrosinemia type I
- c.707-1G>C Multiple submitters tyrosinemia type I
- p.Arg174Ter Multiple submitters tyrosinemia type I
- p.Gln328Ter Multiple submitters tyrosinemia type I
- p.Gln64fs Multiple submitters tyrosinemia type I
- p.Gln64His Multiple submitters T-substance anomaly ⚠
- p.Glu357Ter Multiple submitters FAH-related disorder
- p.Glu364Ter Multiple submitters FAH-related disorders
- p.Gly337_Cys338insTer Multiple submitters tyrosinemia type I
- p.Gly337Ser Multiple submitters tyrosinemia type I
- p.Gly33fs Multiple submitters tyrosinemia type I
- p.Met1Ile Multiple submitters tyrosinemia type I
- p.Met1Val Multiple submitters tyrosinemia type I
- p.Pro249fs Multiple submitters tyrosinemia type I
- p.Trp262Ter Multiple submitters FAH-related disorders
- p.Trp78Ter Multiple submitters tyrosinemia type I
- c.1062+2T>G Single submitter tyrosinemia type I
- c.1063-1G>A Single submitter tyrosinemia type I
- c.1063-2A>G Single submitter tyrosinemia type I
- c.315-2A>G Single submitter tyrosinemia type I
- c.837+1G>T Single submitter
- c.837+2T>C Single submitter
- c.914-2A>T Single submitter tyrosinemia type I
- p.Ala119fs Single submitter tyrosinemia type I
- p.Ala311fs Single submitter tyrosinemia type I
- p.Arg162fs Single submitter tyrosinemia type I
- p.Arg282fs Single submitter tyrosinemia type I
- p.Asp233fs Single submitter tyrosinemia type I
- p.Asp280fs Single submitter tyrosinemia type I
- p.Asp344fs Single submitter tyrosinemia type I
- p.Gln179fs Single submitter tyrosinemia type I
- p.Gln240Ter Single submitter tyrosinemia type I
- p.Gln86Ter Single submitter tyrosinemia type I
- p.Glu223Ter Single submitter tyrosinemia type I
- p.Gly343Arg Single submitter tyrosinemia type I
- p.Gly74fs Single submitter tyrosinemia type I
- p.Leu230Arg Single submitter tyrosinemia type I
- p.Leu287fs Single submitter tyrosinemia type I
- p.Leu327fs Single submitter tyrosinemia type I
- p.Leu345fs Single submitter tyrosinemia type I
- p.Lys241Ter Single submitter tyrosinemia type I
- p.Pro5fs Single submitter tyrosinemia type I
- p.Ser109fs Single submitter tyrosinemia type I
- p.Trp152Ter Single submitter tyrosinemia type I
- p.Tyr124Ter Single submitter tyrosinemia type I
- p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer Single submitter tyrosinemia type I
- p.Tyr128fs Single submitter tyrosinemia type I
- p.Tyr321Ter Single submitter tyrosinemia type I
- p.Tyr401Ter Single submitter tyrosinemia type I
- p.Val335fs Single submitter tyrosinemia type I
- p.Val412Glu Single submitter tyrosinemia type I
- p.Gln279fs No assertion criteria tyrosinemia type I
Pathogenic/Likely pathogenic 37
- c.1062+5G>A Multiple submitters FAH-related disorder
- c.192+1G>T Multiple submitters tyrosinemia type I
- c.315-3C>G Multiple submitters tyrosinemia type I
- c.548_553+20del Multiple submitters tyrosinemia type I
- c.607-1G>A Multiple submitters tyrosinemia type I
- c.82-1G>A Multiple submitters tyrosinemia type I
- c.82-1G>C Multiple submitters tyrosinemia type I
- c.914-1G>A Multiple submitters tyrosinemia type I
- p.Ala203fs Multiple submitters tyrosinemia type I
- p.Arg142Gly Multiple submitters tyrosinemia type I
- p.Arg237Ter Multiple submitters tyrosinemia type I
- p.Arg381Gly Multiple submitters FAH-related disorders
- p.Asn146fs Multiple submitters tyrosinemia type I
- p.Asn16Ile Multiple submitters tyrosinemia type I
- p.Asn232= Multiple submitters tyrosinemia type I
- p.Asp233Val Multiple submitters tyrosinemia type I
- p.Cys193Arg Multiple submitters tyrosinemia type I
- p.Gln110Ter Multiple submitters tyrosinemia type I
- p.Gln279Arg Multiple submitters tyrosinemia type I
- p.Gly343Trp Multiple submitters Inborn genetic diseases
- p.Leu41Pro Multiple submitters tyrosinemia type I
- p.Lys304Ter Multiple submitters tyrosinemia type I
- p.Phe12Leu Multiple submitters tyrosinemia type I
- p.Phe205fs Multiple submitters tyrosinemia type I
- p.Pro249Thr Multiple submitters tyrosinemia type I
- p.Pro261fs Multiple submitters tyrosinemia type I
- p.Pro261Leu Multiple submitters FAH-related disorders
- p.Pro28fs Multiple submitters tyrosinemia type I
- p.Pro342Leu Multiple submitters tyrosinemia type I ⚠
- p.Thr325Met Multiple submitters tyrosinemia type I
- p.Trp234Gly Multiple submitters tyrosinemia type I
- p.Trp234Ter Multiple submitters tyrosinemia type I
- p.Trp242Ter Multiple submitters tyrosinemia type I
- p.Trp324Ter Multiple submitters tyrosinemia type I
- p.Tyr293Ter Multiple submitters tyrosinemia type I
- p.Val206fs Multiple submitters tyrosinemia type I
- p.Ala134Asp No assertion criteria tyrosinemia type I
Likely pathogenic 83
- c.192+1G>A Multiple submitters tyrosinemia type I
- c.193-2A>G Multiple submitters tyrosinemia type I
- c.314+1G>A Multiple submitters tyrosinemia type I
