NASP — 100 ClinVar variants

All ClinVar germline NASP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

1 Benign · 12 Likely benign · 87 Uncertain significance

Full NASP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 78

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All NASP variants

Benign 1

p.Pro195= Multiple submitters

Likely benign 12

p.Ala328Val Single submitter
p.Arg400Gly Single submitter
p.Arg661His Single submitter
p.Cys254Tyr Single submitter
p.Gly216Ala Single submitter
p.Ile392Val Single submitter
p.Ile611Val Single submitter
p.Leu286Val Single submitter
p.Pro222Leu Single submitter
p.Pro383Leu Single submitter
p.Pro750Ser Single submitter
p.Val741= Single submitter

Uncertain significance 87

p.Ala18Asp Single submitter ⚠
p.Ala18Pro Single submitter ⚠
p.Ala217Val Single submitter ⚠
p.Ala328Gly Single submitter ⚠
p.Ala354Gly Single submitter ⚠
p.Ala356Gly Single submitter ⚠
p.Ala542Thr Single submitter ⚠
p.Ala779Pro Single submitter ⚠
p.Ala7Thr Single submitter ⚠
p.Arg661Cys Single submitter ⚠
p.Arg770Gln Single submitter ⚠
p.Arg770Trp Single submitter ⚠
p.Asn381Ser Single submitter ⚠
p.Asn495Asp Single submitter ⚠
p.Asn64Ser Single submitter ⚠
p.Asn82Asp Single submitter ⚠
p.Asp149Glu Single submitter
p.Asp238His Single submitter ⚠
p.Asp301Tyr Single submitter ⚠
p.Asp730Gly Single submitter ⚠
p.Gln389Glu Single submitter ⚠
p.Gln543His Single submitter ⚠
p.Gln543Leu Single submitter ⚠
p.Gln624Pro Single submitter ⚠
p.Glu156Ala Single submitter ⚠
p.Glu169Lys Single submitter ⚠
p.Glu253Ala Single submitter ⚠
p.Glu253Lys Single submitter ⚠
p.Glu261Asp Single submitter ⚠
p.Glu287Gln Single submitter ⚠
p.Glu316Gly Single submitter ⚠
p.Glu324Lys Single submitter ⚠
p.Glu350Asp Single submitter ⚠
p.Glu365Gly Single submitter ⚠
p.Glu412Gly Single submitter ⚠
p.Glu424fs Single submitter
p.Glu463Asp Single submitter ⚠
p.Glu612Asp Single submitter ⚠
p.Glu623Asp Single submitter ⚠
p.Glu641Lys Single submitter ⚠
p.Glu648Lys Single submitter ⚠
p.Glu740Gly Single submitter ⚠
p.Gly182Ala Single submitter ⚠
p.Gly264Arg Single submitter ⚠
p.Gly360Arg Single submitter ⚠
p.Gly378Asp Single submitter ⚠
p.Gly48Cys Single submitter ⚠
p.Gly746Arg Single submitter ⚠
p.Gly780Ala Single submitter ⚠
p.His53Tyr Single submitter ⚠
p.Ile135Val Single submitter ⚠
p.Ile188Met Single submitter ⚠
p.Ile649Val Single submitter
p.Leu110Trp Single submitter ⚠
p.Leu110Val Single submitter ⚠
p.Leu203Val Single submitter ⚠
p.Leu286Pro Single submitter ⚠
p.Leu46Arg Single submitter ⚠
p.Lys214Arg Single submitter ⚠
p.Lys273Glu Single submitter ⚠
p.Lys442Arg Single submitter ⚠
p.Lys455Glu Single submitter ⚠
p.Lys609Arg Single submitter ⚠
p.Lys698Asn Single submitter ⚠
p.Met186Thr Single submitter ⚠
p.Pro237Leu Single submitter ⚠
p.Pro302Arg Single submitter ⚠
p.Pro314Ser Single submitter ⚠
p.Pro722Thr Single submitter ⚠
p.Pro739Leu Single submitter ⚠
p.Ser176Asn Single submitter ⚠
p.Ser176Gly Single submitter ⚠
p.Ser176Ile Single submitter ⚠
p.Ser189Asn Single submitter ⚠
p.Ser269Arg Single submitter ⚠
p.Ser28Cys Single submitter ⚠
p.Ser408Pro Single submitter ⚠
p.Ser451Leu Single submitter ⚠
p.Ser662Cys Single submitter ⚠
p.Ser689Cys Single submitter ⚠
p.Ser756Leu Single submitter ⚠
p.Thr349Ala Single submitter ⚠
p.Thr396Ala Single submitter ⚠
p.Tyr540Cys Single submitter ⚠
p.Tyr575Cys Single submitter
p.Val24Ile Single submitter ⚠
p.Val277Gly Single submitter ⚠