PDF — 65 ClinVar variants

All ClinVar germline PDF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →

2 Benign · 3 Likely benign · 60 Uncertain significance

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

⚑ Evidence disagreements 61

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 28

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

Predictors split 33

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

All PDF variants

Benign 2

p.Arg164= Single submitter
p.Pro90Thr Single submitter ⚠

Likely benign 3

p.Ala7= Single submitter
p.Pro18Leu Single submitter
p.Pro63= Single submitter

Uncertain significance 60

p.Ala124Val Single submitter ⚠
p.Ala130Glu Single submitter ⚠
p.Ala180Gly Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala208Val Single submitter ⚠
p.Ala7Pro Single submitter ⚠
p.Ala7Ser Single submitter ⚠
p.Arg159Gln Single submitter ⚠
p.Arg76His Single submitter ⚠
p.Arg94Trp Single submitter ⚠
p.Asn196Ile Single submitter ⚠
p.Asn196Ser Single submitter ⚠
p.Asp72Asn Single submitter ⚠
p.Gln115Arg Single submitter ⚠
p.Glu129Gly Single submitter ⚠
p.Gly206Arg Single submitter ⚠
p.Gly41Asp Single submitter ⚠
p.Gly6Ser Single submitter ⚠
p.Gly71Arg Single submitter ⚠
p.Gly89Arg Single submitter ⚠
p.Leu10Val Single submitter ⚠
p.Leu116Val Single submitter ⚠
p.Leu142Pro Single submitter ⚠
p.Leu158Val Single submitter ⚠
p.Leu161Phe Single submitter ⚠
p.Leu52Pro Single submitter ⚠
p.Leu57Val Single submitter ⚠
p.Leu8Val Single submitter ⚠
p.Met103Ile Single submitter ⚠
p.Met145Ile Single submitter ⚠
p.Met228Ile Single submitter ⚠
p.Phe148Cys Single submitter ⚠
p.Pro128Ala Single submitter ⚠
p.Pro128Ser Single submitter ⚠
p.Pro12Arg Single submitter ⚠
p.Pro136Leu Single submitter ⚠
p.Pro136Ser Single submitter ⚠
p.Pro137Leu Single submitter ⚠
p.Pro147Leu Single submitter ⚠
p.Pro149Leu Single submitter ⚠
p.Pro18Arg Single submitter ⚠
p.Pro195Ser Single submitter ⚠
p.Pro62Ala Single submitter ⚠
p.Pro73Ala Single submitter ⚠
p.Pro73Leu Single submitter ⚠
p.Pro73Ser Single submitter ⚠
p.Pro90Arg Single submitter ⚠
p.Ser230Arg Single submitter ⚠
p.Thr167Ile Single submitter ⚠
p.Thr234Ile Single submitter ⚠
p.Thr96Met Single submitter ⚠
p.Trp11Ser Single submitter ⚠
p.Tyr48Cys Single submitter ⚠
p.Val102Met Single submitter ⚠
p.Val152Met Single submitter ⚠
p.Val166Leu Single submitter ⚠
p.Val175Ile Single submitter ⚠
p.Val17Met Single submitter ⚠
p.Val182Met Single submitter ⚠
p.Val188Met Single submitter ⚠