ARG1 — 564 ClinVar variants
All ClinVar germline ARG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
60 Pathogenic · 21 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 17 Conflicting · 17 Benign · 2 Benign/Likely benign · 240 Likely benign · 156 Uncertain significance
Full ARG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
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.
-
ARG1 p.Thr290Ser
Pathogenic
No assertion criteria
arginase deficiency
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARG1 p.Asp237Asn
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Gln143Arg
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Glu25Asp
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Gly251Ser
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Gly305Arg
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Ile315Thr
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Ser77Asn
Conflicting
Single submitter
Inborn genetic diseases
-
ARG1 p.Thr7Pro
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Val249Leu
Conflicting
Single submitter
arginase deficiency
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARG1 p.Ala3Pro
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Ala81Ser
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Arg21Gly
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Asp117Asn
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Asp158Asn
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Asp237His
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Gln79His
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Glu288Lys
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Glu309Gly
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Gly185Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARG1 p.Gly257Val
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Gly82Asp
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Ile108Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARG1 p.Ile315Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ARG1 p.Ile66Val Uncertain significance Multiple submitters
-
ARG1 p.Ile8Val
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Lys266Asn
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Lys89Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARG1 p.Tyr197His
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Val248Leu
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Val249Ala
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Ala298Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ala307Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ala34Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ala3Thr
Uncertain significance
Single submitter
arginase deficiency
- ARG1 p.Ala76Val Uncertain significance Single submitter
-
ARG1 p.Arg222Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Arg225Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asn294Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asn90Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Asp158Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asp181Tyr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asp234Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asp237Tyr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asp46Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Cys303Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gln19Leu
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gln43Arg
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Glu214Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Glu263Asp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Glu26Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Glu42Gln
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Glu44Gln
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly138Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly178Asp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly22Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Gly22Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly23Trp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly245Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Gly257Arg
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly257Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly98Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.His187Arg
Uncertain significance
Single submitter
arginase deficiency
- ARG1 p.His228Asp Uncertain significance Single submitter
-
ARG1 p.His312Gln
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.His312Tyr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile121Thr
Uncertain significance
Single submitter
arginase deficiency
- ARG1 p.Ile156Thr Uncertain significance Single submitter
