BUB1B (O60566) variants and mutations
BUB1B (also known as O60566) is a human protein-coding gene encoding a mitotic checkpoint serine/threonine-protein kinase BUB1 beta protein. It enforces the spindle-assembly checkpoint and helps ensure that chromosomes are correctly attached before anaphase begins. Biallelic hypomorphic variants cause mosaic variegated aneuploidy syndrome, with growth abnormalities, developmental impairment, and elevated childhood cancer risk. This analysis covers 1,704 BUB1B variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes mosaic variegated aneuploidy syndrome, mosaic variegated aneuploidy syndrome 1, and premature chromatid separation trait. Example BUB1B variants include A2T, A2A, and A3T.
Variant analysis overview
- Gene: BUB1B
- Protein: O60566
- UniProt accession: O60566
- Organism: Homo sapiens
- Variants analyzed: 1704
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 1,585 unspecified-consequence records; 46 missense variants; 51 synonymous variants; 7 frameshift variants; 7 stop-gained variants; 3 splice-region variants; 2 in-frame deletions; 2 protein altering variant; 1 substitution
- Prediction scores: 1,176 variants have prediction scores (69% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: mosaic variegated aneuploidy syndrome, mosaic variegated aneuploidy syndrome 1, premature chromatid separation trait, neurodegenerative disease, colorectal cancer, hereditary disease, prostate carcinoma, colon carcinoma, breast ductal adenocarcinoma, gastric carcinoma, carcinoma of liver and intrahepatic biliary tract, skin squamous cell carcinoma.
Protein structure and variant hotspots
- Protein features: 2 domains; 2 binding sites; 12 post-translational modification sites.
- Structural context: 725 variants have structural context.
- PTM context: 20 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable BUB1B variants
Examples include A2T, A2A, A3T, A3V, A3A, V4G, V4M, V4E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2T (p.Ala2Thr), gnomAD 15-40161224-G-A, REVEL 0.08, CADD 24.20
- A2A (p.Ala2Ala), gnomAD 15-40161226-G-A, CADD 13.90
- A3T (p.Ala3Thr), rs752991610, ClinGen CA7475312, ClinVar RCV002419172, ExAC rs752991610, REVEL 0.05, MetaLR 0.03, Uncertain significance, Inborn genetic diseases
- A3V (p.Ala3Val), rs1276841522, ClinGen CA391676456, ClinVar RCV002376343, TOPMed rs1276841522, REVEL 0.04, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- A3A (p.Ala3Ala), rs7168394, gnomAD 15-40161229-G-T, CADD 9.02
- V4G (p.Val4Gly), Ensembl rs1595506262
- V4M (p.Val4Met), rs147549987, ClinGen CA157741, ClinVar RCV000120414, ClinVar RCV000475422, REVEL 0.08, MetaLR 0.01, Likely benign, Inborn genetic diseases; not specified; not provided
- V4E (p.Val4Glu), gnomAD 15-40161231-T-A, REVEL 0.00, CADD 13.00
- K5K (p.Lys5Lys), rs374433718, gnomAD 15-40161235-G-A, CADD 11.60
- K6E (p.Lys6Glu), gnomAD 15-40161236-A-G, REVEL 0.06, CADD 20.70
- E7D (p.Glu7Asp), rs1819687564, ClinGen CA391676485, ClinVar RCV001938682, ClinVar RCV002425268, REVEL 0.01, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- E7G (p.Glu7Gly), Ensembl rs1595506272
