ATF7IP — 152 ClinVar variants

All ClinVar germline ATF7IP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

8 Benign · 14 Likely benign · 130 Uncertain significance

Full ATF7IP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 81

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

Predictors split 53

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

All ATF7IP variants

Benign 8

p.Ala1069Thr Multiple submitters
p.Leu149= Multiple submitters
p.Lys530Arg Multiple submitters ⚠
p.Ser734Asn Multiple submitters ⚠
p.Asn529Ser Single submitter
p.Ser334= Single submitter
p.Ser837Pro Single submitter
p.Val787= Single submitter

Likely benign 14

p.Met573Ile Multiple submitters
p.Ser502Leu Multiple submitters
p.Asp197Gly Single submitter
p.Gly147Arg Single submitter ⚠
p.Ile220Val Single submitter
p.Ile303Thr Single submitter
p.Leu139Arg Single submitter ⚠
p.Leu379Pro Single submitter
p.Leu457= Single submitter
p.Leu607= Single submitter
p.Pro180_Ala189del Single submitter
p.Pro81Ser Single submitter
p.Ser945Asn Single submitter
p.Thr175Ala Single submitter

Uncertain significance 130

p.Ala1191Val Single submitter ⚠
p.Ala226Thr Single submitter ⚠
p.Ala250Thr Single submitter ⚠
p.Ala265Thr Single submitter ⚠
p.Ala347Ser Single submitter ⚠
p.Ala579Thr Single submitter ⚠
p.Ala609Val Single submitter ⚠
p.Ala620Thr Single submitter ⚠
p.Ala921Ser Single submitter ⚠
p.Arg1188Gln Single submitter ⚠
p.Arg23His Single submitter ⚠
p.Arg287Cys Single submitter ⚠
p.Arg363Gln Single submitter ⚠
p.Arg554Gln Single submitter ⚠
p.Arg570Cys Single submitter ⚠
p.Arg570His Single submitter ⚠
p.Arg652Cys Single submitter ⚠
p.Arg663Thr Single submitter ⚠
p.Arg857Lys Single submitter ⚠
p.Arg904Gln Single submitter ⚠
p.Asn1059Asp Single submitter ⚠
p.Asn1109Asp Single submitter ⚠
p.Asn305Asp Single submitter ⚠
p.Asn343Asp Single submitter ⚠
p.Asn398Ser Single submitter ⚠
p.Asn592Ser Single submitter ⚠
p.Asn986His Single submitter ⚠
p.Asp158Asn Single submitter ⚠
p.Asp188Val Single submitter ⚠
p.Asp208Asn Single submitter ⚠
p.Asp323Asn Single submitter ⚠
p.Asp333Gly Single submitter ⚠
p.Asp355Gly Single submitter ⚠
p.Asp374Glu Single submitter ⚠
p.Asp400Val Single submitter ⚠
p.Asp461Asn Single submitter ⚠
p.Gln1061Glu Single submitter ⚠
p.Gln1082Arg Single submitter ⚠
p.Gln1149Pro Single submitter ⚠
p.Gln766Lys Single submitter ⚠
p.Gln980Pro Single submitter ⚠
p.Glu298Lys Single submitter ⚠
p.Glu35Lys Single submitter ⚠
p.Glu469Gln Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu535Asp Single submitter ⚠
p.Glu76Gly Single submitter ⚠
p.Gly272Val Single submitter ⚠
p.Gly745Asp Single submitter ⚠
p.Gly956Arg Single submitter ⚠
p.His1028Arg Single submitter ⚠
p.His115Arg Single submitter ⚠
p.His1202Tyr Single submitter ⚠
p.Ile1216Thr Single submitter ⚠
p.Ile229Met Single submitter ⚠
p.Ile511Thr Single submitter ⚠
p.Ile646Val Single submitter ⚠
p.Ile911Val Single submitter ⚠
p.Ile932Thr Single submitter ⚠
p.Ile940Thr Single submitter ⚠
p.Leu199Ile Single submitter ⚠
p.Leu335Ser Single submitter ⚠
p.Leu406Ile Single submitter ⚠
p.Leu406Val Single submitter ⚠
p.Leu44Phe Single submitter ⚠
p.Leu660His Single submitter ⚠
p.Lys100Arg Single submitter ⚠
p.Lys1214Arg Single submitter ⚠
p.Lys623Gln Single submitter ⚠
p.Lys957Arg Single submitter ⚠
p.Met1081Thr Single submitter ⚠
p.Met390Thr Single submitter ⚠
p.Phe316Leu Single submitter ⚠
p.Pro1010Leu Single submitter ⚠
p.Pro1054Ser Single submitter ⚠
p.Pro119Arg Single submitter ⚠
p.Pro119Leu Single submitter ⚠
p.Pro129Ala Single submitter ⚠
p.Pro214Leu Single submitter ⚠
p.Pro249Thr Single submitter ⚠
p.Pro308Arg Single submitter ⚠
p.Pro531Thr Single submitter ⚠
p.Pro756His Single submitter ⚠
p.Pro768Leu Single submitter ⚠
p.Pro823Ser Single submitter ⚠
p.Pro851Thr Single submitter ⚠
p.Pro900Ala Single submitter ⚠
p.Pro998Ser Single submitter ⚠
p.Ser1020Asn Single submitter ⚠
p.Ser1173Arg Single submitter ⚠
p.Ser331Arg Single submitter ⚠
p.Ser512Leu Single submitter ⚠
p.Ser546Pro Single submitter ⚠
p.Ser552Tyr Single submitter ⚠
p.Ser849Pro Single submitter ⚠
p.Ser854Arg Single submitter ⚠
p.Ser854Gly Single submitter ⚠
p.Ser862Gly Single submitter ⚠
p.Ser917Gly Single submitter ⚠
p.Ser945Ile Single submitter ⚠
p.Thr1131Ala Single submitter ⚠
p.Thr155Ile Single submitter ⚠
p.Thr17Ala Single submitter ⚠
p.Thr190Ile Single submitter ⚠
p.Thr357Lys Single submitter ⚠
p.Thr409Met Single submitter ⚠
p.Thr455Pro Single submitter ⚠
p.Thr516Met Single submitter ⚠
p.Thr750Ala Single submitter ⚠
p.Thr824Arg Single submitter ⚠
p.Thr860Ala Single submitter ⚠
p.Thr860Asn Single submitter ⚠
p.Thr860Ile Single submitter ⚠
p.Thr868Ala Single submitter ⚠
p.Thr988Ala Single submitter ⚠
p.Tyr572Cys Single submitter ⚠
p.Tyr898Cys Single submitter ⚠
p.Val1037Met Single submitter ⚠
p.Val1086Ile Single submitter ⚠
p.Val1095Ile Single submitter ⚠
p.Val1106Gly Single submitter ⚠
p.Val1137Met Single submitter ⚠
p.Val300Leu Single submitter ⚠
p.Val510Ile Single submitter ⚠
p.Val537Ile Single submitter ⚠
p.Val614Ile Single submitter ⚠
p.Val783Met Single submitter ⚠
p.Val847Ile Single submitter ⚠
p.Val872Ala Single submitter ⚠
p.Val97Ile Single submitter ⚠