-
ARG1 p.Ile169Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile174Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Ile189Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile208Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile275Met
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile299Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Leu216Phe
Uncertain significance
Single submitter
arginase deficiency
- ARG1 p.Leu216Pro Uncertain significance Single submitter
-
ARG1 p.Leu31Trp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Leu40Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Lys284Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Lys313Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Phe147Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro144Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Pro20Leu
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro238Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Pro242Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro247Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro280Leu
Uncertain significance
Single submitter
arginase deficiency
- ARG1 p.Pro28Leu Uncertain significance Single submitter
-
ARG1 p.Pro320Leu
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro63Ala
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ser2Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ser2Ile
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ser5Cys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Thr241Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Thr253Ile
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Thr292Arg
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Thr295Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Trp122Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Tyr188Asp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val123Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val159Leu
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val249Met
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val24Leu
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val278Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val293Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Val297Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.Val73Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val73Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARG1 p.His141Leu
Uncertain significance
No assertion criteria
arginase deficiency
Predictors split 27
The independent predictors disagree with each other — read with care.
-
ARG1 p.Arg308Gln
Pathogenic
Multiple submitters
arginase deficiency
-
ARG1 p.Gly310Cys
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Gly310Val
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Gly91Arg
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Ile105Thr
Uncertain significance
Multiple submitters
arginase deficiency
-
ARG1 p.Leu103Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARG1 p.Ala81Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Arg21Gln
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Arg6Gly
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asn319Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asn319Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Asp204Glu
Conflicting
Single submitter
ARG1-related disorder
-
ARG1 p.Glu78Lys
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly35Asp
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Gly35Ser
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ile129Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Leu216Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Leu318Pro
Conflicting
Single submitter
arginase deficiency
-
ARG1 p.Leu97Val
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Lys17Asn
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Lys223Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro184His
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Pro286Thr
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Ser199Ala
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Thr134Ile
Pathogenic
Single submitter
arginase deficiency
-
ARG1 p.Tyr254His
Uncertain significance
Single submitter
arginase deficiency
-
ARG1 p.Val278Leu
Uncertain significance
Single submitter
arginase deficiency
All ARG1 variants
Pathogenic 60
- c.130+1G>A Multiple submitters arginase deficiency
- c.466-1G>C Multiple submitters arginase deficiency
- c.560+2T>C Multiple submitters arginase deficiency
- p.Arg21Ter Multiple submitters Inborn genetic diseases
- p.Arg291Ter Multiple submitters arginase deficiency
- p.Arg308Gln Multiple submitters arginase deficiency ⚠
