BTAF1 — 242 ClinVar variants
All ClinVar germline BTAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 147 flagged for review →
76 Benign · 6 Likely benign · 160 Uncertain significance
Full BTAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 147
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 115
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BTAF1 p.Ala1003Val Uncertain significance Single submitter
- BTAF1 p.Ala1030Gly Uncertain significance Single submitter
- BTAF1 p.Ala1231Val Uncertain significance Single submitter
- BTAF1 p.Ala1313Thr Uncertain significance Single submitter
- BTAF1 p.Ala1462Val Uncertain significance Single submitter
- BTAF1 p.Ala1806Gly Uncertain significance Single submitter
- BTAF1 p.Ala181Ser Uncertain significance Single submitter
- BTAF1 p.Ala594Val Uncertain significance Single submitter
- BTAF1 p.Ala738Thr Uncertain significance Single submitter
- BTAF1 p.Arg1058Lys Uncertain significance Single submitter
- BTAF1 p.Arg146Gln Uncertain significance Single submitter
- BTAF1 p.Arg1686Lys Uncertain significance Single submitter
- BTAF1 p.Arg795Gln Uncertain significance Single submitter
- BTAF1 p.Asn170Ser Uncertain significance Single submitter
- BTAF1 p.Asn259Tyr Uncertain significance Single submitter
- BTAF1 p.Asn875Ser Uncertain significance Single submitter
- BTAF1 p.Asp104Gly Uncertain significance Single submitter
- BTAF1 p.Asp1200Gly Uncertain significance Single submitter
- BTAF1 p.Asp1658Asn Uncertain significance Single submitter
- BTAF1 p.Asp1801Asn Uncertain significance Single submitter
- BTAF1 p.Asp239Glu Uncertain significance Single submitter
- BTAF1 p.Asp756His Uncertain significance Single submitter
- BTAF1 p.Cys1324Gly Uncertain significance Single submitter
- BTAF1 p.Gln1370Arg Uncertain significance Single submitter
- BTAF1 p.Gln1372Arg Uncertain significance Single submitter
- BTAF1 p.Gln191Glu Uncertain significance Single submitter
- BTAF1 p.Gln465His Uncertain significance Single submitter
- BTAF1 p.Gln508Pro Uncertain significance Single submitter
- BTAF1 p.Gln548Arg Uncertain significance Single submitter
- BTAF1 p.Glu1598Lys Uncertain significance Single submitter
- BTAF1 p.Glu1807Val Uncertain significance Single submitter
- BTAF1 p.Glu1833Lys Uncertain significance Single submitter
- BTAF1 p.Glu244Gly Uncertain significance Single submitter
- BTAF1 p.Glu280Gly Uncertain significance Single submitter
- BTAF1 p.Glu300Val Uncertain significance Single submitter
- BTAF1 p.Gly1631Arg Uncertain significance Single submitter
- BTAF1 p.Gly320Ala Uncertain significance Single submitter
- BTAF1 p.Gly356Glu Uncertain significance Single submitter
- BTAF1 p.Gly639Ser Uncertain significance Single submitter
- BTAF1 p.His1311Arg Uncertain significance Single submitter
- BTAF1 p.His1608Arg Uncertain significance Single submitter
- BTAF1 p.His1846Tyr Uncertain significance Single submitter
- BTAF1 p.Ile1009Thr Uncertain significance Single submitter
- BTAF1 p.Ile1034Val Uncertain significance Single submitter
- BTAF1 p.Ile1166Val Uncertain significance Single submitter
- BTAF1 p.Ile1223Val Uncertain significance Single submitter
- BTAF1 p.Ile1262Leu Uncertain significance Single submitter
- BTAF1 p.Ile1659Met Uncertain significance Single submitter
- BTAF1 p.Ile1689Val Uncertain significance Single submitter
- BTAF1 p.Ile1699Val Uncertain significance Single submitter
- BTAF1 p.Ile1743Thr Uncertain significance Single submitter
- BTAF1 p.Ile265Met Uncertain significance Single submitter
- BTAF1 p.Ile332Phe Uncertain significance Single submitter
- BTAF1 p.Ile49Met Uncertain significance Single submitter
- BTAF1 p.Ile557Thr Uncertain significance Single submitter