- c.365-2A>G Multiple submitters tyrosinemia type I
- c.553+2_553+3del Multiple submitters tyrosinemia type I
- c.606+1G>A Multiple submitters tyrosinemia type I
- c.706+1G>A Multiple submitters tyrosinemia type I
- c.706+2T>G Multiple submitters tyrosinemia type I
- c.81+2T>A Multiple submitters tyrosinemia type I
- c.960+1G>A Multiple submitters tyrosinemia type I
- c.961-2A>C Multiple submitters tyrosinemia type I
- p.Gln397fs Multiple submitters tyrosinemia type I
- p.Gln39fs Multiple submitters tyrosinemia type I
- p.Gly191fs Multiple submitters tyrosinemia type I
- p.Gly343Glu Multiple submitters tyrosinemia type I
- p.Ser69fs Multiple submitters FAH-related disorders
- p.Thr125Arg Multiple submitters tyrosinemia type I
- p.Val166Gly Multiple submitters tyrosinemia type I
- c.1063-3_1063-1del Single submitter tyrosinemia type I
- c.192+1G>C Single submitter tyrosinemia type I
- c.193-1G>A Single submitter tyrosinemia type I
- c.315-1G>A Single submitter tyrosinemia type I
- c.364+2T>C Single submitter tyrosinemia type I
- c.364+2T>G Single submitter tyrosinemia type I
- c.455+1G>A Single submitter tyrosinemia type I
- c.456-1G>A Single submitter tyrosinemia type I
- c.456-2A>G Single submitter tyrosinemia type I
- c.553+1G>A Single submitter tyrosinemia type I
- c.553+2del Single submitter tyrosinemia type I
- c.553+5G>A Single submitter tyrosinemia type I
- c.566_606+62del Single submitter tyrosinemia type I
- c.606+1G>T Single submitter tyrosinemia type I
- c.607-6T>G Single submitter tyrosinemia type I
- c.81+1G>C Single submitter
- c.81+1G>T Single submitter tyrosinemia type I
- c.81+2del Single submitter tyrosinemia type I
- c.81+2T>G Single submitter tyrosinemia type I
- c.838-1G>C Single submitter tyrosinemia type I
- c.838-2A>G Single submitter tyrosinemia type I
- c.913+1G>T Single submitter tyrosinemia type I
- c.913+2T>C Single submitter tyrosinemia type I
- c.914-2A>G Single submitter tyrosinemia type I
- c.960+2T>C Single submitter tyrosinemia type I
- c.961-2A>G Single submitter tyrosinemia type I
- c.961-2A>T Single submitter tyrosinemia type I
- p.Ala409fs Single submitter tyrosinemia type I
- p.Arg82Ter Single submitter tyrosinemia type I
- p.Asp399fs Single submitter tyrosinemia type I
- p.Cys315fs Single submitter tyrosinemia type I
- p.Gln132Ter Single submitter tyrosinemia type I
- p.Gln279Ter Single submitter tyrosinemia type I
- p.Gln93Ter Single submitter tyrosinemia type I
- p.Glu101Ter Single submitter tyrosinemia type I
- p.Glu8Ter Single submitter tyrosinemia type I
- p.Gly138fs Single submitter tyrosinemia type I
- p.Gly170Val Single submitter tyrosinemia type I
- p.Gly178Ter Single submitter tyrosinemia type I
- p.Gly307Ter Single submitter tyrosinemia type I
- p.Gly404Arg Single submitter tyrosinemia type I
- p.His333fs Single submitter tyrosinemia type I
- p.Ile139fs Single submitter tyrosinemia type I
- p.Lys194Ter Single submitter tyrosinemia type I
- p.Met1_Ala7del Single submitter tyrosinemia type I
- p.Met1Leu Single submitter tyrosinemia type I
- p.Met1Lys Single submitter tyrosinemia type I
- p.Met270fs Single submitter tyrosinemia type I
- p.Met326fs Single submitter tyrosinemia type I
- p.Phe205_Val206insTer Single submitter tyrosinemia type I
- p.Pro18_Tyr19insTer Single submitter tyrosinemia type I
- p.Pro18Leu Single submitter tyrosinemia type I
- p.Pro249Ser Single submitter tyrosinemia type I
- p.Ser129Phe Single submitter tyrosinemia type I
- p.Ser2Phe Single submitter tyrosinemia type I
- p.Ser334fs Single submitter tyrosinemia type I
- p.Trp234Leu Single submitter tyrosinemia type I
- c.1181-1G>A No assertion criteria tyrosinemia type I
- c.81+2T>C No assertion criteria tyrosinemia type I
- p.Asp296Ter No assertion criteria tyrosinemia type I
- p.His154fs No assertion criteria tyrosinemia type I
- p.Ser165fs No assertion criteria tyrosinemia type I
- p.Ter420Arg No assertion criteria tyrosinemia type I
- p.Ter420Gly No assertion criteria tyrosinemia type I
- p.Tyr286fs No assertion criteria tyrosinemia type I
Conflicting classifications of pathogenicity 48
- c.1180+10G>A Single submitter tyrosinemia type I
- c.455+9T>C Single submitter tyrosinemia type I
- c.553+10C>T Single submitter tyrosinemia type I
- c.607-20T>A Single submitter tyrosinemia type I
- c.707-7_707-5del Single submitter tyrosinemia type I
- c.81+12G>A Single submitter tyrosinemia type I
- c.81+13G>T Single submitter tyrosinemia type I
- c.81+8G>A Single submitter tyrosinemia type I
- c.-43G>T Single submitter tyrosinemia type I
- p.Ala81= Single submitter tyrosinemia type I
- p.Arg131Trp Single submitter tyrosinemia type I ⚠
- p.Arg402His Single submitter tyrosinemia type I ⚠
- p.Asp233Asn Single submitter tyrosinemia type I ⚠
- p.Asp290= Single submitter tyrosinemia type I