- E7K (p.Glu7Lys), rs1218056057, ClinGen CA391676478, ClinVar RCV002233060, ClinVar RCV004601233, REVEL 0.02, MetaLR 0.02, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- E7E (p.Glu7Glu), rs1819687564, gnomAD 15-40161241-A-G, CADD 11.40
- G8A (p.Gly8Ala), rs554782320, ClinGen CA7475315, ClinVar RCV002242256, ClinVar RCV002447349, REVEL 0.02, MetaLR 0.02, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- G8R (p.Gly8Arg), rs2037039568, NCI-TCGA TCGA novel, TOPMed rs2037039568, ClinGen CA391676488, REVEL 0.06, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- G8V (p.Gly8Val), rs554782320, ClinGen CA7475316, ClinVar RCV002430670, ClinVar RCV006471228, REVEL 0.06, MetaLR 0.02, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- G8W (p.Gly8Trp), rs2037039568, ClinGen CA391676487, ClinVar RCV003029255, ClinVar RCV005535494, REVEL 0.07, MetaLR 0.03, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- G8E (p.Gly8Glu), gnomAD 15-40161243-G-A, REVEL 0.05, CADD 6.34
- G8G (p.Gly8Gly), rs574718417, gnomAD 15-40161244-G-A, CADD 8.37
- G9A (p.Gly9Ala), rs768279736, ClinGen CA7475318, ClinVar RCV002233660, ClinVar RCV003163227, AlphaMissense 0.06, MetaLR 0.03, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- G9D (p.Gly9Asp), rs768279736, ClinGen CA391676493, ClinVar RCV003843589, ClinVar RCV005311083, AlphaMissense 0.06, MetaLR 0.03, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- G9S (p.Gly9Ser), rs2542503257, ClinGen CA391676490, ClinVar RCV004508248, Uncertain significance, Inborn genetic diseases
- G9V (p.Gly9Val), rs768279736, NCI-TCGA TCGA novel, ClinGen CA391676494, cosmic curated COSV10584, AlphaMissense 0.06, MetaLR 0.03, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- G9C (p.Gly9Cys), gnomAD 15-40161245-G-T, REVEL 0.08, CADD 18.90
- A10D (p.Ala10Asp), TOPMed rs1160797735, gnomAD rs1160797735, REVEL 0.10, AlphaMissense 0.10, Uncertain significance, Inborn genetic diseases
- A10S (p.Ala10Ser), TOPMed rs1379043354, gnomAD rs1379043354, REVEL 0.06, MetaLR 0.02
- A10V (p.Ala10Val), rs1160797735, ClinGen CA391676500, ClinVar RCV003828554, AlphaMissense 0.10, MetaLR 0.03, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- A10T (p.Ala10Thr), gnomAD 15-40161248-G-A, REVEL 0.04, CADD 16.30
- L11P (p.Leu11Pro), ExAC rs747863124, TOPMed rs747863124, gnomAD rs747863124, REVEL 0.04, AlphaMissense 0.06, Conflicting interpretations, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- L11Q (p.Leu11Gln), ExAC rs747863124, TOPMed rs747863124, gnomAD rs747863124, REVEL 0.05, AlphaMissense 0.06, Uncertain significance, Inborn genetic diseases
- L11R (p.Leu11Arg), rs747863124, ClinGen CA391676503, ClinVar RCV002574087, AlphaMissense 0.06, MetaLR 0.02, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- L11V (p.Leu11Val), ExAC rs776214483, gnomAD rs776214483, REVEL 0.01, MetaLR 0.02
- L11L (p.Leu11Leu), rs776214483, gnomAD 15-40161251-C-T, CADD 8.53
- E13K (p.Glu13Lys), gnomAD rs1440436210, REVEL 0.06, MetaLR 0.02
- E13E (p.Glu13Glu), rs1324135738, gnomAD 15-40165056-A-G, CADD 10.60
- A14V (p.Ala14Val), NCI-TCGA Cosmic COSV5501, cosmic curated COSV55014, Variant assessed as somatic; moderate impact.
