SLC25A13 — 920 ClinVar variants

All ClinVar germline SLC25A13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

84 Pathogenic · 32 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 47 Conflicting · 33 Benign · 7 Benign/Likely benign · 397 Likely benign · 234 Uncertain significance

Full SLC25A13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 199

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SLC25A13 p.Val411Met Pathogenic/Likely pathogenic Multiple submitters
citrullinemia, type II, adult-onset

Predictors agree, ClinVar conflicts 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC25A13 p.Ala25Glu Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Arg455Leu Conflicting Single submitter
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Arg588Gln Conflicting Single submitter
citrullinemia
SLC25A13 p.Arg605Gln Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Glu601Lys Conflicting Single submitter
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Gly139Arg Conflicting Single submitter
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Gly363Val Conflicting Single submitter
Inborn genetic diseases
SLC25A13 p.Gly393Ser Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Ile290Thr Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Leu45Phe Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Met35Val Conflicting Single submitter
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Pro502Leu Conflicting Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Thr446Pro Conflicting Single submitter
citrullinemia
SLC25A13 p.Thr546Arg Conflicting Single submitter
citrullinemia
SLC25A13 p.Val452Ile Conflicting Single submitter
citrin deficiency
SLC25A13 p.Val637Ala Conflicting Single submitter
citrin deficiency

Predictors lean, ClinVar uncertain 123

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

SLC25A13 p.Ala25Thr Uncertain significance Multiple submitters
citrullinemia, type II, adult-onset
SLC25A13 p.Ala306Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg191Cys Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Arg234Thr Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Arg292Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg383Cys Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Arg455His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg475Gln Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Arg492Gln Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Arg553Gln Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Arg571His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg585His Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Asp423Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Glu141Lys Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Gly386Ala Uncertain significance Multiple submitters
citrullinemia, type II, adult-onset
SLC25A13 p.Gly465Cys Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Gly561Arg Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Ile544Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Pro295Leu Uncertain significance Multiple submitters
SLC25A13 p.Ser212Phe Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Thr152Ala Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Tyr330His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Val474Met Uncertain significance Multiple submitters
citrullinemia, type II, adult-onset
SLC25A13 p.Val637Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Ala149Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala163Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala173Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala258Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala308Thr Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala326Val Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala329Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala338Pro Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala438Val Uncertain significance Single submitter
citrullinemia type II
SLC25A13 p.Ala470Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala509Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala554Thr Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala577Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala648Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala648Val Uncertain significance Single submitter
SLC25A13 p.Ala670Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Arg184Gln Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Arg284His Uncertain significance Single submitter
SLC25A13 p.Arg355Leu Uncertain significance Single submitter
SLC25A13 p.Arg360Gln Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Arg475Trp Uncertain significance Single submitter
SLC25A13 p.Arg492Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Arg553Pro Uncertain significance Single submitter
SLC25A13 p.Arg588Leu Uncertain significance Single submitter
SLC25A13 p.Asn38Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Asn447Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Asn652Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Asp423Tyr Uncertain significance Single submitter
SLC25A13 p.Asp635Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Cys489Arg Uncertain significance Single submitter
SLC25A13 p.Gln457His Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Glu161Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Glu231Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Glu231Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Glu327Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gly117Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gly139Glu Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly478Glu Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly527Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gly555Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gly674Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.His421Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ile181Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ile27Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ile27Val Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ile349Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ile499Val Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ile650Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Leu45Trp Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Leu471Val Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Leu598Met Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Lys10Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Lys453Asn Uncertain significance Single submitter
SLC25A13 p.Phe127Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Phe48Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Phe593Leu Uncertain significance Single submitter
SLC25A13 p.Pro502Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Pro540Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Pro630His Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Pro632Leu Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Pro632Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Pro675Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ser441Phe Uncertain significance Single submitter
SLC25A13 p.Ser664Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Thr119Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Thr120Ala Uncertain significance Single submitter
SLC25A13 p.Thr179Ala Uncertain significance Single submitter
SLC25A13 p.Thr211Ile Uncertain significance Single submitter
SLC25A13 p.Tyr219His Uncertain significance Single submitter
citrullinemia, type II, adult-onset
SLC25A13 p.Tyr237Cys Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Tyr384Phe Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Tyr483Cys Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Tyr504Cys Uncertain significance Single submitter
citrullinemia
SLC25A13 p.Val194Ile Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Val199Ile Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Val415Met Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Val474Leu Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Val507Met Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Val637Leu Uncertain significance Single submitter
SLC25A13 p.Val79Ile Uncertain significance Single submitter
SLC25A13 p.Ala87Thr Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Arg282Lys Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Arg553Trp Uncertain significance No assertion criteria
SLC25A13-related disorder
SLC25A13 p.Asn628Ile Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Gln118Pro Uncertain significance No assertion criteria
adult-onset citrullinemia type I
SLC25A13 p.Gln604Arg Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Gln67His Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Glu450Gly Uncertain significance No assertion criteria
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Gly436Ala Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Gly71Glu Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Leu17His Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Leu390Gln Uncertain significance No assertion criteria
adult-onset citrullinemia type I
SLC25A13 p.Leu523Pro Uncertain significance No assertion criteria
SLC25A13-related disorder
SLC25A13 p.Leu578Pro Uncertain significance No assertion criteria
SLC25A13-related disorder
SLC25A13 p.Lys653Arg Uncertain significance No assertion criteria
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Phe220Leu Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Ser510Tyr Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Thr596Pro Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Val586Ile Uncertain significance No assertion criteria
citrullinemia

Predictors split 59

The independent predictors disagree with each other — read with care.

SLC25A13 p.Arg284Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg292Trp Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Arg467Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Arg571Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Glu252Lys Pathogenic/Likely pathogenic Multiple submitters
citrullinemia, type II, adult-onset
SLC25A13 p.Lys484Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Pro53Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Pro540Ser Uncertain significance Multiple submitters
citrin deficiency
SLC25A13 p.Ser225Leu Uncertain significance Multiple submitters
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Ser62Asn Uncertain significance Multiple submitters
neonatal intrahepatic cholestasis due to citrin deficiency
SLC25A13 p.Tyr608Cys Uncertain significance Multiple submitters
citrullinemia type II
SLC25A13 p.Val58Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Val65Met Uncertain significance Multiple submitters
Inborn genetic diseases
SLC25A13 p.Ala552Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ala90Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Arg170Trp Uncertain significance Single submitter
citrullinemia type II
SLC25A13 p.Arg284Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Arg284Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Asp111Gly Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Asp182Asn Uncertain significance Single submitter
SLC25A13 p.Asp246Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Asp270Gly Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Asp277Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Asp610His Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Asp635Gly Uncertain significance Single submitter
SLC25A13 p.Gln259His Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gln556Arg Uncertain significance Single submitter
SLC25A13 p.Gly103Asp Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly283Ala Uncertain significance Single submitter
SLC25A13-related disorder
SLC25A13 p.Gly283Glu Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly31Ser Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly424Asp Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Gly638Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Gly639Asp Uncertain significance Single submitter
SLC25A13 p.Gly649Arg Conflicting Single submitter
citrullinemia type II
SLC25A13 p.His213Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ile27Ser Conflicting Single submitter
citrin deficiency
SLC25A13 p.Ile407Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Lys23Asn Uncertain significance Single submitter
SLC25A13 p.Met187Val Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Met230Val Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Phe273Leu Uncertain significance Single submitter
SLC25A13 p.Phe419Cys Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Pro37Arg Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Pro88Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ser336Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Ser36Cys Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ser425Leu Conflicting Single submitter
citrin deficiency
SLC25A13 p.Ser522Cys Uncertain significance Single submitter
SLC25A13-related disorder
SLC25A13 p.Thr646Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC25A13 p.Trp606Cys Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Val264Ile Conflicting Single submitter
citrin deficiency
SLC25A13 p.Val58Ala Uncertain significance Single submitter
citrin deficiency
SLC25A13 p.Ala577Ser Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Asn228Lys Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Asp515Val Uncertain significance No assertion criteria
SLC25A13-related disorder
SLC25A13 p.Ile190Thr Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Ser364Phe Uncertain significance No assertion criteria
citrullinemia
SLC25A13 p.Tyr384Ser Uncertain significance No assertion criteria
citrullinemia

