BCL11B (B-cell lymphoma/leukemia 11B) variants and mutations
BCL11B (also known as B-cell lymphoma/leukemia 11B) is a human protein-coding gene encoding a b-cell lymphoma/leukemia 11B protein. It regulates transcriptional programs required for T-cell development, craniofacial development, and nervous-system maturation. Heterozygous pathogenic variants can cause a syndromic neurodevelopmental disorder with immunologic abnormalities and variable craniofacial features. This analysis covers 1,664 BCL11B variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes intellectual developmental disorder with speech delay, dysmorphic facies, and t, immunodeficiency 49, and hereditary disease. Example BCL11B variants include R4H, K5Q, and N8K.
Variant analysis overview
- Gene: BCL11B
- Protein: B-cell lymphoma/leukemia 11B
- UniProt accession: Q9C0K0
- Organism: Homo sapiens
- Variants analyzed: 1664
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 1,105 unspecified-consequence records; 195 synonymous variants; 322 missense variants; 19 stop-gained variants; 16 frameshift variants; 5 in-frame deletions; 2 substitution
- Prediction scores: 1,398 variants have prediction scores (84% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: intellectual developmental disorder with speech delay, dysmorphic facies, and t, immunodeficiency 49, hereditary disease, schizophrenia, bipolar disorder, mathematical ability, obesity disorder, smoking initiation, Snoring, autism spectrum disorder, Intellectual disability, restless legs syndrome.
Protein structure and variant hotspots
- Protein features: 25 post-translational modification sites.
- PTM context: 56 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable BCL11B variants
Examples include R4H, K5Q, N8K, P9L, Q10R, Q14*, Q14R, R15M. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- R4H (p.Arg4His), NCI-TCGA TCGA novel, REVEL 0.26, CADD 29.60, Variant assessed as somatic; moderate impact.
- K5Q (p.Lys5Gln), Ensembl rs1889669201
- N8K (p.Asn8Lys), ExAC rs752301063, gnomAD rs752301063, REVEL 0.14, CADD 16.30
- P9L (p.Pro9Leu), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61738, REVEL 0.42, CADD 29.30, Variant assessed as somatic; moderate impact.
- Q10R (p.Gln10Arg), rs764743438, ClinGen CA7339966, ClinVar RCV003719354, ExAC rs764743438, REVEL 0.09, CADD 23.90, Uncertain significance, not provided
- Q14* (p.Gln14Ter), 1000Genomes rs541517777, CADD 39.00
- Q14R (p.Gln14Arg), 1000Genomes rs1889668361, TOPMed rs1889668361, REVEL 0.08, CADD 22.90
- R15M (p.Arg15Met), Ensembl rs944093083, REVEL 0.22, CADD 24.80
- E16D (p.Glu16Asp), rs1027891253, ClinGen CA266486928, ClinVar RCV002766779, ClinVar RCV004536399, REVEL 0.04, CADD 21.80, Uncertain significance, not provided; BCL11B-related disorder
- L17F (p.Leu17Phe), cosmic curated COSV61738, Ensembl rs1889668001, REVEL 0.12, CADD 19.50
- I18S (p.Ile18Ser), Ensembl rs2139985949
- I18V (p.Ile18Val), ExAC rs776227216, gnomAD rs776227216, REVEL 0.08, CADD 19.80
- T19=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- T19S (p.Thr19Ser), gnomAD rs1221278576, REVEL 0.16, CADD 18.80
- P20S (p.Pro20Ser), TOPMed rs1228198631, gnomAD rs1228198631, REVEL 0.11, CADD 23.20
- P20T (p.Pro20Thr), NCI-TCGA TCGA novel, REVEL 0.12, CADD 22.80, Variant assessed as somatic; moderate impact.