- A14A (p.Ala14Ala), rs915253836, gnomAD 15-40165059-C-T, CADD 13.70
- M15I (p.Met15Ile), rs1402555575, ClinGen CA391676886, ClinVar RCV002342368, ClinVar RCV003094779, REVEL 0.10, MetaLR 0.04, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- M15T (p.Met15Thr), rs1392369693, ClinGen CA391676881, ClinVar RCV001244388, ClinVar RCV002327592, REVEL 0.17, MetaLR 0.02, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- M15V (p.Met15Val), ExAC rs769542191, TOPMed rs769542191, gnomAD rs769542191, REVEL 0.13, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- S16C (p.Ser16Cys), rs1364339094, ClinGen CA391676894, ClinVar RCV002337863, REVEL 0.07, AlphaMissense 0.12, Uncertain significance, Inborn genetic diseases
- S16F (p.Ser16Phe), rs1364339094, ClinGen CA391676896, cosmic curated COSV55010, ClinVar RCV001067637, REVEL 0.04, AlphaMissense 0.12, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- S16Y (p.Ser16Tyr), rs1364339094, ClinGen CA391676892, ClinVar RCV004508281, AlphaMissense 0.12, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- S16S (p.Ser16Ser), rs1369704386, gnomAD 15-40165065-C-T, CADD 3.62
- L17R (p.Leu17Arg), rs753928720, gnomAD 15-40165066-CT-C, CADD 29.60
- L17V (p.Leu17Val), gnomAD 15-40165066-C-G, REVEL 0.15, CADD 12.30
- E18A (p.Glu18Ala), Ensembl rs1566814475
- E18D (p.Glu18Asp), rs777141944, ClinGen CA268764641, ClinVar RCV002242211, ClinVar RCV003169610, REVEL 0.10, MetaLR 0.02, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- E18K (p.Glu18Lys), TOPMed rs2037079729, gnomAD rs2037079729, REVEL 0.15, MetaLR 0.05, Uncertain significance, Inborn genetic diseases
- E18E (p.Glu18Glu), rs777141944, gnomAD 15-40165071-G-A, CADD 8.53
- G19R (p.Gly19Arg), gnomAD 15-40165072-G-A, REVEL 0.17, CADD 28.20
- D20N (p.Asp20Asn), ExAC rs748869091, gnomAD rs748869091, REVEL 0.05, MetaLR 0.03
- D20V (p.Asp20Val), gnomAD rs2037079879, REVEL 0.21, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- D20D (p.Asp20Asp), rs770968419, gnomAD 15-40165077-T-C, CADD 11.30
- E21K (p.Glu21Lys), rs201360106, ClinGen CA268764649, ClinVar RCV003196556, Ensembl rs201360106, REVEL 0.42, MetaLR 0.14, Uncertain significance, Inborn genetic diseases
- E21E (p.Glu21Glu), rs2037079994, gnomAD 15-40165080-A-G, CADD 12.80
- E23D (p.Glu23Asp), rs2037080053, ClinGen CA391676972, ClinVar RCV002378216, REVEL 0.32, MetaLR 0.17, Uncertain significance, Inborn genetic diseases
- E23V (p.Glu23Val), rs999773545, ClinGen CA268764652, ClinVar RCV002362314, TOPMed rs999773545, REVEL 0.74, MetaLR 0.21, Uncertain significance, Inborn genetic diseases
- L24Q (p.Leu24Gln), TOPMed rs1454979829
- L24V (p.Leu24Val), cosmic curated COSV55016, ExAC rs774391455, gnomAD rs774391455, REVEL 0.17, MetaLR 0.09
- L24L (p.Leu24Leu), gnomAD 15-40165087-C-T, CADD 11.90
- S25N (p.Ser25Asn), rs759550625, ClinGen CA7475348, ClinVar RCV003618133, ClinVar RCV005013069, REVEL 0.17, MetaLR 0.13, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid
- S25T (p.Ser25Thr), gnomAD 15-40165091-G-C, REVEL 0.20, CADD 26.30
- S25S (p.Ser25Ser), rs1250775148, gnomAD 15-40165092-T-C, CADD 12.80
- K26I (p.Lys26Ile), rs2542508584, ClinGen CA391676998, ClinVar RCV003341681, Uncertain significance, Inborn genetic diseases
- K26Q (p.Lys26Gln), gnomAD 15-40165093-A-C, REVEL 0.46, CADD 26.90
- E27* (p.Glu27Ter), NCI-TCGA Cosmic COSV5501, Variant assessed as somatic; high impact.
- E27E (p.Glu27Glu), gnomAD 15-40165098-A-G, CADD 11.50
- N28S (p.Asn28Ser), gnomAD rs1458893678, REVEL 0.55, MetaLR 0.50
- N28N (p.Asn28Asn), gnomAD 15-40165101-T-C, CADD 7.34
- V29A (p.Val29Ala), rs771937088, ClinGen CA7475349, ClinVar RCV002747283, ExAC rs771937088, REVEL 0.25, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- V29E (p.Val29Glu), NCI-TCGA Cosmic COSV5501, cosmic curated COSV55011, Variant assessed as somatic; moderate impact.
