ANKRD27 — 172 ClinVar variants

All ClinVar germline ANKRD27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

12 Likely benign · 160 Uncertain significance

Full ANKRD27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 135

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

Predictors split 20

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

All ANKRD27 variants

Likely benign 12

p.Ala369Val Single submitter
p.Ala630Val Single submitter
p.Ala699Val Single submitter
p.Ala728= Single submitter
p.Ala757Val Single submitter
p.Arg877Cys Single submitter
p.Asp707= Single submitter
p.Glu645Gly Single submitter
p.Gly991Arg Single submitter
p.Leu343Ser Single submitter
p.Met654Val Single submitter
p.Ser741Asn Single submitter

Uncertain significance 160

p.Ala199Ser Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala344Ser Single submitter ⚠
p.Ala344Thr Single submitter ⚠
p.Ala406Pro Single submitter ⚠
p.Ala476Thr Single submitter ⚠
p.Ala522Ser Single submitter ⚠
p.Ala522Val Single submitter ⚠
p.Ala547Ser Single submitter ⚠
p.Ala752Pro Single submitter ⚠
p.Ala752Ser Single submitter ⚠
p.Ala752Val Single submitter ⚠
p.Ala834Ser Single submitter ⚠
p.Ala867Pro Single submitter ⚠
p.Ala87Ser Single submitter ⚠
p.Ala883Gly Single submitter ⚠
p.Ala945Pro Single submitter ⚠
p.Arg1020Gln Single submitter ⚠
p.Arg1020Gly Single submitter ⚠
p.Arg1049Trp Single submitter ⚠
p.Arg164Gln Single submitter ⚠
p.Arg21His Single submitter ⚠
p.Arg339Met Single submitter ⚠
p.Arg363Trp Single submitter ⚠
p.Arg386Thr Single submitter ⚠
p.Arg574His Single submitter
p.Arg623Ser Single submitter ⚠
p.Arg637Cys Single submitter ⚠
p.Arg637His Single submitter ⚠
p.Arg637Leu Single submitter ⚠
p.Arg686His Single submitter ⚠
p.Arg726Gly Single submitter ⚠
p.Arg756Gln Single submitter ⚠
p.Arg756Pro Single submitter ⚠
p.Arg875Gln Single submitter ⚠
p.Arg875Trp Single submitter ⚠
p.Arg911Cys Single submitter ⚠
p.Arg959Gly Single submitter ⚠
p.Asn102Ser Single submitter ⚠
p.Asn769Asp Single submitter ⚠
p.Asn886Asp Single submitter ⚠
p.Asn999Tyr Single submitter ⚠
p.Asp438Val Single submitter ⚠
p.Asp480Asn Single submitter ⚠
p.Asp698Val Single submitter ⚠
p.Asp707Glu Single submitter ⚠
p.Asp72Gly Single submitter ⚠
p.Asp798His Single submitter ⚠
p.Asp881Asn Single submitter ⚠
p.Asp904Ala Single submitter ⚠
p.Cys166Arg Single submitter ⚠
p.Cys25Tyr Single submitter ⚠
p.Cys473Arg Single submitter ⚠
p.Cys604Phe Single submitter ⚠
p.Gln251Arg Single submitter
p.Gln251Glu Single submitter ⚠
p.Gln282Pro Single submitter ⚠
p.Gln296Arg Single submitter ⚠
p.Gln475Glu Single submitter ⚠
p.Gln578Arg Single submitter ⚠
p.Gln786His Single submitter ⚠
p.Glu1004Gly Single submitter ⚠
p.Glu1034Gly Single submitter ⚠
p.Glu150Lys Single submitter ⚠
p.Glu270Gly Single submitter ⚠
p.Glu356Lys Single submitter ⚠
p.Glu523Gln Single submitter ⚠