- p.Arg92fs Multiple submitters arginase deficiency
- p.Glu42Ter Multiple submitters arginase deficiency
- p.Gly27Asp Multiple submitters arginase deficiency
- p.Leu216fs Multiple submitters arginase deficiency
- p.Met1Thr Multiple submitters arginase deficiency
- c.305+1G>A Single submitter arginase deficiency
- c.57+1G>T Single submitter arginase deficiency
- c.666-2A>C Single submitter arginase deficiency
- c.666-2A>G Single submitter
- c.802+1G>A Single submitter arginase deficiency
- p.Ala298fs Single submitter arginase deficiency
- p.Arg113fs Single submitter arginase deficiency
- p.Arg225fs Single submitter arginase deficiency
- p.Arg32fs Single submitter arginase deficiency
- p.Asp124Gly Single submitter arginase deficiency
- p.Asp183del Single submitter arginase deficiency
- p.Asp234His Single submitter arginase deficiency
- p.Asp274fs Single submitter arginase deficiency
- p.Gln65fs Single submitter arginase deficiency
- p.Glu202fs Single submitter arginase deficiency
- p.Glu214fs Single submitter arginase deficiency
- p.Glu256Lys Single submitter arginase deficiency
- p.Glu256Ter Single submitter arginase deficiency
- p.Glu42fs Single submitter arginase deficiency
- p.Glu44fs Single submitter arginase deficiency
- p.Glu78fs Single submitter arginase deficiency
- p.Gly106Arg Single submitter arginase deficiency
- p.Gly142fs Single submitter arginase deficiency
- p.Gly235Arg Single submitter arginase deficiency
- p.Gly235fs Single submitter
- p.Gly91fs Single submitter arginase deficiency
- p.Ile156fs Single submitter arginase deficiency
- p.Ile275fs Single submitter arginase deficiency
- p.Leu193fs Single submitter arginase deficiency
- p.Leu270fs Single submitter arginase deficiency
- p.Leu53fs Single submitter arginase deficiency
- p.Lys17fs Single submitter arginase deficiency
- p.Lys39Ter Single submitter arginase deficiency
- p.Lys48Ter Single submitter arginase deficiency
- p.Lys88fs Single submitter arginase deficiency
- p.Met1Ile Single submitter arginase deficiency
- p.Phe162fs Single submitter arginase deficiency
- p.Phe231Ter Single submitter arginase deficiency
- p.Pro280fs Single submitter arginase deficiency
- p.Pro54fs Single submitter arginase deficiency
- p.Ser109fs Single submitter arginase deficiency
- p.Ser199fs Single submitter arginase deficiency
- p.Ser271fs Single submitter arginase deficiency
- p.Thr134Ile Single submitter arginase deficiency ⚠
- p.Thr292_Val293insTer Single submitter arginase deficiency
- p.Val165fs Single submitter arginase deficiency
- p.Gly27fs No assertion criteria arginase deficiency
- p.Leu282fs No assertion criteria arginase deficiency
- p.Thr290Ser No assertion criteria arginase deficiency ⚠
Pathogenic/Likely pathogenic 21
- c.466-2A>G Multiple submitters arginase deficiency
- c.57+1G>A Multiple submitters ARG1-related disorder
- p.Ala125fs Multiple submitters arginase deficiency
- p.Ala298Pro Multiple submitters arginase deficiency
- p.Asp117fs Multiple submitters arginase deficiency
- p.Asp124Tyr Multiple submitters arginase deficiency
- p.Asp128Gly Multiple submitters ARG1-related disorder
- p.Asp237fs Multiple submitters arginase deficiency
- p.Gly142Glu Multiple submitters arginase deficiency
- p.Gly272fs Multiple submitters arginase deficiency
- p.Gly99Arg Multiple submitters arginase deficiency
- p.His228_Leu229insTer Multiple submitters arginase deficiency
- p.Ile11Thr Multiple submitters arginase deficiency
- p.Ile227fs Multiple submitters arginase deficiency
- p.Ile8Lys Multiple submitters arginase deficiency
- p.Lys313fs Multiple submitters arginase deficiency
- p.Phe147fs Multiple submitters arginase deficiency
- p.Thr135Ile Multiple submitters arginase deficiency
- p.Trp122Ter Multiple submitters arginase deficiency
- p.Trp164Ter Multiple submitters arginase deficiency
- p.Val145Glu Multiple submitters arginase deficiency
Likely pathogenic 51
- c.465+1G>A Multiple submitters arginase deficiency
- c.665+2T>C Multiple submitters arginase deficiency
- p.Ala125Val Multiple submitters arginase deficiency
- p.Arg308Trp Multiple submitters arginase deficiency
- p.Glu263Ter Multiple submitters arginase deficiency
- c.131-1G>C Single submitter arginase deficiency
- c.131-1G>T Single submitter arginase deficiency
- c.131-8_131-2del Single submitter arginase deficiency
- c.306-1del Single submitter arginase deficiency
- c.306-1G>A Single submitter arginase deficiency
- c.306-1G>T Single submitter arginase deficiency
- c.457_465+18del Single submitter arginase deficiency
- c.465+1G>T Single submitter ARG1-related disorder
- c.466-179_524del Single submitter arginase deficiency
- c.57+1del Single submitter arginase deficiency
- c.57+1G>C Single submitter arginase deficiency
