CCDC144A — 160 ClinVar variants

All ClinVar germline CCDC144A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

24 Likely benign · 136 Uncertain significance

Full CCDC144A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 106

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

Predictors split 33

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

All CCDC144A variants

Likely benign 24

p.Arg1192Cys Single submitter
p.Arg925His Single submitter ⚠
p.Asn675Lys Single submitter
p.Asp1104Asn Single submitter
p.Asp1253Asn Single submitter
p.Asp821Asn Single submitter
p.Gln210= Single submitter
p.Glu232= Single submitter
p.Gly33Glu Single submitter
p.Ile1023Asn Single submitter
p.Ile1023Thr Single submitter
p.Ile265Val Single submitter
p.Ile99Val Single submitter
p.Leu320= Single submitter
p.Leu879Phe Single submitter ⚠
p.Met1103Ile Single submitter
p.Met437Thr Single submitter
p.Ser1295Asn Single submitter
p.Ser226Leu Single submitter
p.Val1134Ala Single submitter
p.Val1335Ala Single submitter
p.Val294Ile Single submitter
p.Val948Phe Single submitter
p.Val956Phe Single submitter ⚠

Uncertain significance 136

p.Ala1033Ser Single submitter ⚠
p.Ala1080Val Single submitter ⚠
p.Ala1121Ser Single submitter ⚠
p.Ala1195Thr Single submitter ⚠
p.Ala1206Ser Single submitter ⚠
p.Ala1206Val Single submitter ⚠
p.Ala1381Gly Single submitter ⚠
p.Ala1382= Single submitter ⚠
p.Ala19Thr Single submitter ⚠
p.Ala349Thr Single submitter ⚠
p.Ala425Glu Single submitter ⚠
p.Ala425Thr Single submitter ⚠
p.Ala515Asp Single submitter ⚠
p.Ala855Pro Single submitter ⚠
p.Arg1053Gln Single submitter ⚠
p.Arg1187Ile Single submitter ⚠
p.Arg1316Thr Single submitter ⚠
p.Arg189Pro Single submitter ⚠
p.Arg564Gly Single submitter ⚠
p.Arg89Gln Single submitter ⚠
p.Arg89Trp Single submitter ⚠
p.Arg917His Single submitter ⚠
p.Arg934Ser Single submitter ⚠
p.Arg944Ser Single submitter ⚠
p.Asn423Ser Single submitter ⚠
p.Asn507Ser Single submitter ⚠
p.Asn887Ser Single submitter ⚠
p.Asn980Tyr Single submitter ⚠
p.Asp1253Glu Single submitter ⚠
p.Asp259Asn Single submitter ⚠
p.Asp262Asn Single submitter ⚠
p.Asp406Asn Single submitter ⚠
p.Asp555Glu Single submitter ⚠
p.Asp816Glu Single submitter ⚠
p.Asp935Glu Single submitter ⚠
p.Asp957Gly Single submitter ⚠
p.Cys258Tyr Single submitter ⚠
p.Cys344Arg Single submitter ⚠
p.Gln1025Glu Single submitter ⚠
p.Gln1046Arg Single submitter ⚠
p.Gln1152Pro Single submitter ⚠
p.Gln44Arg Single submitter ⚠
p.Gln658Glu Single submitter ⚠
p.Glu1024Val Single submitter ⚠
p.Glu1203Lys Single submitter ⚠
p.Glu1211Gly Single submitter ⚠
p.Glu1272Lys Single submitter ⚠
p.Glu233Asp Single submitter ⚠
p.Glu359Lys Single submitter ⚠
p.Glu494Val Single submitter ⚠
p.Glu580Gln Single submitter ⚠
p.Glu693Gly Single submitter ⚠
p.Glu777Gly Single submitter ⚠
p.Glu872Val Single submitter ⚠
p.Glu891Asp Single submitter ⚠
p.Glu966Gly Single submitter ⚠
p.Gly239Glu Single submitter ⚠
p.Gly39Asp Single submitter ⚠
p.Gly543Val Single submitter ⚠
p.Gly548Ser Single submitter ⚠
p.Gly65Cys Single submitter ⚠
p.Gly82Ser Single submitter ⚠
p.His1348Arg Single submitter ⚠
p.His141Asn Single submitter ⚠
p.His271Arg Single submitter ⚠
p.His271Tyr Single submitter ⚠
p.His397Arg Single submitter ⚠
p.His534Gln Single submitter ⚠
p.His570Arg Single submitter ⚠
p.His98Asn Single submitter ⚠
p.Ile1160Thr Single submitter ⚠
p.Ile1210Thr Single submitter ⚠
p.Ile783Met Single submitter ⚠
p.Ile866Ser Single submitter ⚠
p.Leu1000Ser Single submitter ⚠
p.Leu1093Ile Single submitter ⚠
p.Leu1141Pro Single submitter ⚠
p.Leu205Phe Single submitter ⚠
p.Leu293Phe Single submitter ⚠
p.Leu337Ser Single submitter ⚠
p.Leu396Val Single submitter ⚠
p.Leu635Pro Single submitter ⚠
p.Leu677Val Single submitter ⚠
p.Leu869Arg Single submitter ⚠
p.Lys1100Thr Single submitter ⚠
p.Lys1169Arg Single submitter ⚠
p.Lys156Arg Single submitter ⚠
p.Lys156Gln Single submitter ⚠
p.Lys191Met Single submitter ⚠
p.Lys220Gln Single submitter ⚠
p.Lys274Asn Single submitter ⚠
p.Lys467Asn Single submitter ⚠
p.Lys847Asn Single submitter ⚠
p.Met1020Ile Single submitter ⚠
p.Met1020Leu Single submitter ⚠
p.Met1103Thr Single submitter ⚠
p.Met1189Val Single submitter ⚠
p.Met1247Ile Single submitter ⚠
p.Met254Ile Single submitter ⚠
p.Met531Thr Single submitter ⚠
p.Met913Lys Single submitter ⚠
p.Met958Ile Single submitter ⚠
p.Phe361Leu Single submitter ⚠
p.Phe49Leu Single submitter ⚠
p.Phe513Ser Single submitter ⚠
p.Pro252Gln Single submitter ⚠
p.Pro264Arg Single submitter ⚠
p.Pro362His Single submitter ⚠
p.Pro480Ser Single submitter ⚠
p.Ser1065Thr Single submitter ⚠
p.Ser1070Gly Single submitter ⚠
p.Ser1305Asn Single submitter ⚠
p.Ser1317Ala Single submitter ⚠
p.Ser1319Pro Single submitter ⚠
p.Ser1341Asn Single submitter ⚠
p.Ser15Phe Single submitter ⚠
p.Ser381Pro Single submitter ⚠
p.Ser460Asn Single submitter ⚠
p.Ser47Leu Single submitter ⚠
p.Ser969Phe Single submitter ⚠
p.Thr1271Ile Single submitter ⚠
p.Thr1326Ala Single submitter ⚠
p.Thr1383Asn Single submitter ⚠
p.Thr146Ile Single submitter ⚠
p.Thr194Pro Single submitter ⚠
p.Thr338Lys Single submitter ⚠
p.Thr877Arg Single submitter ⚠
p.Trp53Cys Single submitter ⚠
p.Trp694Arg Single submitter ⚠
p.Trp947Gly Single submitter ⚠
p.Tyr376Cys Single submitter ⚠
p.Tyr466Cys Single submitter ⚠
p.Val1329Ala Single submitter ⚠
p.Val1335Phe Single submitter ⚠
p.Val20Phe Single submitter ⚠
p.Val856Met Single submitter ⚠