BTBD7 — 155 ClinVar variants

All ClinVar germline BTBD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

1 Benign · 3 Likely benign · 151 Uncertain significance

Full BTBD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 151

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 107

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

Predictors split 44

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

All BTBD7 variants

Benign 1

c.2122-13del Single submitter

Likely benign 3

p.Ala1059Thr Single submitter
p.Gly1088Ser Single submitter
p.Pro1070Ser Single submitter

Uncertain significance 151

p.Ala110Thr Single submitter ⚠
p.Ala158Thr Single submitter ⚠
p.Ala359Ser Single submitter ⚠
p.Ala3Val Single submitter ⚠
p.Ala491Asp Single submitter ⚠
p.Ala567Ser Single submitter ⚠
p.Ala567Val Single submitter ⚠
p.Ala675Ser Single submitter ⚠
p.Ala843Thr Single submitter ⚠
p.Ala875Thr Single submitter ⚠
p.Ala983Pro Single submitter ⚠
p.Arg1036Gln Single submitter ⚠
p.Arg1057Gln Single submitter ⚠
p.Arg1090Lys Single submitter ⚠
p.Arg1118Lys Single submitter ⚠
p.Arg238His Single submitter ⚠
p.Arg289Gln Single submitter ⚠
p.Arg294Lys Single submitter ⚠
p.Arg501Ser Single submitter ⚠
p.Arg501Thr Single submitter ⚠
p.Arg502Gln Single submitter ⚠
p.Arg502Trp Single submitter ⚠
p.Arg563Trp Single submitter ⚠
p.Arg572Cys Single submitter ⚠
p.Arg601Gln Single submitter ⚠
p.Arg650His Single submitter ⚠
p.Arg665Trp Single submitter ⚠
p.Arg734His Single submitter ⚠
p.Arg791Cys Single submitter ⚠
p.Arg835Lys Single submitter ⚠
p.Arg862Gln Single submitter ⚠
p.Arg87Gln Single submitter ⚠
p.Arg887Lys Single submitter ⚠
p.Arg924Gln Single submitter ⚠
p.Arg954Gly Single submitter ⚠
p.Asn268Lys Single submitter ⚠
p.Asn290Ser Single submitter ⚠
p.Asn4Ser Single submitter ⚠
p.Asn774Lys Single submitter ⚠
p.Asn77Ser Single submitter ⚠
p.Asn798Asp Single submitter ⚠
p.Asn950Asp Single submitter ⚠
p.Asn99Ser Single submitter ⚠
p.Asp1014Glu Single submitter ⚠
p.Asp1093Glu Single submitter ⚠
p.Asp211Asn Single submitter ⚠
p.Asp338Glu Single submitter ⚠
p.Asp596His Single submitter ⚠
p.Asp934Asn Single submitter ⚠
p.Cys12Tyr Single submitter ⚠
p.Gln1002Pro Single submitter ⚠
p.Gln222His Single submitter ⚠
p.Gln23His Single submitter ⚠
p.Gln34Glu Single submitter ⚠
p.Gln669Arg Single submitter ⚠
p.Gln729Leu Single submitter ⚠
p.Gln782Arg Single submitter ⚠
p.Glu1085Lys Single submitter ⚠
p.Glu180Ala Single submitter ⚠
p.Glu511Asp Single submitter ⚠
p.Glu531Gly Single submitter ⚠
p.Glu903Gln Single submitter ⚠
p.Gly1056Glu Single submitter ⚠
p.Gly360Glu Single submitter ⚠
p.Gly414Asp Single submitter ⚠
p.Gly568Asp Single submitter ⚠
p.Gly62Ser Single submitter ⚠
p.Gly811Val Single submitter ⚠
p.His1016Arg Single submitter ⚠
p.His1026Tyr Single submitter ⚠
p.His1053Arg Single submitter ⚠
p.His343Asp Single submitter ⚠
p.His446Arg Single submitter ⚠
p.Ile320Leu Single submitter ⚠
p.Ile376Thr Single submitter ⚠
p.Ile451Val Single submitter ⚠
p.Ile512Ser Single submitter ⚠
p.Ile522Thr Single submitter ⚠
p.Ile626Thr Single submitter ⚠
p.Leu1075Phe Single submitter ⚠
p.Leu541Phe Single submitter ⚠
p.Leu597Phe Single submitter ⚠
p.Leu600Met Single submitter ⚠
p.Leu724Pro Single submitter ⚠
p.Leu888His Single submitter ⚠
p.Leu888Phe Single submitter ⚠
p.Leu988Phe Single submitter ⚠
p.Lys130Glu Single submitter ⚠
p.Lys500Arg Single submitter ⚠
p.Lys67Ile Single submitter ⚠
p.Lys781Thr Single submitter ⚠
p.Met237Ile Single submitter ⚠
p.Met244Leu Single submitter ⚠
p.Met332Leu Single submitter ⚠
p.Met332Val Single submitter ⚠
p.Met364Val Single submitter ⚠
p.Met476Ile Single submitter ⚠
p.Met476Thr Single submitter ⚠
p.Met602Val Single submitter ⚠
p.Met657Thr Single submitter ⚠
p.Met744Ile Single submitter ⚠
p.Phe948Leu Single submitter ⚠
p.Pro1033Ser Single submitter ⚠
p.Pro546Leu Single submitter ⚠
p.Pro578Ser Single submitter ⚠
p.Pro638Ser Single submitter ⚠
p.Pro649Ser Single submitter ⚠
p.Pro714Thr Single submitter ⚠
p.Pro730Leu Single submitter ⚠
p.Pro739Ser Single submitter ⚠
p.Pro784Ser Single submitter ⚠
p.Pro789Ser Single submitter ⚠
p.Pro813Ser Single submitter ⚠
p.Pro825Leu Single submitter ⚠
p.Pro908Leu Single submitter ⚠
p.Pro958Ala Single submitter ⚠
p.Pro967Ser Single submitter ⚠
p.Pro975Leu Single submitter ⚠
p.Ser1012Tyr Single submitter ⚠
p.Ser1076Pro Single submitter ⚠
p.Ser1094Arg Single submitter ⚠
p.Ser1094Asn Single submitter ⚠
p.Ser172Cys Single submitter ⚠
p.Ser31Cys Single submitter ⚠
p.Ser488Asn Single submitter ⚠
p.Ser913Leu Single submitter ⚠
p.Ser961Ile Single submitter ⚠
p.Thr1062Ser Single submitter ⚠
p.Thr1069Ile Single submitter ⚠
p.Thr1105Ala Single submitter ⚠
p.Thr401Ser Single submitter ⚠
p.Thr449Ala Single submitter ⚠
p.Thr552Ala Single submitter ⚠
p.Thr667Met Single submitter ⚠
p.Thr828Ile Single submitter ⚠
p.Thr837Met Single submitter ⚠
p.Thr844Ile Single submitter ⚠
p.Thr933Ala Single submitter ⚠
p.Thr935Ile Single submitter ⚠
p.Tyr140Cys Single submitter ⚠
p.Tyr32Cys Single submitter ⚠
p.Tyr333Ser Single submitter ⚠
p.Tyr37Cys Single submitter ⚠
p.Tyr579Cys Single submitter ⚠
p.Tyr686Cys Single submitter ⚠
p.Val1030Leu Single submitter ⚠
p.Val144Ile Single submitter ⚠
p.Val250Ile Single submitter ⚠
p.Val358Ile Single submitter ⚠
p.Val586Ala Single submitter ⚠
p.Val619Met Single submitter ⚠