COL6A3 (Collagen alpha-3(VI) chain) variants and mutations
COL6A3 (also known as Collagen alpha-3(VI) chain) is a human protein-coding gene encoding a collagen alpha-3(VI) chain protein. It forms part of collagen VI microfibrils that organize the extracellular matrix around muscle fibers and many other cells. Pathogenic variants can cause Bethlem or Ullrich-spectrum collagen VI myopathy and, in some alleles, isolated dystonia. This analysis covers 4,738 COL6A3 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Congenital muscular dystrophy, Ullrich type, dystonia 27, and Bethlem myopathy. Example COL6A3 variants include M1?, R2K, and K3N.
Variant analysis overview
- Gene: COL6A3
- Protein: Collagen alpha-3(VI) chain
- UniProt accession: P12111
- Organism: Homo sapiens
- Variants analyzed: 4738
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 4,528 unspecified-consequence records; 92 synonymous variants; 99 missense variants; 4 splice-region variants; 4 stop-gained variants; 6 frameshift variants; 3 in-frame deletions; 1 in-frame insertions; 1 substitution
- Prediction scores: 4,176 variants have prediction scores (88% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Congenital muscular dystrophy, Ullrich type, dystonia 27, Bethlem myopathy, Bethlem myopathy 1C, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy, Ullrich congenital muscular dystrophy 1C, collagen 6-related myopathy, Dupuytren Contracture, Tip-toe gait, hereditary disease.
Protein structure and variant hotspots
- Protein features: 19 domains; 27 post-translational modification sites.
- Structural context: 3,867 variants have structural context.
- PTM context: 31 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 COL6A3 variants
Examples include M1?, R2K, K3N, H4L, H4R, H4Y, R5Q, R5W. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- R2K (p.Arg2Lys), ExAC rs756965450, TOPMed rs756965450, gnomAD rs756965450, REVEL 0.44, MetaLR 0.82
- K3N (p.Lys3Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- H4L (p.His4Leu), rs777465480, ClinGen CA10604184, ClinVar RCV000326714, ClinVar RCV001320936, REVEL 0.56, MetaLR 0.75, Conflicting interpretations, not provided; Bethlem myopathy 1A
- H4R (p.His4Arg), rs777465480, ClinGen CA2189974, ClinVar RCV002583712, ExAC rs777465480, REVEL 0.49, MetaLR 0.75, Likely benign, Bethlem myopathy 1A
- H4Y (p.His4Tyr), ExAC rs746495507, gnomAD rs746495507
- R5Q (p.Arg5Gln), rs765276422, ClinGen CA2189971, ClinVar RCV001137217, ClinVar RCV001371079, REVEL 0.50, AlphaMissense 0.07, Conflicting interpretations, Collagen 6-related myopathy; Bethlem myopathy 1A; not provided
- R5W (p.Arg5Trp), rs752738273, ClinGen CA2189972, ClinVar RCV001206186, ExAC rs752738273, REVEL 0.56, MetaLR 0.78, Likely benign, Bethlem myopathy 1A
- H6D (p.His6Asp), TOPMed rs1407822691
- H6Y (p.His6Tyr), TOPMed rs1407822691
- L7F (p.Leu7Phe), Ensembl rs2078452919, REVEL 0.37, MetaLR 0.85
- P8A (p.Pro8Ala), rs144189491, ClinGen CA2189970, ClinVar RCV003632507, ClinVar RCV005323543, REVEL 0.34, MetaLR 0.76, Conflicting interpretations, Inborn genetic diseases; Bethlem myopathy 1A
- P8L (p.Pro8Leu), ExAC rs753695671, gnomAD rs753695671, REVEL 0.56, MetaLR 0.74
- L9F (p.Leu9Phe), NCI-TCGA Cosmic COSV5509, cosmic curated COSV55090, Variant assessed as somatic; moderate impact.