- c.57+2_57+6del Single submitter arginase deficiency
- c.58-2A>C Single submitter arginase deficiency
- c.58-2A>T Single submitter arginase deficiency
- c.58-3C>G Single submitter
- c.666-2_668del Single submitter arginase deficiency
- c.666-2A>T Single submitter arginase deficiency
- c.802+2T>C Single submitter arginase deficiency
- p.Ala125Pro Single submitter arginase deficiency
- p.Asp181fs Single submitter arginase deficiency
- p.Asp49fs Single submitter arginase deficiency
- p.Asp61fs Single submitter arginase deficiency
- p.Glu213Ter Single submitter arginase deficiency
- p.Glu277fs Single submitter arginase deficiency
- p.Gly106Glu Single submitter arginase deficiency
- p.Gly154fs Single submitter arginase deficiency
- p.Gly18Glu Single submitter arginase deficiency
- p.Gly221Ter Single submitter arginase deficiency
- p.Gly99fs Single submitter arginase deficiency
- p.Ile129del Single submitter arginase deficiency
- p.Leu273Ter Single submitter arginase deficiency
- p.Lys48fs Single submitter arginase deficiency
- p.Met212fs Single submitter arginase deficiency
- p.Ser16Ter Single submitter arginase deficiency
- p.Tyr50delinsPheMetTer Single submitter arginase deficiency
- p.Val145fs Single submitter arginase deficiency
- p.Val182Gly Single submitter arginase deficiency
- p.Val24fs Single submitter arginase deficiency
- p.Val47fs Single submitter arginase deficiency
- p.Val84Ala Single submitter arginase deficiency
- c.130+1G>T No assertion criteria arginase deficiency
- p.Ile11fs No assertion criteria arginase deficiency
- p.Lys172fs No assertion criteria arginase deficiency
- p.Phe231fs No assertion criteria arginase deficiency
- p.Thr215fs No assertion criteria arginase deficiency
- p.Thr292fs No assertion criteria arginase deficiency
Conflicting classifications of pathogenicity 17
- c.305+7T>C Single submitter arginase deficiency
- p.Arg21Gln Single submitter arginase deficiency ⚠
- p.Asp204Glu Single submitter ARG1-related disorder ⚠
- p.Asp237Asn Single submitter arginase deficiency ⚠
- p.Gln143Arg Single submitter arginase deficiency ⚠
- p.Glu25= Single submitter arginase deficiency
- p.Glu25Asp Single submitter arginase deficiency ⚠
- p.Glu288del Single submitter arginase deficiency
- p.Gly251Ser Single submitter arginase deficiency ⚠
- p.Gly305Arg Single submitter arginase deficiency ⚠
- p.His312= Single submitter arginase deficiency
- p.Ile105_His115delinsAsnAlaSerIleArgMetThr Single submitter arginase deficiency
- p.Ile315Thr Single submitter arginase deficiency ⚠
- p.Leu318Pro Single submitter arginase deficiency ⚠
- p.Ser77Asn Single submitter Inborn genetic diseases ⚠
- p.Thr7Pro Single submitter arginase deficiency ⚠
- p.Val249Leu Single submitter arginase deficiency ⚠
Benign 17
- c.306-30G>A Multiple submitters
- c.802+76dup Multiple submitters arginase deficiency
- c.-65C>T Multiple submitters arginase deficiency
- p.Asn90= Multiple submitters arginase deficiency
- p.Gln19= Multiple submitters arginase deficiency
- c.130+20del Single submitter arginase deficiency
- c.131-106C>T Single submitter
- c.131-107G>A Single submitter
- c.131-265C>T Single submitter
- c.305+94G>T Single submitter
- c.306-10dup Single submitter arginase deficiency
- c.306-119_306-116dup Single submitter
- c.306-16del Single submitter arginase deficiency
- c.306-460_306-459dup Single submitter
- c.560+100AC[9] Single submitter
- c.57+12del Single submitter arginase deficiency
- c.802+88C>T Single submitter
Benign/Likely benign 2
Likely benign 240
- c.306-177A>C Multiple submitters
- c.465+101G>A Multiple submitters
- c.561-31A>C Multiple submitters
- c.561-9_561-8del Multiple submitters arginase deficiency
- c.803-8T>C Multiple submitters arginase deficiency
- p.Asp158= Multiple submitters arginase deficiency
- p.Asp181= Multiple submitters arginase deficiency
- p.Asp234= Multiple submitters arginase deficiency
- p.Gly207= Multiple submitters arginase deficiency
- p.His111= Multiple submitters arginase deficiency
- p.Leu216= Multiple submitters arginase deficiency
- p.Lys48= Multiple submitters arginase deficiency
- p.Pro157= Multiple submitters arginase deficiency
- p.Ser2= Multiple submitters arginase deficiency
- p.Val175= Multiple submitters arginase deficiency
- c.130+10_130+13dup Single submitter arginase deficiency
- c.130+11A>G Single submitter arginase deficiency
- c.130+20A>T Single submitter arginase deficiency
- c.130+3_130+4dup Single submitter arginase deficiency
- c.130+8_130+9del Single submitter arginase deficiency
- c.131-10_131-9del Single submitter arginase deficiency
- c.131-11T>C Single submitter
- c.131-14C>T Single submitter arginase deficiency
- c.131-19C>G Single submitter arginase deficiency