All SLC25A13 variants

Pathogenic 84

c.1177+1G>A Multiple submitters citrullinemia, type II, adult-onset
c.1230+1G>C Multiple submitters citrullinemia
c.1311+1G>A Multiple submitters citrullinemia
c.1311+1G>C Multiple submitters citrin deficiency
c.1453-1G>A Multiple submitters citrullinemia
c.1453-2A>T Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
c.615+1G>A Multiple submitters citrin deficiency
c.615+5G>A Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Ala459fs Multiple submitters citrullinemia
p.Ala554fs Multiple submitters SLC25A13-related disorder
p.Arg184Ter Multiple submitters citrullinemia, type II, adult-onset
p.Arg319Ter Multiple submitters citrullinemia
p.Arg355Gln Multiple submitters citrullinemia, type II, adult-onset
p.Arg355Gly Multiple submitters citrullinemia, type II, adult-onset
p.Arg355Ter Multiple submitters SLC25A13-related disorder
p.Arg467Ter Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Arg571fs Multiple submitters citrin deficiency
p.Gln159Ter Multiple submitters citrin deficiency
p.Gln165Ter Multiple submitters citrullinemia, type II, adult-onset
p.Gln259Ter Multiple submitters citrullinemia, type II, adult-onset
p.Gln359Ter Multiple submitters SLC25A13-related disorder
p.Glu601Ter Multiple submitters citrullinemia, type II, adult-onset
p.Leu399Ter Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Leu598Arg Multiple submitters citrullinemia type II
p.Met285fs Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Phe365fs Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Ser225Ter Multiple submitters citrullinemia
p.Tyr600Ter Multiple submitters citrullinemia
c.1177+1G>T Single submitter citrullinemia
c.1230+1G>A Single submitter citrin deficiency
c.1230+2T>A Single submitter citrullinemia
c.1311+2T>G Single submitter citrullinemia
c.1453-2A>G Single submitter citrin deficiency
c.1751-5_1751-4insGATTTCTCCA Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC Single submitter citrin deficiency
c.69+5G>A Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
c.70-12_72del Single submitter citrin deficiency
c.755-2A>G Single submitter citrullinemia, type II, adult-onset
c.848+1G>A Single submitter citrin deficiency
p.Ala294fs Single submitter citrin deficiency
p.Arg184fs Single submitter citrin deficiency
p.Arg392Ter Single submitter citrin deficiency
p.Asn229fs Single submitter citrin deficiency
p.Asn38fs Single submitter citrin deficiency
p.Gln153Ter Single submitter citrin deficiency
p.Gln214Ter Single submitter citrin deficiency
p.Gln263Ter Single submitter citrin deficiency
p.Gln442Ter Single submitter citrin deficiency
p.Glu141fs Single submitter citrin deficiency
p.Glu307Ter Single submitter citrin deficiency
p.Glu327fs Single submitter citrin deficiency
p.Glu327Ter Single submitter citrin deficiency
p.Glu32Ter Single submitter citrin deficiency
p.Glu59fs Single submitter citrin deficiency
p.Gly139fs Single submitter citrin deficiency
p.Gly436Asp Single submitter citrin deficiency
p.His122fs Single submitter citrin deficiency
p.Ile544fs Single submitter
p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter citrin deficiency
p.Leu398fs Single submitter citrin deficiency
p.Leu398Ter Single submitter citrullinemia, type II, adult-onset
p.Leu537_Val538insTer Single submitter citrin deficiency
p.Leu537fs Single submitter citrin deficiency
p.Leu548fs Single submitter citrin deficiency
p.Leu548Ter Single submitter citrin deficiency
p.Lys10fs Single submitter citrin deficiency
p.Met420fs Single submitter citrin deficiency
p.Phe388fs Single submitter citrin deficiency
p.Phe496fs Single submitter citrin deficiency
p.Ser51fs Single submitter citrin deficiency
p.Ser536_Leu537insTer Single submitter citrin deficiency
p.Thr179fs Single submitter citrin deficiency
p.Thr265fs Single submitter citrin deficiency
p.Thr344fs Single submitter citrin deficiency
p.Thr410fs Single submitter citrin deficiency
p.Thr42fs Single submitter citrin deficiency
p.Trp579Ter Single submitter citrullinemia, type II, adult-onset
p.Tyr44Ter Single submitter citrin deficiency
p.Tyr483Ter Single submitter citrin deficiency
p.Val204_Ala205insTer Single submitter citrin deficiency
p.Val473fs Single submitter citrin deficiency
p.Val58fs Single submitter citrin deficiency
c.70-63_132del No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency
p.Ala166fs No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency

Pathogenic/Likely pathogenic 32

c.1231-1G>A Multiple submitters citrullinemia, type II, adult-onset
c.1453-1G>C Multiple submitters citrullinemia, type II, adult-onset
c.16-2A>G Multiple submitters citrin deficiency
c.70-1G>A Multiple submitters citrullinemia, type II, adult-onset
c.848+1del Multiple submitters citrullinemia, type II, adult-onset
c.848+1G>T Multiple submitters citrullinemia, type II, adult-onset
c.848+3A>C Multiple submitters citrin deficiency
p.Ala541Asp Multiple submitters citrin deficiency
p.Arg144fs Multiple submitters citrullinemia, type II, adult-onset
p.Arg177fs Multiple submitters citrin deficiency
p.Arg191fs Multiple submitters citrullinemia, type II, adult-onset
p.Arg360Ter Multiple submitters citrullinemia, type II, adult-onset
p.Arg43Ter Multiple submitters SLC25A13-related disorder
p.Arg588Ter Multiple submitters citrin deficiency
p.Arg605Ter Multiple submitters citrullinemia
p.Asn30fs Multiple submitters citrin deficiency
p.Asp350Asn Multiple submitters citrullinemia, type II, adult-onset
p.Cys437Ter Multiple submitters citrullinemia, type II, adult-onset
p.Gln324Ter Multiple submitters citrullinemia, type II, adult-onset
p.Gln556fs Multiple submitters citrullinemia, type II, adult-onset
p.Glu106Ter Multiple submitters citrin deficiency
p.Glu252Lys Multiple submitters citrullinemia, type II, adult-onset ⚠
p.Glu77Ter Multiple submitters citrullinemia
p.His193fs Multiple submitters citrullinemia, type II, adult-onset
p.Lys23fs Multiple submitters citrullinemia
p.Phe92fs Multiple submitters citrin deficiency
p.Ser590Ter Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Tyr330Ter Multiple submitters citrin deficiency
p.Tyr391Ter Multiple submitters citrullinemia, type II, adult-onset
p.Tyr559Ter Multiple submitters citrullinemia, type II, adult-onset
p.Val204fs Multiple submitters citrin deficiency
p.Val411Met Multiple submitters citrullinemia, type II, adult-onset ⚠

Likely pathogenic 86

c.1178-1G>C Multiple submitters citrin deficiency
c.1178-1G>T Multiple submitters citrullinemia, type II, adult-onset
c.1452+1G>A Multiple submitters citrin deficiency
c.1591+1G>A Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
c.1750+1G>C Multiple submitters citrullinemia
c.934-2A>T Multiple submitters citrullinemia
p.Gln311Ter Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency
p.Gln357Ter Multiple submitters citrullinemia
p.Glu404Ter Multiple submitters citrullinemia type II
p.Gly436Glu Multiple submitters citrullinemia type II
p.Gly531Asp Multiple submitters citrullinemia
p.Phe254fs Multiple submitters citrullinemia
p.Thr539fs Multiple submitters citrullinemia, type II, adult-onset
p.Thr546Met Multiple submitters citrullinemia type II
p.Trp606Ter Multiple submitters citrullinemia
p.Tyr24Ter Multiple submitters citrullinemia
c.1176_1177+1delinsT Single submitter citrullinemia, type II, adult-onset
c.1311+2dup Single submitter citrullinemia, type II, adult-onset
c.1592-2A>T Single submitter citrullinemia
c.16-2A>T Single submitter citrullinemia
c.1750+1G>A Single submitter citrullinemia
c.1750+1G>T Single submitter citrullinemia, type II, adult-onset
c.1750+2T>C Single submitter citrin deficiency
c.1841+1G>T Single submitter citrullinemia, type II, adult-onset
c.1841+3_1841+4del Single submitter citrin deficiency
c.212+1G>A Single submitter citrullinemia
c.213-1G>C Single submitter citrullinemia, type II, adult-onset
c.213-2A>C Single submitter citrin deficiency
c.213-2A>G Single submitter citrin deficiency
c.328+1G>C Single submitter citrullinemia
c.328+1G>T Single submitter citrin deficiency
c.329-1G>A Single submitter citrin deficiency
c.329-2A>G Single submitter citrin deficiency
c.468+1G>C Single submitter citrullinemia, type II, adult-onset
c.468+4958_502del Single submitter citrullinemia, type II, adult-onset
c.468+5G>A Single submitter
c.469-2A>G Single submitter citrin deficiency
c.616-2del Single submitter citrin deficiency
c.70-1G>T Single submitter citrin deficiency
c.70-2A>T Single submitter citrullinemia, type II, adult-onset
c.755-1G>C Single submitter citrin deficiency
p.Arg234fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Arg392_Gly393delinsCys Single submitter citrullinemia, type II, adult-onset
p.Arg475fs Single submitter citrullinemia
p.Arg492Trp Single submitter citrin deficiency
p.Arg553fs Single submitter citrullinemia
p.Asn224fs Single submitter citrullinemia, type II, adult-onset
p.Asp111fs Single submitter citrullinemia, type II, adult-onset
p.Asp89fs Single submitter citrullinemia, type II, adult-onset
p.Gln118fs Single submitter citrullinemia, type II, adult-onset
p.Gln169Ter Single submitter citrullinemia, type II, adult-onset
p.Gln274fs Single submitter citrullinemia
p.Gln309Ter Single submitter citrullinemia, type II, adult-onset
p.Gln517Ter Single submitter citrullinemia, type II, adult-onset
p.Glu297fs Single submitter citrullinemia, type II, adult-onset
p.Glu368Ter Single submitter citrullinemia
p.Glu404fs Single submitter
p.Glu431Ter Single submitter citrullinemia
p.Glu77fs Single submitter citrullinemia, type II, adult-onset
p.Gly386Val Single submitter citrullinemia
p.Gly439Arg Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Gly439Glu Single submitter citrin deficiency
p.Gly460Ter Single submitter citrullinemia
p.Gly594Asp Single submitter citrin deficiency
p.Ile349Thr Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Ile563fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Ile609fs Single submitter citrullinemia, type II, adult-onset
p.Leu278_Tyr279insTer Single submitter citrullinemia, type II, adult-onset
p.Lys143Ter Single submitter citrullinemia
p.Met370fs Single submitter citrullinemia, type II, adult-onset
p.Pro197fs Single submitter citrullinemia, type II, adult-onset
p.Pro88fs Single submitter citrullinemia
p.Ser374fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Ser74fs Single submitter citrullinemia, type II, adult-onset
p.Ser83fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Thr546fs Single submitter citrullinemia, type II, adult-onset
p.Thr599fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Tyr347fs Single submitter citrullinemia, type II, adult-onset
p.Tyr371Ter Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Tyr500fs Single submitter citrullinemia, type II, adult-onset
p.Val255fs Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Val562fs Single submitter citrullinemia
p.Val6fs Single submitter citrullinemia
p.Ala670fs No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency
p.Leu597fs No assertion criteria SLC25A13-related disorder
p.Val381fs No assertion criteria SLC25A13-related disorder