- p.Asp386His Single submitter tyrosinemia type I ⚠
- p.Cys193Tyr Single submitter tyrosinemia type I ⚠
- p.Cys288= Single submitter tyrosinemia type I
- p.Glu101Gly Single submitter tyrosinemia type I ⚠
- p.Glu364Gln Single submitter tyrosinemia type I ⚠
- p.Gly207Asp Single submitter tyrosinemia type I ⚠
- p.Gly248Arg Single submitter tyrosinemia type I ⚠
- p.Gly353Arg Single submitter tyrosinemia type I ⚠
- p.Gly37= Single submitter tyrosinemia type I
- p.Gly404Ser Single submitter tyrosinemia type I ⚠
- p.His133Leu Single submitter tyrosinemia type I ⚠
- p.Ile216= Single submitter tyrosinemia type I
- p.Ile216Met Single submitter tyrosinemia type I ⚠
- p.Ile239Phe Single submitter tyrosinemia type I ⚠
- p.Ile297= Single submitter tyrosinemia type I
- p.Ile36Thr Single submitter Renal tubulopathies ⚠
- p.Ile4Leu Single submitter tyrosinemia type I ⚠
- p.Leu384= Single submitter tyrosinemia type I
- p.Leu49= Single submitter tyrosinemia type I
- p.Lys47= Single submitter tyrosinemia type I
- p.Lys79= Single submitter tyrosinemia type I
- p.Phe405His Single submitter tyrosinemia type I
- p.Phe50= Single submitter tyrosinemia type I
- p.Pro13Leu Single submitter tyrosinemia type I ⚠
- p.Pro277= Single submitter tyrosinemia type I
- p.Pro354= Single submitter tyrosinemia type I
- p.Ser366del Single submitter tyrosinemia type I
- p.Thr100= Single submitter tyrosinemia type I
- p.Thr114Met Single submitter tyrosinemia type I ⚠
- p.Thr294Pro Single submitter tyrosinemia type I ⚠
- p.Val137Ile Single submitter tyrosinemia type I ⚠
- p.Val189Ile Single submitter tyrosinemia type I ⚠
- p.Val21Phe Single submitter tyrosinemia type I ⚠
- p.Val83= Single submitter tyrosinemia type I
Benign 57
- c.1180+4A>G Multiple submitters tyrosinemia type I
- c.1181-98C>T Multiple submitters
- c.193-23T>C Multiple submitters tyrosinemia type I
- c.193-85C>T Multiple submitters
- c.314+224C>G Multiple submitters
- c.314+49G>A Multiple submitters tyrosinemia type I
- c.315-181G>A Multiple submitters
- c.364+142G>T Multiple submitters
- c.364+85T>G Multiple submitters tyrosinemia type I
- c.455+29G>A Multiple submitters tyrosinemia type I
- c.455+67T>C Multiple submitters tyrosinemia type I
- c.456-20C>T Multiple submitters tyrosinemia type I
- c.553+33A>G Multiple submitters tyrosinemia type I
- c.607-176T>C Multiple submitters
- c.706+79A>G Multiple submitters tyrosinemia type I
- c.707-56G>A Multiple submitters
- c.81+38dup Multiple submitters
- c.82-13G>A Multiple submitters tyrosinemia type I
- c.82-74T>C Multiple submitters tyrosinemia type I
- c.838-196A>G Multiple submitters tyrosinemia type I
- c.913+156G>C Multiple submitters
- c.960+115G>A Multiple submitters tyrosinemia type I
- c.961-35C>A Multiple submitters tyrosinemia type I
- c.-105G>C Multiple submitters tyrosinemia type I
- c.-34C>T Multiple submitters tyrosinemia type I
- c.-89G>C Multiple submitters
- c.*284C>G Multiple submitters tyrosinemia type I
- c.*310T>A Multiple submitters tyrosinemia type I
- c.*94T>C Multiple submitters tyrosinemia type I
- p.Ile403= Multiple submitters tyrosinemia type I
- p.Leu89= Multiple submitters tyrosinemia type I
- p.Lys47Glu Multiple submitters tyrosinemia type I ⚠
- p.Ser352= Multiple submitters tyrosinemia type I
- c.1180+113T>C Single submitter
- c.1180+161A>G Single submitter
- c.1181-204G>A Single submitter
- c.1181-210G>A Single submitter
- c.1181-235C>T Single submitter
- c.193-331_193-330del Single submitter
- c.456-267G>C Single submitter
- c.554-16dup Single submitter
- c.606+271G>A Single submitter
- c.706+202_706+203insAT Single submitter
- c.707-107del Single submitter
- c.81+39_81+57del Single submitter
- c.838-173del Single submitter
- c.838-295C>T Single submitter
- c.913+193G>T Single submitter
- c.914-297A>G Single submitter
- c.914-316T>C Single submitter
- c.961-223T>C Single submitter
- c.*38_*41del Single submitter
- c.*38A>C Single submitter
- c.*40C>T Single submitter
- c.*45_*46insGTTT Single submitter
- c.*51del Single submitter
- c.554-16del No assertion criteria tyrosinemia
Benign/Likely benign 12
- c.315-14G>A Multiple submitters tyrosinemia type I
- c.554-15C>T Multiple submitters tyrosinemia type I
- c.554-20T>G Multiple submitters tyrosinemia type I
- c.82-19G>A Multiple submitters tyrosinemia type I
- c.837+9A>T Multiple submitters tyrosinemia type I
- c.961-17G>A Multiple submitters tyrosinemia type I
- c.-178G>A Multiple submitters tyrosinemia type I
- c.*88C>T Multiple submitters tyrosinemia type I
- p.Gly161= Multiple submitters tyrosinemia type I
- p.Lys181= Multiple submitters tyrosinemia type I
- p.Ter420= Multiple submitters tyrosinemia type I
- p.Val61Phe Multiple submitters tyrosinemia type I
Likely benign 335
Showing the top 300 by review status; the full set is in the sitemap.
