BCLAF1 — 138 ClinVar variants
All ClinVar germline BCLAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
2 Pathogenic · 5 Benign · 1 Benign/Likely benign · 16 Likely benign · 114 Uncertain significance
Full BCLAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BCLAF1 p.Arg271Ser
Pathogenic
No assertion criteria
Pulmonary artery atresia
-
BCLAF1 p.Gln165Lys
Pathogenic
No assertion criteria
Pulmonary artery atresia
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCLAF1 p.Ala169Thr Uncertain significance Single submitter
- BCLAF1 p.Ala310Val Uncertain significance Single submitter
- BCLAF1 p.Ala669Val Uncertain significance Single submitter
- BCLAF1 p.Arg145Cys Uncertain significance Single submitter
- BCLAF1 p.Arg159Gln Uncertain significance Single submitter
- BCLAF1 p.Arg316Lys Uncertain significance Single submitter
- BCLAF1 p.Arg429Gln Uncertain significance Single submitter
- BCLAF1 p.Arg47Cys Uncertain significance Single submitter
- BCLAF1 p.Arg667His Uncertain significance Single submitter
- BCLAF1 p.Arg744Gly Uncertain significance Single submitter
- BCLAF1 p.Asn64Ser Uncertain significance Single submitter
- BCLAF1 p.Asn820Asp Uncertain significance Single submitter
- BCLAF1 p.Asp313Glu Uncertain significance Single submitter
- BCLAF1 p.Asp327Asn Uncertain significance Single submitter
- BCLAF1 p.Asp382Asn Uncertain significance Single submitter
- BCLAF1 p.Asp683Gly Uncertain significance Single submitter
- BCLAF1 p.Gln174Pro Uncertain significance Single submitter
- BCLAF1 p.Gln184Arg Uncertain significance Single submitter
- BCLAF1 p.Gln328Lys Uncertain significance Single submitter
- BCLAF1 p.Gln419Glu Uncertain significance Single submitter
- BCLAF1 p.Gln680His Uncertain significance Single submitter
- BCLAF1 p.Gln827Leu Uncertain significance Single submitter
- BCLAF1 p.Glu175Asp Uncertain significance Single submitter
- BCLAF1 p.Glu910Asp Uncertain significance Single submitter
- BCLAF1 p.Gly399Glu Uncertain significance Single submitter
- BCLAF1 p.Gly92Val Uncertain significance Single submitter
- BCLAF1 p.His748Tyr Uncertain significance Single submitter
- BCLAF1 p.His781Leu Uncertain significance Single submitter
- BCLAF1 p.Ile199Val Uncertain significance Single submitter
- BCLAF1 p.Ile232Thr Uncertain significance Single submitter
- BCLAF1 p.Ile232Val Uncertain significance Single submitter
- BCLAF1 p.Ile305Val Uncertain significance Single submitter
- BCLAF1 p.Leu519Met Uncertain significance Single submitter
- BCLAF1 p.Leu612Val Uncertain significance Single submitter
- BCLAF1 p.Lys393Arg Uncertain significance Single submitter
- BCLAF1 p.Lys441Arg Uncertain significance Single submitter
- BCLAF1 p.Lys475Arg Uncertain significance Single submitter
- BCLAF1 p.Lys647Arg Uncertain significance Single submitter
- BCLAF1 p.Lys734Arg Uncertain significance Single submitter
- BCLAF1 p.Met783Ile Uncertain significance Single submitter
- BCLAF1 p.Phe621Tyr Uncertain significance Single submitter
- BCLAF1 p.Pro149Thr Uncertain significance Single submitter
- BCLAF1 p.Pro187Gln Uncertain significance Single submitter
- BCLAF1 p.Pro187Leu Uncertain significance Single submitter
- BCLAF1 p.Pro229Leu Uncertain significance Single submitter
- BCLAF1 p.Pro231Ser Uncertain significance Single submitter
- BCLAF1 p.Pro235Thr Uncertain significance Single submitter
- BCLAF1 p.Pro323Thr Uncertain significance Single submitter
- BCLAF1 p.Pro758Ser Uncertain significance Single submitter
- BCLAF1 p.Pro761Leu Uncertain significance Single submitter
- BCLAF1 p.Ser183Thr Uncertain significance Single submitter
- BCLAF1 p.Ser315Tyr Uncertain significance Single submitter
- BCLAF1 p.Ser320Leu Uncertain significance Single submitter
- BCLAF1 p.Ser611Phe Uncertain significance Single submitter
- BCLAF1 p.Ser718Ile Uncertain significance Single submitter
- BCLAF1 p.Thr190Ile Uncertain significance Single submitter
- BCLAF1 p.Thr425Pro Uncertain significance Single submitter
- BCLAF1 p.Thr574Ile Uncertain significance Single submitter
- BCLAF1 p.Thr644Ala Uncertain significance Single submitter
- BCLAF1 p.Tyr150Cys Uncertain significance Single submitter
- BCLAF1 p.Tyr71Cys Uncertain significance Single submitter
- BCLAF1 p.Val120Ile Uncertain significance Single submitter
- BCLAF1 p.Val120Phe Uncertain significance Single submitter
- BCLAF1 p.Val251Ala Uncertain significance Single submitter
- BCLAF1 p.Val347Leu Uncertain significance Single submitter
- BCLAF1 p.Val415Phe Uncertain significance Single submitter
- BCLAF1 p.Val674Ala Uncertain significance Single submitter
- BCLAF1 p.Val96Gly Uncertain significance Single submitter
Predictors split 47
The independent predictors disagree with each other — read with care.
