PRPS1 — 350 ClinVar variants
All ClinVar germline PRPS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
18 Pathogenic · 6 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 9 Conflicting · 15 Benign · 16 Benign/Likely benign · 138 Likely benign · 123 Uncertain significance
Full PRPS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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.
-
PRPS1 p.Asn114Ser
Likely pathogenic
Multiple submitters
Inborn genetic diseases
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRPS1 p.Arg196Gln
Conflicting
Single submitter
PRPS1-related disorder
-
PRPS1 p.Arg96Gln
Conflicting
Single submitter
PRPS1 deficiency disorder
-
PRPS1 p.Arg96Trp
Conflicting
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asp128Val
Conflicting
Single submitter
PRPS1-related disorder
-
PRPS1 p.Pro90Leu
Conflicting
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ser132Phe
Conflicting
Single submitter
Charcot-Marie-Tooth Neuropathy X
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PRPS1 p.Ala216Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ala241Thr
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
PRPS1 p.Arg204Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Arg260Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Arg260His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Asp98Asn Uncertain significance Multiple submitters
-
PRPS1 p.Cys60Tyr
Uncertain significance
Multiple submitters
Arts syndrome
-
PRPS1 p.Pro106Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ser58Asn
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ser83Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Thr166Ile
Uncertain significance
Multiple submitters
phosphoribosylpyrophosphate synthetase superactivity
-
PRPS1 p.Thr225Ala
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Thr303Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Val269Leu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Val30Glu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Ala105Val Uncertain significance Single submitter
-
PRPS1 p.Ala172Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Ala175Thr Uncertain significance Single submitter
-
PRPS1 p.Ala223Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ala257Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ala82Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ala87Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Ala87Val Uncertain significance Single submitter
- PRPS1 p.Ala95Val Uncertain significance Single submitter
-
PRPS1 p.Arg49His
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asn305Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease X-linked recessive 5
-
PRPS1 p.Asn64Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asn64Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Asn75Thr Uncertain significance Single submitter
-
PRPS1 p.Asp128His
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asp171Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Asp220Gly Uncertain significance Single submitter
-
PRPS1 p.Asp221Asn
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asp224Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asp98Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Cys226Trp Uncertain significance Single submitter
-
PRPS1 p.Cys230Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Cys91Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Gln277Glu
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Gln277Leu Uncertain significance Single submitter
- PRPS1 p.Glu69Lys Uncertain significance Single submitter
- PRPS1 p.Gly240Asp Uncertain significance Single submitter
- PRPS1 p.Gly24Val Uncertain significance Single submitter
- PRPS1 p.Gly251Glu Uncertain significance Single submitter
-
PRPS1 p.Gly28Asp
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
PRPS1 p.Gly59Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Gly61Ala Uncertain significance Single submitter
- PRPS1 p.His304Gln Uncertain significance Single submitter
-
PRPS1 p.Ile134Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ile167Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ile252Asn
Uncertain significance
Single submitter
phosphoribosylpyrophosphate synthetase superactivity
-
PRPS1 p.Ile292Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ile79Thr
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- PRPS1 p.Leu116Val Uncertain significance Single submitter
-
PRPS1 p.Leu152Pro
Uncertain significance
Single submitter
Arts syndrome
-
PRPS1 p.Leu15Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Leu191Ser Uncertain significance Single submitter
- PRPS1 p.Leu296Pro Uncertain significance Single submitter
-
PRPS1 p.Met73Ile
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- PRPS1 p.Phe189Leu Uncertain significance Single submitter
-
PRPS1 p.Phe253Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Phe266Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Phe7Leu Uncertain significance Single submitter
-
PRPS1 p.Pro141Leu
Uncertain significance
Single submitter
Arts syndrome
-
PRPS1 p.Pro141Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease X-linked recessive 5
- PRPS1 p.Pro149Leu Uncertain significance Single submitter
-
PRPS1 p.Pro170Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Pro276His
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Ser293Phe Uncertain significance Single submitter
-
PRPS1 p.Ser308Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Thr40Ala Uncertain significance Single submitter
- PRPS1 p.Thr40Asn Uncertain significance Single submitter
- PRPS1 p.Thr86Ala Uncertain significance Single submitter
-
PRPS1 p.Tyr245His
Uncertain significance
Single submitter
Arts syndrome
- PRPS1 p.Tyr54His Uncertain significance Single submitter
- PRPS1 p.Val202Ala Uncertain significance Single submitter
-
PRPS1 p.Val215Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Val219Met Uncertain significance Single submitter
-
PRPS1 p.Val48Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Val112Leu Uncertain significance No assertion criteria
Predictors split 15
The independent predictors disagree with each other — read with care.
