ITPA — 318 ClinVar variants
All ClinVar germline ITPA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
19 Pathogenic · 7 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 7 Conflicting · 28 Benign · 5 Benign/Likely benign · 128 Likely benign · 113 Uncertain significance
Full ITPA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ITPA p.Arg139Gln
Conflicting
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg178Cys
Conflicting
Single submitter
infantile epileptic-dyskinetic encephalopathy
-
ITPA p.Gly85Ser
Conflicting
Single submitter
developmental and epileptic encephalopathy, 35
-
ITPA p.Thr163Met
Conflicting
Single submitter
developmental and epileptic encephalopathy, 35
-
ITPA p.Val24Ile
Conflicting
Single submitter
inosine triphosphatase deficiency
Predictors lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ITPA p.Ala170Thr
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Ala170Val
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Cys57Tyr
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Glu171Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Pro153His
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Pro49Leu
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Thr34Ala
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Thr34Asn
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Val141Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Val175Leu
Uncertain significance
Multiple submitters
ITPA-related disorder
-
ITPA p.Val64Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Ala165Thr
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala174Thr
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala174Val
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala193Gly
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala194Ser
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala37Thr
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala37Val
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ala79Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPA p.Arg135Gln
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg144Lys
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg178His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Asp124Val
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Asp152His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPA p.Asp72Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 35
-
ITPA p.Cys74Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 35
-
ITPA p.Gln102His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Gln127His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Gln156His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Gln186Arg
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Gln38Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ITPA p.Gln46Arg Uncertain significance Single submitter
-
ITPA p.Gln55His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Glu108Gly
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Glu71Gln Uncertain significance Single submitter
-
ITPA p.Glu93Gln
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Glu98Asp
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Gly134Asp Uncertain significance Single submitter
- ITPA p.His177Tyr Uncertain significance Single submitter
-
ITPA p.Ile52Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPA p.Ile54Val
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Ile88Leu Uncertain significance Single submitter
-
ITPA p.Leu103Phe
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Leu104Pro
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Leu182Pro Uncertain significance Single submitter
-
ITPA p.Leu20Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPA p.Leu42Pro
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Leu69Pro
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Leu92Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 35
-
ITPA p.Lys39Asn
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Phe132Leu
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Pro157Ser
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ser121Arg
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ser121Asn
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Ser176Pro
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Thr117Lys
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Thr14Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITPA p.Tyr113His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Tyr160Phe