- V29I (p.Val29Ile), gnomAD 15-40165102-G-A, REVEL 0.07, CADD 21.60
- Q30* (p.Gln30Ter), gnomAD 15-40165105-C-T, CADD 37.00
- Q30R (p.Gln30Arg), gnomAD 15-40165106-A-G, REVEL 0.19, CADD 24.00
- Q30Q (p.Gln30Gln), rs572125140, gnomAD 15-40165107-A-G, CADD 6.94
- P31L (p.Pro31Leu), TOPMed rs1417220294, gnomAD rs1417220294, REVEL 0.55, AlphaMissense 0.73, Uncertain significance
- P31R (p.Pro31Arg), rs1417220294, ClinGen CA391677057, ClinVar RCV002371520, TOPMed rs1417220294, AlphaMissense 0.73, MetaLR 0.26, Uncertain significance, Inborn genetic diseases
- P31S (p.Pro31Ser), rs2542508620, ClinGen CA391677054, ClinVar RCV002450054, Uncertain significance, Inborn genetic diseases
- L32F (p.Leu32Phe), rs2542508646, ClinGen CA391677067, ClinVar RCV002376627, Uncertain significance, Inborn genetic diseases
- L32* (p.Leu32Ter), gnomAD 15-40165112-T-A, CADD 37.00
- Q34R (p.Gln34Arg), rs2542508660, ClinGen CA391677086, ClinVar RCV003301883, Uncertain significance, Inborn genetic diseases
- Q34* (p.Gln34Ter), gnomAD 15-40165117-C-T, CADD 41.00
- G35A (p.Gly35Ala), rs2140878494, ClinGen CA391677101, ClinVar RCV002401150, AlphaMissense 0.94, MetaLR 0.70, Uncertain significance, Inborn genetic diseases
- G35E (p.Gly35Glu), rs2140878494, ClinGen CA391677099, ClinVar RCV001759088, ClinVar RCV004601527, AlphaMissense 0.94, MetaLR 0.70, Uncertain significance, not provided; Inborn genetic diseases
- G35R (p.Gly35Arg), TOPMed rs2037080369, REVEL 0.90, MetaLR 0.70, Uncertain significance, Inborn genetic diseases
- G35G (p.Gly35Gly), gnomAD 15-40165122-G-A, CADD 6.39
- R36Q (p.Arg36Gln), rs534297115, ClinGen CA7475352, ClinVar RCV001884665, UniProt VAR 028921, REVEL 0.73, MetaLR 0.30, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- R36W (p.Arg36Trp), rs760805647, ClinGen CA7475351, ClinVar RCV002410992, ClinVar RCV003507449, REVEL 0.62, MetaLR 0.27, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- I37N (p.Ile37Asn), ExAC rs753844539, TOPMed rs753844539, gnomAD rs753844539, REVEL 0.05, MetaLR 0.02, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- M38I (p.Met38Ile), rs2140878505, ClinGen CA391677132, ClinVar RCV001987091, Ensembl rs2140878505, AlphaMissense 0.48, MetaLR 0.03, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- M38T (p.Met38Thr), rs2542508695, ClinGen CA391677128, ClinVar RCV002451928, Uncertain significance, Inborn genetic diseases
- M38V (p.Met38Val), rs2542508692, ClinGen CA391677123, ClinVar RCV004508181, REVEL 0.03, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- S39Y (p.Ser39Tyr), gnomAD 15-40165133-C-A, REVEL 0.29, CADD 26.00
- T40A (p.Thr40Ala), rs902578942, ClinGen CA268764737, cosmic curated COSV10637, ClinVar RCV002342806, AlphaMissense 0.07, MetaLR 0.03, Uncertain significance, Inborn genetic diseases