- c.131-4T>A Single submitter arginase deficiency
- c.131-9T>A Single submitter arginase deficiency
- c.131-9T>C Single submitter arginase deficiency
- c.305+11A>G Single submitter arginase deficiency
- c.305+16T>C Single submitter arginase deficiency
- c.305+8T>C Single submitter arginase deficiency
- c.306-10_306-9delinsCT Single submitter arginase deficiency
- c.306-11T>C Single submitter arginase deficiency
- c.306-12T>C Single submitter arginase deficiency
- c.306-15T>C Single submitter arginase deficiency
- c.306-16A>T Single submitter arginase deficiency
- c.306-240A>G Single submitter
- c.306-553T>C Single submitter
- c.306-5A>G Single submitter arginase deficiency
- c.306-612C>T Single submitter
- c.306-627A>G Single submitter
- c.306-7C>T Single submitter arginase deficiency
- c.306-9C>T Single submitter arginase deficiency
- c.465+19C>T Single submitter arginase deficiency
- c.465+9C>T Single submitter arginase deficiency
- c.466-10G>A Single submitter arginase deficiency
- c.466-12T>C Single submitter arginase deficiency
- c.466-13A>G Single submitter arginase deficiency
- c.466-13A>T Single submitter arginase deficiency
- c.466-14C>T Single submitter arginase deficiency
- c.466-19G>A Single submitter arginase deficiency
- c.560+10T>C Single submitter arginase deficiency
- c.560+15T>C Single submitter arginase deficiency
- c.560+18T>A Single submitter arginase deficiency
- c.560+19G>A Single submitter arginase deficiency
- c.560+20T>C Single submitter arginase deficiency
- c.561-12TC[4] Single submitter arginase deficiency
- c.561-14T>C Single submitter arginase deficiency
- c.561-19C>A Single submitter arginase deficiency
- c.561-20T>C Single submitter arginase deficiency
- c.561-5T>C Single submitter arginase deficiency
- c.561-6T>C Single submitter arginase deficiency
- c.561-7T>A Single submitter arginase deficiency
- c.561-8T>C Single submitter arginase deficiency
- c.561-9C>A Single submitter arginase deficiency
- c.561-9C>G Single submitter arginase deficiency
- c.57+12A>G Single submitter arginase deficiency
- c.57+12A>T Single submitter arginase deficiency
- c.57+13G>T Single submitter arginase deficiency
- c.57+18dup Single submitter arginase deficiency
- c.57+195G>A Single submitter
- c.57+20T>C Single submitter arginase deficiency
- c.57+7A>G Single submitter arginase deficiency
- c.58-11T>C Single submitter arginase deficiency
- c.58-13_58-11del Single submitter arginase deficiency
- c.58-16T>C Single submitter arginase deficiency
- c.58-17A>G Single submitter arginase deficiency
- c.58-17A>T Single submitter arginase deficiency
- c.58-293G>A Single submitter
- c.665+11_665+27del Single submitter arginase deficiency
- c.665+13TG[3] Single submitter arginase deficiency
- c.665+14G>C Single submitter arginase deficiency
- c.665+16G>A Single submitter arginase deficiency
- c.665+18G>A Single submitter arginase deficiency
- c.665+19T>C Single submitter arginase deficiency
- c.665+20G>A Single submitter arginase deficiency
- c.665+23_665+36del Single submitter arginase deficiency
- c.665+26_665+27del Single submitter
- c.665+7T>C Single submitter arginase deficiency
- c.665+7T>G Single submitter arginase deficiency
- c.665+9C>A Single submitter arginase deficiency
- c.665+9C>G Single submitter arginase deficiency
- c.666-11C>A Single submitter arginase deficiency
- c.666-12A>T Single submitter arginase deficiency
- c.666-13C>T Single submitter arginase deficiency
- c.666-19C>T Single submitter arginase deficiency
- c.666-19del Single submitter arginase deficiency
- c.666-20C>T Single submitter arginase deficiency
- c.666-5A>G Single submitter arginase deficiency
- c.666-6T>C Single submitter arginase deficiency
- c.802+12T>G Single submitter arginase deficiency
- c.802+15_802+19del Single submitter arginase deficiency
- c.802+20A>G Single submitter arginase deficiency
- c.802+9C>A Single submitter arginase deficiency
- c.802+9C>G Single submitter arginase deficiency
- c.803-10G>A Single submitter arginase deficiency
- c.803-12TTG[2] Single submitter arginase deficiency
- c.803-17A>G Single submitter arginase deficiency
- c.803-20A>G Single submitter arginase deficiency
- c.803-4G>T Single submitter arginase deficiency
- c.803-9T>A Single submitter arginase deficiency
- c.803-9T>C Single submitter arginase deficiency
- p.Ala104= Single submitter arginase deficiency
- p.Ala112= Single submitter arginase deficiency
- p.Ala125= Single submitter arginase deficiency
- p.Ala171= Single submitter arginase deficiency
- p.Ala3= Single submitter arginase deficiency
- p.Ala302= Single submitter arginase deficiency
- p.Ala56= Single submitter arginase deficiency
- p.Ala81= Single submitter arginase deficiency
- p.Ala85= Single submitter arginase deficiency