- V10A (p.Val10Ala), rs766458324, ClinGen CA2189968, ClinVar RCV000732942, ClinVar RCV002535302, REVEL 0.37, MetaLR 0.54, Conflicting interpretations, not provided; Bethlem myopathy 1A
- A11T (p.Ala11Thr), TOPMed rs1327591330, gnomAD rs1327591330, REVEL 0.40, MetaLR 0.80
- A11V (p.Ala11Val), rs1418824605, ClinGen CA351229260, cosmic curated COSV55080, ClinVar RCV003060854, REVEL 0.38, MetaLR 0.82, Uncertain significance, Bethlem myopathy 1A
- V12F (p.Val12Phe), rs137910388, ClinGen CA10606358, ClinVar RCV000321460, 1000Genomes rs137910388, AlphaMissense 0.07, MetaLR 0.39, Uncertain significance, not provided
- V12I (p.Val12Ile), rs137910388, ClinGen CA233847, ClinVar RCV000153100, ClinVar RCV000379973, REVEL 0.15, AlphaMissense 0.07, Benign/Likely benign, Inborn genetic diseases; not specified; not provided
- V12L (p.Val12Leu), 1000Genomes rs137910388, ESP rs137910388, ExAC rs137910388, TOPMed rs137910388, Benign
- F13I (p.Phe13Ile), TOPMed rs2078452228, REVEL 0.15, MetaLR 0.44, Uncertain significance, Inborn genetic diseases
- C14F (p.Cys14Phe), Ensembl rs74894716
- F16I (p.Phe16Ile), rs2469981301, ClinGen CA351229233, ClinVar RCV004550576, Uncertain significance, COL6A3-related disorder
- L17F (p.Leu17Phe), NCI-TCGA Cosmic COSV5508, cosmic curated COSV55082, Variant assessed as somatic; moderate impact.
- S18L (p.Ser18Leu), rs2469981282, ClinGen CA351229216, ClinVar RCV003518222, REVEL 0.17, MetaLR 0.57, Uncertain significance, Bethlem myopathy 1A
- S18P (p.Ser18Pro), rs2469981289, ClinGen CA351229220, ClinVar RCV004552435, Uncertain significance, COL6A3-related disorder
- G19D (p.Gly19Asp), rs1181810990, ClinGen CA351229212, ClinVar RCV003074513, TOPMed rs1181810990, REVEL 0.45, AlphaMissense 0.50, Likely benign, Bethlem myopathy 1A
- F20I (p.Phe20Ile), rs1261167748, ClinGen CA351229209, ClinVar RCV003145821, gnomAD rs1261167748, REVEL 0.09, MetaLR 0.27, Uncertain significance, not provided
- T22A (p.Thr22Ala), rs774784273, ClinGen CA2189963, cosmic curated COSV55083, ClinVar RCV001364623, REVEL 0.20, MetaLR 0.34, Likely benign, Bethlem myopathy 1A
- T23I (p.Thr23Ile), gnomAD rs1314859774, REVEL 0.17, MetaLR 0.44
- T23S (p.Thr23Ser), NCI-TCGA TCGA novel, REVEL 0.16, MetaLR 0.59, Variant assessed as somatic; moderate impact.