- BTAF1 p.Ile579Val Uncertain significance Single submitter
- BTAF1 p.Ile704Val Uncertain significance Single submitter
- BTAF1 p.Ile901Val Uncertain significance Single submitter
- BTAF1 p.Ile983Val Uncertain significance Single submitter
- BTAF1 p.Leu1021Val Uncertain significance Single submitter
- BTAF1 p.Leu35Phe Uncertain significance Single submitter
- BTAF1 p.Leu867Met Uncertain significance Single submitter
- BTAF1 p.Leu923Phe Uncertain significance Single submitter
- BTAF1 p.Lys1148Thr Uncertain significance Single submitter
- BTAF1 p.Lys1161Gln Uncertain significance Single submitter
- BTAF1 p.Lys1239Glu Uncertain significance Single submitter
- BTAF1 p.Lys886Arg Uncertain significance Single submitter
- BTAF1 p.Met1096Val Uncertain significance Single submitter
- BTAF1 p.Met1125Val Uncertain significance Single submitter
- BTAF1 p.Met1173Val Uncertain significance Single submitter
- BTAF1 p.Met1737Val Uncertain significance Single submitter
- BTAF1 p.Met323Thr Uncertain significance Single submitter
- BTAF1 p.Met664Thr Uncertain significance Single submitter
- BTAF1 p.Met664Val Uncertain significance Single submitter
- BTAF1 p.Met680Val Uncertain significance Single submitter
- BTAF1 p.Phe358Tyr Uncertain significance Single submitter
- BTAF1 p.Pro1019Ala Uncertain significance Single submitter
- BTAF1 p.Pro1078Leu Uncertain significance Single submitter
- BTAF1 p.Pro1151Ser Uncertain significance Single submitter
- BTAF1 p.Pro1190Leu Uncertain significance Single submitter
- BTAF1 p.Pro1261Ala Uncertain significance Single submitter
- BTAF1 p.Pro1514Ser Uncertain significance Single submitter
- BTAF1 p.Pro1683Ala Uncertain significance Single submitter
- BTAF1 p.Pro667Ser Uncertain significance Single submitter
- BTAF1 p.Pro86Ala Uncertain significance Single submitter
- BTAF1 p.Ser1201Gly Uncertain significance Single submitter
- BTAF1 p.Ser1550Leu Uncertain significance Single submitter
- BTAF1 p.Ser1554Cys Uncertain significance Single submitter
- BTAF1 p.Ser1780Thr Uncertain significance Single submitter
- BTAF1 p.Ser182Thr Uncertain significance Single submitter
- BTAF1 p.Ser271Asn Uncertain significance Single submitter
- BTAF1 p.Ser460Asn Uncertain significance Single submitter
- BTAF1 p.Ser492Ile Uncertain significance Single submitter
- BTAF1 p.Thr1141Ile Uncertain significance Single submitter
- BTAF1 p.Thr1212Ala Uncertain significance Single submitter
- BTAF1 p.Thr1364Ile Uncertain significance Single submitter
- BTAF1 p.Thr1565Ala Uncertain significance Single submitter
- BTAF1 p.Thr1633Ala Uncertain significance Single submitter
- BTAF1 p.Thr543Met Uncertain significance Single submitter
- BTAF1 p.Thr638Ser Uncertain significance Single submitter
- BTAF1 p.Thr669Ala Uncertain significance Single submitter
- BTAF1 p.Thr910Ala Uncertain significance Single submitter
- BTAF1 p.Trp1050Arg Uncertain significance Single submitter
- BTAF1 p.Tyr1112Cys Uncertain significance Single submitter
- BTAF1 p.Tyr896Cys Uncertain significance Single submitter
- BTAF1 p.Val1420Ile Uncertain significance Single submitter
- BTAF1 p.Val1568Ile Uncertain significance Single submitter
- BTAF1 p.Val1585Ile Uncertain significance Single submitter
- BTAF1 p.Val1602Ile Uncertain significance Single submitter
- BTAF1 p.Val378Ile Uncertain significance Single submitter
- BTAF1 p.Val586Ile Uncertain significance Single submitter
- BTAF1 p.Val697Ile Uncertain significance Single submitter
- BTAF1 p.Val769Ile Uncertain significance Single submitter
- BTAF1 p.Val994Leu Uncertain significance Single submitter
-
BTAF1 p.Lys1257Arg
Uncertain significance
No assertion criteria
BTAF1-related disorder
Predictors split 32
The independent predictors disagree with each other — read with care.