- T40M (p.Thr40Met), rs56079734, ClinGen CA157765, cosmic curated COSV10459, ClinVar RCV000007150, REVEL 0.12, MetaLR 0.01, Benign/Likely benign, Mosaic variegated aneuploidy syndrome 1; Colorectal cancer; Premature chromatid
- T40T (p.Thr40Thr), rs960840123, gnomAD 15-40165137-G-T, CADD 5.27
- L41P (p.Leu41Pro), gnomAD 15-40165139-T-C, REVEL 0.73, CADD 28.50
- Q42H (p.Gln42His), gnomAD rs1402691715, REVEL 0.10, MetaLR 0.05
- Q42R (p.Gln42Arg), rs368079817, ClinGen CA268764759, ClinVar RCV002242403, ESP rs368079817, REVEL 0.11, MetaLR 0.10, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- G43E (p.Gly43Glu), rs2542508732, ClinGen CA391677177, ClinVar RCV003618292, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- G43V (p.Gly43Val), gnomAD 15-40165145-G-T, REVEL 0.06, CADD 24.80
- A44G (p.Ala44Gly), rs747374746, ClinGen CA268764765, ClinVar RCV003339068, Ensembl rs747374746, REVEL 0.11, MetaLR 0.08, Uncertain significance, Inborn genetic diseases
- A44T (p.Ala44Thr), rs2542508739, ClinGen CA391677185, ClinVar RCV002385413, Uncertain significance, Inborn genetic diseases
- A44A (p.Ala44Ala), rs371958222, gnomAD 15-40165149-A-G, CADD 7.34
- L45P (p.Leu45Pro), ExAC rs765327985, TOPMed rs765327985, gnomAD rs765327985, REVEL 0.56, MetaLR 0.18
- L45Q (p.Leu45Gln), ExAC rs765327985, TOPMed rs765327985, gnomAD rs765327985
- L45V (p.Leu45Val), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- A46G (p.Ala46Gly), rs889926604, ClinGen CA268764819, ClinVar RCV001986273, TOPMed rs889926604, REVEL 0.09, MetaLR 0.09, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- A46T (p.Ala46Thr), rs750858057, ClinGen CA7475355, ClinVar RCV002235565, ClinVar RCV002381865, REVEL 0.10, MetaLR 0.04, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- A46V (p.Ala46Val), gnomAD 15-40165154-C-T, REVEL 0.10, CADD 25.40
- A46A (p.Ala46Ala), rs758916538, gnomAD 15-40165155-A-G, CADD 9.69
- Q47K (p.Gln47Lys), rs2542508769, ClinGen CA391677203, ClinVar RCV003618242, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- Q47L (p.Gln47Leu), rs2037080856, ClinGen CA391677209, ClinVar RCV002389456, TOPMed rs2037080856, REVEL 0.22, MetaLR 0.09, Uncertain significance, Inborn genetic diseases
- Q47P (p.Gln47Pro), rs2037080856, ClinGen CA391677207, ClinVar RCV002389451, ClinVar RCV003095110, REVEL 0.23, MetaLR 0.09, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Q47R (p.Gln47Arg), rs2037080856, ClinGen CA391677208, ClinVar RCV004429396, REVEL 0.11, MetaLR 0.11, Uncertain significance, Inborn genetic diseases
- Q47E (p.Gln47Glu), gnomAD 15-40165156-C-G, REVEL 0.15, CADD 24.30
- E48K (p.Glu48Lys), cosmic curated COSV10728, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S49F (p.Ser49Phe), rs780380816, ClinGen CA7475357, ClinVar RCV002396906, ExAC rs780380816, REVEL 0.12, MetaLR 0.06, Uncertain significance, Inborn genetic diseases
- S49P (p.Ser49Pro), gnomAD 15-40165162-T-C, REVEL 0.06, CADD 23.10
- S49S (p.Ser49Ser), rs1294460668, gnomAD 15-40165164-T-C, CADD 12.00