- H24Y (p.His24Tyr), rs769211133, ClinGen CA2189962, ClinVar RCV003145847, ClinVar RCV005099392, REVEL 0.14, MetaLR 0.46, Conflicting interpretations, Bethlem myopathy 1A; not provided
- A25D (p.Ala25Asp), rs398124134, ClinGen CA222655, ClinVar RCV000080992, ClinVar RCV001854428, AlphaMissense 0.17, MetaLR 0.76, Uncertain significance, Bethlem myopathy 1A; not provided
- Q26* (p.Gln26Ter), rs763187844, ClinGen CA2189961, cosmic curated COSV55086, ClinVar RCV000543703, CADD 34.00, Pathogenic
- Q26P (p.Gln26Pro), rs1381568881, ClinGen CA351229170, ClinVar RCV003145836, AlphaMissense 0.09, MetaLR 0.77, Uncertain significance, not provided
- Q26R (p.Gln26Arg), rs1381568881, ClinGen CA351229169, ClinVar RCV001960175, gnomAD rs1381568881, REVEL 0.29, AlphaMissense 0.23, Uncertain significance, Bethlem myopathy 1A
- Q27R (p.Gln27Arg), rs1327330428, ClinGen CA351229157, ClinVar RCV003518214, TOPMed rs1327330428, AlphaMissense 0.09, MetaLR 0.49, Uncertain significance, Bethlem myopathy 1A
- Q29H (p.Gln29His), rs775946239, ClinGen CA351229108, cosmic curated COSV55115, ClinVar RCV001225508, REVEL 0.14, MetaLR 0.49, Uncertain significance, Bethlem myopathy 1A
- A30G (p.Ala30Gly), gnomAD rs371046481
- A30V (p.Ala30Val), gnomAD rs371046481, REVEL 0.14, MetaLR 0.51
- V32I (p.Val32Ile), gnomAD rs1431265386, REVEL 0.33, MetaLR 0.29
- K33R (p.Lys33Arg), rs781141962, ClinGen CA67842599, ClinVar RCV000802242, TOPMed rs781141962, REVEL 0.17, MetaLR 0.28, Uncertain significance, Bethlem myopathy 1A
- N34M (p.Asn34Met), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- N34S (p.Asn34Ser), ExAC rs747609310, gnomAD rs747609310, REVEL 0.12, MetaLR 0.28
- G35C (p.Gly35Cys), ExAC rs778530814, gnomAD rs778530814, REVEL 0.43, MetaLR 0.44, Uncertain significance, Bethlem myopathy 1A
- G35S (p.Gly35Ser), ExAC rs778530814, gnomAD rs778530814, REVEL 0.17, MetaLR 0.26
- A36E (p.Ala36Glu), 1000Genomes rs572020866, ExAC rs572020866, TOPMed rs572020866, gnomAD rs572020866, REVEL 0.33, MetaLR 0.29, Likely benign
- A36T (p.Ala36Thr), rs768451017, ClinGen CA2189936, ClinVar RCV004437518, ExAC rs768451017, REVEL 0.16, MetaLR 0.31, Uncertain significance, Inborn genetic diseases
- A36V (p.Ala36Val), rs572020866, ClinGen CA2189934, ClinVar RCV000401106, ClinVar RCV000653565, REVEL 0.17, MetaLR 0.27, Conflicting interpretations, not provided; Bethlem myopathy 1A
- A37S (p.Ala37Ser), NCI-TCGA Cosmic COSV9980, Variant assessed as somatic; moderate impact.
- A38S (p.Ala38Ser), TOPMed rs1224533621, gnomAD rs1224533621, REVEL 0.54, MetaLR 0.55
- A38T (p.Ala38Thr), TOPMed rs1224533621, gnomAD rs1224533621, REVEL 0.51, MetaLR 0.55
- D39G (p.Asp39Gly), rs2106388893, ClinGen CA351228403, ClinVar RCV002009787, Ensembl rs2106388893, AlphaMissense 0.79, MetaLR 0.93, Uncertain significance, Bethlem myopathy 1A
- D39N (p.Asp39Asn), NCI-TCGA TCGA novel, REVEL 0.82, MetaLR 0.89, Variant assessed as somatic; moderate impact.
