NPEPPS — 78 ClinVar variants
All ClinVar germline NPEPPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
5 Benign · 6 Likely benign · 67 Uncertain significance
Full NPEPPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NPEPPS p.Ala236Ser Uncertain significance Single submitter
- NPEPPS p.Ala275Val Uncertain significance Single submitter
- NPEPPS p.Ala315Thr Uncertain significance Single submitter
- NPEPPS p.Ala6Pro Uncertain significance Single submitter
- NPEPPS p.Ala720Thr Uncertain significance Single submitter
- NPEPPS p.Ala785Thr Uncertain significance Single submitter
- NPEPPS p.Arg13Gly Uncertain significance Single submitter
- NPEPPS p.Arg13Leu Uncertain significance Single submitter
- NPEPPS p.Arg31Gly Uncertain significance Single submitter
- NPEPPS p.Arg590Trp Uncertain significance Single submitter
- NPEPPS p.Arg606His Uncertain significance Single submitter
- NPEPPS p.Arg727Cys Uncertain significance Single submitter
- NPEPPS p.Arg841Gln Uncertain significance Single submitter
- NPEPPS p.Asn297Ser Uncertain significance Single submitter
- NPEPPS p.Asn472Ser Uncertain significance Single submitter
- NPEPPS p.Asn62Ser Uncertain significance Single submitter
- NPEPPS p.Asp790His Uncertain significance Single submitter
- NPEPPS p.Gln737His Uncertain significance Single submitter
- NPEPPS p.Gln85Arg Uncertain significance Single submitter
- NPEPPS p.Glu514Lys Uncertain significance Single submitter
- NPEPPS p.Glu873Gln Uncertain significance Single submitter
- NPEPPS p.His668Asp Uncertain significance Single submitter
- NPEPPS p.Ile419Val Uncertain significance Single submitter
- NPEPPS p.Ile452Phe Uncertain significance Single submitter
- NPEPPS p.Ile61Asn Uncertain significance Single submitter
- NPEPPS p.Ile762Thr Uncertain significance Single submitter
- NPEPPS p.Ile762Val Uncertain significance Single submitter
- NPEPPS p.Leu15Pro Uncertain significance Single submitter
- NPEPPS p.Leu37Phe Uncertain significance Single submitter
- NPEPPS p.Leu752Met Uncertain significance Single submitter
- NPEPPS p.Leu80Val Uncertain significance Single submitter
- NPEPPS p.Lys458Arg Uncertain significance Single submitter
- NPEPPS p.Lys556Asn Uncertain significance Single submitter
- NPEPPS p.Lys715Arg Uncertain significance Single submitter
- NPEPPS p.Lys768Gln Uncertain significance Single submitter
- NPEPPS p.Phe457Leu Uncertain significance Single submitter
- NPEPPS p.Pro225Ser Uncertain significance Single submitter
- NPEPPS p.Pro552Ser Uncertain significance Single submitter
- NPEPPS p.Thr405Pro Uncertain significance Single submitter
- NPEPPS p.Thr669Ala Uncertain significance Single submitter
- NPEPPS p.Tyr244Asn Uncertain significance Single submitter
- NPEPPS p.Tyr404Ser Uncertain significance Single submitter
- NPEPPS p.Tyr507Cys Uncertain significance Single submitter
- NPEPPS p.Val272Ala Uncertain significance Single submitter
- NPEPPS p.Val493Met Uncertain significance Single submitter
- NPEPPS p.Val569Ile Uncertain significance Single submitter
- NPEPPS p.Val782Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- NPEPPS p.Ala555Gly Uncertain significance Single submitter
- NPEPPS p.Arg343His Uncertain significance Single submitter