- c.1063-127C>A Multiple submitters
- c.1180+83A>G Multiple submitters
- c.1181-17G>T Multiple submitters tyrosinemia type I
- c.314+11C>T Multiple submitters tyrosinemia type I
- c.315-18C>G Multiple submitters tyrosinemia type I
- c.455+19G>C Multiple submitters tyrosinemia type I
- c.553+15C>T Multiple submitters tyrosinemia type I
- c.706+9T>C Multiple submitters tyrosinemia type I
- c.707-122G>A Multiple submitters
- c.82-14C>T Multiple submitters tyrosinemia type I
- c.838-50G>A Multiple submitters
- c.961-15G>A Multiple submitters tyrosinemia type I
- c.961-16C>T Multiple submitters tyrosinemia type I
- p.Asn336= Multiple submitters tyrosinemia type I
- p.Asp386= Multiple submitters tyrosinemia type I
- p.Asp99Gly Multiple submitters tyrosinemia type I ⚠
- p.Phe359= Multiple submitters tyrosinemia type I
- p.Phe84= Multiple submitters tyrosinemia type I
- p.Pro30= Multiple submitters tyrosinemia type I
- p.Pro342= Multiple submitters tyrosinemia type I
- p.Val137= Multiple submitters tyrosinemia type I
- c.1062+103G>A Single submitter
- c.1062+11G>C Single submitter tyrosinemia type I
- c.1062+15G>C Single submitter tyrosinemia type I
- c.1062+16C>T Single submitter tyrosinemia type I
- c.1062+18C>T Single submitter tyrosinemia type I
- c.1063-10T>C Single submitter tyrosinemia type I
- c.1063-12C>T Single submitter tyrosinemia type I
- c.1063-18C>T Single submitter tyrosinemia type I
- c.1063-274G>C Single submitter
- c.1063-9G>T Single submitter tyrosinemia type I
- c.1180+10G>T Single submitter tyrosinemia type I
- c.1180+18C>G Single submitter tyrosinemia type I
- c.1180+7G>T Single submitter tyrosinemia type I
- c.1180+9T>G Single submitter tyrosinemia type I
- c.1181-10T>C Single submitter tyrosinemia type I
- c.1181-18T>G Single submitter tyrosinemia type I
- c.1181-7G>A Single submitter tyrosinemia type I
- c.1181-9C>G Single submitter tyrosinemia type I
- c.192+109G>A Single submitter
- c.192+10T>C Single submitter tyrosinemia type I
- c.192+13G>T Single submitter tyrosinemia type I
- c.192+17C>T Single submitter tyrosinemia type I
- c.192+18G>A Single submitter tyrosinemia type I
- c.192+19A>C Single submitter tyrosinemia type I
- c.192+212G>A Single submitter
- c.192+9T>C Single submitter tyrosinemia type I
- c.193-15_193-14del Single submitter tyrosinemia type I
- c.193-16C>T Single submitter tyrosinemia type I
- c.193-17C>A Single submitter tyrosinemia type I
- c.193-8G>T Single submitter tyrosinemia type I
- c.314+11C>G Single submitter tyrosinemia type I
- c.314+12G>A Single submitter tyrosinemia type I
- c.314+12G>T Single submitter tyrosinemia type I
- c.314+14G>T Single submitter tyrosinemia type I
- c.314+18A>C Single submitter tyrosinemia type I
- c.314+18A>G Single submitter
- c.314+18A>T Single submitter tyrosinemia type I
- c.314+20del Single submitter tyrosinemia type I
- c.315-11C>T Single submitter tyrosinemia type I
- c.315-12T>C Single submitter tyrosinemia type I
- c.315-12T>G Single submitter tyrosinemia type I
- c.315-13T>A Single submitter tyrosinemia type I
- c.315-7G>A Single submitter tyrosinemia type I
- c.315-9G>A Single submitter tyrosinemia type I
- c.315-9G>C Single submitter tyrosinemia type I
- c.364+10G>C Single submitter tyrosinemia type I
- c.364+12C>T Single submitter tyrosinemia type I
- c.364+15T>C Single submitter tyrosinemia type I
- c.364+18A>T Single submitter tyrosinemia type I
- c.364+19C>G Single submitter tyrosinemia type I
- c.364+19C>T Single submitter tyrosinemia type I
- c.364+7G>T Single submitter tyrosinemia type I
- c.364+9A>G Single submitter tyrosinemia type I
- c.365-109A>G Single submitter
- c.365-10del Single submitter tyrosinemia type I
- c.365-10dup Single submitter tyrosinemia type I
- c.365-11T>C Single submitter tyrosinemia type I
- c.365-12T>C Single submitter tyrosinemia type I
- c.365-15G>A Single submitter tyrosinemia type I
- c.365-17G>T Single submitter tyrosinemia type I
- c.365-18T>G Single submitter tyrosinemia type I
- c.365-4G>A Single submitter tyrosinemia type I
- c.365-4G>T Single submitter tyrosinemia type I
- c.365-5T>C Single submitter tyrosinemia type I
- c.365-8C>G Single submitter tyrosinemia type I
- c.365-9C>A Single submitter tyrosinemia type I
- c.365-9C>T Single submitter tyrosinemia type I
- c.455+10G>A Single submitter tyrosinemia type I
- c.455+12G>A Single submitter tyrosinemia type I
- c.455+17A>C Single submitter tyrosinemia type I
- c.455+18T>C Single submitter tyrosinemia type I
- c.455+19G>A Single submitter tyrosinemia type I
- c.455+6_455+10del Single submitter tyrosinemia type I
- c.456-10C>G Single submitter tyrosinemia type I
- c.456-10C>T Single submitter tyrosinemia type I
- c.456-13C>G Single submitter tyrosinemia type I
- c.456-14C>A Single submitter tyrosinemia type I
- c.456-4T>G Single submitter tyrosinemia type I
- c.553+11G>A Single submitter tyrosinemia type I
- c.553+11G>T Single submitter tyrosinemia type I
- c.553+15C>A Single submitter tyrosinemia type I
- c.553+16G>A Single submitter tyrosinemia type I
- c.553+16G>T Single submitter tyrosinemia type I
- c.553+17T>C Single submitter tyrosinemia type I