- I40F (p.Ile40Phe), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- I40M (p.Ile40Met), rs1379366909, ClinGen CA351228395, ClinVar RCV003337829, TOPMed rs1379366909, REVEL 0.68, MetaLR 0.72, Uncertain significance, Bethlem myopathy 1A
- I40V (p.Ile40Val), rs370368996, ClinGen CA2189932, ClinVar RCV003632474, ESP rs370368996, REVEL 0.36, MetaLR 0.41, Likely benign, Bethlem myopathy 1A
- I41V (p.Ile41Val), TOPMed rs2078404467
- F42V (p.Phe42Val), rs1559280207, ClinGen CA351228385, ClinVar RCV000731485, ClinVar RCV003631155, AlphaMissense 0.39, MetaLR 0.71, Uncertain significance, not provided; Bethlem myopathy 1A
- L43P (p.Leu43Pro), rs2106388857, ClinGen CA351228376, ClinVar RCV003145826, ClinVar RCV005099388, REVEL 0.89, MetaLR 0.84, Uncertain significance, Bethlem myopathy 1A; not provided
- V44G (p.Val44Gly), ExAC rs757493766, gnomAD rs757493766, REVEL 0.88, MetaLR 0.72
- D45G (p.Asp45Gly), Ensembl rs774750201
- D45N (p.Asp45Asn), Ensembl rs2106388853, REVEL 0.86, MetaLR 0.97
- S46A (p.Ser46Ala), rs2469975271, ClinGen CA351228360, ClinVar RCV003631469, Uncertain significance, Bethlem myopathy 1A
- S46F (p.Ser46Phe), rs1345492472, gnomAD rs1345492472, REVEL 0.79, MetaLR 0.76, Uncertain significance, Inborn genetic diseases
- S47P (p.Ser47Pro), ExAC rs751569819, gnomAD rs751569819, REVEL 0.93, MetaLR 0.98, Uncertain significance, Bethlem myopathy 1A
- W48C (p.Trp48Cys), rs2469975213, ClinGen CA351228344, ClinVar RCV003631688, REVEL 0.73, MetaLR 0.59, Uncertain significance, Bethlem myopathy 1A
- T49A (p.Thr49Ala), NCI-TCGA Cosmic COSV5508, Ensembl rs1574756989, Variant assessed as somatic; moderate impact.
- T49I (p.Thr49Ile), 1000Genomes rs200025389, ExAC rs200025389, TOPMed rs200025389, gnomAD rs200025389, REVEL 0.21, MetaLR 0.31
- T49N (p.Thr49Asn), 1000Genomes rs200025389, ExAC rs200025389, TOPMed rs200025389, gnomAD rs200025389, REVEL 0.14, MetaLR 0.20
- E52K (p.Glu52Lys), rs188510971, ClinGen CA67842512, NCI-TCGA Cosmic COSV9980, ClinVar RCV001982017, REVEL 0.13, MetaLR 0.19, Uncertain significance, Bethlem myopathy 1A
- E53* (p.Glu53Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- E53A (p.Glu53Ala), TOPMed rs1212648396
- E53D (p.Glu53Asp), NCI-TCGA Cosmic COSV9980, Variant assessed as somatic; moderate impact.
- E53K (p.Glu53Lys), ExAC rs763355681, gnomAD rs763355681, REVEL 0.46, MetaLR 0.31
- H54R (p.His54Arg), rs938595503, ClinGen CA67842498, ClinVar RCV002613758, Ensembl rs938595503, REVEL 0.11, MetaLR 0.17, Conflicting interpretations, not provided; Bethlem myopathy 1A
- F55V (p.Phe55Val), rs753189030, ClinGen CA2189926, ClinVar RCV001317799, ExAC rs753189030, REVEL 0.93, MetaLR 0.85, Uncertain significance, Bethlem myopathy 1A
- Q56P (p.Gln56Pro), gnomAD rs1431568393, REVEL 0.22, MetaLR 0.33
- L57I (p.Leu57Ile), ExAC rs765665120, TOPMed rs765665120, gnomAD rs765665120, REVEL 0.48, MetaLR 0.55, Uncertain significance
- L57P (p.Leu57Pro), rs759937318, ClinGen CA351228286, ClinVar RCV003887359, ClinVar RCV005545151, REVEL 0.77, MetaLR 0.70, Uncertain significance, Inborn genetic diseases; not provided
- L57R (p.Leu57Arg), ExAC rs759937318, TOPMed rs759937318, gnomAD rs759937318, REVEL 0.60, MetaLR 0.35, Uncertain significance
- L57V (p.Leu57Val), rs765665120, ClinGen CA2189925, ClinVar RCV001888154, ExAC rs765665120, REVEL 0.55, MetaLR 0.63, Uncertain significance, Bethlem myopathy 1A
- V58L (p.Val58Leu), gnomAD rs2078401683, REVEL 0.47, MetaLR 0.47
- R59* (p.Arg59Ter), rs398124119, ClinGen CA222591, ClinVar RCV000080916, ClinVar RCV000280500, CADD 37.00, Pathogenic
- R59L (p.Arg59Leu), ExAC rs111577719, gnomAD rs111577719, REVEL 0.70, MetaLR 0.58, Uncertain significance
- R59Q (p.Arg59Gln), rs111577719, ClinGen CA2189923, NCI-TCGA Cosmic COSV5509, ClinVar RCV002651629, REVEL 0.69, MetaLR 0.42, Uncertain significance, Bethlem myopathy 1A
- E60D (p.Glu60Asp), NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; moderate impact.
