ZC3HAV1 — 129 ClinVar variants

All ClinVar germline ZC3HAV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

3 Benign · 20 Likely benign · 106 Uncertain significance

Full ZC3HAV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 104

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 88

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

Predictors split 16

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

All ZC3HAV1 variants

Benign 3

p.Ser706= Multiple submitters
p.Thr547= Multiple submitters
c.1698-6del Single submitter

Likely benign 20

p.Ala306Thr Single submitter
p.Ala479Thr Single submitter
p.Arg295His Single submitter
p.Arg305Cys Single submitter
p.Arg305His Single submitter
p.Arg385Leu Single submitter
p.Arg657Gln Single submitter
p.Asp508Gly Single submitter
p.Asp865Asn Single submitter
p.Cys518Tyr Single submitter
p.Gly558Ala Single submitter
p.Gly563Arg Single submitter
p.Leu391Pro Single submitter
p.Lys544Glu Single submitter
p.Pro4= Single submitter
p.Ser312= Single submitter
p.Ser583Phe Single submitter
p.Thr547Met Single submitter
p.Thr554Met Single submitter
p.Val838Ile Single submitter

Uncertain significance 106

p.Ala135Thr Single submitter ⚠
p.Ala262Val Single submitter ⚠
p.Ala266Val Single submitter ⚠
p.Ala268Pro Single submitter ⚠
p.Ala31Gly Single submitter ⚠
p.Ala384Thr Single submitter ⚠
p.Ala824Pro Single submitter ⚠
p.Arg158Trp Single submitter ⚠
p.Arg183Cys Single submitter ⚠
p.Arg238His Single submitter ⚠
p.Arg250Gly Single submitter ⚠
p.Arg270Thr Single submitter ⚠
p.Arg282Gly Single submitter ⚠
p.Arg295Cys Single submitter ⚠
p.Arg295Leu Single submitter ⚠
p.Arg385His Single submitter ⚠
p.Arg385Ser Single submitter ⚠
p.Arg411Ser Single submitter ⚠
p.Arg470Gln Single submitter ⚠
p.Arg48His Single submitter
p.Arg577Trp Single submitter ⚠
p.Arg587Gln Single submitter ⚠
p.Arg588Cys Single submitter ⚠
p.Arg647Lys Single submitter ⚠
p.Arg657Trp Single submitter ⚠
p.Arg69Gln Single submitter ⚠
p.Arg715Cys Single submitter ⚠
p.Arg715His Single submitter ⚠
p.Arg791His Single submitter ⚠
p.Asn186Lys Single submitter ⚠
p.Asn186Ser Single submitter ⚠
p.Asn220Asp Single submitter ⚠
p.Asn343Ile Single submitter ⚠
p.Asn358Ser Single submitter ⚠
p.Asn414Ser Single submitter ⚠
p.Asn600Ile Single submitter ⚠
p.Asn658Asp Single submitter ⚠
p.Asn84Tyr Single submitter ⚠
p.Asn97Ser Single submitter ⚠
p.Asp317Ala Single submitter ⚠
p.Asp505Asn Single submitter ⚠
p.Asp634Asn Single submitter ⚠
p.Asp83Gly Single submitter ⚠
p.Cys518Arg Single submitter ⚠
p.Cys867Phe Single submitter ⚠
p.Cys8Gly Single submitter ⚠
p.Gln160Pro Single submitter ⚠
p.Gln423His Single submitter ⚠
p.Gln717His Single submitter ⚠
p.Gln844His Single submitter ⚠
p.Glu204Lys Single submitter ⚠
p.Glu286Gly Single submitter ⚠
p.Gly334Asp Single submitter ⚠
p.Gly334Ser Single submitter ⚠
p.Gly466Arg Single submitter ⚠
p.Gly56Ser Single submitter ⚠
p.Gly817Ala Single submitter ⚠
p.His737Arg Single submitter ⚠
p.Ile542Thr Single submitter ⚠
p.Ile555Met Single submitter ⚠
p.Leu126Val Single submitter ⚠
p.Leu261Ile Single submitter ⚠
p.Leu362Phe Single submitter ⚠
p.Leu52Val Single submitter ⚠
p.Leu641Val Single submitter ⚠
p.Leu730Trp Single submitter ⚠
p.Leu806Arg Single submitter ⚠
p.Lys197Arg Single submitter ⚠
p.Lys374Asn Single submitter ⚠
p.Lys627Arg Single submitter ⚠
p.Lys674Glu Single submitter ⚠
p.Lys770Glu Single submitter ⚠
p.Met540Ile Single submitter ⚠
p.Met540Thr Single submitter ⚠
p.Phe377Tyr Single submitter ⚠
p.Phe685Leu Single submitter ⚠
p.Phe720Val Single submitter ⚠
p.Phe841Ile Single submitter ⚠
p.Phe877Leu Single submitter ⚠
p.Pro46Ser Single submitter ⚠
p.Pro646Leu Single submitter ⚠
p.Ser127Phe Single submitter ⚠
p.Ser249Arg Single submitter ⚠
p.Ser249Gly Single submitter ⚠
p.Ser312Leu Single submitter ⚠
p.Ser580Arg Single submitter ⚠
p.Ser580Gly Single submitter ⚠
p.Ser590Cys Single submitter ⚠
p.Ser706Leu Single submitter ⚠
p.Ser744Asn Single submitter ⚠
p.Ser799Leu Single submitter ⚠
p.Ser866Gly Single submitter
p.Thr298Arg Single submitter ⚠
p.Thr366Met Single submitter ⚠
p.Thr380Lys Single submitter ⚠
p.Thr399Ile Single submitter ⚠
p.Thr500Ala Single submitter ⚠
p.Thr604Ile Single submitter ⚠
p.Thr870Ile Single submitter ⚠
p.Tyr637His Single submitter ⚠
p.Tyr793Asp Single submitter ⚠
p.Tyr793Phe Single submitter ⚠
p.Val112Phe Single submitter ⚠
p.Val489Gly Single submitter ⚠
p.Val504Gly Single submitter ⚠
p.Val876Ile Single submitter ⚠