Conflicting classifications of pathogenicity 47

c.1019-6T>C Single submitter citrin deficiency
c.1177+8C>T Single submitter citrin deficiency
c.1230+11T>C Single submitter citrullinemia type II
c.1311+3A>G Single submitter citrin deficiency
c.1591+7G>A Single submitter citrin deficiency
c.16-4A>G Single submitter citrin deficiency
c.1751-5del Single submitter citrin deficiency
c.848+9G>T Single submitter citrin deficiency
p.Ala25Glu Single submitter citrullinemia, type II, adult-onset ⚠
p.Ala294= Single submitter citrin deficiency
p.Arg455Leu Single submitter neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Arg588Gln Single submitter citrullinemia ⚠
p.Arg605Gln Single submitter citrullinemia, type II, adult-onset ⚠
p.Asn30= Single submitter citrin deficiency
p.Asn412= Single submitter citrin deficiency
p.Cys565= Single submitter citrin deficiency
p.Glu252= Single submitter citrin deficiency
p.Glu601Lys Single submitter neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Gly139Arg Single submitter neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Gly363Val Single submitter Inborn genetic diseases ⚠
p.Gly393Ser Single submitter citrullinemia, type II, adult-onset ⚠
p.Gly478= Single submitter citrin deficiency
p.Gly516= Single submitter citrin deficiency
p.Gly555= Single submitter citrin deficiency
p.Gly649Arg Single submitter citrullinemia type II ⚠
p.His162= Single submitter citrin deficiency
p.Ile27Ser Single submitter citrin deficiency ⚠
p.Ile290Thr Single submitter citrullinemia, type II, adult-onset ⚠
p.Leu136= Single submitter citrullinemia type II
p.Leu45Phe Single submitter citrullinemia, type II, adult-onset ⚠
p.Met35Val Single submitter neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Pro320= Single submitter citrin deficiency
p.Pro502= Single submitter citrin deficiency
p.Pro502Leu Single submitter citrullinemia, type II, adult-onset ⚠
p.Ser425= Single submitter citrullinemia type II
p.Ser425Leu Single submitter citrin deficiency ⚠
p.Ser560= Single submitter citrin deficiency
p.Thr410= Single submitter citrullinemia type II
p.Thr446Pro Single submitter citrullinemia ⚠
p.Thr546Arg Single submitter citrullinemia ⚠
p.Tyr237= Single submitter citrullinemia type II
p.Tyr600= Single submitter citrin deficiency
p.Tyr608= Single submitter citrin deficiency
p.Val264Ile Single submitter citrin deficiency ⚠
p.Val452Ile Single submitter citrin deficiency ⚠
p.Val473= Single submitter citrin deficiency
p.Val637Ala Single submitter citrin deficiency ⚠

Benign 33

c.1019-84G>A Multiple submitters
c.1312-67T>A Multiple submitters
c.1452+19del Multiple submitters
c.1452+98C>G Multiple submitters
c.16-282A>G Multiple submitters
c.328+6A>G Multiple submitters citrullinemia, type II, adult-onset
c.329-42T>G Multiple submitters
c.69+45C>G Multiple submitters
c.848+28del Multiple submitters
c.933+131C>A Multiple submitters
c.933+162G>A Multiple submitters
p.Gly31= Multiple submitters citrin deficiency
p.Val458= Multiple submitters citrin deficiency
c.1177+17C>G Single submitter citrin deficiency
c.1178-173G>A Single submitter
c.1231-106A>G Single submitter
c.1312-12del Single submitter citrin deficiency
c.1312-141G>A Single submitter
c.1452+160G>A Single submitter
c.1452+19dup Single submitter
c.212+14del Single submitter citrin deficiency
c.213-10dup Single submitter citrin deficiency
c.328+141A>G Single submitter
c.328+6= Single submitter
c.329-17G>C Single submitter citrin deficiency
c.329-4dup Single submitter citrin deficiency
c.468+285G>A Single submitter
c.70-14dup Single submitter citrin deficiency
c.70-7del Single submitter citrin deficiency
c.754+202A>G Single submitter
c.848+27_848+28del Single submitter
p.Ala102= Single submitter citrin deficiency
p.Pro192= Single submitter citrin deficiency

Benign/Likely benign 7

c.1842-12C>A Multiple submitters citrin deficiency
c.615+36T>C Multiple submitters
c.*175A>G Multiple submitters citrullinemia type II
p.Asn628= Multiple submitters citrin deficiency
p.Leu398= Multiple submitters citrullinemia, type II, adult-onset
p.Thr557= Multiple submitters citrin deficiency
c.848+8G>T No assertion criteria

Likely benign 397

Showing the top 300 by review status; the full set is in the sitemap.