-
PRPS1 p.Arg214Gln
Uncertain significance
Multiple submitters
hearing loss, X-linked 1
- PRPS1 p.Lys29Gln Uncertain significance Multiple submitters
-
PRPS1 p.Val112Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Val309Ile
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
PRPS1 p.Asn262Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Asn273Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Asp101Asn Uncertain significance Single submitter
- PRPS1 p.Asp234Asn Uncertain significance Single submitter
- PRPS1 p.Gln277His Uncertain significance Single submitter
-
PRPS1 p.Gly50Glu
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
- PRPS1 p.Ile74Val Uncertain significance Single submitter
-
PRPS1 p.Lys197Arg
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
PRPS1 p.Met281Arg
Uncertain significance
Single submitter
Arts syndrome
-
PRPS1 p.Ser314Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
-
PRPS1 p.Ser83Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth Neuropathy X
All PRPS1 variants
Pathogenic 18
- p.Ser169Leu Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.307-2A>G Single submitter Inborn genetic diseases
- p.Ala113Ser Single submitter hearing loss, X-linked 1
- p.Ala190_Leu191insTer Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Trp154Ter Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val208fs Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val309Phe Single submitter Charcot-Marie-Tooth disease X-linked recessive 5
- p.Ala190Val No assertion criteria phosphoribosylpyrophosphate synthetase superactivity
- p.Asp52His No assertion criteria phosphoribosylpyrophosphate synthetase superactivity
- p.Asp65Asn No assertion criteria hearing loss, X-linked 1
- p.Gln133Pro No assertion criteria Arts syndrome
- p.Gln277Pro No assertion criteria Arts syndrome
- p.Glu43Asp No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 5
- p.His193Gln No assertion criteria phosphoribosylpyrophosphate synthetase superactivity
- p.Ile290Thr No assertion criteria hearing loss, X-linked 1
- p.Leu129Ile No assertion criteria phosphoribosylpyrophosphate synthetase superactivity
- p.Ser16Pro No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 5
- p.Val142Leu No assertion criteria Arts syndrome
Pathogenic/Likely pathogenic 6
- p.Arg196Trp Multiple submitters PRPS1-related disorder
- p.Arg214Trp Multiple submitters PRPS1-related disorder
- p.Arg84Trp Multiple submitters PRPS1-related disorder
- p.Met115Thr Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Met115Val Multiple submitters Charcot-Marie-Tooth disease X-linked recessive 5
- p.Gly306Arg No assertion criteria PRPS1-related disorder
Likely pathogenic 25
- p.Asn114Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile107Val Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.122+1G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala121Gly Single submitter PRPS1-related disorder
- p.Ala121Thr Single submitter
- p.Asp183His Single submitter Arts syndrome
- p.Asp52Ala Single submitter phosphoribosylpyrophosphate synthetase superactivity
- p.Cys165Arg Single submitter
- p.Glu43Lys Single submitter Arts syndrome
- p.Glu46Lys Single submitter PRPS1-related disorder
- p.Gly120Val Single submitter phosphoribosylpyrophosphate synthetase superactivity
- p.Gly9Arg Single submitter
- p.Ile192Asn Single submitter hearing loss, X-linked 1
- p.Ile72Ser Single submitter PRPS1-related disorder
- p.Ile72Thr Single submitter PRPS1-related disorder
- p.Leu145Val Single submitter phosphoribosylpyrophosphate synthetase superactivity
- p.Leu25Pro Single submitter
- p.Lys280Glu Single submitter hearing loss, X-linked 1
- p.Pro276Ala Single submitter hearing loss, X-linked 1
- p.Pro276Leu Single submitter PRPS1-related disorder
- p.Ser36Gly Single submitter PRPS1-related disorder
- p.Thr126Ile Single submitter phosphoribosylpyrophosphate synthetase superactivity
- p.Arg214Pro No assertion criteria inherited retinal dystrophy
- p.Pro276Ser No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 5
- p.Ser16Phe No assertion criteria inherited retinal dystrophy
Conflicting classifications of pathogenicity 9
- c.531-15C>A Single submitter Charcot-Marie-Tooth disease X-linked recessive 5
- c.705-4C>T Single submitter Nephrolithiasis/nephrocalcinosis
- c.*539G>C Single submitter Arts syndrome
- p.Arg196Gln Single submitter PRPS1-related disorder ⚠
- p.Arg96Gln Single submitter PRPS1 deficiency disorder ⚠
- p.Arg96Trp Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp128Val Single submitter PRPS1-related disorder ⚠
- p.Pro90Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser132Phe Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
Benign 15
- c.531-74C>T Multiple submitters
- c.865-234C>T Multiple submitters
- c.307-31G>C Single submitter
- c.531-14G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.531-38G>T Single submitter
- c.705-135_705-131del Single submitter
- c.705-9dup Single submitter Charcot-Marie-Tooth Neuropathy X
- c.864+179del Single submitter
- c.864+23del Single submitter Charcot-Marie-Tooth Neuropathy X
- c.864+41T>A Single submitter
- c.*158C>T Single submitter phosphoribosylpyrophosphate synthetase superactivity
- c.*178G>A Single submitter hearing loss, X-linked 1
- c.*725T>C Single submitter hearing loss, X-linked 1
- p.Pro90= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ser308= Single submitter Charcot-Marie-Tooth Neuropathy X
Benign/Likely benign 16
- c.123-16dup Multiple submitters Arts syndrome
- c.406-20G>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.531-15C>T Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.705-11T>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.705-16C>T Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.705-6C>T Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.864+10A>G Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Arg96= Multiple submitters Charcot-Marie-Tooth disease X-linked recessive 5
- p.Asp220= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Glu148= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Gly240= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ile159= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ile4= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Leu191= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Lys286= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ser314= Multiple submitters Nephrolithiasis/nephrocalcinosis
Likely benign 138
- c.864+61G>A Multiple submitters
- p.Ala105= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ala20= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ala257= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Asn263= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Gly45= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Gly59= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ile140= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ile290= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ile292= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Lys153= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Ser254= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Tyr94= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Val316= Multiple submitters Charcot-Marie-Tooth Neuropathy X