- c.553+7G>A Single submitter tyrosinemia type I
- c.554-10G>A Single submitter tyrosinemia type I
- c.554-12G>A Single submitter tyrosinemia type I
- c.554-15dup Single submitter tyrosinemia type I
- c.554-16T>C Single submitter tyrosinemia type I
- c.554-17_554-16insA Single submitter tyrosinemia type I
- c.554-4C>G Single submitter tyrosinemia type I
- c.554-6T>C Single submitter tyrosinemia type I
- c.606+10C>T Single submitter tyrosinemia type I
- c.606+11T>A Single submitter tyrosinemia type I
- c.606+11T>C Single submitter tyrosinemia type I
- c.606+14A>C Single submitter tyrosinemia type I
- c.606+16G>C Single submitter tyrosinemia type I
- c.606+17T>G Single submitter tyrosinemia type I
- c.606+20T>C Single submitter tyrosinemia type I
- c.606+8A>G Single submitter tyrosinemia type I
- c.606+8A>T Single submitter tyrosinemia type I
- c.607-10C>T Single submitter tyrosinemia type I
- c.607-14C>A Single submitter tyrosinemia type I
- c.607-17A>C Single submitter tyrosinemia type I
- c.607-17A>G Single submitter tyrosinemia type I
- c.607-18A>G Single submitter tyrosinemia type I
- c.607-4T>A Single submitter tyrosinemia type I
- c.607-5G>A Single submitter tyrosinemia type I
- c.607-8C>A Single submitter tyrosinemia type I
- c.607-9C>T Single submitter tyrosinemia type I
- c.706+16C>T Single submitter tyrosinemia type I
- c.706+20T>C Single submitter tyrosinemia type I
- c.707-10T>C Single submitter tyrosinemia type I
- c.707-12C>T Single submitter tyrosinemia type I
- c.707-13C>T Single submitter tyrosinemia type I
- c.707-63G>A Single submitter
- c.707-8T>G Single submitter tyrosinemia type I
- c.81+10G>A Single submitter tyrosinemia type I
- c.81+16T>C Single submitter tyrosinemia type I
- c.81+17T>C Single submitter tyrosinemia type I
- c.81+9T>A Single submitter tyrosinemia type I
- c.82-11C>T Single submitter tyrosinemia type I
- c.82-16G>A Single submitter tyrosinemia type I
- c.82-19G>C Single submitter tyrosinemia type I
- c.82-20C>T Single submitter tyrosinemia type I
- c.82-4C>T Single submitter tyrosinemia type I
- c.82-5_82-3del Single submitter tyrosinemia type I
- c.82-5C>A Single submitter tyrosinemia type I
- c.82-5C>G Single submitter tyrosinemia type I
- c.82-8C>T Single submitter tyrosinemia type I
- c.837+120C>T Single submitter
- c.837+13T>A Single submitter tyrosinemia type I
- c.837+16G>A Single submitter tyrosinemia type I
- c.837+17C>A Single submitter tyrosinemia type I
- c.837+18A>G Single submitter tyrosinemia type I
- c.837+277G>A Single submitter
- c.837+97G>A Single submitter
- c.837+9A>G Single submitter tyrosinemia type I
- c.838-10G>C Single submitter tyrosinemia type I
- c.838-10G>T Single submitter tyrosinemia type I
- c.838-11T>C Single submitter tyrosinemia type I
- c.838-15G>A Single submitter tyrosinemia type I
- c.838-19C>T Single submitter tyrosinemia type I
- c.838-28_838-15del Single submitter tyrosinemia type I
- c.838-9C>T Single submitter tyrosinemia type I
- c.913+10A>G Single submitter tyrosinemia type I
- c.913+13G>A Single submitter tyrosinemia type I
- c.913+13G>C Single submitter tyrosinemia type I
- c.913+14G>A Single submitter tyrosinemia type I
- c.913+15G>T Single submitter tyrosinemia type I
- c.913+16A>G Single submitter tyrosinemia type I
- c.913+17C>A Single submitter tyrosinemia type I
- c.913+8G>A Single submitter tyrosinemia type I
- c.913+8G>C Single submitter tyrosinemia type I
- c.913+8G>T Single submitter tyrosinemia type I
- c.914-10T>C Single submitter tyrosinemia type I
- c.914-7C>T Single submitter tyrosinemia type I
- c.914-8T>C Single submitter tyrosinemia type I
- c.960+12C>T Single submitter tyrosinemia type I
- c.960+26C>T Single submitter
- c.961-11A>G Single submitter tyrosinemia type I
- c.961-13C>T Single submitter tyrosinemia type I
- c.961-18C>G Single submitter tyrosinemia type I
- c.961-18C>T Single submitter tyrosinemia type I
- c.961-20C>G Single submitter tyrosinemia type I
- c.961-5T>C Single submitter tyrosinemia type I
- c.961-8G>T Single submitter tyrosinemia type I
- c.-7C>T Single submitter
- c.-88G>T Single submitter
- p.Ala106= Single submitter tyrosinemia type I
- p.Ala119= Single submitter tyrosinemia type I
- p.Ala134= Single submitter tyrosinemia type I
- p.Ala147= Single submitter tyrosinemia type I
- p.Ala192= Single submitter tyrosinemia type I
- p.Ala203= Single submitter tyrosinemia type I
- p.Ala221= Single submitter tyrosinemia type I
- p.Ala311= Single submitter tyrosinemia type I
- p.Ala415= Single submitter tyrosinemia type I
- p.Ala7= Single submitter tyrosinemia type I
- p.Arg103= Single submitter tyrosinemia type I
- p.Arg175= Single submitter tyrosinemia type I
- p.Arg237= Single submitter tyrosinemia type I
- p.Arg282= Single submitter tyrosinemia type I
- p.Arg29= Single submitter tyrosinemia type I
- p.Arg402= Single submitter tyrosinemia type I
- p.Asn136= Single submitter tyrosinemia type I
- p.Asn16= Single submitter tyrosinemia type I
- p.Asn298= Single submitter tyrosinemia type I
- p.Asn302= Single submitter tyrosinemia type I
- p.Asn63= Single submitter tyrosinemia type I
- p.Asn87= Single submitter tyrosinemia type I