- A22S (p.Ala22Ser), rs758993384, ClinGen CA7339951, ClinVar RCV002676659, ExAC rs758993384, REVEL 0.08, CADD 18.20, Conflicting interpretations, Inborn genetic diseases; not provided
- A22T (p.Ala22Thr), rs758993384, ClinGen CA390939985, ClinVar RCV003031946, REVEL 0.08, CADD 20.40, Uncertain significance, not provided
- D23E (p.Asp23Glu), ExAC rs200739087, TOPMed rs200739087, gnomAD rs200739087, REVEL 0.14, CADD 16.60, Uncertain significance, not specified
- H24L (p.His24Leu), 1000Genomes rs754532599, ExAC rs754532599, TOPMed rs754532599, gnomAD rs754532599, REVEL 0.15, CADD 21.90, Likely benign
- H24R (p.His24Arg), rs754532599, ClinGen CA7339948, ClinVar RCV002096093, ClinVar RCV004045832, REVEL 0.16, CADD 22.70, Likely benign, Inborn genetic diseases; not provided
- H24Y (p.His24Tyr), gnomAD rs1265307819, REVEL 0.27, CADD 23.60
- V25A (p.Val25Ala), TOPMed rs897884211, REVEL 0.06, CADD 22.30
- V25L (p.Val25Leu), TOPMed rs1445671249, gnomAD rs1445671249, REVEL 0.13, CADD 18.80
- A27D (p.Ala27Asp), Ensembl rs2139954475, REVEL 0.13, CADD 23.70
- A28S (p.Ala28Ser), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61738, Variant assessed as somatic; moderate impact.
- A28T (p.Ala28Thr), rs766014776, ClinGen CA7339946, cosmic curated COSV61733, ClinVar RCV001943471, REVEL 0.09, CADD 16.20, Conflicting interpretations, Inborn genetic diseases; not provided
- I29S (p.Ile29Ser), TOPMed rs1889217266
- L30P (p.Leu30Pro), rs2503928439, ClinGen CA390939885, ClinVar RCV003235959, Uncertain significance, not provided
- E31K (p.Glu31Lys), cosmic curated COSV61734, 1000Genomes rs767394342, ExAC rs767394342, TOPMed rs767394342, REVEL 0.19, CADD 22.10, Uncertain significance, not provided
- E32* (p.Glu32Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact., in a patient with amyotrophic lateral sclerosis
- E32D (p.Glu32Asp), ExAC rs761771538, gnomAD rs761771538, REVEL 0.09, CADD 22.10
- E32G (p.Glu32Gly), Ensembl rs1889216581
- E32K (p.Glu32Lys), TOPMed rs1376458085, gnomAD rs1376458085, REVEL 0.25, CADD 24.50, Uncertain significance, not provided
- E32V (p.Glu32Val), UniProt VAR 065741, Uncertain significance, in a patient with amyotrophic lateral sclerosis
- E34D (p.Glu34Asp), ExAC rs769902986, gnomAD rs769902986, REVEL 0.06, CADD 22.50, Likely benign
- E34G (p.Glu34Gly), gnomAD rs967219326, NCI-TCGA TCGA novel, REVEL 0.08, CADD 22.80, Variant assessed as somatic; high impact.