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Tyr87Asp
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Val175Gly Uncertain significance Single submitter
-
ITPA p.Val175Ile
Uncertain significance
Single submitter
inosine triphosphatase deficiency
Predictors split 29
The independent predictors disagree with each other — read with care.
-
ITPA p.Arg133Gly
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Arg135Trp
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Arg180Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Arg62Cys
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Glu93Gly
Benign/Likely benign
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.His101Arg
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Phe189Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Pro128Leu
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Pro43Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITPA p.Val61Phe
Uncertain significance
Multiple submitters
inosine triphosphatase deficiency
-
ITPA p.Ala2Glu
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg130Cys
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg130His
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg139Trp
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Arg180Gln
Benign
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Asp109Glu
Uncertain significance
Single submitter
inosine triphosphatase deficiency
- ITPA p.Asp124Gly Uncertain significance Single submitter
-
ITPA p.Asp148Tyr
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Glu51Lys
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Glu59Gln
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Leu115Phe
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Leu95Phe
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Lys169Asn
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Phe12Leu
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Pro67Thr
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Val129Leu
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Val129Met
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Val23Ile
Uncertain significance
Single submitter
inosine triphosphatase deficiency
-
ITPA p.Val36Met
Uncertain significance
Single submitter
inosine triphosphatase deficiency
All ITPA variants
Pathogenic 19
- c.124+2T>C Multiple submitters inosine triphosphatase deficiency
- p.Trp151Ter Multiple submitters ITPA-related disorder
- c.189+1G>A Single submitter developmental and epileptic encephalopathy, 35
- c.263+583_295+1203del Single submitter developmental and epileptic encephalopathy, 35
- c.264-1G>C Single submitter inosine triphosphatase deficiency
- c.264-2A>G Single submitter inosine triphosphatase deficiency
- p.Gln102Ter Single submitter inosine triphosphatase deficiency
- p.Gln162Ter Single submitter developmental and epileptic encephalopathy, 35
- p.Gln25Ter Single submitter inosine triphosphatase deficiency
- p.Glu48Ter Single submitter developmental and epileptic encephalopathy, 35
- p.Gly85fs Single submitter inosine triphosphatase deficiency
- p.Leu120fs Single submitter developmental and epileptic encephalopathy, 35
- p.Lys94_Leu95insTer Single submitter inosine triphosphatase deficiency
- p.Phe31fs Single submitter inosine triphosphatase deficiency
- p.Ser137Ter Single submitter inosine triphosphatase deficiency
- p.Thr14fs Single submitter developmental and epileptic encephalopathy, 35
- p.Trp90fs Single submitter inosine triphosphatase deficiency
- p.Val24fs Single submitter inosine triphosphatase deficiency
- c.264-607_295+1267del No assertion criteria developmental and epileptic encephalopathy, 35
Pathogenic/Likely pathogenic 7
- c.124+1G>A Multiple submitters inosine triphosphatase deficiency
- c.264-1G>A Multiple submitters developmental and epileptic encephalopathy, 35
- c.411+1del Multiple submitters inosine triphosphatase deficiency
- p.Arg135fs Multiple submitters Inborn genetic diseases
- p.Gln156Ter Multiple submitters inosine triphosphatase deficiency
- p.Gly123fs Multiple submitters tooth agenesis
- p.Trp90Ter Multiple submitters infantile epileptic-dyskinetic encephalopathy
Likely pathogenic 11
- c.190-2A>T Single submitter inosine triphosphatase deficiency
- c.296-2A>C Single submitter inosine triphosphatase deficiency
- c.489-1G>T Single submitter developmental and epileptic encephalopathy, 35