- BTAF1 p.Ala1775Val Uncertain significance Single submitter
- BTAF1 p.Arg1025Ser Uncertain significance Single submitter
- BTAF1 p.Arg1464Gln Uncertain significance Single submitter
- BTAF1 p.Arg1747Cys Uncertain significance Single submitter
- BTAF1 p.Arg247Trp Uncertain significance Single submitter
- BTAF1 p.Arg676Gly Uncertain significance Single submitter
- BTAF1 p.Arg753Leu Uncertain significance Single submitter
- BTAF1 p.Arg773Gln Uncertain significance Single submitter
- BTAF1 p.Cys690Trp Uncertain significance Single submitter
- BTAF1 p.Gln1834His Uncertain significance Single submitter
- BTAF1 p.Glu127Lys Uncertain significance Single submitter
- BTAF1 p.Glu172Gly Uncertain significance Single submitter
- BTAF1 p.His1741Tyr Uncertain significance Single submitter
- BTAF1 p.His619Gln Uncertain significance Single submitter
- BTAF1 p.His619Tyr Uncertain significance Single submitter
- BTAF1 p.Ile1302Val Uncertain significance Single submitter
- BTAF1 p.Ile878Met Uncertain significance Single submitter
- BTAF1 p.Leu101Phe Uncertain significance Single submitter
- BTAF1 p.Lys1347Arg Uncertain significance Single submitter
- BTAF1 p.Lys886Glu Uncertain significance Single submitter
- BTAF1 p.Met1789Val Uncertain significance Single submitter
- BTAF1 p.Met882Ile Uncertain significance Single submitter
- BTAF1 p.Phe1393Leu Uncertain significance Single submitter
- BTAF1 p.Pro1056Leu Uncertain significance Single submitter
- BTAF1 p.Pro1591Arg Uncertain significance Single submitter
- BTAF1 p.Ser1479Ile Uncertain significance Single submitter
- BTAF1 p.Ser1549Phe Uncertain significance Single submitter
- BTAF1 p.Thr1212Met Uncertain significance Single submitter
- BTAF1 p.Thr529Ile Uncertain significance Single submitter
- BTAF1 p.Trp1050Leu Uncertain significance Single submitter
- BTAF1 p.Val674Leu Uncertain significance Single submitter
- BTAF1 p.Val800Ala Uncertain significance Single submitter
All BTAF1 variants
Benign 76
- c.1264-96A>G Multiple submitters
- c.139-60C>T Multiple submitters
- c.15-104C>T Multiple submitters
- c.1755+114T>C Multiple submitters
- c.2854+43T>G Multiple submitters
- c.3200-129G>A Multiple submitters
- c.3661-83G>A Multiple submitters
- c.3813+64G>C Multiple submitters
- c.400+118G>A Multiple submitters
- c.400+80C>T Multiple submitters
- c.4104-62T>C Multiple submitters
- c.4181+50C>G Multiple submitters
- c.4311+20T>A Multiple submitters
- c.4584+31G>T Multiple submitters
- c.4584+6G>A Multiple submitters
- c.4585-144G>A Multiple submitters
- c.4710+35A>G Multiple submitters
- c.5235+49A>C Multiple submitters
- c.565-89T>G Multiple submitters
- c.701+128T>G Multiple submitters
- c.832-83G>C Multiple submitters
- c.900+139C>T Multiple submitters
- c.990+176G>T Multiple submitters
- c.991-11T>C Multiple submitters
- c.991-33A>G Multiple submitters
- c.991-35A>G Multiple submitters
- c.991-37A>G Multiple submitters
- c.991-39A>G Multiple submitters
- c.991-41A>G Multiple submitters
- c.991-43A>G Multiple submitters
- p.Leu874= Multiple submitters
- p.Pro1224= Multiple submitters
- c.1263+233T>C Single submitter
- c.1263+287C>T Single submitter
- c.1264-228_1264-225del Single submitter
- c.14+299G>C Single submitter
- c.1404+316G>T Single submitter
- c.1529+243C>T Single submitter
- c.1529+308G>A Single submitter
- c.1530-304C>T Single submitter
- c.254-123TG[10] Single submitter