- E34K (p.Glu34Lys), cosmic curated COSV10059, gnomAD rs1889216119, REVEL 0.16, CADD 24.00
- G35C (p.Gly35Cys), rs146559118, ClinGen CA7339939, ClinVar RCV001982851, ESP rs146559118, REVEL 0.10, CADD 25.20, Likely benign, not provided
- G35V (p.Gly35Val), rs2139954283, ClinGen CA390939822, ClinVar RCV002222844, Ensembl rs2139954283, REVEL 0.03, CADD 22.90, Uncertain significance, not provided
- E37D (p.Glu37Asp), TOPMed rs1299952326, gnomAD rs1299952326, REVEL 0.06, CADD 15.60
- I38M (p.Ile38Met), Ensembl rs1020158215
- I38T (p.Ile38Thr), rs1236548020, ClinGen CA390939788, ClinVar RCV003854163, gnomAD rs1236548020, REVEL 0.13, CADD 21.60, Uncertain significance, not provided
- E39K (p.Glu39Lys), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61738, Conflicting interpretations, not provided; not specified
- E40D (p.Glu40Asp), TOPMed rs1889214895, REVEL 0.13, CADD 16.30
- E40K (p.Glu40Lys), rs2503927998, ClinGen CA390939774, ClinVar RCV002296802, ClinVar RCV005406432, REVEL 0.17, CADD 22.70, Conflicting interpretations, not provided; not specified
- S42N (p.Ser42Asn), TOPMed rs1889214637
- G45W (p.Gly45Trp), Ensembl rs2139954168, REVEL 0.24, CADD 25.90
- L46P (p.Leu46Pro), rs2139954162, ClinGen CA390939703, ClinVar RCV001975649, Ensembl rs2139954162, AlphaMissense 0.44, MetaLR 0.03, Uncertain significance, not provided
- M47L (p.Met47Leu), TOPMed rs1230984673, gnomAD rs1230984673
- M47T (p.Met47Thr), ESP rs372022855, ExAC rs372022855, TOPMed rs372022855, gnomAD rs372022855, REVEL 0.10, CADD 18.70, Uncertain significance, Inborn genetic diseases
- V48A (p.Val48Ala), Ensembl rs2139954140
- G49S (p.Gly49Ser), gnomAD rs1309785263
- G50S (p.Gly50Ser), gnomAD rs1889213565, REVEL 0.18, CADD 23.70
- P51L (p.Pro51Leu), cosmic curated COSV10591, TOPMed rs1889213308, gnomAD rs1889213308, REVEL 0.14, CADD 22.90
- D52N (p.Asp52Asn), rs778308976, NCI-TCGA Cosmic COSV1005, ExAC rs778308976, TOPMed rs778308976, REVEL 0.32, CADD 27.20, Variant assessed as somatic; moderate impact.
- D52Y (p.Asp52Tyr), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, Variant assessed as somatic; moderate impact.
- P53R (p.Pro53Arg), 1000Genomes rs535731167, TOPMed rs535731167, REVEL 0.30, CADD 22.90, Uncertain significance, Inborn genetic diseases
- P53T (p.Pro53Thr), cosmic curated COSV10591, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D54V (p.Asp54Val), rs2503927608, ClinGen CA390939608, ClinVar RCV002292189, Uncertain significance, not provided
- L55V (p.Leu55Val), TOPMed rs1200092401, gnomAD rs1200092401, REVEL 0.23, CADD 24.80
- C58Y (p.Cys58Tyr), 1000Genomes rs2139953993, REVEL 0.92, CADD 26.30
- C61F (p.Cys61Phe), rs2139953989, ClinGen CA390939522, ClinVar RCV002272843, Ensembl rs2139953989, AlphaMissense 1.00, MetaLR 1.00, Uncertain significance, Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- Q62R (p.Gln62Arg), ExAC rs772636676, gnomAD rs772636676
- M63I (p.Met63Ile), NCI-TCGA Cosmic COSV1005, NCI-TCGA Cosmic COSV6173, cosmic curated COSV61735, Variant assessed as somatic; moderate impact.
- N64I (p.Asn64Ile), TOPMed rs1889212211
- N64K (p.Asn64Lys), ExAC rs748682573, gnomAD rs748682573, REVEL 0.14, CADD 24.20
- P66L (p.Pro66Leu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, NCI-TCGA Cosmic COSV6173, REVEL 0.43, CADD 27.20, Variant assessed as somatic; moderate impact.
- G68E (p.Gly68Glu), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61733, Variant assessed as somatic; moderate impact.
- G68R (p.Gly68Arg), gnomAD rs1300560260, REVEL 0.20, CADD 23.70
- D69N (p.Asp69Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V72F (p.Val72Phe), gnomAD rs1347438592, REVEL 0.12, CADD 23.50
- I74T (p.Ile74Thr), TOPMed rs1889211075
- I74V (p.Ile74Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E75A (p.Glu75Ala), rs2503927333, ClinGen CA390939347, ClinVar RCV003706506, Uncertain significance, not provided
- E75G (p.Glu75Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R78K (p.Arg78Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R78M (p.Arg78Met), NCI-TCGA Cosmic COSV6173, Variant assessed as somatic; moderate impact.