- c.49_66+4del Single submitter inosine triphosphatase deficiency
- c.67-2A>G Single submitter inosine triphosphatase deficiency
- p.Asp109Tyr Single submitter developmental and epileptic encephalopathy, 35
- p.Asp124fs Single submitter developmental and epileptic encephalopathy, 35
- p.Gln46fs Single submitter developmental and epileptic encephalopathy, 35
- p.Gln46Ter Single submitter developmental and epileptic encephalopathy, 35
- p.Leu5Ter Single submitter inosine triphosphatase deficiency
- p.Phe91Leu Single submitter developmental and epileptic encephalopathy, 35
Conflicting classifications of pathogenicity 7
- c.488+1G>A Single submitter inosine triphosphatase deficiency
- p.Arg139Gln Single submitter inosine triphosphatase deficiency ⚠
- p.Arg178Cys Single submitter infantile epileptic-dyskinetic encephalopathy ⚠
- p.Asn173fs Single submitter infantile epileptic-dyskinetic encephalopathy
- p.Gly85Ser Single submitter developmental and epileptic encephalopathy, 35 ⚠
- p.Thr163Met Single submitter developmental and epileptic encephalopathy, 35 ⚠
- p.Val24Ile Single submitter inosine triphosphatase deficiency ⚠
Benign 28
- c.411+168G>C Multiple submitters
- c.411+95G>A Multiple submitters
- c.488+73G>A Multiple submitters
- c.489-62T>A Multiple submitters
- c.67-128C>T Multiple submitters
- c.67-141G>A Multiple submitters
- c.67-83G>A Multiple submitters
- c.-272+303G>A Multiple submitters
- c.-272+360C>G Multiple submitters
- c.*123G>A Multiple submitters inosine triphosphatase deficiency
- c.*68C>T Multiple submitters
- p.Gln46= Multiple submitters inosine triphosphatase deficiency
- p.Glu187= Multiple submitters inosine triphosphatase deficiency
- c.189+144G>A Single submitter
- c.190-190C>T Single submitter
- c.264-12T>G Single submitter inosine triphosphatase deficiency
- c.411+425G>A Single submitter
- c.412-298T>C Single submitter
- c.412-358T>C Single submitter
- c.412-418C>T Single submitter
- c.412-521C>T Single submitter
- c.488+170G>A Single submitter
- c.489-5del Single submitter inosine triphosphatase deficiency
- c.67-198G>A Single submitter
- c.-272+406C>T Single submitter
- p.Ala105= Single submitter inosine triphosphatase deficiency
- p.Arg180Gln Single submitter inosine triphosphatase deficiency ⚠
- c.*40G>C No assertion criteria ITPA-related disorder
Benign/Likely benign 5
- c.264-11_264-8del Multiple submitters inosine triphosphatase deficiency
- p.Arg180= Multiple submitters inosine triphosphatase deficiency
- p.Asn78Ser Multiple submitters inosine triphosphatase deficiency
- p.Glu93Gly Multiple submitters inosine triphosphatase deficiency ⚠
- p.Pro97= Multiple submitters inosine triphosphatase deficiency
Likely benign 128
- c.125-25T>C Multiple submitters inosine triphosphatase deficiency
- c.190-7G>A Multiple submitters inosine triphosphatase deficiency
- p.Arg178= Multiple submitters inosine triphosphatase deficiency
- p.Cys74= Multiple submitters inosine triphosphatase deficiency
- p.Ile140= Multiple submitters inosine triphosphatase deficiency
- p.Leu42= Multiple submitters inosine triphosphatase deficiency
- p.Phe132= Multiple submitters inosine triphosphatase deficiency
- p.Pro32= Multiple submitters inosine triphosphatase deficiency
- p.Pro67= Multiple submitters inosine triphosphatase deficiency
- p.Pro86= Multiple submitters inosine triphosphatase deficiency
- p.Ser53= Multiple submitters inosine triphosphatase deficiency
- c.124+11G>C Single submitter inosine triphosphatase deficiency
- c.124+13T>C Single submitter inosine triphosphatase deficiency
- c.124+16_124+20del Single submitter inosine triphosphatase deficiency
- c.124+20T>C Single submitter inosine triphosphatase deficiency
- c.124+7C>T Single submitter inosine triphosphatase deficiency
- c.125-12T>G Single submitter inosine triphosphatase deficiency
- c.125-16C>G Single submitter inosine triphosphatase deficiency
- c.125-17T>A Single submitter inosine triphosphatase deficiency
- c.125-8C>G Single submitter inosine triphosphatase deficiency
- c.189+10C>T Single submitter inosine triphosphatase deficiency
- c.189+11T>G Single submitter inosine triphosphatase deficiency
- c.189+12G>C Single submitter inosine triphosphatase deficiency
- c.189+12G>T Single submitter inosine triphosphatase deficiency
- c.189+16T>C Single submitter inosine triphosphatase deficiency
- c.189+8C>T Single submitter inosine triphosphatase deficiency
- c.263+10T>C Single submitter inosine triphosphatase deficiency
