ADD2 — 90 ClinVar variants

All ClinVar germline ADD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

3 Benign · 7 Likely benign · 80 Uncertain significance

Full ADD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 51

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

Predictors split 30

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

All ADD2 variants

Benign 3

p.Asp28Asn Multiple submitters ⚠
p.Glu335Asp Multiple submitters
p.Gly17Glu Multiple submitters

Likely benign 7

p.Ala635Thr Single submitter
p.Glu543Lys Single submitter
p.Pro231= Single submitter
p.Pro587Ala Single submitter
p.Pro587Thr Single submitter
p.Ser632= Single submitter
p.Val602= Single submitter

Uncertain significance 80

p.Ala150Val Single submitter ⚠
p.Ala232Gly Single submitter ⚠
p.Ala312Thr Single submitter ⚠
p.Ala418Pro Single submitter ⚠
p.Ala606Val Single submitter ⚠
p.Ala609Thr Single submitter ⚠
p.Arg131Trp Single submitter ⚠
p.Arg142Gln Single submitter ⚠
p.Arg160Lys Single submitter ⚠
p.Arg271Gln Single submitter ⚠
p.Arg271Trp Single submitter ⚠
p.Arg338Gln Single submitter ⚠
p.Arg37Gly Single submitter ⚠
p.Arg384Cys Single submitter ⚠
p.Arg42Gln Single submitter ⚠
p.Arg451Lys Single submitter ⚠
p.Arg574Lys Single submitter ⚠
p.Asp221Asn Single submitter ⚠
p.Asp548Asn Single submitter ⚠
p.Asp562Glu Single submitter ⚠
p.Asp92Asn Single submitter ⚠
p.Cys177Phe Single submitter ⚠
p.Cys224Ser Single submitter ⚠
p.Cys282Phe Single submitter ⚠
p.Gln151His Single submitter ⚠
p.Gln389Glu Single submitter ⚠
p.Glu26Asp Single submitter ⚠
p.Glu335Val Single submitter ⚠
p.Glu390Lys Single submitter ⚠
p.Glu467Lys Single submitter ⚠
p.Glu640Lys Single submitter ⚠
p.Glu65Gln Single submitter ⚠
p.Gly296Ser Single submitter ⚠
p.Gly325Ala Single submitter ⚠
p.Gly349Arg Single submitter ⚠
p.Gly454Asp Single submitter ⚠
p.Gly665Arg Single submitter ⚠
p.His308Pro Single submitter ⚠
p.Ile215Val Single submitter ⚠
p.Ile225Val Single submitter ⚠
p.Leu34His Single submitter ⚠
p.Leu419Arg Single submitter ⚠
p.Leu67Val Single submitter ⚠
p.Lys51Arg Single submitter ⚠
p.Lys706Arg Single submitter ⚠
p.Met133Leu Single submitter ⚠
p.Met256Val Single submitter ⚠
p.Met355Leu Single submitter ⚠
p.Met453Ile Single submitter ⚠
p.Met692Ile Single submitter ⚠
p.Met692Val Single submitter ⚠
p.Met94Val Single submitter ⚠
p.Phe21Leu Single submitter ⚠
p.Pro19Ser Single submitter ⚠
p.Pro415Leu Single submitter ⚠
p.Pro598Ser Single submitter ⚠
p.Pro644Leu Single submitter ⚠
p.Pro694Ala Single submitter ⚠
p.Ser11Leu Single submitter ⚠
p.Ser318Leu Single submitter ⚠
p.Ser512Thr Single submitter ⚠
p.Ser530Arg Single submitter ⚠
p.Ser604Ile Single submitter ⚠
p.Ser619Cys Single submitter ⚠
p.Ser667Asn Single submitter ⚠
p.Thr113Met Single submitter ⚠
p.Thr392Ser Single submitter ⚠
p.Thr533Ala Single submitter ⚠
p.Thr611Ala Single submitter ⚠
p.Thr636Ala Single submitter ⚠
p.Thr711Ser Single submitter ⚠
p.Tyr31Asp Single submitter ⚠
p.Tyr377His Single submitter ⚠
p.Val109Ile Single submitter ⚠
p.Val246Ile Single submitter ⚠
p.Val292Leu Single submitter ⚠
p.Val345Leu Single submitter ⚠
p.Val388Leu Single submitter ⚠
p.Val408Met Single submitter ⚠
p.Val648Leu Single submitter ⚠