ANKS1A — 171 ClinVar variants

All ClinVar germline ANKS1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

6 Benign · 15 Likely benign · 150 Uncertain significance

Full ANKS1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 102

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

Predictors split 48

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

All ANKS1A variants

Benign 6

c.2437-10C>T Single submitter
p.Arg578Gly Single submitter
p.Asn945= Single submitter
p.Leu630= Single submitter
p.Thr473Ala Single submitter
p.Val1095= Single submitter

Likely benign 15

p.Pro1089= Multiple submitters
c.1424-8A>G Single submitter
p.Ala523Pro Single submitter
p.Ala523Thr Single submitter
p.Ala639Thr Single submitter
p.Arg448Gln Single submitter
p.Arg688Gln Single submitter
p.Asn107= Single submitter
p.Gly1075= Single submitter
p.His279Arg Single submitter
p.Met1107Thr Single submitter
p.Pro83= Single submitter
p.Ser66= Single submitter
p.Thr173= Single submitter
p.Val1097Met Single submitter

Uncertain significance 150

p.Ala1061Val Single submitter ⚠
p.Ala1076Thr Single submitter ⚠
p.Ala1101Thr Single submitter ⚠
p.Ala268Thr Single submitter ⚠
p.Ala488Val Single submitter ⚠
p.Ala554Asp Single submitter ⚠
p.Ala603Val Single submitter ⚠
p.Ala665Thr Single submitter ⚠
p.Ala756Ser Single submitter ⚠
p.Ala892Val Single submitter ⚠
p.Ala897Gly Single submitter ⚠
p.Ala920Thr Single submitter ⚠
p.Ala964Thr Single submitter ⚠
p.Arg1007Gln Single submitter ⚠
p.Arg101Lys Single submitter ⚠
p.Arg130Gln Single submitter ⚠
p.Arg130Trp Single submitter ⚠
p.Arg380Gln Single submitter ⚠
p.Arg406His Single submitter ⚠
p.Arg478Gln Single submitter ⚠
p.Arg478Trp Single submitter ⚠
p.Arg565Ser Single submitter ⚠
p.Arg600Gly Single submitter ⚠
p.Arg600Leu Single submitter ⚠
p.Arg600Trp Single submitter ⚠
p.Arg606Gln Single submitter ⚠
p.Arg688Trp Single submitter ⚠
p.Arg695Trp Single submitter ⚠
p.Arg739Gln Single submitter ⚠
p.Arg739Trp Single submitter ⚠
p.Arg749Trp Single submitter ⚠
p.Arg757His Single submitter ⚠
p.Arg832Lys Single submitter ⚠
p.Arg869Gln Single submitter ⚠
p.Arg899His Single submitter ⚠
p.Arg914Gln Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Asn146Ser Single submitter ⚠
p.Asn179Ser Single submitter ⚠
p.Asn650Tyr Single submitter ⚠
p.Asp272His Single submitter ⚠
p.Asp339Glu Single submitter ⚠
p.Asp385Glu Single submitter ⚠
p.Asp416Ala Single submitter ⚠
p.Asp599Asn Single submitter ⚠
p.Asp638Tyr Single submitter ⚠
p.Asp669Asn Single submitter ⚠
p.Asp724Asn Single submitter ⚠
p.Asp786Glu Single submitter ⚠
p.Asp994Asn Single submitter ⚠
p.Cys633Tyr Single submitter ⚠
p.Cys75Gly Single submitter ⚠
p.Cys866Tyr Single submitter ⚠
p.Gln1030His Single submitter ⚠
p.Gln1067Arg Single submitter ⚠
p.Gln1067His Single submitter ⚠
p.Gln1109Lys Single submitter ⚠
p.Gln297His Single submitter ⚠