- E60G (p.Glu60Gly), TOPMed rs1426094494
- F61* (p.Phe61Ter), rs1559280064, ClinGen CA540749888, ClinVar RCV002948521, TOPMed rs1559280064, CADD 33.00, Pathogenic
- F61S (p.Phe61Ser), rs375649083, ClinGen CA2189922, ClinVar RCV001342944, ESP rs375649083, AlphaMissense 0.88, MetaLR 0.83, Likely benign, Bethlem myopathy 1A
- L62I (p.Leu62Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Y63C (p.Tyr63Cys), rs886043105, ClinGen CA10605116, ClinVar RCV000333885, ClinVar RCV001299913, REVEL 0.28, MetaLR 0.41, Uncertain significance, not provided; Bethlem myopathy 1A
- D64A (p.Asp64Ala), rs768274647, ClinGen CA351228227, ClinVar RCV001224968, ExAC rs768274647, AlphaMissense 0.17, MetaLR 0.38, Uncertain significance, Bethlem myopathy 1A
- D64G (p.Asp64Gly), ExAC rs768274647, gnomAD rs768274647, REVEL 0.68, AlphaMissense 0.17, Uncertain significance
- V65A (p.Val65Ala), rs1184389502, ClinGen CA351228208, ClinVar RCV003145822, TOPMed rs1184389502, REVEL 0.76, MetaLR 0.63, Uncertain significance, not provided
- V65I (p.Val65Ile), TOPMed rs2078400543
- V66A (p.Val66Ala), Ensembl rs113347765, REVEL 0.42, MetaLR 0.47
- K67I (p.Lys67Ile), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- S68A (p.Ser68Ala), rs372628119, ClinGen CA2189918, ClinVar RCV003632936, ESP rs372628119, REVEL 0.11, MetaLR 0.20, Uncertain significance, Bethlem myopathy 1A
- S68C (p.Ser68Cys), TOPMed rs1298312498
- S68F (p.Ser68Phe), NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; moderate impact.
- A70V (p.Ala70Val), TOPMed rs1361842649, REVEL 0.26, MetaLR 0.24
- V71A (p.Val71Ala), rs2469974815, ClinGen CA351228115, ClinVar RCV003143322, REVEL 0.49, MetaLR 0.43, Uncertain significance, not provided
- V71M (p.Val71Met), rs1202531106, ClinGen CA351228121, ClinVar RCV003036684, gnomAD rs1202531106, REVEL 0.64, MetaLR 0.66, Likely benign, Bethlem myopathy 1A
- G72R (p.Gly72Arg), NCI-TCGA Cosmic COSV5509, REVEL 0.75, MetaLR 0.72, Variant assessed as somatic; moderate impact.
- E73* (p.Glu73Ter), rs775433277, ClinGen CA351228091, ClinVar RCV003632206, CADD 35.00, Pathogenic
- E73G (p.Glu73Gly), rs138570455, ClinGen CA2189916, ClinVar RCV000706202, ESP rs138570455, REVEL 0.17, MetaLR 0.34, Uncertain significance, Bethlem myopathy 1A
- E73K (p.Glu73Lys), ExAC rs775433277, gnomAD rs775433277, REVEL 0.28, MetaLR 0.38
- E73V (p.Glu73Val), ESP rs138570455, ExAC rs138570455, gnomAD rs138570455, Uncertain significance
- N74D (p.Asn74Asp), gnomAD rs1241538370, REVEL 0.17, MetaLR 0.21
- N74S (p.Asn74Ser), TOPMed rs1402529620
- D75N (p.Asp75Asn), NCI-TCGA Cosmic COSV5510, Variant assessed as somatic; moderate impact.