- c.122+10A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+11A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+11A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+13T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+15G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+16G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+17G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+18A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.122+254C>T Single submitter
- c.122+9C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.123-11C>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.123-36A>G Single submitter
- c.123-4G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.123-6T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.306+17A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.306+7G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.307-14T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.307-6A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.307-8C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.405+13G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.405+14C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.405+7G>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-13C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-14G>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-15A>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-17C>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-4A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.406-9T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+10A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+11A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+14_530+17dup Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+15A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+18A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+19T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.530+19T>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.531-11_531-10del Single submitter Charcot-Marie-Tooth Neuropathy X
- c.531-18A>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.531-19A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.531-21T>C Single submitter
- c.531-262C>T Single submitter
- c.531-9G>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.704+8T>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.705-5T>A Single submitter Charcot-Marie-Tooth Neuropathy X
- c.705-7C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.864+18G>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.864+7A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.864+9G>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-14T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-17C>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-19T>C Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-19T>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-20T>G Single submitter Charcot-Marie-Tooth Neuropathy X
- c.-45AGC[3] Single submitter
- p.Ala119= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala131= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala147= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala150= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala239= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala76= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala87= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ala95= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Arg204= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Arg243= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Arg84= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asn164= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asn200= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asn262= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asn37= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp122= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp21= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp210= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp213= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp224= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Cys165= Single submitter
- p.Cys60= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Cys77= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Cys91= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gln13= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gln57= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Glu157= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Glu26= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Glu278= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Glu39= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gly173= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gly227= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gly251= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gly61= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Gly9= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.His231= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.His315= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ile290Val Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ile300= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu111= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu116= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu145= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu15= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu152= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu185= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu23= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu27= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Leu312= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Lys18= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Lys198= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Lys280= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Lys29= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Lys33= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Phe189= Single submitter