- c.263+13C>G Single submitter inosine triphosphatase deficiency
- c.263+13C>T Single submitter inosine triphosphatase deficiency
- c.263+15C>T Single submitter inosine triphosphatase deficiency
- c.263+16C>T Single submitter inosine triphosphatase deficiency
- c.263+19C>T Single submitter inosine triphosphatase deficiency
- c.263+20C>A Single submitter inosine triphosphatase deficiency
- c.264-13C>A Single submitter inosine triphosphatase deficiency
- c.295+10G>T Single submitter inosine triphosphatase deficiency
- c.295+11C>T Single submitter inosine triphosphatase deficiency
- c.295+16T>C Single submitter inosine triphosphatase deficiency
- c.296-10C>T Single submitter inosine triphosphatase deficiency
- c.296-11C>T Single submitter inosine triphosphatase deficiency
- c.296-18C>G Single submitter inosine triphosphatase deficiency
- c.296-18C>T Single submitter inosine triphosphatase deficiency
- c.296-19C>T Single submitter inosine triphosphatase deficiency
- c.296-20C>T Single submitter inosine triphosphatase deficiency
- c.296-4G>A Single submitter inosine triphosphatase deficiency
- c.296-6C>T Single submitter inosine triphosphatase deficiency
- c.296-8A>G Single submitter inosine triphosphatase deficiency
- c.411+11A>C Single submitter inosine triphosphatase deficiency
- c.411+12C>G Single submitter inosine triphosphatase deficiency
- c.411+13C>A Single submitter inosine triphosphatase deficiency
- c.411+18T>C Single submitter inosine triphosphatase deficiency
- c.412-10C>A Single submitter inosine triphosphatase deficiency
- c.412-15C>A Single submitter
- c.412-15C>T Single submitter inosine triphosphatase deficiency
- c.412-16C>A Single submitter inosine triphosphatase deficiency
- c.412-17C>A Single submitter inosine triphosphatase deficiency
- c.412-18C>A Single submitter inosine triphosphatase deficiency
- c.488+11C>G Single submitter inosine triphosphatase deficiency
- c.488+17_488+21del Single submitter inosine triphosphatase deficiency
- c.488+20T>A Single submitter inosine triphosphatase deficiency
- c.488+9C>A Single submitter inosine triphosphatase deficiency
- c.489-16T>C Single submitter inosine triphosphatase deficiency
- c.489-18G>T Single submitter inosine triphosphatase deficiency
- c.489-6C>T Single submitter inosine triphosphatase deficiency
- c.489-8C>T Single submitter inosine triphosphatase deficiency
- c.489-9del Single submitter inosine triphosphatase deficiency
- c.66+10G>A Single submitter inosine triphosphatase deficiency
- c.66+10G>C Single submitter inosine triphosphatase deficiency
- c.66+12_66+14dup Single submitter inosine triphosphatase deficiency
- c.66+15T>C Single submitter inosine triphosphatase deficiency
- c.66+16T>G Single submitter inosine triphosphatase deficiency
- c.66+17G>A Single submitter inosine triphosphatase deficiency
- c.66+18G>A Single submitter inosine triphosphatase deficiency
- c.67-12_67-8del Single submitter inosine triphosphatase deficiency
- c.67-19C>T Single submitter inosine triphosphatase deficiency
- c.67-9T>C Single submitter inosine triphosphatase deficiency
- c.*46G>T Single submitter
- c.*98A>G Single submitter
- p.Ala114= Single submitter inosine triphosphatase deficiency
- p.Ala119= Single submitter inosine triphosphatase deficiency
- p.Ala170= Single submitter inosine triphosphatase deficiency
- p.Ala17Ser Single submitter inosine triphosphatase deficiency
- p.Ala193= Single submitter inosine triphosphatase deficiency
- p.Ala2= Single submitter inosine triphosphatase deficiency
- p.Ala3= Single submitter inosine triphosphatase deficiency
- p.Arg133= Single submitter inosine triphosphatase deficiency
- p.Arg135= Single submitter inosine triphosphatase deficiency
- p.Arg139= Single submitter inosine triphosphatase deficiency
- p.Arg144= Single submitter inosine triphosphatase deficiency
- p.Asn16= Single submitter inosine triphosphatase deficiency
- p.Asn173= Single submitter inosine triphosphatase deficiency
- p.Asp152= Single submitter inosine triphosphatase deficiency
- p.Cys33= Single submitter inosine triphosphatase deficiency
- p.Gln65= Single submitter inosine triphosphatase deficiency
- p.Glu108= Single submitter inosine triphosphatase deficiency
- p.Glu161= Single submitter inosine triphosphatase deficiency
- p.Gly106= Single submitter inosine triphosphatase deficiency
- p.Gly134= Single submitter inosine triphosphatase deficiency
- p.Gly159= Single submitter inosine triphosphatase deficiency
