NAPRT — 113 ClinVar variants
All ClinVar germline NAPRT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
2 Benign · 1 Benign/Likely benign · 6 Likely benign · 104 Uncertain significance
Full NAPRT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAPRT p.Ala13Gly Uncertain significance Single submitter
- NAPRT p.Ala159Thr Uncertain significance Single submitter
- NAPRT p.Ala231Val Uncertain significance Single submitter
- NAPRT p.Ala234Pro Uncertain significance Single submitter
- NAPRT p.Ala23Thr Uncertain significance Single submitter
- NAPRT p.Ala243Val Uncertain significance Single submitter
- NAPRT p.Ala26Val Uncertain significance Single submitter
- NAPRT p.Ala2Thr Uncertain significance Single submitter
- NAPRT p.Ala328Asp Uncertain significance Single submitter
- NAPRT p.Ala337Val Uncertain significance Single submitter
- NAPRT p.Ala338Ser Uncertain significance Single submitter
- NAPRT p.Ala364Thr Uncertain significance Single submitter
- NAPRT p.Ala422Thr Uncertain significance Single submitter
- NAPRT p.Ala53Val Uncertain significance Single submitter
- NAPRT p.Ala58Gly Uncertain significance Single submitter
- NAPRT p.Ala81Ser Uncertain significance Single submitter
- NAPRT p.Arg156Leu Uncertain significance Single submitter
- NAPRT p.Arg203Gln Uncertain significance Single submitter
- NAPRT p.Arg269Gln Uncertain significance Single submitter
- NAPRT p.Arg281Leu Uncertain significance Single submitter
- NAPRT p.Arg313Gln Uncertain significance Single submitter
- NAPRT p.Arg336Gln Uncertain significance Single submitter
- NAPRT p.Arg34Gln Uncertain significance Single submitter
- NAPRT p.Arg365Gln Uncertain significance Single submitter
- NAPRT p.Arg36Gln Uncertain significance Single submitter
- NAPRT p.Arg425Trp Uncertain significance Single submitter
- NAPRT p.Arg475Gln Uncertain significance Single submitter
- NAPRT p.Arg503Gly Uncertain significance Single submitter
- NAPRT p.Arg510Gln Uncertain significance Single submitter
- NAPRT p.Arg512Trp Uncertain significance Single submitter
- NAPRT p.Arg61Ser Uncertain significance Single submitter
- NAPRT p.Arg65His Uncertain significance Single submitter
- NAPRT p.Asp100Glu Uncertain significance Single submitter
- NAPRT p.Asp19His Uncertain significance Single submitter
- NAPRT p.Asp241Asn Uncertain significance Single submitter
- NAPRT p.Asp436Val Uncertain significance Single submitter
- NAPRT p.Gln343Arg Uncertain significance Single submitter
- NAPRT p.Gln388Glu Uncertain significance Single submitter
- NAPRT p.Glu361Lys Uncertain significance Single submitter
- NAPRT p.Glu410Lys Uncertain significance Single submitter
- NAPRT p.Glu485Gly Uncertain significance Single submitter
- NAPRT p.Glu507Lys Uncertain significance Single submitter
- NAPRT p.Gly28Ser Uncertain significance Single submitter
- NAPRT p.Gly379Ser Uncertain significance Single submitter
- NAPRT p.Ile158Met Uncertain significance Single submitter
- NAPRT p.Leu121Arg Uncertain significance Single submitter
- NAPRT p.Leu128Arg Uncertain significance Single submitter
- NAPRT p.Leu134Val Uncertain significance Single submitter
- NAPRT p.Leu138Gln Uncertain significance Single submitter
- NAPRT p.Leu141Arg Uncertain significance Single submitter
- NAPRT p.Leu417Met Uncertain significance Single submitter
- NAPRT p.Leu499Met Uncertain significance Single submitter
- NAPRT p.Leu528Pro Uncertain significance Single submitter
- NAPRT p.Met435Thr Uncertain significance Single submitter
- NAPRT p.Met437Ile Uncertain significance Single submitter
- NAPRT p.Phe191Leu Uncertain significance Single submitter
- NAPRT p.Phe44Tyr Uncertain significance Single submitter
- NAPRT p.Pro137Ala Uncertain significance Single submitter
- NAPRT p.Pro226Ser Uncertain significance Single submitter
- NAPRT p.Pro386Leu Uncertain significance Single submitter
- NAPRT p.Pro386Ser Uncertain significance Single submitter
- NAPRT p.Pro456Leu Uncertain significance Single submitter
- NAPRT p.Pro7Leu Uncertain significance Single submitter
- NAPRT p.Pro86Ser Uncertain significance Single submitter
- NAPRT p.Ser125Ala Uncertain significance Single submitter
- NAPRT p.Ser214Tyr Uncertain significance Single submitter
- NAPRT p.Ser291Gly Uncertain significance Single submitter
- NAPRT p.Thr184Ile Uncertain significance Single submitter
- NAPRT p.Tyr312Cys Uncertain significance Single submitter
- NAPRT p.Val315Met Uncertain significance Single submitter
- NAPRT p.Val344Leu Uncertain significance Single submitter
- NAPRT p.Val394Ile Uncertain significance Single submitter
- NAPRT p.Val529Ala Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- NAPRT p.Ala302Thr Uncertain significance Single submitter
- NAPRT p.Ala306Ser Uncertain significance Single submitter