- p.Phe253= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Pro149= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ser160= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ser8= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Ser83= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Thr126= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Thr225= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Thr32= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Thr40= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val112= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Val208= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val244= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val269= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val270= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val289= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val56= Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val88= Single submitter Charcot-Marie-Tooth Neuropathy X
Uncertain significance 123
- c.306+5G>T Multiple submitters phosphoribosylpyrophosphate synthetase superactivity
- c.*389G>A Multiple submitters Arts syndrome
- p.Ala216Thr Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala241Thr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg204Cys Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Arg204His Multiple submitters Charcot-Marie-Tooth Neuropathy X
- p.Arg214Gln Multiple submitters hearing loss, X-linked 1 ⚠
- p.Arg260Cys Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Arg260His Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp98Asn Multiple submitters ⚠
- p.Cys60Tyr Multiple submitters Arts syndrome ⚠
- p.Lys29Gln Multiple submitters ⚠
- p.Pro106Thr Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser58Asn Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser83Cys Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Thr166Ile Multiple submitters phosphoribosylpyrophosphate synthetase superactivity ⚠
- p.Thr225Ala Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Thr303Ile Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Val112Ile Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Val269Leu Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- p.Val309Ile Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Val30Glu Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
- c.307-13C>T Single submitter
- c.530+1G>A Single submitter Inborn genetic diseases
- c.704+6del Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-2A>T Single submitter Charcot-Marie-Tooth Neuropathy X
- c.865-3T>C Single submitter
- c.*137C>T Single submitter phosphoribosylpyrophosphate synthetase superactivity
- c.*159G>A Single submitter hearing loss, X-linked 1
- c.*166G>A Single submitter hearing loss, X-linked 1
- c.*389G>C Single submitter hearing loss, X-linked 1
- c.*423T>A Single submitter hearing loss, X-linked 1
- c.*508G>C Single submitter hearing loss, X-linked 1
- c.*538G>C Single submitter hearing loss, X-linked 1
- c.*538G>T Single submitter hearing loss, X-linked 1
- c.*539G>T Single submitter Arts syndrome
- c.*608C>T Single submitter hearing loss, X-linked 1
- c.*685C>T Single submitter
- c.*726C>T Single submitter phosphoribosylpyrophosphate synthetase superactivity
- c.*762G>T Single submitter hearing loss, X-linked 1
- c.*88C>T Single submitter Arts syndrome
- p.Ala105Val Single submitter ⚠
- p.Ala172Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala175Thr Single submitter ⚠
- p.Ala223Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala257Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala82Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala87Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ala87Val Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg49His Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asn262Ser Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asn273Asp Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asn305Asp Single submitter Charcot-Marie-Tooth disease X-linked recessive 5 ⚠
- p.Asn305Ser Single submitter
- p.Asn64Asp Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asn64Ile Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asn75Thr Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp128His Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp171Tyr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp220Gly Single submitter ⚠
- p.Asp221Asn Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp224Gly Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Asp234Asn Single submitter ⚠
- p.Asp234del Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Asp98Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Cys226Trp Single submitter ⚠
- p.Cys230Arg Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Cys91Tyr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Gln277Glu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Gln277His Single submitter ⚠
- p.Gln277Leu Single submitter ⚠
- p.Glu69Lys Single submitter ⚠
- p.Gly240Asp Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly251Glu Single submitter ⚠
- p.Gly28Asp Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly50Glu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Gly59Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Gly61Ala Single submitter ⚠
- p.His304Gln Single submitter ⚠
- p.Ile134Met Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ile167Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ile252Asn Single submitter phosphoribosylpyrophosphate synthetase superactivity ⚠
- p.Ile292Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ile74Val Single submitter ⚠
- p.Ile79Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu116Val Single submitter ⚠
- p.Leu152Pro Single submitter Arts syndrome ⚠
- p.Leu15Phe Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Leu191Ser Single submitter ⚠
- p.Leu296Pro Single submitter ⚠
- p.Lys197Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys99Arg Single submitter
- p.Met281Arg Single submitter Arts syndrome ⚠
- p.Met73Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Phe189Leu Single submitter ⚠
- p.Phe253del Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Phe253Tyr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Phe266Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Phe7Leu Single submitter ⚠
- p.Pro141Leu Single submitter Arts syndrome ⚠
- p.Pro141Ser Single submitter Charcot-Marie-Tooth disease X-linked recessive 5 ⚠
- p.Pro149Leu Single submitter ⚠
- p.Pro170Ser Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Pro276His Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser293Phe Single submitter ⚠
- p.Ser308Pro Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser314Cys Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Ser83Ile Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Thr40Ala Single submitter ⚠
- p.Thr40Asn Single submitter ⚠
- p.Thr86Ala Single submitter ⚠
- p.Tyr245His Single submitter Arts syndrome ⚠
- p.Tyr54His Single submitter ⚠
- p.Val202Ala Single submitter ⚠
- p.Val215Met Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Val219Met Single submitter ⚠
- p.Val289fs Single submitter Charcot-Marie-Tooth Neuropathy X
- p.Val31fs Single submitter
- p.Val48Ala Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
- p.Val112Leu No assertion criteria ⚠