- p.Gly190= Single submitter inosine triphosphatase deficiency
- p.Gly66= Single submitter inosine triphosphatase deficiency
- p.Ile52= Single submitter inosine triphosphatase deficiency
- p.Ile54= Single submitter inosine triphosphatase deficiency
- p.Leu103= Single submitter inosine triphosphatase deficiency
- p.Leu115= Single submitter inosine triphosphatase deficiency
- p.Leu183= Single submitter inosine triphosphatase deficiency
- p.Leu35= Single submitter inosine triphosphatase deficiency
- p.Leu5= Single submitter inosine triphosphatase deficiency
- p.Leu69= Single submitter inosine triphosphatase deficiency
- p.Leu83= Single submitter inosine triphosphatase deficiency
- p.Lys172= Single submitter inosine triphosphatase deficiency
- p.Lys39= Single submitter inosine triphosphatase deficiency
- p.Phe189= Single submitter inosine triphosphatase deficiency
- p.Phe31= Single submitter inosine triphosphatase deficiency
- p.Pro128= Single submitter inosine triphosphatase deficiency
- p.Pro143= Single submitter inosine triphosphatase deficiency
- p.Pro43= Single submitter inosine triphosphatase deficiency
- p.Pro49= Single submitter inosine triphosphatase deficiency
- p.Pro84= Single submitter inosine triphosphatase deficiency
- p.Ser126= Single submitter
- p.Ser126Asn Single submitter
- p.Ter195= Single submitter inosine triphosphatase deficiency
- p.Thr122= Single submitter inosine triphosphatase deficiency
- p.Thr14= Single submitter inosine triphosphatase deficiency
- p.Thr163= Single submitter
- p.Tyr164= Single submitter inosine triphosphatase deficiency
- p.Tyr45= Single submitter inosine triphosphatase deficiency
- p.Val23= Single submitter inosine triphosphatase deficiency
- p.Val64= Single submitter inosine triphosphatase deficiency
Uncertain significance 113
- c.124+5G>A Multiple submitters developmental and epileptic encephalopathy, 35
- c.190-3C>A Multiple submitters inosine triphosphatase deficiency
- c.*53C>T Multiple submitters developmental and epileptic encephalopathy, 35
- p.Ala170Thr Multiple submitters inosine triphosphatase deficiency ⚠
- p.Ala170Val Multiple submitters inosine triphosphatase deficiency ⚠
- p.Arg133Gly Multiple submitters inosine triphosphatase deficiency ⚠
- p.Arg135Trp Multiple submitters inosine triphosphatase deficiency ⚠
- p.Arg180Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg62Cys Multiple submitters inosine triphosphatase deficiency ⚠
- p.Cys57Tyr Multiple submitters inosine triphosphatase deficiency ⚠
- p.Glu171Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly106Arg Multiple submitters inosine triphosphatase deficiency
- p.His101Arg Multiple submitters inosine triphosphatase deficiency ⚠
- p.Phe189Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro128Leu Multiple submitters inosine triphosphatase deficiency ⚠
- p.Pro153His Multiple submitters inosine triphosphatase deficiency ⚠
- p.Pro43Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro49Leu Multiple submitters inosine triphosphatase deficiency ⚠
- p.Thr34Ala Multiple submitters inosine triphosphatase deficiency ⚠
- p.Thr34Asn Multiple submitters inosine triphosphatase deficiency ⚠
- p.Val141Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val175Leu Multiple submitters ITPA-related disorder ⚠
- p.Val61Phe Multiple submitters inosine triphosphatase deficiency ⚠
- p.Val64Leu Multiple submitters Inborn genetic diseases ⚠
- c.125-5A>G Single submitter inosine triphosphatase deficiency
- c.189+4C>G Single submitter
- c.190-12T>G Single submitter inosine triphosphatase deficiency
- c.411+4C>T Single submitter inosine triphosphatase deficiency
- c.411+5G>A Single submitter inosine triphosphatase deficiency
- c.411+5G>C Single submitter inosine triphosphatase deficiency
- c.411+6T>C Single submitter inosine triphosphatase deficiency
- c.489-8C>G Single submitter inosine triphosphatase deficiency
- c.66+3G>C Single submitter developmental and epileptic encephalopathy, 35
- c.66+5C>T Single submitter inosine triphosphatase deficiency
- c.66+8G>T Single submitter inosine triphosphatase deficiency
- p.Ala165Thr Single submitter inosine triphosphatase deficiency ⚠
- p.Ala174Thr Single submitter inosine triphosphatase deficiency ⚠
- p.Ala174Val Single submitter inosine triphosphatase deficiency ⚠
- p.Ala193Gly Single submitter inosine triphosphatase deficiency ⚠
- p.Ala194Ser Single submitter inosine triphosphatase deficiency ⚠
- p.Ala2Glu Single submitter inosine triphosphatase deficiency ⚠