c.1018+46T>G Multiple submitters
c.1177+93G>A Multiple submitters
c.15+240A>G Multiple submitters
c.1591+10C>G Multiple submitters citrin deficiency
c.1591+19G>A Multiple submitters citrin deficiency
c.1592-13_1592-12del Multiple submitters citrin deficiency
c.1592-79G>A Multiple submitters
c.1841+11T>C Multiple submitters citrin deficiency
c.212+16A>C Multiple submitters citrin deficiency
c.212+70A>G Multiple submitters
c.468+19_468+20insT Multiple submitters citrin deficiency
c.615+68A>G Multiple submitters
c.69+36A>G Multiple submitters
c.70-171G>A Multiple submitters
c.849-4A>G Multiple submitters citrin deficiency
c.933+211C>G Multiple submitters
p.Leu390= Multiple submitters citrin deficiency
p.Pro266= Multiple submitters citrin deficiency
p.Pro632= Multiple submitters citrin deficiency
c.1018+11G>A Single submitter citrin deficiency
c.1018+17del Single submitter citrin deficiency
c.1018+31T>C Single submitter
c.1018+7C>T Single submitter citrin deficiency
c.1018+8A>G Single submitter citrin deficiency
c.1018+9T>C Single submitter citrin deficiency
c.1019-12G>A Single submitter citrin deficiency
c.1019-20A>G Single submitter citrin deficiency
c.1019-7A>C Single submitter citrin deficiency
c.1177+12A>G Single submitter citrin deficiency
c.1177+155C>T Single submitter
c.1177+15C>G Single submitter citrin deficiency
c.1177+17C>T Single submitter citrin deficiency
c.1177+7G>A Single submitter citrin deficiency
c.1178-13T>C Single submitter citrin deficiency
c.1178-19A>G Single submitter citrin deficiency
c.1178-237T>C Single submitter
c.1230+15T>G Single submitter citrin deficiency
c.1230+18G>A Single submitter citrin deficiency
c.1230+18G>C Single submitter citrin deficiency
c.1230+20G>A Single submitter citrin deficiency
c.1230+20G>C Single submitter citrin deficiency
c.1230+7C>G Single submitter citrin deficiency
c.1231-14T>A Single submitter citrin deficiency
c.1231-19A>G Single submitter citrin deficiency
c.1231-20T>A Single submitter citrin deficiency
c.1311+8C>G Single submitter citrin deficiency
c.1311+8C>T Single submitter citrin deficiency
c.1311+9C>T Single submitter citrin deficiency
c.1312-11G>C Single submitter citrin deficiency
c.1312-133T>C Single submitter
c.1312-13T>C Single submitter citrin deficiency
c.1312-20del Single submitter citrin deficiency
c.1452+13T>G Single submitter citrin deficiency
c.1452+18_1452+19del Single submitter
c.1452+18T>G Single submitter citrin deficiency
c.1452+19T>G Single submitter citrin deficiency
c.1452+20A>T Single submitter citrin deficiency
c.1452+20del Single submitter citrin deficiency
c.1452+9_1452+10insG Single submitter citrin deficiency
c.1453-11C>T Single submitter citrin deficiency
c.1453-17C>A Single submitter citrin deficiency
c.1453-4G>T Single submitter citrin deficiency
c.1453-5T>C Single submitter citrin deficiency
c.1453-7T>C Single submitter citrin deficiency
c.1591+10C>A Single submitter citrin deficiency
c.1591+10C>T Single submitter citrin deficiency
c.1591+11C>T Single submitter citrin deficiency
c.1591+13C>A Single submitter citrin deficiency
c.1591+14A>G Single submitter citrin deficiency
c.1591+17G>A Single submitter citrin deficiency
c.1591+56C>T Single submitter
c.1591+9C>G Single submitter citrin deficiency
c.1591+9C>T Single submitter citrin deficiency
c.1592-13G>A Single submitter citrin deficiency
c.1592-14T>C Single submitter citrin deficiency
c.1592-15G>T Single submitter citrin deficiency
c.1592-20G>T Single submitter citrin deficiency
c.1592-4G>A Single submitter citrin deficiency
c.1592-4G>T Single submitter citrin deficiency
c.1592-6C>T Single submitter citrin deficiency
c.1592-7C>T Single submitter citrin deficiency
c.1592-9C>G Single submitter citrin deficiency
c.1592-9C>T Single submitter citrin deficiency
c.16-10T>C Single submitter citrin deficiency
c.16-12G>A Single submitter citrin deficiency
c.16-12G>T Single submitter citrin deficiency
c.16-14_16-13del Single submitter citrin deficiency
c.16-174G>T Single submitter
c.16-4A>T Single submitter citrin deficiency
c.16-8A>G Single submitter citrin deficiency
c.1750+13T>C Single submitter citrin deficiency
c.1750+14G>A Single submitter citrin deficiency
c.1750+16G>A Single submitter citrin deficiency
c.1750+18T>C Single submitter citrin deficiency
c.1750+19C>A Single submitter citrin deficiency
c.1750+8A>T Single submitter citrin deficiency
c.1751-12_1751-10del Single submitter citrin deficiency
c.1751-12A>G Single submitter citrin deficiency
c.1751-14C>T Single submitter citrin deficiency
c.1751-21G>A Single submitter citrin deficiency
c.1751-22T>C Single submitter citrin deficiency
c.1751-23G>T Single submitter citrin deficiency
c.1751-24T>C Single submitter citrin deficiency
c.1751-26T>C Single submitter citrin deficiency
c.1751-27A>G Single submitter citrin deficiency
c.1751-27A>T Single submitter citrin deficiency
c.1751-28T>C Single submitter citrin deficiency
c.1751-29A>G Single submitter citrin deficiency
c.1751-4_1751-3insT Single submitter citrin deficiency
c.1751-7T>C Single submitter citrin deficiency
c.1751-9T>C Single submitter citrin deficiency
c.1751-9T>G Single submitter citrin deficiency
c.1841+12G>C Single submitter citrin deficiency
c.1841+13C>A Single submitter citrin deficiency
c.1841+17A>G Single submitter citrin deficiency
c.1841+18T>C Single submitter citrin deficiency
c.1841+19C>T Single submitter citrin deficiency
c.1841+9C>T Single submitter citrin deficiency
c.212+13T>G Single submitter citrin deficiency
c.213-14_213-10del Single submitter citrin deficiency
c.213-19T>C Single submitter citrin deficiency
c.213-20A>G Single submitter citrin deficiency
c.213-4G>C Single submitter citrin deficiency
c.213-7G>T Single submitter citrin deficiency
c.328+10A>G Single submitter citrin deficiency
c.328+14T>C Single submitter citrin deficiency
c.328+14T>G Single submitter citrin deficiency
c.328+18G>A Single submitter citrin deficiency
c.328+7A>G Single submitter citrin deficiency
c.328+8G>A Single submitter citrin deficiency
c.328+8G>T Single submitter
c.329-11T>C Single submitter citrin deficiency
c.329-13T>C Single submitter citrin deficiency
c.329-16T>C Single submitter citrin deficiency
c.329-20C>G Single submitter citrin deficiency
c.468+10G>C Single submitter citrin deficiency
c.468+11C>A Single submitter citrin deficiency
c.468+11C>T Single submitter citrin deficiency
c.468+16A>C Single submitter citrin deficiency
c.468+7C>T Single submitter citrin deficiency
c.468+8T>A Single submitter citrin deficiency
c.469-12_469-9del Single submitter citrin deficiency
c.469-12C>A Single submitter citrin deficiency
c.469-13del Single submitter citrin deficiency
c.469-13T>G Single submitter citrin deficiency
c.469-14T>A Single submitter citrin deficiency
c.469-17A>C Single submitter citrin deficiency
c.469-17A>G Single submitter citrin deficiency