- Q80* (p.Gln80Ter), rs1555384301, ClinGen CA390939282, ClinVar RCV000623070, Ensembl rs1555384301, CADD 37.00, Pathogenic
- Q80H (p.Gln80His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q80K (p.Gln80Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C81G (p.Cys81Gly), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, Variant assessed as somatic; moderate impact.
- G82D (p.Gly82Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G83A (p.Gly83Ala), rs560208112, ClinGen CA266117378, ClinVar RCV002608937, ExAC rs560208112, REVEL 0.11, CADD 22.30, Benign, not provided
- G83C (p.Gly83Cys), rs115163662, ClinGen CA390939243, ClinVar RCV003057623, AlphaMissense 0.07, MetaLR 0.07, Uncertain significance, not provided
- G83D (p.Gly83Asp), cosmic curated COSV61733, ExAC rs560208112, TOPMed rs560208112, gnomAD rs560208112, REVEL 0.20, CADD 23.90, Benign
- G83S (p.Gly83Ser), rs115163662, ClinGen CA7339930, cosmic curated COSV61738, ClinVar RCV002016696, REVEL 0.07, AlphaMissense 0.07, Benign, not provided
- G86C (p.Gly86Cys), rs1198790814, NCI-TCGA Cosmic COSV6173, gnomAD rs1198790814, REVEL 0.12, CADD 19.50, Variant assessed as somatic; moderate impact.
- G86D (p.Gly86Asp), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61739, Variant assessed as somatic; moderate impact.
- G86S (p.Gly86Ser), rs1198790814, NCI-TCGA Cosmic COSV6173, cosmic curated COSV61734, gnomAD rs1198790814, REVEL 0.06, CADD 17.20, Variant assessed as somatic; moderate impact.
- A87V (p.Ala87Val), rs2503927169, ClinGen CA390939192, ClinVar RCV002903322, Uncertain significance, not provided
- C88Y (p.Cys88Tyr), rs755787448, ClinGen CA7339928, ClinVar RCV001898084, ExAC rs755787448, REVEL 0.47, CADD 25.90, Conflicting interpretations, Inborn genetic diseases; not provided
- D90E (p.Asp90Glu), rs2139953786, ClinGen CA390939150, ClinVar RCV001889802, Ensembl rs2139953786, REVEL 0.04, CADD 16.70, Uncertain significance, not provided
- D90N (p.Asp90Asn), NCI-TCGA Cosmic COSV6174, cosmic curated COSV61740, Variant assessed as somatic; moderate impact.
- K91N (p.Lys91Asn), ExAC rs750180184, gnomAD rs750180184, REVEL 0.13, CADD 22.10
- K91R (p.Lys91Arg), rs2503927093, ClinGen CA390939141, ClinVar RCV002818102, REVEL 0.08, CADD 23.90, Uncertain significance, Inborn genetic diseases
- A92S (p.Ala92Ser), Ensembl rs1889209163
- L93P (p.Leu93Pro), Ensembl rs906838501
- D94E (p.Asp94Glu), rs570461424, 1000Genomes rs570461424, ExAC rs570461424, TOPMed rs570461424, REVEL 0.05, CADD 17.20, Benign, not provided
- K95* (p.Lys95Ter), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, Variant assessed as somatic; high impact.