- p.Asp11= Single submitter tyrosinemia type I
- p.Asp183= Single submitter tyrosinemia type I
- p.Asp197= Single submitter tyrosinemia type I
- p.Asp233= Single submitter tyrosinemia type I
- p.Asp267= Single submitter tyrosinemia type I
- p.Asp374= Single submitter tyrosinemia type I
- p.Asp388= Single submitter tyrosinemia type I
- p.Asp42= Single submitter tyrosinemia type I
- p.Asp98= Single submitter tyrosinemia type I
- p.Asp99= Single submitter tyrosinemia type I
- p.Cys396= Single submitter tyrosinemia type I
- p.Gln132= Single submitter tyrosinemia type I
- p.Gln407= Single submitter tyrosinemia type I
- p.Gln86= Single submitter tyrosinemia type I
- p.Glu199= Single submitter tyrosinemia type I
- p.Glu214= Single submitter tyrosinemia type I
- p.Glu223= Single submitter tyrosinemia type I
- p.Glu243= Single submitter tyrosinemia type I
- p.Gly138= Single submitter tyrosinemia type I
- p.Gly178= Single submitter tyrosinemia type I
- p.Gly20= Single submitter tyrosinemia type I
- p.Gly207= Single submitter tyrosinemia type I
- p.Gly252= Single submitter tyrosinemia type I
- p.Gly256= Single submitter tyrosinemia type I
- p.Gly307= Single submitter tyrosinemia type I
- p.Gly343= Single submitter tyrosinemia type I
- p.Gly353= Single submitter tyrosinemia type I
- p.Gly360= Single submitter tyrosinemia type I
- p.Gly378= Single submitter tyrosinemia type I
- p.Gly387= Single submitter tyrosinemia type I
- p.Gly394= Single submitter tyrosinemia type I
- p.Gly398= Single submitter tyrosinemia type I
- p.His116= Single submitter tyrosinemia type I
- p.His154= Single submitter tyrosinemia type I
- p.His160= Single submitter tyrosinemia type I
- p.His222= Single submitter tyrosinemia type I
- p.His332= Single submitter tyrosinemia type I
- p.Ile173= Single submitter tyrosinemia type I
- p.Ile373= Single submitter tyrosinemia type I
- p.Ile4= Single submitter tyrosinemia type I
- p.Ile40= Single submitter tyrosinemia type I
- p.Ile46= Single submitter tyrosinemia type I
- p.Leu102= Single submitter tyrosinemia type I
- p.Leu148= Single submitter tyrosinemia type I
- p.Leu153= Single submitter tyrosinemia type I
- p.Leu17= Single submitter tyrosinemia type I
- p.Leu196= Single submitter tyrosinemia type I
- p.Leu200= Single submitter tyrosinemia type I
- p.Leu212= Single submitter tyrosinemia type I
- p.Leu247= Single submitter tyrosinemia type I
- p.Leu251= Single submitter tyrosinemia type I
- p.Leu269= Single submitter tyrosinemia type I
- p.Leu284= Single submitter tyrosinemia type I
- p.Leu299= Single submitter tyrosinemia type I
- p.Leu303= Single submitter tyrosinemia type I
- p.Leu327= Single submitter tyrosinemia type I
- p.Leu340= Single submitter tyrosinemia type I
- p.Leu346= Single submitter tyrosinemia type I
- p.Leu363= Single submitter tyrosinemia type I
- p.Leu375= Single submitter tyrosinemia type I
- p.Leu413= Single submitter tyrosinemia type I
- p.Leu43= Single submitter tyrosinemia type I
- p.Leu55= Single submitter tyrosinemia type I
- p.Leu67= Single submitter tyrosinemia type I
- p.Leu85= Single submitter tyrosinemia type I
- p.Lys104= Single submitter tyrosinemia type I
- p.Lys186= Single submitter tyrosinemia type I
- p.Lys194= Single submitter tyrosinemia type I
- p.Lys241= Single submitter tyrosinemia type I
- p.Lys253= Single submitter tyrosinemia type I
- p.Lys316= Single submitter tyrosinemia type I
- p.Lys371= Single submitter tyrosinemia type I
- p.Lys382= Single submitter tyrosinemia type I
- p.Phe22= Single submitter tyrosinemia type I
- p.Phe3= Single submitter tyrosinemia type I
- p.Phe70= Single submitter tyrosinemia type I
- p.Pro176= Single submitter tyrosinemia type I
- p.Pro18= Single submitter tyrosinemia type I
- p.Pro188= Single submitter tyrosinemia type I
- p.Pro215= Single submitter tyrosinemia type I
- p.Pro246= Single submitter tyrosinemia type I
- p.Pro249= Single submitter tyrosinemia type I
- p.Pro261= Single submitter tyrosinemia type I
- p.Pro275= Single submitter tyrosinemia type I
- p.Pro281= Single submitter tyrosinemia type I
- p.Pro285= Single submitter tyrosinemia type I
- p.Pro292= Single submitter tyrosinemia type I
- p.Pro356= Single submitter tyrosinemia type I
Uncertain significance 216
- c.82-3T>C Multiple submitters Inborn genetic diseases
- c.-67C>A Multiple submitters tyrosinemia type I
- c.*138G>A Multiple submitters tyrosinemia type I
- p.Ala312Thr Multiple submitters tyrosinemia type I ⚠
- p.Arg103Gln Multiple submitters ⚠
- p.Arg131Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg162Cys Multiple submitters tyrosinemia type I ⚠
- p.Arg162His Multiple submitters Inborn genetic diseases ⚠
- p.Arg341Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg341Pro Multiple submitters tyrosinemia type I ⚠
- p.Arg402Cys Multiple submitters FAH-related disorder ⚠
- p.Arg97Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn136Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn146Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn232Lys Multiple submitters tyrosinemia type I ⚠
- p.Asp38Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp399Asn Multiple submitters tyrosinemia type I ⚠