c.469-17A>T Single submitter citrin deficiency
c.469-19T>C Single submitter citrin deficiency
c.615+13T>C Single submitter citrin deficiency
c.615+15G>T Single submitter citrin deficiency
c.615+19T>C Single submitter citrin deficiency
c.615+20A>C Single submitter citrin deficiency
c.615+8G>A Single submitter citrin deficiency
c.615+8G>T Single submitter citrin deficiency
c.616-15T>C Single submitter citrin deficiency
c.69+12G>A Single submitter citrin deficiency
c.69+15A>G Single submitter citrin deficiency
c.69+7A>G Single submitter citrin deficiency
c.70-13T>G Single submitter citrin deficiency
c.70-17T>A Single submitter citrin deficiency
c.70-18T>C Single submitter citrin deficiency
c.70-4dup Single submitter citrin deficiency
c.70-7T>A Single submitter citrin deficiency
c.70-7T>C Single submitter citrin deficiency
c.754+10A>C Single submitter citrin deficiency
c.754+11A>G Single submitter
c.754+13A>T Single submitter citrin deficiency
c.754+16T>G Single submitter citrin deficiency
c.754+17C>T Single submitter citrin deficiency
c.754+8A>C Single submitter citrin deficiency
c.755-10T>C Single submitter citrin deficiency
c.755-15T>G Single submitter citrin deficiency
c.755-235C>G Single submitter
c.755-24_755-3del Single submitter citrin deficiency
c.755-297G>C Single submitter
c.755-5T>C Single submitter citrin deficiency
c.755-6A>G Single submitter citrin deficiency
c.755-7C>G Single submitter citrin deficiency
c.848+10C>G Single submitter citrin deficiency
c.848+12T>C Single submitter citrin deficiency
c.848+13T>C Single submitter citrin deficiency
c.848+15T>C Single submitter citrin deficiency
c.848+15T>G Single submitter citrin deficiency
c.848+8G>A Single submitter citrin deficiency
c.848+9G>A Single submitter citrin deficiency
c.849-12T>C Single submitter citrin deficiency
c.849-6C>T Single submitter citrin deficiency
c.849-8C>T Single submitter citrin deficiency
c.849-9C>G Single submitter citrin deficiency
c.933+10G>T Single submitter citrin deficiency
c.933+12G>A Single submitter citrin deficiency
c.934-11A>C Single submitter citrin deficiency
c.934-11A>G Single submitter citrin deficiency
c.934-123T>C Single submitter
c.934-16T>C Single submitter citrin deficiency
c.934-30T>C Single submitter
c.934-7A>G Single submitter citrin deficiency
c.*570G>A Single submitter citrullinemia type II
c.*679_*684del Single submitter
c.*792C>T Single submitter citrullinemia type II
p.Ala12= Single submitter citrin deficiency
p.Ala15= Single submitter citrin deficiency
p.Ala241= Single submitter
p.Ala25= Single submitter citrin deficiency
p.Ala288= Single submitter citrin deficiency
p.Ala326= Single submitter citrin deficiency
p.Ala329= Single submitter citrin deficiency
p.Ala340= Single submitter citrin deficiency
p.Ala343= Single submitter citrin deficiency
p.Ala402= Single submitter citrin deficiency
p.Ala459= Single submitter citrin deficiency
p.Ala470= Single submitter citrin deficiency
p.Ala470_Leu471= Single submitter citrin deficiency
p.Ala488= Single submitter citrin deficiency
p.Ala498= Single submitter citrin deficiency
p.Ala505= Single submitter citrin deficiency
p.Ala526= Single submitter citrin deficiency
p.Ala534= Single submitter citrin deficiency
p.Ala535= Single submitter citrin deficiency
p.Ala551= Single submitter citrin deficiency
p.Ala552= Single submitter citrin deficiency
p.Ala554= Single submitter citrin deficiency
p.Ala645= Single submitter citrin deficiency
p.Ala648= Single submitter citrin deficiency
p.Ala7= Single submitter citrin deficiency
p.Ala90= Single submitter citrin deficiency
p.Arg170= Single submitter citrin deficiency
p.Arg177Lys Single submitter Inborn genetic diseases
p.Arg191= Single submitter citrin deficiency
p.Arg244= Single submitter citrin deficiency
p.Arg292= Single submitter citrin deficiency
p.Arg310= Single submitter citrin deficiency
p.Arg319= Single submitter citrin deficiency
p.Arg360= Single submitter citrin deficiency
p.Arg416= Single submitter citrin deficiency
p.Arg43= Single submitter citrin deficiency
p.Arg475= Single submitter citrin deficiency
p.Arg553= Single submitter citrin deficiency
p.Asn221= Single submitter citrin deficiency
p.Asn513Ser Single submitter
p.Asp111= Single submitter citrin deficiency
p.Asp39= Single submitter citrin deficiency
p.Asp417= Single submitter citrin deficiency
p.Asp423= Single submitter citrin deficiency
p.Asp635= Single submitter citrin deficiency
p.Asp635Tyr Single submitter citrin deficiency
p.Cys202= Single submitter citrin deficiency
p.Cys489= Single submitter citrin deficiency
p.Cys503= Single submitter citrin deficiency
p.Gln118= Single submitter citrin deficiency
p.Gln159= Single submitter citrin deficiency
p.Gln169= Single submitter citrin deficiency
p.Gln274= Single submitter citrin deficiency
p.Gln359= Single submitter citrin deficiency
p.Gln457= Single submitter
p.Gln549= Single submitter citrin deficiency
p.Gln556= Single submitter citrin deficiency
p.Gln604= Single submitter citrin deficiency
p.Gln67= Single submitter citrin deficiency
p.Glu157= Single submitter citrin deficiency
p.Glu16= Single submitter citrin deficiency
p.Glu161= Single submitter citrin deficiency
p.Glu231= Single submitter citrin deficiency
p.Glu248= Single submitter citrin deficiency
p.Glu28= Single submitter citrin deficiency
p.Glu291= Single submitter citrin deficiency
p.Glu368= Single submitter citrin deficiency
p.Glu77= Single submitter citrin deficiency
p.Gly176= Single submitter citrin deficiency
p.Gly208= Single submitter citrin deficiency
p.Gly222= Single submitter citrin deficiency
p.Gly333= Single submitter citrin deficiency
p.Gly386= Single submitter citrin deficiency
p.Gly527= Single submitter citrin deficiency
p.Gly531= Single submitter citrin deficiency
p.Gly574= Single submitter citrin deficiency
p.Gly618= Single submitter citrin deficiency
p.Gly639= Single submitter citrin deficiency
p.His421= Single submitter citrin deficiency
p.His636= Single submitter citrin deficiency
p.Ile181= Single submitter citrin deficiency
p.Ile186= Single submitter citrin deficiency
p.Ile190= Single submitter citrin deficiency
p.Ile20= Single submitter citrin deficiency
p.Ile27= Single submitter citrin deficiency
p.Ile349= Single submitter citrin deficiency
p.Ile451= Single submitter citrin deficiency
p.Ile454= Single submitter citrin deficiency
p.Ile563= Single submitter citrin deficiency
p.Ile671= Single submitter citrin deficiency
p.Leu146= Single submitter citrin deficiency
p.Leu156= Single submitter citrin deficiency
p.Leu203= Single submitter citrin deficiency
p.Leu22= Single submitter citrin deficiency
p.Leu226= Single submitter citrin deficiency
p.Leu240= Single submitter citrin deficiency
p.Leu256= Single submitter citrin deficiency
p.Leu272= Single submitter citrin deficiency