- D96G (p.Asp96Gly), ESP rs148947748, ExAC rs148947748, TOPMed rs148947748, gnomAD rs148947748, REVEL 0.05, CADD 13.70
- S97N (p.Ser97Asn), cosmic curated COSV61735, Ensembl rs1566832951
- S97R (p.Ser97Arg), rs2503926928, ClinGen CA390939061, ClinVar RCV003565226, REVEL 0.15, CADD 22.20, Uncertain significance, not provided
- P98L (p.Pro98Leu), rs145770156, ClinGen CA7339923, ClinVar RCV002207510, ClinVar RCV004531321, REVEL 0.23, CADD 24.80, Benign, not provided
- P98S (p.Pro98Ser), gnomAD rs1245148457
- P99L (p.Pro99Leu), rs1889207328, ClinGen CA390939044, ClinVar RCV001330355, Ensembl rs1889207328, REVEL 0.18, CADD 24.00, Uncertain significance, Immunodeficiency 49
- P99S (p.Pro99Ser), Ensembl rs1889207450
- P100A (p.Pro100Ala), rs2503926798, ClinGen CA390939036, ClinVar RCV002924265, REVEL 0.09, CADD 21.30, Uncertain significance, Inborn genetic diseases
- S101A (p.Ser101Ala), gnomAD rs1383379624, REVEL 0.03, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- S101F (p.Ser101Phe), gnomAD rs1175772608
- S101T (p.Ser101Thr), rs1383379624, ClinGen CA390939028, ClinVar RCV002469845, AlphaMissense 0.06, MetaLR 0.02, Uncertain significance, not provided
- S102L (p.Ser102Leu), rs887339908, ClinGen CA266117330, ClinVar RCV002637626, TOPMed rs887339908, REVEL 0.05, CADD 23.60, Uncertain significance, not provided
- R103C (p.Arg103Cys), rs201749852, ClinGen CA7339920, cosmic curated COSV10817, ClinVar RCV001319362, REVEL 0.18, CADD 24.90, Likely benign, not provided
- R103G (p.Arg103Gly), 1000Genomes rs201749852, ExAC rs201749852, TOPMed rs201749852, gnomAD rs201749852, REVEL 0.20, CADD 23.10, Uncertain significance
- R103H (p.Arg103His), rs1359029879, ClinGen CA390939002, ClinVar RCV001939134, gnomAD rs1359029879, REVEL 0.07, CADD 22.80, Uncertain significance, not provided
- R103S (p.Arg103Ser), rs201749852, ClinGen CA7339922, ClinVar RCV003448818, ClinVar RCV005100109, REVEL 0.16, CADD 22.90, Uncertain significance, Immunodeficiency 49; not provided
- S104A (p.Ser104Ala), Ensembl rs2139953582, Uncertain significance, Inborn genetic diseases
- S104C (p.Ser104Cys), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10059, REVEL 0.14, CADD 23.70, Variant assessed as somatic; moderate impact.
- S104F (p.Ser104Phe), ExAC rs776593886, gnomAD rs776593886, REVEL 0.14, CADD 23.80
- E105K (p.Glu105Lys), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61734, TOPMed rs1889204751, Variant assessed as somatic; moderate impact.
- E105Q (p.Glu105Gln), TOPMed rs1889204751
- R107S (p.Arg107Ser), rs2503926629, ClinGen CA390938949, ClinVar RCV002296008, REVEL 0.20, CADD 23.70, Uncertain significance, not provided
- K108E (p.Lys108Glu), rs2139953551, ClinGen CA390938943, ClinVar RCV002122788, Ensembl rs2139953551, REVEL 0.13, CADD 24.20, Benign, not provided
- S110P (p.Ser110Pro), TOPMed rs1692809912
- E111D (p.Glu111Asp), ExAC rs772555003, TOPMed rs772555003, gnomAD rs772555003
- E111K (p.Glu111Lys), rs773657707, NCI-TCGA Cosmic COSV6173, cosmic curated COSV61735, ExAC rs773657707, REVEL 0.17, CADD 22.30, Variant assessed as somatic; moderate impact.