- D75V (p.Asp75Val), TOPMed rs2078399580
- F76C (p.Phe76Cys), ExAC rs745613998, TOPMed rs745613998, gnomAD rs745613998, REVEL 0.69, MetaLR 0.48
- F76S (p.Phe76Ser), ExAC rs745613998, TOPMed rs745613998, gnomAD rs745613998, REVEL 0.63, MetaLR 0.30
- H77N (p.His77Asn), Ensembl rs1559279969
- H77R (p.His77Arg), gnomAD rs2078399264, REVEL 0.16, MetaLR 0.12
- A79S (p.Ala79Ser), Ensembl rs1263940729, REVEL 0.47, MetaLR 0.48
- A79V (p.Ala79Val), ExAC rs757465277, gnomAD rs757465277, REVEL 0.80, MetaLR 0.70
- L80V (p.Leu80Val), rs777869450, ClinGen CA2189911, ClinVar RCV001955430, ExAC rs777869450, REVEL 0.36, MetaLR 0.21, Uncertain significance, Bethlem myopathy 1A; Inborn genetic diseases
- V81G (p.Val81Gly), Ensembl rs956331512
- Q82R (p.Gln82Arg), rs2078398652, ClinGen CA351227941, ClinVar RCV003518427, TOPMed rs2078398652, AlphaMissense 0.10, MetaLR 0.43, Uncertain significance, Bethlem myopathy 1A
- N84D (p.Asn84Asp), Ensembl rs112765805
- N84S (p.Asn84Ser), rs752748927, ClinGen CA2189909, ClinVar RCV002854169, ClinVar RCV003143549, REVEL 0.12, MetaLR 0.07, Conflicting interpretations, Inborn genetic diseases; Bethlem myopathy 1A; not provided
- G85E (p.Gly85Glu), rs369814614, ClinGen CA2189906, ClinVar RCV001215986, ClinVar RCV001751402, REVEL 0.52, MetaLR 0.37, Conflicting interpretations, not provided; Inborn genetic diseases; Bethlem myopathy 1A
- G85R (p.Gly85Arg), rs755587601, ClinGen CA2189907, NCI-TCGA Cosmic COSV5508, ClinVar RCV000799815, REVEL 0.46, MetaLR 0.31, Conflicting interpretations, not provided; Inborn genetic diseases; Bethlem myopathy 1A
- G85V (p.Gly85Val), NCI-TCGA Cosmic COSV9979, Variant assessed as somatic; moderate impact.
- P87R (p.Pro87Arg), rs200887514, ClinGen CA2189904, ClinVar RCV000795081, ClinVar RCV005630817, REVEL 0.72, MetaLR 0.66, Uncertain significance, Inborn genetic diseases; Bethlem myopathy 1A; not provided
- H88L (p.His88Leu), ExAC rs763661502, gnomAD rs763661502, REVEL 0.55, MetaLR 0.46
- H88N (p.His88Asn), ExAC rs773999183, TOPMed rs773999183, gnomAD rs773999183, Likely benign
- H88Q (p.His88Gln), rs1182430977, ClinGen CA351227824, ClinVar RCV003145849, TOPMed rs1182430977, AlphaMissense 0.11, MetaLR 0.34, Uncertain significance, not provided
- H88R (p.His88Arg), ExAC rs763661502, gnomAD rs763661502, REVEL 0.27, MetaLR 0.28
- H88Y (p.His88Tyr), rs773999183, ClinGen CA2189903, ClinVar RCV000814642, ExAC rs773999183, REVEL 0.63, MetaLR 0.46, Likely benign, Bethlem myopathy 1A
- T89I (p.Thr89Ile), Ensembl rs2078397519
- E90* (p.Glu90Ter), NCI-TCGA Cosmic COSV5509, NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; high impact.