Uncertain significance 234

c.69+5G>C Multiple submitters citrin deficiency
p.Ala163Thr Multiple submitters Inborn genetic diseases
p.Ala25Thr Multiple submitters citrullinemia, type II, adult-onset ⚠
p.Ala306Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg191Cys Multiple submitters citrullinemia type II ⚠
p.Arg234Thr Multiple submitters citrullinemia type II ⚠
p.Arg284Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg292Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg292Trp Multiple submitters citrin deficiency ⚠
p.Arg383Cys Multiple submitters citrin deficiency ⚠
p.Arg455His Multiple submitters Inborn genetic diseases ⚠
p.Arg467Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg475Gln Multiple submitters citrin deficiency ⚠
p.Arg492Gln Multiple submitters citrin deficiency ⚠
p.Arg553Gln Multiple submitters citrullinemia type II ⚠
p.Arg571Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg571His Multiple submitters Inborn genetic diseases ⚠
p.Arg585His Multiple submitters citrin deficiency ⚠
p.Asp423Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys437= Multiple submitters citrin deficiency
p.Glu141Lys Multiple submitters citrin deficiency ⚠
p.Gly386Ala Multiple submitters citrullinemia, type II, adult-onset ⚠
p.Gly465Cys Multiple submitters citrullinemia type II ⚠
p.Gly516Glu Multiple submitters Inborn genetic diseases
p.Gly561Arg Multiple submitters citrin deficiency ⚠
p.Ile544Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys484Arg Multiple submitters Inborn genetic diseases ⚠
p.Phe480Leu Multiple submitters Inborn genetic diseases
p.Pro295Leu Multiple submitters ⚠
p.Pro53Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro540Ser Multiple submitters citrin deficiency ⚠
p.Ser212Phe Multiple submitters citrullinemia type II ⚠
p.Ser225Leu Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Ser472Phe Multiple submitters Inborn genetic diseases
p.Ser62Asn Multiple submitters neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Thr152Ala Multiple submitters citrin deficiency ⚠
p.Tyr330His Multiple submitters Inborn genetic diseases ⚠
p.Tyr608Cys Multiple submitters citrullinemia type II ⚠
p.Val474Met Multiple submitters citrullinemia, type II, adult-onset ⚠
p.Val58Met Multiple submitters Inborn genetic diseases ⚠
p.Val637Ile Multiple submitters Inborn genetic diseases ⚠
p.Val65Met Multiple submitters Inborn genetic diseases ⚠
c.1018+3T>C Single submitter
c.1177+5G>A Single submitter citrullinemia type II
c.1231-11T>G Single submitter citrin deficiency
c.1452+4A>G Single submitter
c.1452+5C>G Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
c.1452+7T>C Single submitter
c.1453-3C>T Single submitter citrin deficiency
c.1591+4A>G Single submitter citrin deficiency
c.1666_1842-31del Single submitter citrin deficiency
c.934-3C>T Single submitter citrin deficiency
c.*191T>C Single submitter citrullinemia type II
c.*280G>T Single submitter citrullinemia type II
c.*310C>T Single submitter citrullinemia type II
c.*330G>T Single submitter citrullinemia type II
c.*40C>T Single submitter citrullinemia type II
c.*507T>C Single submitter citrullinemia type II
c.*517A>G Single submitter citrullinemia type II
c.*622C>T Single submitter citrullinemia type II
c.*729G>A Single submitter citrullinemia type II
c.*72G>A Single submitter citrullinemia type II
c.*750T>C Single submitter citrullinemia type II
c.*881T>G Single submitter citrullinemia type II
c.*909C>G Single submitter citrullinemia type II
c.*93G>A Single submitter citrullinemia type II
p.Ala149Val Single submitter Inborn genetic diseases ⚠
p.Ala163Glu Single submitter Inborn genetic diseases ⚠
p.Ala173Ser Single submitter citrin deficiency ⚠
p.Ala205Val Single submitter citrin deficiency
p.Ala258Asp Single submitter Inborn genetic diseases ⚠
p.Ala308Thr Single submitter citrin deficiency ⚠
p.Ala326Val Single submitter citrin deficiency ⚠
p.Ala329Thr Single submitter Inborn genetic diseases ⚠
p.Ala338Pro Single submitter citrin deficiency ⚠
p.Ala438Val Single submitter citrullinemia type II ⚠
p.Ala470Thr Single submitter Inborn genetic diseases ⚠
p.Ala509Val Single submitter Inborn genetic diseases ⚠
p.Ala552del Single submitter citrin deficiency
p.Ala552Thr Single submitter Inborn genetic diseases ⚠
p.Ala554Thr Single submitter citrin deficiency ⚠
p.Ala577Val Single submitter Inborn genetic diseases ⚠
p.Ala648Pro Single submitter Inborn genetic diseases ⚠
p.Ala648Val Single submitter ⚠
p.Ala670Ser Single submitter citrin deficiency ⚠
p.Ala90Gly Single submitter Inborn genetic diseases ⚠
p.Arg170Trp Single submitter citrullinemia type II ⚠
p.Arg184Gln Single submitter citrin deficiency ⚠
p.Arg18Thr Single submitter citrin deficiency
p.Arg284His Single submitter ⚠
p.Arg284Leu Single submitter Inborn genetic diseases ⚠
p.Arg284Ser Single submitter Inborn genetic diseases ⚠
p.Arg355Leu Single submitter ⚠
p.Arg360Gln Single submitter citrin deficiency ⚠
p.Arg475Trp Single submitter ⚠
p.Arg492Leu Single submitter Inborn genetic diseases ⚠
p.Arg553Pro Single submitter ⚠
p.Arg588Leu Single submitter ⚠
p.Asn38Ser Single submitter Inborn genetic diseases ⚠
p.Asn447Ser Single submitter citrin deficiency ⚠
p.Asn54_Pro55del Single submitter citrin deficiency
p.Asn652Ser Single submitter citrin deficiency ⚠
p.Asp111Gly Single submitter citrin deficiency ⚠
p.Asp182Asn Single submitter ⚠
p.Asp246Val Single submitter Inborn genetic diseases ⚠
p.Asp270Gly Single submitter citrin deficiency ⚠
p.Asp277Gly Single submitter Inborn genetic diseases ⚠
p.Asp423Tyr Single submitter ⚠
p.Asp610His Single submitter citrin deficiency ⚠
p.Asp635Asn Single submitter Inborn genetic diseases ⚠
p.Asp635Gly Single submitter ⚠
p.Cys489Arg Single submitter ⚠
p.Gln259His Single submitter Inborn genetic diseases ⚠
p.Gln457His Single submitter Inborn genetic diseases ⚠
p.Gln556Arg Single submitter ⚠
p.Glu106= Single submitter citrin deficiency