- p.Gly138Arg Multiple submitters tyrosinemia type I ⚠
- p.Gly387Glu Multiple submitters tyrosinemia type I ⚠
- p.Gly398Glu Multiple submitters tyrosinemia type I ⚠
- p.Gly52Asp Multiple submitters Inborn genetic diseases ⚠
- p.His154Gln Multiple submitters tyrosinemia type I ⚠
- p.Ile108Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile373Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile391Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile45Val Multiple submitters ⚠
- p.Leu195Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys194Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met140Thr Multiple submitters tyrosinemia type I ⚠
- p.Met177Val Multiple submitters Inborn genetic diseases ⚠
- p.Met231Thr Multiple submitters tyrosinemia type I ⚠
- p.Phe405Leu Multiple submitters tyrosinemia type I ⚠
- p.Phe405Tyr Multiple submitters tyrosinemia type I ⚠
- p.Pro277Leu Multiple submitters tyrosinemia type I ⚠
- p.Pro281Thr Multiple submitters tyrosinemia type I ⚠
- p.Pro28Ala Multiple submitters tyrosinemia type I ⚠
- p.Pro354Leu Multiple submitters tyrosinemia type I ⚠
- p.Ser260Thr Multiple submitters tyrosinemia type I ⚠
- p.Ser366Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser90Thr Multiple submitters tyrosinemia type I ⚠
- p.Thr258Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val274Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val335Ile Multiple submitters tyrosinemia type I ⚠
- p.Val91Met Multiple submitters Inborn genetic diseases ⚠
- c.314+4A>G Single submitter tyrosinemia type I
- c.365-2_399dup Single submitter tyrosinemia type I
- c.455+3A>G Single submitter tyrosinemia type I
- c.455+3A>T Single submitter tyrosinemia type I
- c.542_553+4dup Single submitter tyrosinemia type I
- c.553+6T>G Single submitter tyrosinemia type I
- c.606+6T>C Single submitter tyrosinemia type I
- c.837+5G>A Single submitter tyrosinemia type I
- c.960+3A>G Single submitter
- c.960+5G>A Single submitter tyrosinemia type I
- c.-159C>G Single submitter tyrosinemia type I
- c.-23A>C Single submitter tyrosinemia type I
- c.-40C>G Single submitter tyrosinemia type I
- c.-63C>A Single submitter tyrosinemia type I
- c.*129T>C Single submitter tyrosinemia type I
- c.*288G>A Single submitter tyrosinemia type I
- c.*317G>A Single submitter tyrosinemia type I
- p.Ala147Glu Single submitter Inborn genetic diseases ⚠
- p.Ala147Val Single submitter ⚠
- p.Ala192Gly Single submitter tyrosinemia type I ⚠
- p.Ala236Val Single submitter ⚠
- p.Ala268Asp Single submitter tyrosinemia type I ⚠
- p.Ala311Val Single submitter tyrosinemia type I ⚠
- p.Ala347Thr Single submitter tyrosinemia type I ⚠
- p.Ala81Val Single submitter ⚠
- p.Arg103Trp Single submitter tyrosinemia type I ⚠
- p.Arg175Lys Single submitter tyrosinemia type I ⚠
- p.Arg211Ser Single submitter tyrosinemia type I ⚠
- p.Arg237Gln Single submitter tyrosinemia type I ⚠
- p.Arg282Lys Single submitter tyrosinemia type I ⚠
- p.Arg82Ser Single submitter tyrosinemia type I ⚠
- p.Asn276Ile Single submitter tyrosinemia type I ⚠
- p.Asn276Ser Single submitter tyrosinemia type I ⚠
- p.Asn318Ser Single submitter tyrosinemia type I ⚠
- p.Asp123Glu Single submitter tyrosinemia type I ⚠
- p.Asp238Glu Single submitter Inborn genetic diseases ⚠
- p.Asp27His Single submitter tyrosinemia type I ⚠
- p.Asp374His Single submitter Inborn genetic diseases ⚠
- p.Asp99Asn Single submitter tyrosinemia type I ⚠
- p.Cys315Arg Single submitter ⚠
- p.Cys338Tyr Single submitter tyrosinemia type I ⚠
- p.Gln132Arg Single submitter tyrosinemia type I ⚠
- p.Gln179Leu Single submitter Inborn genetic diseases ⚠
- p.Gln279= Single submitter tyrosinemia type I
- p.Gln329His Single submitter tyrosinemia type I ⚠
- p.Gln75Arg Single submitter tyrosinemia type I ⚠
- p.Gln86Pro Single submitter tyrosinemia type I ⚠
- p.Glu199Asp Single submitter tyrosinemia type I ⚠
- p.Glu201Gly Single submitter ⚠
- p.Glu389= Single submitter tyrosinemia type I
- p.Glu8Ala Single submitter tyrosinemia type I ⚠
- p.Gly170= Single submitter
- p.Gly178Arg Single submitter tyrosinemia type I ⚠
- p.Gly20Asp Single submitter tyrosinemia type I ⚠
- p.Gly213Glu Single submitter Inborn genetic diseases ⚠
- p.Gly343Leu Single submitter
- p.Gly360Asp Single submitter ⚠
- p.Gly360Ser Single submitter tyrosinemia type I ⚠
- p.Gly37Ser Single submitter tyrosinemia type I ⚠
- p.Gly387Arg Single submitter tyrosinemia type I ⚠
- p.Gly394Glu Single submitter tyrosinemia type I ⚠
- p.Gly52Val Single submitter ⚠
- p.Gly74_Lys79del Single submitter tyrosinemia type I
- p.His116Gln Single submitter tyrosinemia type I
- p.His116Leu Single submitter Inborn genetic diseases ⚠
- p.His289Arg Single submitter tyrosinemia type I ⚠
- p.Ile121Lys Single submitter ⚠
- p.Ile121Met Single submitter tyrosinemia type I ⚠
- p.Ile218Val Single submitter Inborn genetic diseases ⚠
- p.Ile314Val Single submitter tyrosinemia type I ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile392Val Single submitter tyrosinemia type I ⚠
- p.Ile45Thr Single submitter ⚠
- p.Leu196Ser Single submitter tyrosinemia type I ⚠
- p.Leu230Val Single submitter ⚠
