NOS1AP — 136 ClinVar variants
All ClinVar germline NOS1AP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
2 Pathogenic · 2 Conflicting · 31 Benign · 8 Benign/Likely benign · 31 Likely benign · 62 Uncertain significance
Full NOS1AP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NOS1AP p.Lys427Arg Uncertain significance Multiple submitters
- NOS1AP p.Pro402Leu Uncertain significance Multiple submitters
- NOS1AP p.Ala213Gly Uncertain significance Single submitter
- NOS1AP p.Ala406Thr Uncertain significance Single submitter
- NOS1AP p.Arg134Gln Uncertain significance Single submitter
- NOS1AP p.Arg134Gly Uncertain significance Single submitter
- NOS1AP p.Arg207Lys Uncertain significance Single submitter
- NOS1AP p.Arg334His Uncertain significance Single submitter
- NOS1AP p.Asn179Asp Uncertain significance Single submitter
- NOS1AP p.Asp197Glu Uncertain significance Single submitter
- NOS1AP p.Asp229Asn Uncertain significance Single submitter
- NOS1AP p.Asp498Asn Uncertain significance Single submitter
- NOS1AP p.Asp501Gly Uncertain significance Single submitter
- NOS1AP p.Cys31Tyr Uncertain significance Single submitter
- NOS1AP p.Glu206Gly Uncertain significance Single submitter
- NOS1AP p.Glu206Lys Uncertain significance Single submitter
- NOS1AP p.Glu232Asp Uncertain significance Single submitter
- NOS1AP p.Glu429Gln Uncertain significance Single submitter
- NOS1AP p.Glu472Gly Uncertain significance Single submitter
- NOS1AP p.Glu483Lys Uncertain significance Single submitter
- NOS1AP p.Glu483Val Uncertain significance Single submitter
- NOS1AP p.Gly196Val Uncertain significance Single submitter
- NOS1AP p.Gly407Ser Uncertain significance Single submitter
-
NOS1AP p.Gly450Ala
Uncertain significance
Single submitter
NOS1AP-related disorder
- NOS1AP p.Gly497Cys Uncertain significance Single submitter
- NOS1AP p.His14Asn Uncertain significance Single submitter
- NOS1AP p.His257Gln Uncertain significance Single submitter
- NOS1AP p.Ile504Met Uncertain significance Single submitter
- NOS1AP p.Leu16Val Uncertain significance Single submitter
- NOS1AP p.Leu92His Uncertain significance Single submitter
- NOS1AP p.Lys395Arg Uncertain significance Single submitter
- NOS1AP p.Met262Ile Uncertain significance Single submitter
- NOS1AP p.Met345Arg Uncertain significance Single submitter
- NOS1AP p.Pro278Leu Uncertain significance Single submitter
- NOS1AP p.Pro286Arg Uncertain significance Single submitter
- NOS1AP p.Pro286Leu Uncertain significance Single submitter
- NOS1AP p.Ser138Arg Uncertain significance Single submitter
- NOS1AP p.Ser256Leu Uncertain significance Single submitter
- NOS1AP p.Ser478Pro Uncertain significance Single submitter
- NOS1AP p.Thr160Met Uncertain significance Single submitter
- NOS1AP p.Thr176Met Uncertain significance Single submitter
- NOS1AP p.Thr203Pro Uncertain significance Single submitter
- NOS1AP p.Thr210Met Uncertain significance Single submitter
- NOS1AP p.Thr289Ile Uncertain significance Single submitter
- NOS1AP p.Thr392Met Uncertain significance Single submitter
- NOS1AP p.Thr439Ile Uncertain significance Single submitter
- NOS1AP p.Thr470Ala Uncertain significance Single submitter
-
NOS1AP p.Ser275Phe
Uncertain significance
No assertion criteria
long QT syndrome
-
NOS1AP p.Val426Met
Uncertain significance
No assertion criteria
long QT syndrome
Predictors split 10
The independent predictors disagree with each other — read with care.