- P112A (p.Pro112Ala), rs1477343612, ClinVar RCV004594826, TOPMed rs1477343612, gnomAD rs1477343612, REVEL 0.26, AlphaMissense 0.19, Uncertain significance, Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- P112L (p.Pro112Leu), rs748592687, ClinGen CA7339914, NCI-TCGA Cosmic COSV6173, cosmic curated COSV61735, REVEL 0.28, CADD 27.10, Uncertain significance, not provided
- P112T (p.Pro112Thr), rs1477343612, ClinGen CA390938898, ClinVar RCV003552906, AlphaMissense 0.19, MetaLR 0.18, Uncertain significance, not provided
- V113L (p.Val113Leu), NCI-TCGA Cosmic COSV6173, Variant assessed as somatic; moderate impact.
- V113M (p.Val113Met), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61739, Ensembl rs1889203529, Variant assessed as somatic; moderate impact.
- E114D (p.Glu114Asp), gnomAD rs1293744183, NCI-TCGA TCGA novel, REVEL 0.15, CADD 23.90, Variant assessed as somatic; moderate impact.
- E114V (p.Glu114Val), Ensembl rs2139953452
- I115M (p.Ile115Met), 1000Genomes rs201270106, ExAC rs201270106, TOPMed rs201270106, gnomAD rs201270106, Likely benign
- I115V (p.Ile115Val), rs1483358102, ClinGen CA390938858, ClinVar RCV002667604, TOPMed rs1483358102, REVEL 0.09, CADD 15.60, Uncertain significance, not provided
- G116R (p.Gly116Arg), rs2503926497, ClinGen CA390938847, ClinVar RCV003227448, REVEL 0.38, CADD 27.00, Uncertain significance, not provided
- T120I (p.Thr120Ile), ExAC rs750062446, TOPMed rs750062446, gnomAD rs750062446, REVEL 0.28, CADD 26.50
- T120N (p.Thr120Asn), ExAC rs750062446, TOPMed rs750062446, gnomAD rs750062446, REVEL 0.21, CADD 25.80, Uncertain significance, not provided
- T120P (p.Thr120Pro), Ensembl rs1889202519
- D122E (p.Asp122Glu), ExAC rs757013819, TOPMed rs757013819, gnomAD rs757013819, REVEL 0.07, CADD 0.00, Likely benign
- D122N (p.Asp122Asn), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61734, REVEL 0.09, CADD 23.40, Variant assessed as somatic; moderate impact.
- D122R (p.Asp122Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E123K (p.Glu123Lys), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61735, REVEL 0.12, CADD 23.40, Variant assessed as somatic; moderate impact.
- D124E (p.Asp124Glu), rs912527521, ClinGen CA390938732, ClinVar RCV003230029, REVEL 0.07, CADD 9.59, Uncertain significance, not provided
- H126R (p.His126Arg), cosmic curated COSV61736, ExAC rs764041113, gnomAD rs764041113, REVEL 0.09, CADD 18.40
- H126Y (p.His126Tyr), ExAC rs751358083, gnomAD rs751358083, REVEL 0.11, CADD 22.00, Uncertain significance, not provided
- L127P (p.Leu127Pro), rs753885134, ClinGen CA7339901, ClinVar RCV002722947, ClinVar RCV005099581, REVEL 0.14, CADD 24.50, Uncertain significance, not provided; Inborn genetic diseases
- L127V (p.Leu127Val), 1000Genomes rs529524503, ExAC rs529524503, gnomAD rs529524503, REVEL 0.05, CADD 20.30
- L128F (p.Leu128Phe), TOPMed rs1889201013, REVEL 0.06, CADD 21.10
- L128P (p.Leu128Pro), Ensembl rs1889200887, REVEL 0.13, CADD 22.90
- S129* (p.Ser129Ter), NCI-TCGA Cosmic COSV6173, Variant assessed as somatic; high impact.
- T131M (p.Thr131Met), rs766576104, ClinGen CA7339900, ClinVar RCV001890924, ClinVar RCV004758835, REVEL 0.25, CADD 25.90, Likely benign, not provided; not specified
- C135R (p.Cys135Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C135Y (p.Cys135Tyr), gnomAD rs1476826646, REVEL 0.32, CADD 23.50
- P136L (p.Pro136Leu), TOPMed rs1483630067, gnomAD rs1483630067, REVEL 0.29, CADD 24.40
- Q138K (p.Gln138Lys), TOPMed rs1179460384, gnomAD rs1179460384, REVEL 0.20, CADD 26.20
- E139D (p.Glu139Asp), NCI-TCGA Cosmic COSV6173, cosmic curated COSV61732, Variant assessed as somatic; moderate impact.