- BCLAF1 p.Arg107Gln Uncertain significance Single submitter
- BCLAF1 p.Arg111His Uncertain significance Single submitter
- BCLAF1 p.Arg126Lys Uncertain significance Single submitter
- BCLAF1 p.Arg130Cys Uncertain significance Single submitter
- BCLAF1 p.Arg131Gln Uncertain significance Single submitter
- BCLAF1 p.Arg131Trp Uncertain significance Single submitter
- BCLAF1 p.Arg134Ile Uncertain significance Single submitter
- BCLAF1 p.Arg39His Uncertain significance Single submitter
- BCLAF1 p.Arg51Cys Uncertain significance Single submitter
- BCLAF1 p.Arg51His Uncertain significance Single submitter
- BCLAF1 p.Arg544Cys Uncertain significance Single submitter
- BCLAF1 p.Arg569Ser Uncertain significance Single submitter
- BCLAF1 p.Arg699His Benign Single submitter
- BCLAF1 p.Arg915Cys Benign Single submitter
- BCLAF1 p.Asp211Ala Uncertain significance Single submitter
- BCLAF1 p.Asp351Gly Uncertain significance Single submitter
- BCLAF1 p.Asp541Ala Uncertain significance Single submitter
- BCLAF1 p.Gly83Val Uncertain significance Single submitter
- BCLAF1 p.His615Asp Uncertain significance Single submitter
- BCLAF1 p.His652Asn Uncertain significance Single submitter
- BCLAF1 p.His89Gln Uncertain significance Single submitter
- BCLAF1 p.Ile488Met Uncertain significance Single submitter
- BCLAF1 p.Leu179Phe Uncertain significance Single submitter
- BCLAF1 p.Lys14Gln Uncertain significance Single submitter
- BCLAF1 p.Lys725Ile Uncertain significance Single submitter
- BCLAF1 p.Lys784Thr Uncertain significance Single submitter
- BCLAF1 p.Met67Thr Uncertain significance Single submitter
- BCLAF1 p.Phe191Leu Uncertain significance Single submitter
- BCLAF1 p.Phe336Leu Uncertain significance Single submitter
- BCLAF1 p.Phe869Leu Uncertain significance Single submitter
- BCLAF1 p.Pro223Ala Uncertain significance Single submitter
- BCLAF1 p.Pro231Thr Uncertain significance Single submitter
- BCLAF1 p.Pro830Leu Uncertain significance Single submitter
- BCLAF1 p.Ser161Cys Uncertain significance Single submitter
- BCLAF1 p.Ser228Arg Uncertain significance Single submitter
- BCLAF1 p.Ser243Cys Uncertain significance Single submitter
- BCLAF1 p.Ser259Phe Uncertain significance Single submitter
- BCLAF1 p.Ser319Cys Uncertain significance Single submitter
- BCLAF1 p.Ser36Pro Uncertain significance Single submitter
- BCLAF1 p.Ser389Cys Uncertain significance Single submitter
- BCLAF1 p.Ser749Tyr Uncertain significance Single submitter
- BCLAF1 p.Ser762Arg Uncertain significance Single submitter
- BCLAF1 p.Ser763Phe Uncertain significance Single submitter
- BCLAF1 p.Thr888Asn Benign Single submitter
- BCLAF1 p.Tyr133Cys Uncertain significance Single submitter
- BCLAF1 p.Tyr34His Uncertain significance Single submitter
-
BCLAF1 p.Ser718Arg
Benign
No assertion criteria
BCLAF1-related disorder
All BCLAF1 variants
Pathogenic 2
- p.Arg271Ser No assertion criteria Pulmonary artery atresia ⚠
- p.Gln165Lys No assertion criteria Pulmonary artery atresia ⚠
Benign 5
- p.Arg699His Single submitter ⚠
- p.Arg915Cys Single submitter ⚠
- p.Pro758Thr Single submitter
- p.Thr888Asn Single submitter ⚠
- p.Ser718Arg No assertion criteria BCLAF1-related disorder ⚠
Benign/Likely benign 1
- p.Gly210Ser Multiple submitters
Likely benign 16
- p.Arg694= Single submitter
- p.Asn629= Single submitter
- p.Glu175= Single submitter
- p.Glu481Asp Single submitter
- p.Glu641= Single submitter
- p.Gly446= Single submitter
- p.Ile199= Single submitter
- p.Leu248= Single submitter
- p.Met626Val Single submitter
- p.Pro553= Single submitter
- p.Pro727= Single submitter
- p.Ser440= Single submitter
- p.Val467= Single submitter
- c.2044-3_2044-2insCAAA No assertion criteria BCLAF1-related disorder
- p.Arg764= No assertion criteria BCLAF1-related disorder