- p.Leu247Arg Single submitter tyrosinemia type I ⚠
- p.Leu327Val Single submitter tyrosinemia type I ⚠
- p.Leu375Pro Single submitter tyrosinemia type I ⚠
- p.Leu43Phe Single submitter tyrosinemia type I ⚠
- p.Leu43Pro Single submitter tyrosinemia type I ⚠
- p.Leu49Val Single submitter tyrosinemia type I ⚠
- p.Leu55Val Single submitter Inborn genetic diseases ⚠
- p.Leu89fs Single submitter tyrosinemia type I
- p.Lys253Asn Single submitter Inborn genetic diseases ⚠
- p.Lys368Gln Single submitter tyrosinemia type I ⚠
- p.Met115Val Single submitter tyrosinemia type I ⚠
- p.Met177Thr Single submitter tyrosinemia type I ⚠
- p.Met266Val Single submitter tyrosinemia type I ⚠
- p.Met326Ile Single submitter tyrosinemia type I ⚠
- p.Met326Thr Single submitter tyrosinemia type I ⚠
- p.Met362Thr Single submitter Inborn genetic diseases ⚠
- p.Phe205Leu Single submitter tyrosinemia type I ⚠
- p.Phe226Leu Single submitter tyrosinemia type I ⚠
- p.Pro156Ser Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro188Ser Single submitter tyrosinemia type I ⚠
- p.Pro18Ala Single submitter tyrosinemia type I ⚠
- p.Pro215Leu Single submitter ⚠
- p.Pro281Leu Single submitter Inborn genetic diseases ⚠
- p.Pro283Thr Single submitter tyrosinemia type I ⚠
- p.Pro285Arg Single submitter Inborn genetic diseases ⚠
- p.Pro285Leu Single submitter tyrosinemia type I ⚠
- p.Pro30Leu Single submitter tyrosinemia type I ⚠
- p.Pro354Ser Single submitter Inborn genetic diseases ⚠
- p.Pro414Arg Single submitter Inborn genetic diseases ⚠
- p.Ser165Cys Single submitter tyrosinemia type I ⚠
- p.Ser219Phe Single submitter tyrosinemia type I ⚠
- p.Ser235Asn Single submitter tyrosinemia type I ⚠
- p.Ser334Phe Single submitter tyrosinemia type I ⚠
- p.Ser352Asn Single submitter Inborn genetic diseases ⚠
- p.Ser56Phe Single submitter tyrosinemia type I ⚠
- p.Ser90Phe Single submitter tyrosinemia type I ⚠
- p.Thr257Ala Single submitter tyrosinemia type I ⚠
- p.Thr294Ile Single submitter Inborn genetic diseases ⚠
- p.Thr325Lys Single submitter tyrosinemia type I ⚠
- p.Thr331Ala Single submitter tyrosinemia type I ⚠
- p.Thr370Met Single submitter ⚠
- p.Thr393= Single submitter tyrosinemia type I
- p.Tyr286Asn Single submitter ⚠
- p.Val166Leu Single submitter tyrosinemia type I ⚠
- p.Val168Ala Single submitter Inborn genetic diseases ⚠
- p.Val168Met Single submitter tyrosinemia type I ⚠
- p.Val189= Single submitter tyrosinemia type I
- p.Val206Ile Single submitter ⚠
- p.Val259Leu Single submitter tyrosinemia type I ⚠
- p.Val91Gly Single submitter tyrosinemia type I ⚠
- c.365-6C>T No assertion criteria tyrosinemia type I
- c.553+8A>G No assertion criteria tyrosinemia type I
- c.554-3del No assertion criteria tyrosinemia type I
- c.607-10C>G No assertion criteria tyrosinemia type I
- c.707-11T>C No assertion criteria tyrosinemia type I
- c.914-4A>G No assertion criteria tyrosinemia type I
- c.-8T>C No assertion criteria tyrosinemia type I
- c.*1G>A No assertion criteria tyrosinemia type I
- p.Ala192Thr No assertion criteria tyrosinemia type I ⚠
- p.Ala203Thr No assertion criteria tyrosinemia type I ⚠
- p.Ala77Val No assertion criteria tyrosinemia type I ⚠
- p.Asn151Ser No assertion criteria tyrosinemia type I ⚠
- p.Asn377Ser No assertion criteria tyrosinemia type I ⚠
- p.Asp184Gly No assertion criteria tyrosinemia type I ⚠
- p.Asp233Glu No assertion criteria tyrosinemia type I ⚠
- p.Asp399Ala No assertion criteria tyrosinemia type I ⚠
- p.Asp399His No assertion criteria tyrosinemia type I ⚠
- p.Asp399Val No assertion criteria tyrosinemia type I ⚠
- p.Cys408Arg No assertion criteria tyrosinemia type I ⚠
- p.Glu223Val No assertion criteria tyrosinemia type I ⚠
- p.Gly122Arg No assertion criteria tyrosinemia type I ⚠
- p.Gly161Cys No assertion criteria tyrosinemia type I ⚠
- p.Gly20Ser No assertion criteria tyrosinemia type I ⚠
- p.Gly33Asp No assertion criteria tyrosinemia type I ⚠
- p.Gly360Val No assertion criteria tyrosinemia type I ⚠
- p.Ile108= No assertion criteria tyrosinemia type I
- p.Leu195Phe No assertion criteria tyrosinemia type I ⚠
- p.Leu345Val No assertion criteria tyrosinemia type I ⚠
- p.Leu73Pro No assertion criteria tyrosinemia type I ⚠
- p.Lys57Ile No assertion criteria tyrosinemia type I ⚠
- p.Met140Leu No assertion criteria tyrosinemia type I ⚠
- p.Met228Val No assertion criteria tyrosinemia type I ⚠
- p.Met308Ile No assertion criteria tyrosinemia type I
- p.Phe272Leu No assertion criteria ⚠
- p.Phe295Ser No assertion criteria FAH-related disorder ⚠
- p.Pro187Thr No assertion criteria tyrosinemia type I ⚠
- p.Pro215Gln No assertion criteria FAH-related disorder ⚠
- p.Pro30Gln No assertion criteria tyrosinemia type I ⚠
- p.Pro342Ser No assertion criteria tyrosinemia type I ⚠
- p.Pro372Ala No assertion criteria tyrosinemia type I ⚠
- p.Pro53Ala No assertion criteria tyrosinemia type I ⚠
- p.Ser169Phe No assertion criteria hepatoblastoma ⚠
- p.Thr100del No assertion criteria tyrosinemia type I
- p.Trp262Ser No assertion criteria tyrosinemia type I ⚠
- p.Tyr159His No assertion criteria tyrosinemia type I ⚠
- p.Val263Met No assertion criteria tyrosinemia type I ⚠