ANKRD18A — 143 ClinVar variants

All ClinVar germline ANKRD18A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

11 Benign · 25 Likely benign · 107 Uncertain significance

Full ANKRD18A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 94

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

Predictors split 11

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

All ANKRD18A variants

Benign 11

c.206+8G>C Multiple submitters
p.Gln851Arg Multiple submitters
p.Ile969Val Multiple submitters
p.Leu35= Multiple submitters
p.Lys407Thr Multiple submitters
p.Thr217= Multiple submitters
p.Thr942= Multiple submitters
p.Thr942Ile Multiple submitters
p.Tyr355= Multiple submitters
p.Val419= Multiple submitters
p.Val81Met Multiple submitters

Likely benign 25

p.Ala385Ser Single submitter
p.Ala514Thr Single submitter
p.Ala720Val Single submitter
p.Arg249Gln Single submitter
p.Arg386Gln Single submitter
p.Arg439Lys Single submitter
p.Arg558Gln Single submitter
p.Arg564His Single submitter
p.Arg592Lys Single submitter
p.Arg66Lys Single submitter
p.Arg698His Single submitter
p.Arg932Gln Single submitter
p.Asn176Ser Single submitter
p.Glu756Lys Single submitter
p.Glu886Asp Single submitter
p.His525Tyr Single submitter
p.His78Tyr Single submitter
p.Ile175Val Single submitter
p.Ile362Val Single submitter
p.Leu4= Single submitter
p.Leu61Val Single submitter
p.Lys293Glu Single submitter
p.Lys407Asn Single submitter
p.Ser348Asn Single submitter
p.Thr888Lys Single submitter

Uncertain significance 107

p.Ala115Ser Single submitter ⚠
p.Ala115Val Single submitter ⚠
p.Ala240Thr Single submitter
p.Ala288Val Single submitter ⚠
p.Ala323Thr Single submitter ⚠
p.Ala720Ser Single submitter ⚠
p.Ala846Thr Single submitter ⚠
p.Ala897Gly Single submitter ⚠
p.Arg178Gly Single submitter ⚠
p.Arg225Cys Single submitter ⚠
p.Arg285Cys Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg480Gln Single submitter ⚠
p.Arg498Gly Single submitter ⚠
p.Arg592Ser Single submitter ⚠
p.Arg64Pro Single submitter ⚠
p.Asn126Ser Single submitter ⚠
p.Asn262Ser Single submitter ⚠
p.Asn308Ser Single submitter ⚠
p.Asn346Ile Single submitter ⚠
p.Asn723Ser Single submitter ⚠
p.Asp131Val Single submitter ⚠
p.Asp197Glu Single submitter ⚠
p.Asp313Asn Single submitter ⚠
p.Asp510Glu Single submitter ⚠
p.Asp65Asn Single submitter ⚠
p.Asp740Asn Single submitter ⚠
p.Asp752Glu Single submitter ⚠
p.Asp794Gly Single submitter ⚠
p.Asp827Asn Single submitter ⚠
p.Cys875Phe Single submitter ⚠
p.Cys992Arg Single submitter ⚠
p.Gln21Pro Single submitter ⚠
p.Gln559Arg Single submitter ⚠
p.Gln559His Single submitter ⚠
p.Gln832Pro Single submitter ⚠
p.Gln851Pro Single submitter ⚠
p.Glu270Ala Single submitter ⚠
p.Glu358Lys Single submitter ⚠
p.Glu670Lys Single submitter ⚠
p.Glu702Gln Single submitter ⚠
p.Glu892Gly Single submitter ⚠
p.Gly12Cys Single submitter ⚠
p.Gly644Arg Single submitter ⚠
p.Gly730Glu Single submitter ⚠
p.Gly8Ala Single submitter ⚠
p.His210Arg Single submitter ⚠
p.His423Pro Single submitter ⚠
p.His89Asp Single submitter ⚠
p.Ile205Thr Single submitter ⚠
p.Ile572Leu Single submitter ⚠
p.Ile957Val Single submitter ⚠
p.Ile96Thr Single submitter ⚠
p.Ile96Val Single submitter ⚠
p.Leu120Ter Single submitter
p.Leu138Phe Single submitter ⚠
p.Leu163Pro Single submitter ⚠
p.Leu264Arg Single submitter ⚠
p.Leu415Pro Single submitter ⚠
p.Leu742Val Single submitter ⚠
p.Lys145Glu Single submitter ⚠
p.Lys256Thr Single submitter ⚠
p.Lys378Asn Single submitter ⚠
p.Lys44Glu Single submitter ⚠
p.Lys531Glu Single submitter ⚠
p.Lys749Arg Single submitter ⚠
p.Lys757Arg Single submitter ⚠
p.Lys823Gln Single submitter ⚠
p.Lys865Asn Single submitter ⚠
p.Lys879Arg Single submitter ⚠
p.Lys914Asn Single submitter ⚠
p.Met182Arg Single submitter ⚠
p.Met259Thr Single submitter ⚠
p.Met521Arg Single submitter ⚠
p.Met521Val Single submitter ⚠
p.Met717Arg Single submitter ⚠
p.Met781Val Single submitter ⚠
p.Met797Val Single submitter ⚠
p.Met809Lys Single submitter ⚠
p.Phe635Tyr Single submitter ⚠
p.Phe985Val Single submitter ⚠
p.Pro276Leu Single submitter ⚠
p.Pro276Thr Single submitter ⚠
p.Pro946Ser Single submitter ⚠
p.Ser214Gly Single submitter ⚠
p.Ser348Gly Single submitter ⚠
p.Ser361Asn Single submitter ⚠
p.Ser372Asn Single submitter ⚠
p.Ser388Leu Single submitter ⚠
p.Ser506Asn Single submitter ⚠
p.Ser762Leu Single submitter ⚠
p.Ser909Pro Single submitter ⚠
p.Thr939Ala Single submitter ⚠
p.Thr967Met Single submitter ⚠
p.Thr978Ala Single submitter ⚠
p.Trp33Arg Single submitter ⚠
p.Trp447Arg Single submitter ⚠
p.Tyr963His Single submitter ⚠
p.Val208Ile Single submitter ⚠
p.Val373Ala Single submitter ⚠
p.Val384Glu Single submitter ⚠
p.Val476Ala Single submitter ⚠
p.Val507Leu Single submitter ⚠
p.Val629Ile Single submitter ⚠
p.Val773Ile Single submitter ⚠
p.Val802Ile Single submitter ⚠
p.Val902Met Single submitter ⚠