- A50S (p.Ala50Ser), rs1355489592, ClinGen CA391677238, ClinVar RCV002389671, ClinVar RCV006470053, REVEL 0.09, MetaLR 0.02, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- A50V (p.Ala50Val), TOPMed rs2037081003
- C51R (p.Cys51Arg), rs375885859, ClinGen CA268764849, ClinVar RCV003238578, ESP rs375885859, AlphaMissense 0.09, MetaLR 0.02, Uncertain significance, not provided
- C51C (p.Cys51Cys), gnomAD 15-40165170-T-C, CADD 7.25
- N52D (p.Asn52Asp), Ensembl rs1271543867, REVEL 0.04, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- N52S (p.Asn52Ser), rs2542508810, ClinGen CA391677260, ClinVar RCV004508205, REVEL 0.04, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- N52N (p.Asn52Asn), rs1214786359, gnomAD 15-40165173-C-T, CADD 11.20
- N53D (p.Asn53Asp), gnomAD rs2037081144, REVEL 0.09, MetaLR 0.02, Uncertain significance, Inborn genetic diseases
- N53S (p.Asn53Ser), gnomAD 15-40165175-A-G, REVEL 0.12, CADD 12.90
- N53N (p.Asn53Asn), rs752026018, gnomAD 15-40165176-T-C, CADD 5.41
- T54I (p.Thr54Ile), rs755690280, ClinGen CA391677301, ClinVar RCV003214104, ExAC rs755690280, REVEL 0.04, MetaLR 0.04, Uncertain significance, Inborn genetic diseases
- T54S (p.Thr54Ser), ExAC rs755690280, TOPMed rs755690280, Uncertain significance
- T54T (p.Thr54Thr), gnomAD 15-40165179-T-G, CADD 10.70
- L55P (p.Leu55Pro), rs1221553263, ClinGen CA391677306, ClinVar RCV001870938, ClinVar RCV005792181, AlphaMissense 0.41, MetaLR 0.44, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- L55R (p.Leu55Arg), TOPMed rs1221553263, REVEL 0.39, AlphaMissense 0.41, Uncertain significance
- L55V (p.Leu55Val), rs2037081264, ClinGen CA391677304, NCI-TCGA Cosmic COSV5501, cosmic curated COSV55010, AlphaMissense 0.09, MetaLR 0.17, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- L55L (p.Leu55Leu), rs1007097048, gnomAD 15-40165182-T-C, CADD 9.39
- Q56K (p.Gln56Lys), Ensembl rs1017567589, REVEL 0.16, MetaLR 0.30, Uncertain significance, Inborn genetic diseases
- Q56* (p.Gln56Ter), gnomAD 15-40165183-C-T, CADD 44.00
- Q57* (p.Gln57Ter), rs2140878554, ClinGen CA391677323, ClinVar RCV001881383, Ensembl rs2140878554, Pathogenic
- Q57H (p.Gln57His), rs777530306, ClinGen CA391677330, ClinVar RCV003617623, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- Q57Q (p.Gln57Gln), rs777530306, gnomAD 15-40165188-G-A, CADD 8.95
- Q58K (p.Gln58Lys), rs1308870659, ClinGen CA391677334, ClinVar RCV001962458, ClinVar RCV002397957, REVEL 0.13, MetaLR 0.14, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- Q58R (p.Gln58Arg), rs2542508865, ClinGen CA391677341, ClinVar RCV002399303, Uncertain significance, Inborn genetic diseases
- Q58Q (p.Gln58Gln), rs1204846290, gnomAD 15-40165191-G-A, CADD 10.90
- K59K (p.Lys59Lys), gnomAD 15-40165194-A-G, CADD 17.20
- R60=, NCI-TCGA TCGA novel, Variant assessed as somatic; low impact.