- NPEPPS p.Arg406His Uncertain significance Single submitter
- NPEPPS p.Arg824Ser Uncertain significance Single submitter
- NPEPPS p.Arg912Gln Uncertain significance Single submitter
- NPEPPS p.Asn658Lys Uncertain significance Single submitter
- NPEPPS p.Asp702Asn Uncertain significance Single submitter
- NPEPPS p.Glu889Asp Uncertain significance Single submitter
- NPEPPS p.Lys208Glu Uncertain significance Single submitter
- NPEPPS p.Phe255Ser Uncertain significance Single submitter
- NPEPPS p.Ser64Ile Uncertain significance Single submitter
- NPEPPS p.Tyr748Phe Uncertain significance Single submitter
All NPEPPS variants
Benign 5
- p.Ala330= Multiple submitters
- p.Gln357= Multiple submitters
- p.Leu40= Multiple submitters
- c.1096-8G>C Single submitter
- c.2239-4G>T Single submitter
Likely benign 6
- p.Asp73= Multiple submitters
- c.1095+14_1095+33del Single submitter
- c.256-7C>T Single submitter
- p.Phe29Leu Single submitter
- p.Thr141= Single submitter
- p.Val28Leu Single submitter
Uncertain significance 67
- p.Ala236Ser Single submitter ⚠
- p.Ala275Val Single submitter ⚠
- p.Ala315Thr Single submitter ⚠
- p.Ala555Gly Single submitter ⚠
- p.Ala6Pro Single submitter ⚠
- p.Ala720Thr Single submitter ⚠
- p.Ala785Thr Single submitter ⚠
- p.Arg13Gly Single submitter ⚠
- p.Arg13Leu Single submitter ⚠
- p.Arg31Gly Single submitter ⚠
- p.Arg343His Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg590Trp Single submitter ⚠
- p.Arg606His Single submitter ⚠
- p.Arg727Cys Single submitter ⚠
- p.Arg824Ser Single submitter ⚠
- p.Arg841Gln Single submitter ⚠
- p.Arg912Gln Single submitter ⚠
- p.Asn297Ser Single submitter ⚠
- p.Asn472Ser Single submitter ⚠
- p.Asn62Ser Single submitter ⚠
- p.Asn658Lys Single submitter ⚠
- p.Asp702Asn Single submitter ⚠
- p.Asp790His Single submitter ⚠
- p.Gln737His Single submitter ⚠
- p.Gln85Arg Single submitter ⚠
- p.Glu514Lys Single submitter ⚠
- p.Glu724Ala Single submitter
- p.Glu873Gln Single submitter ⚠
- p.Glu881Lys Single submitter
- p.Glu889Asp Single submitter ⚠
- p.Gly814Ser Single submitter
- p.His668Asp Single submitter ⚠
- p.Ile419Val Single submitter ⚠
- p.Ile452Phe Single submitter ⚠
- p.Ile452Thr Single submitter
- p.Ile61Asn Single submitter ⚠
- p.Ile762Thr Single submitter ⚠
- p.Ile762Val Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu37Phe Single submitter ⚠
- p.Leu752Met Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Lys208Glu Single submitter ⚠
- p.Lys458Arg Single submitter ⚠
- p.Lys556Asn Single submitter ⚠
- p.Lys715Arg Single submitter ⚠
- p.Lys768Gln Single submitter ⚠
- p.Phe16fs Single submitter
- p.Phe255Ser Single submitter ⚠
- p.Phe457Leu Single submitter ⚠
- p.Pro225Ser Single submitter ⚠
- p.Pro552Ser Single submitter ⚠
- p.Ser594Cys Single submitter
- p.Ser64Ile Single submitter ⚠
- p.Thr405Pro Single submitter ⚠
- p.Thr669Ala Single submitter ⚠
- p.Tyr244Asn Single submitter ⚠
- p.Tyr404Ser Single submitter ⚠
- p.Tyr507Cys Single submitter ⚠
- p.Tyr748Phe Single submitter ⚠
- p.Val272Ala Single submitter ⚠
- p.Val346Ile Single submitter
- p.Val493Met Single submitter ⚠
- p.Val569Ile Single submitter ⚠
- p.Val651Ile Single submitter
- p.Val782Ile Single submitter ⚠