p.Glu622Lys Single submitter ⚠
p.Glu629Lys Single submitter ⚠
p.Glu669Gln Single submitter ⚠
p.Glu824Lys Single submitter ⚠
p.Glu860Lys Single submitter ⚠
p.Glu933Lys Single submitter ⚠
p.Gly376Arg Single submitter ⚠
p.Gly474Ala Single submitter ⚠
p.Gly744Val Single submitter ⚠
p.Gly788Ser Single submitter ⚠
p.Gly820Ser Single submitter ⚠
p.His1022Tyr Single submitter ⚠
p.His194Asn Single submitter ⚠
p.His464Arg Single submitter ⚠
p.His464Asn Single submitter ⚠
p.His464Tyr Single submitter ⚠
p.His468Leu Single submitter ⚠
p.His501Arg Single submitter ⚠
p.His570Arg Single submitter ⚠
p.His754Arg Single submitter ⚠
p.His993Pro Single submitter ⚠
p.Ile335Thr Single submitter ⚠
p.Ile34Leu Single submitter ⚠
p.Leu181Val Single submitter ⚠
p.Leu246Phe Single submitter ⚠
p.Leu271Pro Single submitter ⚠
p.Leu36Ser Single submitter ⚠
p.Leu390Val Single submitter ⚠
p.Leu448Phe Single submitter ⚠
p.Leu481Phe Single submitter ⚠
p.Leu688Val Single submitter ⚠
p.Lys136Glu Single submitter ⚠
p.Lys209Arg Single submitter ⚠
p.Lys40Glu Single submitter ⚠
p.Lys485Arg Single submitter ⚠
p.Lys765Asn Single submitter ⚠
p.Lys794Thr Single submitter ⚠
p.Lys81Glu Single submitter ⚠
p.Lys874Arg Single submitter ⚠
p.Met231Val Single submitter ⚠
p.Phe159Leu Single submitter ⚠
p.Phe86Ile Single submitter
p.Phe941Leu Single submitter ⚠
p.Pro1033Arg Single submitter ⚠
p.Pro371Arg Single submitter ⚠
p.Pro371Thr Single submitter ⚠
p.Pro713Leu Single submitter ⚠
p.Pro747Leu Single submitter ⚠
p.Pro761Ala Single submitter ⚠
p.Pro761Ser Single submitter ⚠
p.Pro803Ser Single submitter ⚠
p.Pro931Ala Single submitter ⚠
p.Pro964Ala Single submitter ⚠
p.Ser245Arg Single submitter ⚠
p.Ser245Asn Single submitter ⚠
p.Ser297Cys Single submitter ⚠
p.Ser333Arg Single submitter ⚠
p.Ser44Leu Single submitter ⚠
p.Ser555Leu Single submitter ⚠
p.Ser627Leu Single submitter ⚠
p.Ser627Pro Single submitter ⚠
p.Ser627Thr Single submitter ⚠
p.Ser628Phe Single submitter ⚠
p.Ser628Pro Single submitter ⚠
p.Ser638Phe Single submitter ⚠
p.Ser746Ala Single submitter ⚠
p.Ser799Leu Single submitter ⚠
p.Ser898Gly Single submitter ⚠
p.Ser925Pro Single submitter ⚠
p.Ser944Leu Single submitter ⚠
p.Thr1041Ala Single submitter ⚠
p.Thr323Ala Single submitter ⚠
p.Thr353Ile Single submitter ⚠
p.Thr455Ile Single submitter ⚠
p.Thr531Met Single submitter ⚠
p.Thr952Ile Single submitter ⚠
p.Trp575Arg Single submitter ⚠
p.Trp923Ser Single submitter ⚠
p.Tyr550His Single submitter
p.Tyr551His Single submitter ⚠
p.Val212Leu Single submitter ⚠
p.Val216Ile Single submitter ⚠
p.Val228Leu Single submitter ⚠
p.Val28Ala Single submitter ⚠
p.Val427Ile Single submitter ⚠
p.Val454Phe Single submitter ⚠
p.Val685Leu Single submitter
p.Val739Met Single submitter ⚠
p.Val856Ile Single submitter ⚠
p.Val859Ile Single submitter ⚠
p.Val859Leu Single submitter ⚠
p.Val895Ala Single submitter ⚠
p.Val900Ile Single submitter ⚠