- E90K (p.Glu90Lys), gnomAD rs2078397365, REVEL 0.76, MetaLR 0.79
- E90V (p.Glu90Val), rs2078397283, ClinGen CA351227811, ClinVar RCV001196660, Ensembl rs2078397283, AlphaMissense 0.35, MetaLR 0.61, Uncertain significance, Ullrich congenital muscular dystrophy 1A
- F91Y (p.Phe91Tyr), rs1439031765, TOPMed rs1439031765, AlphaMissense 0.44, MetaLR 0.75, Variant assessed as somatic; moderate impact.
- L92P (p.Leu92Pro), rs774887457, ClinGen CA2189900, ClinVar RCV002947776, ExAC rs774887457, REVEL 0.53, MetaLR 0.31, Uncertain significance, Bethlem myopathy 1A
- N94K (p.Asn94Lys), Ensembl rs2106388545, REVEL 0.61, MetaLR 0.44
- N94S (p.Asn94Ser), NCI-TCGA Cosmic COSV5508, Variant assessed as somatic; moderate impact.
- T95K (p.Thr95Lys), ExAC rs769697782, TOPMed rs769697782, gnomAD rs769697782, Uncertain significance, Bethlem myopathy 1A
- T95M (p.Thr95Met), rs769697782, ClinGen CA2189899, ClinVar RCV000309154, ClinVar RCV001365391, REVEL 0.63, MetaLR 0.60, Conflicting interpretations, not provided; Bethlem myopathy 1A
- Y96C (p.Tyr96Cys), TOPMed rs2078396633, REVEL 0.85, MetaLR 0.66
- R97C (p.Arg97Cys), rs144651558, ClinGen CA2189897, ClinVar RCV000812051, ClinVar RCV005432443, REVEL 0.38, MetaLR 0.53, Conflicting interpretations, not specified; not provided; Bethlem myopathy 1A
- R97G (p.Arg97Gly), ESP rs144651558, ExAC rs144651558, TOPMed rs144651558, gnomAD rs144651558, REVEL 0.16, MetaLR 0.29, Benign
- R97H (p.Arg97His), rs201249839, ClinGen CA2189895, ClinVar RCV000295547, ClinVar RCV000808592, REVEL 0.11, MetaLR 0.22, Conflicting interpretations, Bethlem myopathy 1A; not provided; Inborn genetic diseases
- R97S (p.Arg97Ser), ESP rs144651558, ExAC rs144651558, TOPMed rs144651558, gnomAD rs144651558, REVEL 0.16, MetaLR 0.23, Benign
- T98A (p.Thr98Ala), rs76646066, ClinGen CA67842257, ClinVar RCV002995949, 1000Genomes rs76646066, REVEL 0.14, MetaLR 0.27, Uncertain significance, Bethlem myopathy 1A
- T98P (p.Thr98Pro), 1000Genomes rs76646066, ExAC rs76646066, TOPMed rs76646066, gnomAD rs76646066, REVEL 0.50, MetaLR 0.49, Benign
- T98S (p.Thr98Ser), rs76646066, ClinGen CA233844, ClinVar RCV000153099, ClinVar RCV000381279, REVEL 0.10, MetaLR 0.09, Benign
- K99E (p.Lys99Glu), rs1451925840, ClinGen CA351227690, ClinVar RCV003849654, TOPMed rs1451925840, REVEL 0.39, MetaLR 0.49, Likely benign, Bethlem myopathy 1A
- Q100K (p.Gln100Lys), NCI-TCGA TCGA novel, REVEL 0.33, MetaLR 0.43, Variant assessed as somatic; high impact.
- Q100R (p.Gln100Arg), TOPMed rs2078396010
- E101Q (p.Glu101Gln), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V102D (p.Val102Asp), gnomAD rs1382691549, REVEL 0.90, MetaLR 0.72
- V102F (p.Val102Phe), ExAC rs758569165, gnomAD rs758569165
- V102G (p.Val102Gly), NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; moderate impact.