- p.Ser883Asn No assertion criteria BCLAF1-related disorder
Uncertain significance 114
- c.2397+1G>C Single submitter
- p.Ala169Thr Single submitter ⚠
- p.Ala310Val Single submitter ⚠
- p.Ala669Val Single submitter ⚠
- p.Arg107Gln Single submitter ⚠
- p.Arg111His Single submitter ⚠
- p.Arg126Lys Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg131Trp Single submitter ⚠
- p.Arg134Ile Single submitter ⚠
- p.Arg145Cys Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg316Lys Single submitter ⚠
- p.Arg39His Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg51Cys Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg544Cys Single submitter ⚠
- p.Arg569Ser Single submitter ⚠
- p.Arg667His Single submitter ⚠
- p.Arg744Gly Single submitter ⚠
- p.Asn64Ser Single submitter ⚠
- p.Asn820Asp Single submitter ⚠
- p.Asp211Ala Single submitter ⚠
- p.Asp313Glu Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp351Gly Single submitter ⚠
- p.Asp382Asn Single submitter ⚠
- p.Asp541Ala Single submitter ⚠
- p.Asp683Gly Single submitter ⚠
- p.Gln174Pro Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Gln328Lys Single submitter ⚠
- p.Gln419Glu Single submitter ⚠
- p.Gln680His Single submitter ⚠
- p.Gln827Leu Single submitter ⚠
- p.Glu175Asp Single submitter ⚠
- p.Glu910Asp Single submitter ⚠
- p.Gly399Glu Single submitter ⚠
- p.Gly83Val Single submitter ⚠
- p.Gly92Val Single submitter ⚠
- p.His615Asp Single submitter ⚠
- p.His652Asn Single submitter ⚠
- p.His748Tyr Single submitter ⚠
- p.His781Leu Single submitter ⚠
- p.His89Gln Single submitter ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile232Val Single submitter ⚠
- p.Ile305Val Single submitter ⚠
- p.Ile488Met Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu519Met Single submitter ⚠
- p.Leu612Val Single submitter ⚠
- p.Lys14Gln Single submitter ⚠
- p.Lys393Arg Single submitter ⚠
- p.Lys441Arg Single submitter ⚠
- p.Lys475Arg Single submitter ⚠
- p.Lys647Arg Single submitter ⚠
- p.Lys725Ile Single submitter ⚠
- p.Lys734Arg Single submitter ⚠
- p.Lys784Thr Single submitter ⚠
- p.Met67Thr Single submitter ⚠
- p.Met783Ile Single submitter ⚠
- p.Phe191Leu Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe621Tyr Single submitter ⚠
- p.Phe869Leu Single submitter ⚠
- p.Pro149Thr Single submitter ⚠
- p.Pro187Gln Single submitter ⚠
- p.Pro187Leu Single submitter ⚠
- p.Pro223Ala Single submitter ⚠
- p.Pro229Leu Single submitter ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro231Thr Single submitter ⚠
- p.Pro235Thr Single submitter ⚠
- p.Pro323Thr Single submitter ⚠
- p.Pro758Ser Single submitter ⚠
- p.Pro761Leu Single submitter ⚠
- p.Pro830Leu Single submitter ⚠
- p.Ser161Cys Single submitter ⚠
- p.Ser183Thr Single submitter ⚠
- p.Ser228Arg Single submitter ⚠
- p.Ser243Cys Single submitter ⚠
- p.Ser259Phe Single submitter ⚠
- p.Ser315Tyr Single submitter ⚠
- p.Ser319Cys Single submitter ⚠
- p.Ser320Leu Single submitter ⚠
- p.Ser36Pro Single submitter ⚠
- p.Ser389Cys Single submitter ⚠
- p.Ser611Phe Single submitter ⚠
- p.Ser718Ile Single submitter ⚠
- p.Ser749Tyr Single submitter ⚠
- p.Ser762Arg Single submitter ⚠
- p.Ser763Phe Single submitter ⚠
- p.Thr190Ile Single submitter ⚠
- p.Thr425Pro Single submitter ⚠
- p.Thr574Ile Single submitter ⚠
- p.Thr644Ala Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr150Cys Single submitter ⚠
- p.Tyr34His Single submitter ⚠
- p.Tyr71Cys Single submitter ⚠
- p.Val120Ile Single submitter ⚠
- p.Val120Phe Single submitter ⚠
- p.Val251Ala Single submitter ⚠
- p.Val347Leu Single submitter ⚠
- p.Val415Phe Single submitter ⚠
- p.Val674Ala Single submitter ⚠
- p.Val96Gly Single submitter ⚠
- c.-114-2_-114-1insC No assertion criteria Fraser syndrome 3
- c.-114-2_-114-1insTCGGCGTGTC No assertion criteria epidermolysis bullosa simplex with nail dystrophy