- p.Arg21= Single submitter arginase deficiency
- p.Arg225= Single submitter arginase deficiency
- p.Arg308= Single submitter arginase deficiency
- p.Asn130= Single submitter arginase deficiency
- p.Asn279= Single submitter arginase deficiency
- p.Asp128= Single submitter arginase deficiency
- p.Asp173= Single submitter arginase deficiency
- p.Asp183= Single submitter arginase deficiency
- p.Asp204= Single submitter arginase deficiency
- p.Asp274= Single submitter arginase deficiency
- p.Asp49= Single submitter arginase deficiency
- p.Asp57= Single submitter arginase deficiency
- p.Asp61= Single submitter arginase deficiency
- p.Cys45= Single submitter arginase deficiency
- p.Gln143= Single submitter arginase deficiency
- p.Glu186= Single submitter arginase deficiency
- p.Glu202= Single submitter arginase deficiency
- p.Glu263= Single submitter arginase deficiency
- p.Glu277= Single submitter arginase deficiency
- p.Glu309= Single submitter arginase deficiency
- p.Glu44= Single submitter arginase deficiency
- p.Glu78= Single submitter arginase deficiency
- p.Gly106= Single submitter arginase deficiency
- p.Gly110= Single submitter arginase deficiency
- p.Gly110= Single submitter arginase deficiency
- p.Gly119= Single submitter arginase deficiency
- p.Gly12= Single submitter arginase deficiency
- p.Gly154= Single submitter arginase deficiency
- p.Gly178= Single submitter arginase deficiency
- p.Gly18= Single submitter arginase deficiency
- p.Gly194= Single submitter arginase deficiency
- p.Gly209= Single submitter arginase deficiency
- p.Gly221= Single submitter arginase deficiency
- p.Gly23= Single submitter arginase deficiency
- p.Gly245= Single submitter arginase deficiency
- p.Gly268= Single submitter arginase deficiency
- p.Gly27= Single submitter arginase deficiency
- p.Gly283= Single submitter arginase deficiency
- p.Gly305= Single submitter arginase deficiency
- p.Gly51= Single submitter arginase deficiency
- p.Gly98= Single submitter arginase deficiency
- p.Gly99= Single submitter arginase deficiency
- p.His126= Single submitter arginase deficiency
- p.His141= Single submitter arginase deficiency
- p.Ile10= Single submitter arginase deficiency
- p.Ile121= Single submitter arginase deficiency
- p.Ile174= Single submitter arginase deficiency
- p.Ile177= Single submitter arginase deficiency
- p.Ile260= Single submitter arginase deficiency
- p.Ile264= Single submitter arginase deficiency
- p.Ile275= Single submitter arginase deficiency
- p.Ile299= Single submitter arginase deficiency
- p.Ile66= Single submitter arginase deficiency
- p.Leu103= Single submitter arginase deficiency
- p.Leu133= Single submitter arginase deficiency
- p.Leu140= Single submitter arginase deficiency
- p.Leu149= Single submitter arginase deficiency
- p.Leu152= Single submitter arginase deficiency
- p.Leu190= Single submitter arginase deficiency
- p.Leu219= Single submitter arginase deficiency
- p.Leu229= Single submitter arginase deficiency
- p.Leu258= Single submitter arginase deficiency
- p.Leu270= Single submitter arginase deficiency
- p.Leu273= Single submitter arginase deficiency
- p.Leu301= Single submitter arginase deficiency
- p.Leu306= Single submitter arginase deficiency
- p.Leu31= Single submitter arginase deficiency
- p.Leu37= Single submitter arginase deficiency
- p.Leu53= Single submitter arginase deficiency
- p.Leu95= Single submitter arginase deficiency
- p.Leu97= Single submitter arginase deficiency
- p.Lys172= Single submitter arginase deficiency
- p.Lys210= Single submitter arginase deficiency
- p.Lys322= Single submitter arginase deficiency
- p.Lys88= Single submitter arginase deficiency
- p.Phe162= Single submitter arginase deficiency
- p.Phe240= Single submitter arginase deficiency
- p.Pro116= Single submitter
- p.Pro14= Single submitter arginase deficiency
- p.Pro167= Single submitter arginase deficiency
- p.Pro242= Single submitter arginase deficiency
- p.Pro28= Single submitter arginase deficiency
- p.Pro280= Single submitter arginase deficiency
- p.Pro286= Single submitter arginase deficiency
- p.Pro321= Single submitter arginase deficiency
- p.Pro54= Single submitter arginase deficiency
- p.Pro59= Single submitter arginase deficiency
- p.Pro63= Single submitter arginase deficiency
- p.Pro70= Single submitter arginase deficiency
- p.Ser107= Single submitter arginase deficiency
- p.Ser137= Single submitter arginase deficiency
- p.Ser16= Single submitter arginase deficiency
- p.Ser281= Single submitter arginase deficiency
- p.Ser5= Single submitter arginase deficiency
- p.Ser72= Single submitter
- p.Ser77= Single submitter arginase deficiency
- p.Ser94= Single submitter arginase deficiency
- p.Thr127= Single submitter arginase deficiency