- c.254-123TG[13] Single submitter
- c.254-123TG[17] Single submitter
- c.254-123TG[19] Single submitter
- c.254-123TG[20] Single submitter
- c.254-127dup Single submitter
- c.254-206T>A Single submitter
- c.2855-280AT[4] Single submitter
- c.3045+156G>A Single submitter
- c.3045+247A>G Single submitter
- c.3200-195G>A Single submitter
- c.3200-222del Single submitter
- c.3309+142T>G Single submitter
- c.3511+160T>G Single submitter
- c.3814-224C>T Single submitter
- c.401-160T>A Single submitter
- c.4584+136G>A Single submitter
- c.4584+285G>A Single submitter
- c.4585-253G>A Single submitter
- c.4585-329A>G Single submitter
- c.4711-208C>T Single submitter
- c.4711-271A>C Single submitter
- c.4864-24_4864-17dup Single submitter
- c.5075+146C>A Single submitter
- c.5076-193A>C Single submitter
- c.5407-16G>T Single submitter
- c.565-131A>G Single submitter
- c.701+177A>G Single submitter
- c.831+177T>C Single submitter
- c.832-198A>G Single submitter
- c.991-275T>C Single submitter
- c.991-44TA[10] Single submitter
- c.991-44TA[13] Single submitter
- c.991-45_991-38del Single submitter
- c.991-66TG[13] Single submitter
- c.991-66TG[14] Single submitter
Likely benign 6
- c.4864-9C>A Single submitter
- p.Gln947= Single submitter
- p.His1707= Single submitter
- p.Leu1553= Single submitter
- p.Val423Ile Single submitter
- p.Arg1692Gln No assertion criteria BTAF1-related disorder
Uncertain significance 160
- p.Ala1003Val Single submitter ⚠
- p.Ala1030Gly Single submitter ⚠
- p.Ala1231Val Single submitter ⚠
- p.Ala1313Thr Single submitter ⚠
- p.Ala1462Val Single submitter ⚠
- p.Ala1775Val Single submitter ⚠
- p.Ala1806Gly Single submitter ⚠
- p.Ala181Ser Single submitter ⚠
- p.Ala24Val Single submitter
- p.Ala448Gly Single submitter
- p.Ala594Val Single submitter ⚠
- p.Ala738Thr Single submitter ⚠
- p.Ala902Thr Single submitter
- p.Arg1025Ser Single submitter ⚠
- p.Arg1058Lys Single submitter ⚠
- p.Arg1464Gln Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg1686Lys Single submitter ⚠
- p.Arg1747Cys Single submitter ⚠
- p.Arg247Trp Single submitter ⚠
- p.Arg676Gly Single submitter ⚠
- p.Arg753Leu Single submitter ⚠
- p.Arg773Gln Single submitter ⚠
- p.Arg795Gln Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn259Tyr Single submitter ⚠
- p.Asn875Ser Single submitter ⚠
- p.Asp104Gly Single submitter ⚠
- p.Asp1200Gly Single submitter ⚠
- p.Asp1658Asn Single submitter ⚠
- p.Asp1801Asn Single submitter ⚠
- p.Asp239Glu Single submitter ⚠
- p.Asp756His Single submitter ⚠
- p.Cys1324Gly Single submitter ⚠
- p.Cys690Trp Single submitter ⚠
- p.Gln1370Arg Single submitter ⚠
- p.Gln1372Arg Single submitter ⚠
- p.Gln1834His Single submitter ⚠
- p.Gln191Glu Single submitter ⚠
- p.Gln465His Single submitter ⚠
- p.Gln508Pro Single submitter ⚠
- p.Gln548Arg Single submitter ⚠
- p.Glu127Lys Single submitter ⚠
- p.Glu1506Lys Single submitter
- p.Glu1598Lys Single submitter ⚠
- p.Glu172Gly Single submitter ⚠
- p.Glu1807Val Single submitter ⚠
- p.Glu1833Lys Single submitter ⚠
- p.Glu244Gly Single submitter ⚠
- p.Glu280Gly Single submitter ⚠
- p.Glu284Lys Single submitter
- p.Glu300Val Single submitter ⚠
- p.Gly1631Arg Single submitter ⚠
- p.Gly320Ala Single submitter ⚠
- p.Gly356Glu Single submitter ⚠
- p.Gly639Ser Single submitter ⚠
- p.His1311Arg Single submitter ⚠
- p.His1608Arg Single submitter ⚠
- p.His1741Tyr Single submitter ⚠