- V102I (p.Val102Ile), ExAC rs758569165, gnomAD rs758569165, REVEL 0.29, MetaLR 0.40
- L103F (p.Leu103Phe), Ensembl rs777645044, REVEL 0.69, MetaLR 0.61
- N108D (p.Asn108Asp), rs2078395425, ClinGen CA351227536, ClinVar RCV001343769, ClinVar RCV005642516, REVEL 0.37, MetaLR 0.42, Uncertain significance, not provided; Bethlem myopathy 1A
- N108S (p.Asn108Ser), rs1312180883, ClinGen CA351227529, ClinVar RCV004437529, TOPMed rs1312180883, AlphaMissense 0.08, MetaLR 0.31, Uncertain significance, Inborn genetic diseases
- M109I (p.Met109Ile), ExAC rs748233523, TOPMed rs748233523, gnomAD rs748233523, REVEL 0.18, MetaLR 0.19
- M109T (p.Met109Thr), rs2469974061, ClinGen CA351227514, ClinVar RCV003304634, REVEL 0.76, MetaLR 0.38, Uncertain significance, Inborn genetic diseases
- I112F (p.Ile112Phe), gnomAD rs1156610137, REVEL 0.16, MetaLR 0.26
- I112T (p.Ile112Thr), ESP rs375590099, ExAC rs375590099, gnomAD rs375590099, REVEL 0.21, MetaLR 0.26
- I112V (p.Ile112Val), gnomAD rs1156610137, REVEL 0.15, MetaLR 0.24
- G114E (p.Gly114Glu), NCI-TCGA Cosmic COSV5509, ExAC rs755534257, gnomAD rs755534257, REVEL 0.42, MetaLR 0.54, Variant assessed as somatic; high impact.
- T115A (p.Thr115Ala), rs2106388440, ClinGen CA351227429, ClinVar RCV002001178, Ensembl rs2106388440, REVEL 0.13, MetaLR 0.22, Uncertain significance, Bethlem myopathy 1A
- T115N (p.Thr115Asn), rs1243322338, NCI-TCGA Cosmic COSV5509, TOPMed rs1243322338, gnomAD rs1243322338, REVEL 0.21, MetaLR 0.19, Variant assessed as somatic; moderate impact.
- T115S (p.Thr115Ser), TOPMed rs1243322338, gnomAD rs1243322338, REVEL 0.17, MetaLR 0.18
- N116K (p.Asn116Lys), rs2106388428, ClinGen CA351227404, ClinVar RCV001956740, Ensembl rs2106388428, AlphaMissense 0.15, MetaLR 0.23, Uncertain significance, Bethlem myopathy 1A
- N116S (p.Asn116Ser), rs2078394504, ClinGen CA351227408, ClinVar RCV002894561, TOPMed rs2078394504, AlphaMissense 0.06, MetaLR 0.12, Uncertain significance, Bethlem myopathy 1A
- Q117E (p.Gln117Glu), rs1559279697, NCI-TCGA Cosmic COSV5509, gnomAD rs1559279697, REVEL 0.15, MetaLR 0.25, Variant assessed as somatic; moderate impact.
- T118N (p.Thr118Asn), ExAC rs756436846, gnomAD rs756436846, REVEL 0.77, MetaLR 0.86
- G119E (p.Gly119Glu), ExAC rs763755907, TOPMed rs763755907, gnomAD rs763755907, REVEL 0.91, MetaLR 0.84
- K120N (p.Lys120Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K120R (p.Lys120Arg), NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; moderate impact.
- G121* (p.Gly121Ter), NCI-TCGA Cosmic COSV5511, Variant assessed as somatic; high impact.
- G121R (p.Gly121Arg), NCI-TCGA Cosmic COSV5511, REVEL 0.87, MetaLR 0.69, Variant assessed as somatic; moderate impact.
Public COL6A3 analysis runs
- COL6A3 analysis run — COL6A3 (4,738 variants) — completed 2026-08-22