- p.Thr131= Single submitter arginase deficiency
- p.Thr134= Single submitter arginase deficiency
- p.Thr201= Single submitter arginase deficiency
- p.Thr215= Single submitter arginase deficiency
- p.Thr29= Single submitter arginase deficiency
- p.Thr29= Single submitter arginase deficiency
- p.Thr292= Single submitter arginase deficiency
- p.Thr295= Single submitter arginase deficiency
- p.Thr300= Single submitter arginase deficiency
- p.Tyr188= Single submitter arginase deficiency
- p.Tyr197= Single submitter arginase deficiency
- p.Tyr254= Single submitter arginase deficiency
- p.Tyr259= Single submitter arginase deficiency
- p.Tyr265= Single submitter arginase deficiency
- p.Tyr50= Single submitter arginase deficiency
- p.Val114= Single submitter arginase deficiency
- p.Val159= Single submitter arginase deficiency
- p.Val248= Single submitter arginase deficiency
- p.Val293= Single submitter arginase deficiency
- p.Val47= Single submitter arginase deficiency
- p.Val84= Single submitter arginase deficiency
- p.Val87= Single submitter arginase deficiency
Uncertain significance 156
- c.131-7_131-2del Multiple submitters arginase deficiency
- c.306-1_307dup Multiple submitters arginase deficiency
- c.665+4G>A Multiple submitters arginase deficiency
- c.802+4G>C Multiple submitters arginase deficiency
- c.-21A>C Multiple submitters arginase deficiency
- p.Ala3Pro Multiple submitters arginase deficiency ⚠
- p.Ala81Ser Multiple submitters arginase deficiency ⚠
- p.Arg21Gly Multiple submitters arginase deficiency ⚠
- p.Asp117Asn Multiple submitters arginase deficiency ⚠
- p.Asp158Asn Multiple submitters arginase deficiency ⚠
- p.Asp237His Multiple submitters arginase deficiency ⚠
- p.Gln79His Multiple submitters arginase deficiency ⚠
- p.Glu288Lys Multiple submitters arginase deficiency ⚠
- p.Glu309Gly Multiple submitters arginase deficiency ⚠
- p.Gly161Ala Multiple submitters arginase deficiency
- p.Gly185Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly257Val Multiple submitters arginase deficiency ⚠
- p.Gly310Cys Multiple submitters arginase deficiency ⚠
- p.Gly310Val Multiple submitters arginase deficiency ⚠
- p.Gly82Asp Multiple submitters arginase deficiency ⚠
- p.Gly91Arg Multiple submitters arginase deficiency ⚠
- p.Ile105Thr Multiple submitters arginase deficiency ⚠
- p.Ile108Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile315Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile66Val Multiple submitters ⚠
- p.Ile8Val Multiple submitters arginase deficiency ⚠
- p.Leu103Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys266Asn Multiple submitters arginase deficiency ⚠
- p.Lys89Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met276Thr Multiple submitters arginase deficiency
- p.Tyr197His Multiple submitters arginase deficiency ⚠
- p.Val248Leu Multiple submitters arginase deficiency ⚠
- p.Val249Ala Multiple submitters arginase deficiency ⚠
- c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT Single submitter arginase deficiency
- c.560+5G>A Single submitter arginase deficiency
- c.58-18T>A Single submitter arginase deficiency
- c.58-18T>C Single submitter arginase deficiency
- c.58-8T>C Single submitter arginase deficiency
- c.665+6A>G Single submitter arginase deficiency
- c.666-18_666-14del Single submitter arginase deficiency
- c.803-14A>G Single submitter arginase deficiency
- c.-70A>G Single submitter arginase deficiency
- c.*73A>G Single submitter arginase deficiency
- p.Ala298Thr Single submitter arginase deficiency ⚠
- p.Ala307Val Single submitter arginase deficiency ⚠
- p.Ala34Ser Single submitter arginase deficiency ⚠
- p.Ala3Thr Single submitter arginase deficiency ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala81Thr Single submitter arginase deficiency ⚠
- p.Ala81Val Single submitter arginase deficiency
- p.Arg222Gly Single submitter arginase deficiency ⚠
- p.Arg225Gly Single submitter arginase deficiency ⚠
- p.Arg6Gly Single submitter arginase deficiency ⚠
- p.Arg92Ile Single submitter arginase deficiency
- p.Asn294Lys Single submitter arginase deficiency ⚠
- p.Asn319Lys Single submitter arginase deficiency ⚠
- p.Asn319Ser Single submitter arginase deficiency ⚠
- p.Asn69Lys Single submitter arginase deficiency
- p.Asn90Lys Single submitter Inborn genetic diseases ⚠
- p.Asp158Gly Single submitter arginase deficiency ⚠
- p.Asp181Tyr Single submitter arginase deficiency ⚠
- p.Asp234Asn Single submitter arginase deficiency ⚠
- p.Asp237Tyr Single submitter arginase deficiency ⚠
- p.Asp316Ter Single submitter arginase deficiency
- p.Asp46Asn Single submitter arginase deficiency ⚠
- p.Cys168Tyr Single submitter arginase deficiency
- p.Cys303Gly Single submitter arginase deficiency ⚠