- p.Ala37Thr Single submitter inosine triphosphatase deficiency ⚠
- p.Ala37Val Single submitter inosine triphosphatase deficiency ⚠
- p.Ala79Val Single submitter Inborn genetic diseases ⚠
- p.Arg130Cys Single submitter inosine triphosphatase deficiency ⚠
- p.Arg130His Single submitter inosine triphosphatase deficiency ⚠
- p.Arg135Gln Single submitter inosine triphosphatase deficiency ⚠
- p.Arg139Trp Single submitter inosine triphosphatase deficiency ⚠
- p.Arg144Lys Single submitter inosine triphosphatase deficiency ⚠
- p.Arg178His Single submitter inosine triphosphatase deficiency ⚠
- p.Asn78Ile Single submitter inosine triphosphatase deficiency
- p.Asp109Glu Single submitter inosine triphosphatase deficiency ⚠
- p.Asp124Gly Single submitter ⚠
- p.Asp124Val Single submitter inosine triphosphatase deficiency ⚠
- p.Asp148Tyr Single submitter inosine triphosphatase deficiency ⚠
- p.Asp152His Single submitter Inborn genetic diseases ⚠
- p.Asp72Gly Single submitter developmental and epileptic encephalopathy, 35 ⚠
- p.Cys74Phe Single submitter developmental and epileptic encephalopathy, 35 ⚠
- p.Gln102His Single submitter inosine triphosphatase deficiency ⚠
- p.Gln127His Single submitter inosine triphosphatase deficiency ⚠
- p.Gln156His Single submitter inosine triphosphatase deficiency ⚠
- p.Gln186Arg Single submitter inosine triphosphatase deficiency ⚠
- p.Gln38Arg Single submitter Inborn genetic diseases ⚠
- p.Gln46Arg Single submitter ⚠
- p.Gln55His Single submitter inosine triphosphatase deficiency ⚠
- p.Glu108Gly Single submitter inosine triphosphatase deficiency ⚠
- p.Glu22= Single submitter inosine triphosphatase deficiency
- p.Glu51Lys Single submitter inosine triphosphatase deficiency ⚠
- p.Glu59Gln Single submitter inosine triphosphatase deficiency ⚠
- p.Glu71Gln Single submitter ⚠
- p.Glu93Gln Single submitter inosine triphosphatase deficiency ⚠
- p.Glu98Asp Single submitter inosine triphosphatase deficiency ⚠
- p.Gly134Asp Single submitter ⚠
- p.His177Tyr Single submitter ⚠
- p.Ile52Thr Single submitter Inborn genetic diseases ⚠
- p.Ile54Val Single submitter inosine triphosphatase deficiency ⚠
- p.Ile88Leu Single submitter ⚠
- p.Leu103Phe Single submitter inosine triphosphatase deficiency ⚠
- p.Leu104Pro Single submitter inosine triphosphatase deficiency ⚠
- p.Leu115Phe Single submitter inosine triphosphatase deficiency ⚠
- p.Leu182Pro Single submitter ⚠
- p.Leu20Met Single submitter Inborn genetic diseases ⚠
- p.Leu42Pro Single submitter inosine triphosphatase deficiency ⚠
- p.Leu69del Single submitter developmental and epileptic encephalopathy, 35
- p.Leu69Pro Single submitter inosine triphosphatase deficiency ⚠
- p.Leu92Pro Single submitter developmental and epileptic encephalopathy, 35 ⚠
- p.Leu95Phe Single submitter inosine triphosphatase deficiency ⚠
- p.Lys169Asn Single submitter inosine triphosphatase deficiency ⚠
- p.Lys39Asn Single submitter inosine triphosphatase deficiency ⚠
- p.Met1_Ala2delinsTrp Single submitter developmental and epileptic encephalopathy, 35
- p.Met1Val Single submitter inosine triphosphatase deficiency
- p.Phe12Leu Single submitter inosine triphosphatase deficiency ⚠
- p.Phe132Leu Single submitter inosine triphosphatase deficiency ⚠
- p.Pro157Ser Single submitter inosine triphosphatase deficiency ⚠
- p.Pro67Thr Single submitter inosine triphosphatase deficiency ⚠
- p.Ser121Arg Single submitter inosine triphosphatase deficiency ⚠
- p.Ser121Asn Single submitter inosine triphosphatase deficiency ⚠
- p.Ser137= Single submitter
- p.Ser137Glu Single submitter inosine triphosphatase deficiency
- p.Ser176Pro Single submitter inosine triphosphatase deficiency ⚠
- p.Ter195Leu Single submitter
- p.Ter195TrpextTer? Single submitter inosine triphosphatase deficiency
- p.Thr117Lys Single submitter inosine triphosphatase deficiency ⚠
- p.Thr14Met Single submitter Inborn genetic diseases ⚠
- p.Tyr113His Single submitter inosine triphosphatase deficiency ⚠
- p.Tyr160Phe Single submitter inosine triphosphatase deficiency ⚠
- p.Tyr87Asp Single submitter inosine triphosphatase deficiency ⚠
- p.Val129Leu Single submitter inosine triphosphatase deficiency ⚠
- p.Val129Met Single submitter inosine triphosphatase deficiency ⚠
- p.Val175Gly Single submitter ⚠
- p.Val175Ile Single submitter inosine triphosphatase deficiency ⚠
- p.Val23Ile Single submitter inosine triphosphatase deficiency ⚠
- p.Val36Met Single submitter inosine triphosphatase deficiency ⚠