- p.His1846Tyr Single submitter ⚠
- p.His619Gln Single submitter ⚠
- p.His619Tyr Single submitter ⚠
- p.Ile1009Thr Single submitter ⚠
- p.Ile1034Val Single submitter ⚠
- p.Ile1166Val Single submitter ⚠
- p.Ile1223Val Single submitter ⚠
- p.Ile1262Leu Single submitter ⚠
- p.Ile1302Val Single submitter ⚠
- p.Ile1659Met Single submitter ⚠
- p.Ile1689Val Single submitter ⚠
- p.Ile1699Val Single submitter ⚠
- p.Ile1743Thr Single submitter ⚠
- p.Ile265Met Single submitter ⚠
- p.Ile332Phe Single submitter ⚠
- p.Ile435Thr Single submitter
- p.Ile49Met Single submitter ⚠
- p.Ile557Thr Single submitter ⚠
- p.Ile579Val Single submitter ⚠
- p.Ile704Val Single submitter ⚠
- p.Ile878Met Single submitter ⚠
- p.Ile901Val Single submitter ⚠
- p.Ile983Val Single submitter ⚠
- p.Leu101Phe Single submitter ⚠
- p.Leu1021Val Single submitter ⚠
- p.Leu35Phe Single submitter ⚠
- p.Leu867Met Single submitter ⚠
- p.Leu923Phe Single submitter ⚠
- p.Lys1148Thr Single submitter ⚠
- p.Lys1161Gln Single submitter ⚠
- p.Lys1239Glu Single submitter ⚠
- p.Lys1347Arg Single submitter ⚠
- p.Lys886Arg Single submitter ⚠
- p.Lys886Glu Single submitter ⚠
- p.Met1096Val Single submitter ⚠
- p.Met1125Val Single submitter ⚠
- p.Met1173Val Single submitter ⚠
- p.Met1737Val Single submitter ⚠
- p.Met1789Val Single submitter ⚠
- p.Met323Thr Single submitter ⚠
- p.Met664Thr Single submitter ⚠
- p.Met664Val Single submitter ⚠
- p.Met680Val Single submitter ⚠
- p.Met882Ile Single submitter ⚠
- p.Phe1393Leu Single submitter ⚠
- p.Phe358Tyr Single submitter ⚠
- p.Pro1019Ala Single submitter ⚠
- p.Pro1056Leu Single submitter ⚠
- p.Pro1078Leu Single submitter ⚠
- p.Pro1151Ser Single submitter ⚠
- p.Pro1190Leu Single submitter ⚠
- p.Pro1226Leu Single submitter
- p.Pro1261Ala Single submitter ⚠
- p.Pro1514Ser Single submitter ⚠
- p.Pro1591Arg Single submitter ⚠
- p.Pro1683Ala Single submitter ⚠
- p.Pro667Ser Single submitter ⚠
- p.Pro86Ala Single submitter ⚠
- p.Pro913Thr Single submitter
- p.Pro991His Single submitter
- p.Ser1201Gly Single submitter ⚠
- p.Ser1479Ile Single submitter ⚠
- p.Ser1549Phe Single submitter ⚠
- p.Ser1550Leu Single submitter ⚠
- p.Ser1554Cys Single submitter ⚠
- p.Ser1780Thr Single submitter ⚠
- p.Ser182Thr Single submitter ⚠
- p.Ser271Asn Single submitter ⚠
- p.Ser460Asn Single submitter ⚠
- p.Ser492Ile Single submitter ⚠
- p.Thr1141Ile Single submitter ⚠
- p.Thr1212Ala Single submitter ⚠
- p.Thr1212Met Single submitter ⚠
- p.Thr1364Ile Single submitter ⚠
- p.Thr1565Ala Single submitter ⚠
- p.Thr1633Ala Single submitter ⚠
- p.Thr529Ile Single submitter ⚠
- p.Thr543Met Single submitter ⚠
- p.Thr638Ser Single submitter ⚠
- p.Thr669Ala Single submitter ⚠
- p.Thr772Ser Single submitter
- p.Thr910Ala Single submitter ⚠
- p.Trp1050Arg Single submitter ⚠
- p.Trp1050Leu Single submitter ⚠
- p.Tyr1112Cys Single submitter ⚠
- p.Tyr896Cys Single submitter ⚠
- p.Val1149Phe Single submitter
- p.Val1373Leu Single submitter
- p.Val1420Ile Single submitter ⚠
- p.Val1568Ile Single submitter ⚠
- p.Val1585Ile Single submitter ⚠
- p.Val1602Ile Single submitter ⚠
- p.Val1751Ile Single submitter
- p.Val378Ile Single submitter ⚠
- p.Val586Ile Single submitter ⚠
- p.Val674Leu Single submitter ⚠
- p.Val697Ile Single submitter ⚠
- p.Val769Ile Single submitter ⚠
- p.Val800Ala Single submitter ⚠
- p.Val994Leu Single submitter ⚠
- p.Lys1257Arg No assertion criteria BTAF1-related disorder ⚠