- NOS1AP p.Asp219Ala Uncertain significance Single submitter
- NOS1AP p.Ile116Val Uncertain significance Single submitter
- NOS1AP p.Ile51Val Uncertain significance Single submitter
- NOS1AP p.Ile74Phe Uncertain significance Single submitter
- NOS1AP p.Lys105Glu Uncertain significance Single submitter
- NOS1AP p.Lys65Asn Uncertain significance Single submitter
- NOS1AP p.Lys90Glu Uncertain significance Single submitter
- NOS1AP p.Lys96Thr Uncertain significance Single submitter
- NOS1AP p.Phe380Leu Uncertain significance Single submitter
- NOS1AP p.Val335Met Likely benign Single submitter
All NOS1AP variants
Pathogenic 2
- c.345-3T>G No assertion criteria nephrotic syndrome, type 22
- p.Cys143Tyr No assertion criteria nephrotic syndrome, type 22
Conflicting classifications of pathogenicity 2
- c.453+18G>A Single submitter
- p.Glu437Lys Single submitter ⚠
Benign 31
- c.1105+65T>C Multiple submitters
- c.178-101C>G Multiple submitters
- c.270+55A>G Multiple submitters
- c.345-118C>T Multiple submitters
- c.345-172T>C Multiple submitters
- c.454-107A>G Multiple submitters
- c.454-28T>C Multiple submitters
- c.762+127G>A Multiple submitters
- c.940-142C>T Multiple submitters
- c.940-313_940-312insGTGC Multiple submitters
- c.940-318_940-317insCACG Multiple submitters
- p.Ala205= Multiple submitters
- p.Ser188= Multiple submitters
- c.105+233C>A Single submitter
- c.106-250G>C Single submitter
- c.1105+141T>C Single submitter
- c.1106-303A>G Single submitter
- c.178-259A>G Single submitter
- c.270+264dup Single submitter
- c.270+265T>C Single submitter
- c.345-242G>A Single submitter
- c.454-240T>A Single submitter
- c.596-5T>G Single submitter
- c.762+226G>A Single submitter
- c.940-1094T>C Single submitter
- c.940-1204A>G Single submitter
- c.940-125G>C Single submitter
- c.940-2673T>A Single submitter
- p.Gly450= Single submitter
- p.Ser192= Single submitter
- p.Thr439= Single submitter
Benign/Likely benign 8
- p.Ala406Val Multiple submitters
- p.Arg134= Multiple submitters
- p.Arg334= Multiple submitters nephrotic syndrome, type 22
- p.Ile128= Multiple submitters
- p.Ser104Asn Multiple submitters
- p.Ser288= Multiple submitters nephrotic syndrome, type 22
- p.Ser478= Multiple submitters
- p.Thr100= Multiple submitters
Likely benign 31
- c.940-313T>C Multiple submitters
- c.105+13C>T Single submitter
- c.270+20A>G Single submitter
- c.345-228C>T Single submitter
- c.453+17C>T Single submitter
- c.940-229A>G Single submitter
- c.940-59C>T Single submitter
- c.940-777T>G Single submitter
- c.940-992T>A Single submitter
- p.Ala220= Single submitter
- p.Arg235= Single submitter
- p.Asn193Ile Single submitter
- p.Gln124= Single submitter
- p.Gln306del Single submitter
- p.His257= Single submitter
- p.Ile132= Single submitter
- p.Ile218= Single submitter
- p.Leu317= Single submitter
- p.Leu425= Single submitter
- p.Leu428= Single submitter
- p.Pro286= Single submitter
- p.Ser256= Single submitter
- p.Ser273Ala Single submitter
- p.Ser276del Single submitter
- p.Thr176= Single submitter
- p.Thr470= Single submitter
- p.Tyr118= Single submitter
- p.Val10= Single submitter
- p.Val237= Single submitter
- p.Val243= Single submitter
- p.Val335Met Single submitter ⚠
Uncertain significance 62
- p.Lys427Arg Multiple submitters ⚠
- p.Pro402Leu Multiple submitters ⚠
- c.454-6T>A Single submitter
- c.762+8A>G Single submitter
- p.Ala213Gly Single submitter ⚠
- p.Ala220Val Single submitter
- p.Ala406Thr Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg134Gly Single submitter ⚠
- p.Arg207Lys Single submitter ⚠
- p.Arg334His Single submitter ⚠
- p.Asn179Asp Single submitter ⚠
- p.Asp197Glu Single submitter ⚠
- p.Asp219Ala Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Asp498Asn Single submitter ⚠
- p.Asp501Gly Single submitter ⚠
- p.Cys31Tyr Single submitter ⚠
- p.Glu206Gly Single submitter ⚠
- p.Glu206Lys Single submitter ⚠
- p.Glu232Asp Single submitter ⚠
- p.Glu429Gln Single submitter ⚠
- p.Glu472Gly Single submitter ⚠
- p.Glu483Lys Single submitter ⚠
- p.Glu483Val Single submitter ⚠
- p.Gly196Val Single submitter ⚠
- p.Gly407Ser Single submitter ⚠
- p.Gly420Ala Single submitter nephrotic syndrome, type 22
- p.Gly450Ala Single submitter NOS1AP-related disorder ⚠
- p.Gly497Cys Single submitter ⚠
- p.His14Asn Single submitter ⚠
- p.His257Gln Single submitter ⚠
- p.Ile116Val Single submitter ⚠
- p.Ile504Met Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Ile74Phe Single submitter ⚠
- p.Leu16Val Single submitter ⚠
- p.Leu92His Single submitter ⚠
- p.Lys105Glu Single submitter ⚠
- p.Lys395Arg Single submitter ⚠
- p.Lys65Asn Single submitter ⚠
- p.Lys90Glu Single submitter ⚠
- p.Lys96Thr Single submitter ⚠
- p.Met262Ile Single submitter ⚠
- p.Met345Arg Single submitter ⚠
- p.Phe380Leu Single submitter ⚠
- p.Pro278Leu Single submitter ⚠
- p.Pro286Arg Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Ser138Arg Single submitter ⚠
- p.Ser256Leu Single submitter ⚠
- p.Ser478Pro Single submitter ⚠
- p.Thr160Met Single submitter ⚠
- p.Thr176Met Single submitter ⚠
- p.Thr203Pro Single submitter ⚠
- p.Thr210Met Single submitter ⚠
- p.Thr289Ile Single submitter ⚠
- p.Thr392Met Single submitter ⚠
- p.Thr439Ile Single submitter ⚠
- p.Thr470Ala Single submitter ⚠
- p.Ser275Phe No assertion criteria long QT syndrome ⚠
- p.Val426Met No assertion criteria long QT syndrome ⚠