p.Gln334Arg Single submitter ⚠
p.Gln699His Single submitter ⚠
p.Gln736His Single submitter ⚠
p.Gln747Glu Single submitter ⚠
p.Glu289Lys Single submitter ⚠
p.Glu358Ala Single submitter ⚠
p.Glu511Lys Single submitter ⚠
p.Glu545Gln Single submitter ⚠
p.Glu706Lys Single submitter ⚠
p.Glu836Gly Single submitter ⚠
p.Glu938Lys Single submitter ⚠
p.Glu97Gln Single submitter ⚠
p.Glu97Lys Single submitter ⚠
p.Gly2Arg Single submitter ⚠
p.Gly379Arg Single submitter ⚠
p.Gly493Arg Single submitter ⚠
p.Gly505Asp Single submitter ⚠
p.Gly530Arg Single submitter ⚠
p.Gly642Arg Single submitter ⚠
p.Gly702Arg Single submitter ⚠
p.Gly868Arg Single submitter ⚠
p.His305Tyr Single submitter ⚠
p.His443Arg Single submitter ⚠
p.His527Tyr Single submitter ⚠
p.His538Asn Single submitter ⚠
p.His538Pro Single submitter ⚠
p.His550Arg Single submitter ⚠
p.Ile653Thr Single submitter ⚠
p.Ile708Thr Single submitter ⚠
p.Ile799Thr Single submitter ⚠
p.Ile902Val Single submitter ⚠
p.Ile982Met Single submitter ⚠
p.Leu234Ile Single submitter ⚠
p.Leu65Pro Single submitter ⚠
p.Lys1085Thr Single submitter ⚠
p.Met200Ile Single submitter ⚠
p.Met200Val Single submitter ⚠
p.Met247Val Single submitter ⚠
p.Met438Thr Single submitter ⚠
p.Phe182Cys Single submitter ⚠
p.Pro1016Leu Single submitter ⚠
p.Pro1089Arg Single submitter ⚠
p.Pro1105Thr Single submitter ⚠
p.Pro116Arg Single submitter ⚠
p.Pro320Gln Single submitter ⚠
p.Pro321Thr Single submitter ⚠
p.Pro324His Single submitter ⚠
p.Pro398Ser Single submitter ⚠
p.Pro403Leu Single submitter ⚠
p.Pro407Ser Single submitter ⚠
p.Pro590Leu Single submitter ⚠
p.Pro590Ser Single submitter ⚠
p.Pro609Ala Single submitter ⚠
p.Pro60Leu Single submitter ⚠
p.Pro760His Single submitter ⚠
p.Pro773Thr Single submitter ⚠
p.Pro837Ala Single submitter ⚠
p.Ser378Arg Single submitter ⚠
p.Ser40Cys Single submitter ⚠
p.Ser555Phe Single submitter ⚠
p.Ser56Phe Single submitter ⚠
p.Ser605Asn Single submitter ⚠
p.Ser661Leu Single submitter ⚠
p.Ser666Leu Single submitter ⚠
p.Ser707Leu Single submitter ⚠
p.Ser730Cys Single submitter ⚠
p.Ser758Phe Single submitter ⚠
p.Ser870Leu Single submitter ⚠
p.Thr1031Ser Single submitter ⚠
p.Thr162Arg Single submitter ⚠
p.Thr286Ile Single submitter ⚠
p.Thr318Pro Single submitter ⚠
p.Thr431Pro Single submitter ⚠
p.Thr460Arg Single submitter ⚠
p.Thr463Ala Single submitter ⚠
p.Thr610Ala Single submitter ⚠
p.Thr856Met Single submitter ⚠
p.Thr867Ile Single submitter ⚠
p.Tyr115His Single submitter ⚠
p.Tyr455Phe Single submitter ⚠
p.Val1000Ile Single submitter ⚠
p.Val1038Met Single submitter ⚠
p.Val1042Met Single submitter ⚠
p.Val1090Leu Single submitter ⚠
p.Val231Ile Single submitter ⚠
p.Val469Met Single submitter ⚠
p.Val509Ala Single submitter ⚠
p.Val788Asp Single submitter ⚠
p.Val788Ile Single submitter ⚠
p.Val813Gly Single submitter ⚠
p.Val925Leu Single submitter ⚠
p.Val98Ile Single submitter ⚠