- NAPRT p.Ala81Asp Uncertain significance Single submitter
- NAPRT p.Arg156Cys Uncertain significance Single submitter
- NAPRT p.Arg156His Uncertain significance Single submitter
- NAPRT p.Arg281Trp Uncertain significance Single submitter
- NAPRT p.Asn151Lys Uncertain significance Single submitter
- NAPRT p.Asp192Asn Uncertain significance Single submitter
- NAPRT p.Gly221Asp Uncertain significance Single submitter
- NAPRT p.Gly52Arg Uncertain significance Single submitter
- NAPRT p.Leu138Met Uncertain significance Single submitter
- NAPRT p.Leu427Arg Uncertain significance Single submitter
- NAPRT p.Leu427Pro Uncertain significance Single submitter
- NAPRT p.Phe50Leu Uncertain significance Single submitter
- NAPRT p.Pro15Gln Uncertain significance Single submitter
- NAPRT p.Pro15Leu Uncertain significance Single submitter
- NAPRT p.Pro298Leu Uncertain significance Single submitter
- NAPRT p.Ser194Asn Uncertain significance Single submitter
- NAPRT p.Ser493Phe Uncertain significance Single submitter
- NAPRT p.Tyr144His Uncertain significance Single submitter
- NAPRT p.Tyr290Cys Uncertain significance Single submitter
- NAPRT p.Val465Met Uncertain significance Single submitter
All NAPRT variants
Benign 2
- c.1447-7C>G Multiple submitters
- p.Asp320= Multiple submitters
Benign/Likely benign 1
- p.Pro117= Multiple submitters
Likely benign 6
- p.Arg503Gln Single submitter
- p.Arg512Gln Single submitter
- p.Arg73Gln Single submitter
- p.Asp37Glu Single submitter
- p.Cys533Arg Single submitter
- p.Leu499Gln Single submitter
Uncertain significance 104
- p.Ala13Gly Single submitter ⚠
- p.Ala159Thr Single submitter ⚠
- p.Ala231Val Single submitter ⚠
- p.Ala234Pro Single submitter ⚠
- p.Ala23Thr Single submitter ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala26Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala306Ser Single submitter ⚠
- p.Ala328Asp Single submitter ⚠
- p.Ala337Val Single submitter ⚠
- p.Ala338Ser Single submitter ⚠
- p.Ala364Thr Single submitter ⚠
- p.Ala422Thr Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala58Gly Single submitter ⚠
- p.Ala81Asp Single submitter ⚠
- p.Ala81Ser Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg156Leu Single submitter ⚠
- p.Arg172Gln Single submitter
- p.Arg203Gln Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg281Leu Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg313Gln Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Arg365Gln Single submitter ⚠
- p.Arg36Gln Single submitter ⚠
- p.Arg425Trp Single submitter ⚠
- p.Arg475Gln Single submitter ⚠
- p.Arg503Gly Single submitter ⚠
- p.Arg510Gln Single submitter ⚠
- p.Arg512Trp Single submitter ⚠
- p.Arg61Ser Single submitter ⚠
- p.Arg65His Single submitter ⚠
- p.Asn151Lys Single submitter ⚠
- p.Asn299Thr Single submitter
- p.Asp100Glu Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp19His Single submitter ⚠
- p.Asp241Asn Single submitter ⚠
- p.Asp436fs Single submitter
- p.Asp436Val Single submitter ⚠
- p.Gln132Glu Single submitter
- p.Gln343Arg Single submitter ⚠
- p.Gln388Glu Single submitter ⚠
- p.Glu361Lys Single submitter ⚠
- p.Glu410Lys Single submitter ⚠
- p.Glu485Gly Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Gly221Asp Single submitter ⚠
- p.Gly28Ser Single submitter ⚠
- p.Gly379Ser Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Ile158Met Single submitter ⚠
- p.Ile378Thr Single submitter
- p.Leu121Arg Single submitter ⚠
- p.Leu128Arg Single submitter ⚠
- p.Leu134Val Single submitter ⚠
- p.Leu138Gln Single submitter ⚠
- p.Leu138Met Single submitter ⚠
- p.Leu141Arg Single submitter ⚠
- p.Leu417Met Single submitter ⚠
- p.Leu427Arg Single submitter ⚠
- p.Leu427Pro Single submitter ⚠
- p.Leu499Met Single submitter ⚠
- p.Leu528Pro Single submitter ⚠
- p.Met435Thr Single submitter ⚠
- p.Met437Ile Single submitter ⚠
- p.Phe191Leu Single submitter ⚠
- p.Phe44Tyr Single submitter ⚠
- p.Phe50Leu Single submitter ⚠
- p.Pro127Ser Single submitter
- p.Pro137Ala Single submitter ⚠
- p.Pro15Gln Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro226Ser Single submitter ⚠
- p.Pro298Leu Single submitter ⚠
- p.Pro386Leu Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro389Leu Single submitter
- p.Pro456Leu Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser125Ala Single submitter ⚠
- p.Ser194Asn Single submitter ⚠
- p.Ser214Tyr Single submitter ⚠
- p.Ser291Gly Single submitter ⚠
- p.Ser493Phe Single submitter ⚠
- p.Ser82Trp Single submitter
- p.Thr184Ile Single submitter ⚠
- p.Tyr144His Single submitter ⚠
- p.Tyr290Cys Single submitter ⚠
- p.Tyr29Cys Single submitter
- p.Tyr312Cys Single submitter ⚠
- p.Val315Met Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val394Ile Single submitter ⚠
- p.Val465Met Single submitter ⚠
- p.Val529Ala Single submitter ⚠