COL6A2 (Collagen alpha-2(VI) chain) variants and mutations
COL6A2 (also known as Collagen alpha-2(VI) chain) is a human protein-coding gene encoding a collagen alpha-2(VI) chain protein. It assembles with other collagen VI chains into extracellular microfibrils that support muscle and connective-tissue integrity. Dominant or recessive pathogenic variants cause collagen VI-related muscular dystrophy and myopathy across a broad severity spectrum. This analysis covers 2,058 COL6A2 variants and mutations. Of these, 84% have computational variant effect predictions. Disease context includes Ullrich congenital muscular dystrophy 1B, Bethlem myopathy, and Congenital muscular dystrophy, Ullrich type. Example COL6A2 variants include M1?, M1I, and L2P.
Variant analysis overview
- Gene: COL6A2
- Protein: Collagen alpha-2(VI) chain
- UniProt accession: P12110
- Organism: Homo sapiens
- Variants analyzed: 2058
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 1,765 unspecified-consequence records; 103 missense variants; 148 synonymous variants; 23 frameshift variants; 11 stop-gained variants; 8 in-frame deletions; 1 splice-region variants; 2 in-frame insertions
- Prediction scores: 1,737 variants have prediction scores (84% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Ullrich congenital muscular dystrophy 1B, Bethlem myopathy, Congenital muscular dystrophy, Ullrich type, Bethlem myopathy 1B, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, myosclerosis, collagen 6-related myopathy, Ullrich congenital muscular dystrophy, Dupuytren Contracture, muscular dystrophy, hereditary disease.
Protein structure and variant hotspots
- Protein features: 3 domains; 8 post-translational modification sites.
- Structural context: 1,232 variants have structural context.
- PTM context: 12 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 COL6A2 variants
Examples include M1?, M1I, L2P, L2V, Q3R, G4R, G4G, T5I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV5599, cosmic curated COSV55997, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs2078397134, ClinGen CA410518918, ClinVar RCV001050186, ClinVar RCV004590059, MetaLR 0.75, MetaSVM 0.63, Uncertain significance, Bethlem myopathy 1A; not provided
- L2P (p.Leu2Pro), rs2516988206, ClinGen CA410518940, ClinVar RCV004437516, Uncertain significance, Inborn genetic diseases
- L2V (p.Leu2Val), gnomAD 21-46111480-C-G, REVEL 0.22, CADD 17.30
- Q3R (p.Gln3Arg), gnomAD 21-46111484-A-G, REVEL 0.25, CADD 0.11
- G4R (p.Gly4Arg), gnomAD 21-46111486-G-C, REVEL 0.45, CADD 7.83
- G4G (p.Gly4Gly), rs568730672, gnomAD 21-46111488-C-T, CADD 5.71
- T5I (p.Thr5Ile), rs886043160, ClinGen CA10605186, ClinVar RCV000398769, TOPMed rs886043160, REVEL 0.19, CADD 8.79, Uncertain significance, not provided
- T5P (p.Thr5Pro), Ensembl rs2123612590
- T5A (p.Thr5Ala), gnomAD 21-46111489-A-G, REVEL 0.29, CADD 0.80
- T5T (p.Thr5Thr), gnomAD 21-46111491-C-G, CADD 2.73
- C6S (p.Cys6Ser), rs2078397289, ClinGen CA410519025, ClinVar RCV001334960, ClinVar RCV002295338, REVEL 0.23, CADD 6.08, Uncertain significance, Bethlem myopathy 1A; Myosclerosis
- C6Y (p.Cys6Tyr), gnomAD 21-46111493-G-A, REVEL 0.27, CADD 5.97
- C6C (p.Cys6Cys), gnomAD 21-46111494-C-T, CADD 6.51
- C6W (p.Cys6Trp), gnomAD 21-46111494-C-G, REVEL 0.30, CADD 13.50
- S7F (p.Ser7Phe), NCI-TCGA Cosmic COSV5600, cosmic curated COSV56000, Uncertain significance, Bethlem myopathy 1A