- N140T (p.Asn140Thr), ESP rs368883479, ExAC rs368883479, TOPMed rs368883479, gnomAD rs368883479, REVEL 0.04, CADD 23.10, Uncertain significance, not provided; Inborn genetic diseases
- I141L (p.Ile141Leu), NCI-TCGA Cosmic COSV6173, Variant assessed as somatic; moderate impact.
- I141T (p.Ile141Thr), ExAC rs762219159, TOPMed rs762219159, gnomAD rs762219159, REVEL 0.04, CADD 21.40, Uncertain significance, not provided
- I141V (p.Ile141Val), cosmic curated COSV10591, ExAC rs772467266, gnomAD rs772467266, REVEL 0.03, CADD 19.60
- A142T (p.Ala142Thr), Ensembl rs2139953109, REVEL 0.04, CADD 19.50
- G143R (p.Gly143Arg), rs2503926096, ClinGen CA390938506, ClinVar RCV002293954, Uncertain significance, not provided
- G143V (p.Gly143Val), NCI-TCGA TCGA novel, REVEL 0.13, CADD 29.10, Variant assessed as somatic; moderate impact.
- P144L (p.Pro144Leu), rs1457974153, gnomAD rs1457974153, REVEL 0.18, CADD 23.20, Variant assessed as somatic; moderate impact.
- R146K (p.Arg146Lys), Ensembl rs754777257
- A148V (p.Ala148Val), ExAC rs758293081, gnomAD rs758293081, REVEL 0.03, CADD 22.20
- Q149K (p.Gln149Lys), ExAC rs752560767, gnomAD rs752560767, REVEL 0.15, CADD 19.10
- P151Q (p.Pro151Gln), NCI-TCGA TCGA novel, REVEL 0.22, CADD 26.20, Variant assessed as somatic; moderate impact.
- A152V (p.Ala152Val), rs1201537871, ClinGen CA390937480, ClinVar RCV001968581, ClinVar RCV002569182, REVEL 0.08, CADD 22.40, Uncertain significance, not provided; Inborn genetic diseases
- A154T (p.Ala154Thr), rs2503834785, ClinGen CA390937473, ClinVar RCV002803659, Uncertain significance, Inborn genetic diseases
- A154V (p.Ala154Val), rs867773884, ClinGen CA266104614, ClinVar RCV002280259, TOPMed rs867773884, REVEL 0.28, CADD 24.60, Uncertain significance, not provided
- P155H (p.Pro155His), gnomAD rs1242728201, REVEL 0.19, CADD 25.70
- P155S (p.Pro155Ser), gnomAD rs1273489645, REVEL 0.09, CADD 22.10
- I156T (p.Ile156Thr), gnomAD rs1308826329
- I156V (p.Ile156Val), ExAC rs756234100, gnomAD rs756234100, REVEL 0.10, CADD 19.70
- A157T (p.Ala157Thr), gnomAD rs1444761438, REVEL 0.05, CADD 17.90
- A157V (p.Ala157Val), TOPMed rs1360972265, gnomAD rs1360972265, REVEL 0.15, CADD 23.00, Conflicting interpretations, Intellectual developmental disorder with speech delay, dysmorphic facies, and t
- A158T (p.Ala158Thr), TOPMed rs1337887157, REVEL 0.19, CADD 24.20
- A158V (p.Ala158Val), rs2503834681, ClinGen CA390937445, ClinVar RCV002300977, ClinVar RCV004729147, Conflicting interpretations, Intellectual developmental disorder with speech delay, dysmorphic facies, and t
Public BCL11B analysis runs
- BCL11B analysis run — BCL11B (1,664 variants) — completed 2026-08-20