p.Glu161Gln Single submitter Inborn genetic diseases ⚠
p.Glu231Asp Single submitter Inborn genetic diseases ⚠
p.Glu231Lys Single submitter Inborn genetic diseases ⚠
p.Glu327Asp Single submitter Inborn genetic diseases ⚠
p.Gly103Asp Single submitter citrin deficiency ⚠
p.Gly117Glu Single submitter Inborn genetic diseases ⚠
p.Gly139Glu Single submitter citrin deficiency ⚠
p.Gly283Ala Single submitter SLC25A13-related disorder ⚠
p.Gly283Glu Single submitter citrin deficiency ⚠
p.Gly31Ser Single submitter citrin deficiency ⚠
p.Gly424Asp Single submitter citrin deficiency ⚠
p.Gly478Glu Single submitter citrin deficiency ⚠
p.Gly527Ala Single submitter Inborn genetic diseases ⚠
p.Gly555Ser Single submitter Inborn genetic diseases ⚠
p.Gly638Ala Single submitter Inborn genetic diseases ⚠
p.Gly639Asp Single submitter ⚠
p.Gly673= Single submitter neonatal intrahepatic cholestasis due to citrin deficiency
p.Gly674Asp Single submitter Inborn genetic diseases ⚠
p.His213Tyr Single submitter Inborn genetic diseases ⚠
p.His421Pro Single submitter Inborn genetic diseases ⚠
p.Ile181Val Single submitter Inborn genetic diseases ⚠
p.Ile27Thr Single submitter Inborn genetic diseases ⚠
p.Ile27Val Single submitter citrin deficiency ⚠
p.Ile349Val Single submitter Inborn genetic diseases ⚠
p.Ile407Val Single submitter Inborn genetic diseases ⚠
p.Ile499Val Single submitter citrin deficiency ⚠
p.Ile650Val Single submitter Inborn genetic diseases ⚠
p.Leu17= Single submitter
p.Leu45Trp Single submitter citrin deficiency ⚠
p.Leu471Val Single submitter citrin deficiency ⚠
p.Leu570= Single submitter
p.Leu598Met Single submitter Inborn genetic diseases ⚠
p.Lys10Arg Single submitter Inborn genetic diseases ⚠
p.Lys23Asn Single submitter ⚠
p.Lys453Asn Single submitter ⚠
p.Met187Val Single submitter Inborn genetic diseases ⚠
p.Met230Val Single submitter citrin deficiency ⚠
p.Met267Thr Single submitter
p.Phe127Cys Single submitter Inborn genetic diseases ⚠
p.Phe273Leu Single submitter ⚠
p.Phe419Cys Single submitter citrin deficiency ⚠
p.Phe48Cys Single submitter Inborn genetic diseases ⚠
p.Phe593Leu Single submitter ⚠
p.Phe611fs Single submitter citrin deficiency
p.Pro37Arg Single submitter citrin deficiency ⚠
p.Pro502Ala Single submitter Inborn genetic diseases ⚠
p.Pro540Arg Single submitter Inborn genetic diseases ⚠
p.Pro630His Single submitter citrin deficiency ⚠
p.Pro632Leu Single submitter citrin deficiency ⚠
p.Pro632Ser Single submitter citrin deficiency ⚠
p.Pro675Arg Single submitter Inborn genetic diseases ⚠
p.Pro88Thr Single submitter Inborn genetic diseases ⚠
p.Ser336Cys Single submitter Inborn genetic diseases ⚠
p.Ser36Cys Single submitter citrin deficiency ⚠
p.Ser441Phe Single submitter ⚠
p.Ser522Cys Single submitter SLC25A13-related disorder ⚠
p.Ser664Thr Single submitter Inborn genetic diseases ⚠
p.Ter676Gln Single submitter citrin deficiency
p.Ter676GlyextTer? Single submitter citrin deficiency
p.Thr119Ile Single submitter Inborn genetic diseases ⚠
p.Thr120Ala Single submitter ⚠
p.Thr179Ala Single submitter ⚠
p.Thr211Ile Single submitter ⚠
p.Thr646Ile Single submitter Inborn genetic diseases ⚠
p.Trp606Cys Single submitter citrin deficiency ⚠
p.Tyr219His Single submitter citrullinemia, type II, adult-onset ⚠
p.Tyr237Cys Single submitter citrin deficiency ⚠
p.Tyr24His Single submitter
p.Tyr384Phe Single submitter citrin deficiency ⚠
p.Tyr483Cys Single submitter citrin deficiency ⚠
p.Tyr504Cys Single submitter citrullinemia ⚠
p.Val194Ile Single submitter citrin deficiency ⚠
p.Val199Ile Single submitter citrin deficiency ⚠
p.Val401Ile Single submitter
p.Val415Met Single submitter citrin deficiency ⚠
p.Val474Leu Single submitter citrin deficiency ⚠
p.Val507Met Single submitter Inborn genetic diseases ⚠
p.Val58Ala Single submitter citrin deficiency ⚠
p.Val637Leu Single submitter ⚠
p.Val79Ile Single submitter ⚠
p.Val84Phe Single submitter Inborn genetic diseases
c.1019-10T>A No assertion criteria citrullinemia
c.16-6T>G No assertion criteria citrullinemia
c.328+7A>C No assertion criteria citrullinemia
c.616-11A>G No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency
c.849-6C>G No assertion criteria SLC25A13-related disorder
c.933+3G>C No assertion criteria citrullinemia
p.Ala180= No assertion criteria citrullinemia
p.Ala577Ser No assertion criteria citrullinemia ⚠
p.Ala87Thr No assertion criteria citrullinemia ⚠
p.Arg191His No assertion criteria SLC25A13-related disorder
p.Arg282Lys No assertion criteria citrullinemia ⚠
p.Arg553Trp No assertion criteria SLC25A13-related disorder ⚠
p.Asn228Lys No assertion criteria citrullinemia ⚠
p.Asn628Ile No assertion criteria citrullinemia ⚠
p.Asp515Val No assertion criteria SLC25A13-related disorder ⚠
p.Gln118Pro No assertion criteria adult-onset citrullinemia type I ⚠
p.Gln604Arg No assertion criteria citrullinemia ⚠
p.Gln67His No assertion criteria citrullinemia ⚠
p.Glu141_Lys143del No assertion criteria citrullinemia
p.Glu450Gly No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Glu572= No assertion criteria citrullinemia
p.Gly436Ala No assertion criteria citrullinemia ⚠
p.Gly71Glu No assertion criteria citrullinemia ⚠
p.Ile190Thr No assertion criteria citrullinemia ⚠
p.Ile47Asn No assertion criteria citrullinemia
p.Leu17His No assertion criteria citrullinemia ⚠
p.Leu390Gln No assertion criteria adult-onset citrullinemia type I ⚠
p.Leu523Pro No assertion criteria SLC25A13-related disorder ⚠
p.Leu578Pro No assertion criteria SLC25A13-related disorder ⚠
p.Lys245= No assertion criteria citrullinemia
p.Lys653Arg No assertion criteria neonatal intrahepatic cholestasis due to citrin deficiency ⚠
p.Phe220Leu No assertion criteria citrullinemia ⚠
p.Ser364Phe No assertion criteria citrullinemia ⚠
p.Ser510Tyr No assertion criteria citrullinemia ⚠
p.Thr596Pro No assertion criteria citrullinemia ⚠
p.Tyr384Ser No assertion criteria citrullinemia ⚠
p.Val586Ile No assertion criteria citrullinemia ⚠