- p.Gln19Leu Single submitter arginase deficiency ⚠
- p.Gln43Arg Single submitter arginase deficiency ⚠
- p.Glu214Lys Single submitter arginase deficiency ⚠
- p.Glu256del Single submitter arginase deficiency
- p.Glu263Asp Single submitter arginase deficiency ⚠
- p.Glu263Lys Single submitter arginase deficiency
- p.Glu26Lys Single submitter arginase deficiency ⚠
- p.Glu42del Single submitter arginase deficiency
- p.Glu42Gln Single submitter arginase deficiency ⚠
- p.Glu44Gln Single submitter arginase deficiency ⚠
- p.Glu78Lys Single submitter arginase deficiency ⚠
- p.Gly138Val Single submitter arginase deficiency ⚠
- p.Gly178Asp Single submitter arginase deficiency ⚠
- p.Gly22Glu Single submitter Inborn genetic diseases ⚠
- p.Gly22Val Single submitter arginase deficiency ⚠
- p.Gly23Trp Single submitter arginase deficiency ⚠
- p.Gly245Ser Single submitter Inborn genetic diseases ⚠
- p.Gly257Arg Single submitter arginase deficiency ⚠
- p.Gly257Ser Single submitter arginase deficiency ⚠
- p.Gly35Asp Single submitter arginase deficiency ⚠
- p.Gly35Ser Single submitter arginase deficiency ⚠
- p.Gly98Ser Single submitter arginase deficiency ⚠
- p.His111_Pro116del Single submitter arginase deficiency
- p.His187Arg Single submitter arginase deficiency ⚠
- p.His228Asp Single submitter ⚠
- p.His312Gln Single submitter arginase deficiency ⚠
- p.His312Tyr Single submitter arginase deficiency ⚠
- p.Ile105_Gly106delinsAsnAla Single submitter arginase deficiency
- p.Ile121Thr Single submitter arginase deficiency ⚠
- p.Ile129Thr Single submitter arginase deficiency ⚠
- p.Ile156Thr Single submitter ⚠
- p.Ile169Val Single submitter arginase deficiency ⚠
- p.Ile174Val Single submitter Inborn genetic diseases ⚠
- p.Ile189Asn Single submitter arginase deficiency ⚠
- p.Ile208Thr Single submitter arginase deficiency ⚠
- p.Ile275Met Single submitter arginase deficiency ⚠
- p.Ile299Lys Single submitter arginase deficiency ⚠
- p.Leu216Phe Single submitter arginase deficiency ⚠
- p.Leu216Pro Single submitter ⚠
- p.Leu216Val Single submitter arginase deficiency ⚠
- p.Leu31Trp Single submitter arginase deficiency ⚠
- p.Leu40Pro Single submitter Inborn genetic diseases ⚠
- p.Leu97Val Single submitter arginase deficiency ⚠
- p.Lys17Asn Single submitter arginase deficiency ⚠
- p.Lys17Thr Single submitter Inborn genetic diseases
- p.Lys223Thr Single submitter arginase deficiency ⚠
- p.Lys284Asn Single submitter arginase deficiency ⚠
- p.Lys313Asn Single submitter arginase deficiency ⚠
- p.Met200del Single submitter arginase deficiency
- p.Phe147Ser Single submitter arginase deficiency ⚠
- p.Pro144Leu Single submitter Inborn genetic diseases ⚠
- p.Pro184His Single submitter arginase deficiency ⚠
- p.Pro20Leu Single submitter arginase deficiency ⚠
- p.Pro238Leu Single submitter Inborn genetic diseases ⚠
- p.Pro242Ser Single submitter arginase deficiency ⚠
- p.Pro247Ser Single submitter arginase deficiency ⚠
- p.Pro280Leu Single submitter arginase deficiency ⚠
- p.Pro286Thr Single submitter arginase deficiency ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro320Leu Single submitter arginase deficiency ⚠
- p.Pro63Ala Single submitter arginase deficiency ⚠
- p.Ser199Ala Single submitter arginase deficiency ⚠
- p.Ser2Gly Single submitter arginase deficiency ⚠
- p.Ser2Ile Single submitter arginase deficiency ⚠
- p.Ser5Cys Single submitter arginase deficiency ⚠
- p.Thr241Ile Single submitter Inborn genetic diseases ⚠
- p.Thr253Ile Single submitter arginase deficiency ⚠
- p.Thr292Arg Single submitter arginase deficiency ⚠
- p.Thr295Lys Single submitter arginase deficiency ⚠
- p.Trp122Gly Single submitter arginase deficiency ⚠
- p.Tyr188Asp Single submitter arginase deficiency ⚠
- p.Tyr254His Single submitter arginase deficiency ⚠
- p.Val123Gly Single submitter arginase deficiency ⚠
- p.Val159Leu Single submitter arginase deficiency ⚠
- p.Val249Met Single submitter arginase deficiency ⚠
- p.Val24Leu Single submitter arginase deficiency ⚠
- p.Val278Gly Single submitter arginase deficiency ⚠
- p.Val278Leu Single submitter arginase deficiency ⚠
- p.Val293Glu Single submitter Inborn genetic diseases ⚠
- p.Val293Leu Single submitter arginase deficiency
- p.Val297Ile Single submitter Inborn genetic diseases ⚠
- p.Val73Gly Single submitter arginase deficiency ⚠
- p.Val73Met Single submitter Inborn genetic diseases ⚠
- c.131-9dup No assertion criteria arginase deficiency
- p.Arg71Thr No assertion criteria arginase deficiency
- p.His141Leu No assertion criteria arginase deficiency ⚠
- p.Pro320fs No assertion criteria arginase deficiency
- p.Ser146_Phe147insSer No assertion criteria arginase deficiency
- p.Thr192_Leu193insPro No assertion criteria arginase deficiency