- R60G (p.Arg60Gly), rs748915007, ClinGen CA391677357, ClinVar RCV002241945, ClinVar RCV002412010, AlphaMissense 0.11, MetaLR 0.12, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- R60Q (p.Arg60Gln), rs770498351, ClinGen CA7475362, cosmic curated COSV55009, ClinVar RCV002284718, REVEL 0.08, MetaLR 0.07, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; not provided
- R60W (p.Arg60Trp), rs748915007, ClinGen CA7475361, ClinVar RCV002235095, ClinVar RCV005532776, REVEL 0.05, AlphaMissense 0.11, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- R60R (p.Arg60Arg), gnomAD 15-40170062-G-A, CADD 17.80
- A61T (p.Ala61Thr), rs2542515602, ClinGen CA391678352, ClinVar RCV004508213, Uncertain significance, Inborn genetic diseases
- A61V (p.Ala61Val), rs2542515605, ClinGen CA391678357, ClinVar RCV004508215, REVEL 0.17, MetaLR 0.18, Uncertain significance, Inborn genetic diseases
- A61S (p.Ala61Ser), gnomAD 15-40170063-G-T, REVEL 0.12, CADD 19.90
- F62L (p.Phe62Leu), rs779439053, ClinGen CA7475404, ClinVar RCV002918642, ClinVar RCV003167933, REVEL 0.56, MetaLR 0.44, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1; not specified
- E63* (p.Glu63Ter), ExAC rs746902649, TOPMed rs746902649, gnomAD rs746902649, CADD 42.00
- E63K (p.Glu63Lys), ExAC rs746902649, TOPMed rs746902649, gnomAD rs746902649, REVEL 0.73, MetaLR 0.60
- E63V (p.Glu63Val), rs2542515621, ClinGen CA391678369, ClinVar RCV003177231, Uncertain significance, Inborn genetic diseases
- I66I (p.Ile66Ile), rs2037144181, gnomAD 15-40170080-T-A, CADD 12.60
- R67* (p.Arg67Ter), rs200884355, ClinGen CA7475406, NCI-TCGA Cosmic COSV9980, cosmic curated COSV99807, CADD 37.00, Pathogenic
- R67Q (p.Arg67Gln), rs781034323, ClinGen CA7475407, NCI-TCGA Cosmic COSV5501, ClinVar RCV001935018, REVEL 0.33, MetaLR 0.34, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- F68C (p.Phe68Cys), rs2037144342, ClinGen CA391678418, ClinVar RCV001776426, gnomAD rs2037144342, REVEL 0.49, MetaLR 0.40, Uncertain significance, not provided
- F68L (p.Phe68Leu), gnomAD 15-40170084-T-C, REVEL 0.22, CADD 24.30
- Y69C (p.Tyr69Cys), rs2037144381, ClinGen CA391678429, ClinVar RCV002422091, TOPMed rs2037144381, REVEL 0.59, MetaLR 0.48, Uncertain significance, Inborn genetic diseases
- Y69Y (p.Tyr69Tyr), rs747976070, gnomAD 15-40170089-C-T, CADD 8.06
- T70I (p.Thr70Ile), rs769980774, ClinGen CA7475409, ClinVar RCV002240470, ClinVar RCV002416408, REVEL 0.11, MetaLR 0.23, Uncertain significance, Mosaic variegated aneuploidy syndrome 1; Inborn genetic diseases
- T70S (p.Thr70Ser), NCI-TCGA Cosmic COSV5501, cosmic curated COSV55011, Variant assessed as somatic; moderate impact.
- G71E (p.Gly71Glu), rs777922307, ClinGen CA7475410, ClinVar RCV002240981, ExAC rs777922307, REVEL 0.68, MetaLR 0.55, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- G71R (p.Gly71Arg), rs2037144496, ClinGen CA391678447, ClinVar RCV002239381, Ensembl rs2037144496, AlphaMissense 0.74, MetaLR 0.51, Uncertain significance, Mosaic variegated aneuploidy syndrome 1
- p.Gly71 Asn72del, gnomAD 15-40170091-CTGGA, CADD 20.70
- N72K (p.Asn72Lys), rs2542515674, ClinGen CA391678466, ClinVar RCV002417938, Uncertain significance, Inborn genetic diseases
- N72S (p.Asn72Ser), gnomAD 15-40170097-A-G, REVEL 0.15, CADD 18.30
- D73G (p.Asp73Gly), rs2140881461, ClinGen CA391678475, ClinVar RCV001961860, ClinVar RCV004040316, REVEL 0.96, MetaLR 0.72, Uncertain significance, Inborn genetic diseases; Mosaic variegated aneuploidy syndrome 1
- D73A (p.Asp73Ala), gnomAD 15-40170099-GA-G, CADD 29.50
- D73D (p.Asp73Asp), rs548540749, gnomAD 15-40170101-C-T, CADD 9.22
- P74R (p.Pro74Arg), Ensembl rs2140881468, Uncertain significance, Inborn genetic diseases
- P74L (p.Pro74Leu), gnomAD 15-40170100-AC-A, CADD 23.90
- P74T (p.Pro74Thr), gnomAD 15-40170102-C-A, REVEL 0.83, CADD 25.60
Public BUB1B analysis runs
- BUB1B analysis run — BUB1B (1,704 variants) — completed 2026-08-20