- S7Y (p.Ser7Tyr), gnomAD 21-46111496-C-A, REVEL 0.42, CADD 3.94
- S7S (p.Ser7Ser), rs760481395, gnomAD 21-46111497-C-T, CADD 2.00
- V8G (p.Val8Gly), gnomAD rs1378759186, REVEL 0.53, CADD 7.82
- V8M (p.Val8Met), rs192476178, ClinGen CA241442, cosmic curated COSV56006, ClinVar RCV000724735, REVEL 0.28, CADD 14.20, Conflicting interpretations, not provided; Bethlem myopathy 1A
- V8R (p.Val8Arg), rs2516988200, ClinGen CA2580098886, ClinVar RCV003143717, Likely pathogenic
- V8V (p.Val8Val), rs753618068, gnomAD 21-46111500-G-A, CADD 3.70
- L9F (p.Leu9Phe), gnomAD 21-46111501-C-T, REVEL 0.22, CADD 18.50
- L9L (p.Leu9Leu), rs1201571014, gnomAD 21-46111503-C-T, CADD 6.43
- L10R (p.Leu10Arg), rs1322695807, ClinGen CA410519125, ClinVar RCV003632417, ClinVar RCV004980946, REVEL 0.56, CADD 22.70, Uncertain significance, Inborn genetic diseases; Bethlem myopathy 1A
- L10L (p.Leu10Leu), gnomAD 21-46111504-C-T, CADD 8.49
- L11F (p.Leu11Phe), TOPMed rs867136982
- L11L (p.Leu11Leu), gnomAD 21-46111509-C-A, CADD 4.92
- G13E (p.Gly13Glu), TOPMed rs1258691411
- I14F (p.Ile14Phe), Ensembl rs1568924906
- I14P (p.Ile14Pro), gnomAD 21-46111508-TCTGG, CADD 24.70
- I14I (p.Ile14Ile), rs199759601, gnomAD 21-46111518-C-T, CADD 6.60
- L15L (p.Leu15Leu), gnomAD 21-46111519-C-T, CADD 5.54
- G16E (p.Gly16Glu), Ensembl rs1220525593
- G16G (p.Gly16Gly), rs975122039, gnomAD 21-46111524-G-A, CADD 4.92
- A17D (p.Ala17Asp), 1000Genomes rs568363712, ExAC rs568363712, gnomAD rs568363712, REVEL 0.49, CADD 12.30
- A17T (p.Ala17Thr), gnomAD rs1308322836, REVEL 0.24, CADD 1.03
- A17P (p.Ala17Pro), gnomAD 21-46111520-TG-T, CADD 16.80
- A17A (p.Ala17Ala), rs2078397960, gnomAD 21-46111527-C-G, CADD 3.01
- I18M (p.Ile18Met), rs199902438, ClinGen CA321957030, ClinVar RCV001138775, gnomAD rs199902438, REVEL 0.11, CADD 10.90, Uncertain significance, Collagen 6-related myopathy
- I18V (p.Ile18Val), TOPMed rs1407504586, gnomAD rs1407504586, REVEL 0.17, CADD 0.15
- I18S (p.Ile18Ser), gnomAD 21-46111525-GC-G, CADD 16.00
- I18F (p.Ile18Phe), gnomAD 21-46111528-A-T, REVEL 0.19, CADD 8.52
- I18L (p.Ile18Leu), gnomAD 21-46111528-A-C, REVEL 0.18, CADD 0.18
- I18I (p.Ile18Ile), gnomAD 21-46111530-C-A, CADD 3.24
- Q19E (p.Gln19Glu), TOPMed rs2078398084
- Q19H (p.Gln19His), NCI-TCGA Cosmic COSV5601, cosmic curated COSV56011, Variant assessed as somatic; moderate impact.
- Q19Q (p.Gln19Gln), rs2078398115, gnomAD 21-46111533-G-A, CADD 0.19
- A20S (p.Ala20Ser), NCI-TCGA Cosmic COSV5601, cosmic curated COSV56011, Variant assessed as somatic; moderate impact.
- A20T (p.Ala20Thr), rs2078398153, ClinGen CA410519298, ClinVar RCV001239962, Ensembl rs2078398153, REVEL 0.20, CADD 19.90, Uncertain significance, Bethlem myopathy 1A
- A20V (p.Ala20Val), gnomAD 21-46111535-C-T, REVEL 0.16, CADD 20.80
- Q21R (p.Gln21Arg), rs751632108, ClinGen CA10071167, ClinVar RCV001948627, ExAC rs751632108, REVEL 0.37, CADD 22.80, Uncertain significance, Bethlem myopathy 1A
- Q21* (p.Gln21Ter), gnomAD 21-46111537-C-T, CADD 36.00
- Q21P (p.Gln21Pro), gnomAD 21-46111538-A-C, REVEL 0.44, CADD 23.00
- Q21Q (p.Gln21Gln), rs2078398273, gnomAD 21-46111539-G-A, CADD 10.00
- Q22H (p.Gln22His), TOPMed rs2078398321
- Q23E (p.Gln23Glu), gnomAD rs1232463161
- E24del (p.Glu24del), gnomAD 21-46111543-CAGG-, CADD 16.40
- E24E (p.Glu24Glu), gnomAD 21-46111548-G-A, CADD 6.87
- V25D (p.Val25Asp), ExAC rs757742434, TOPMed rs757742434, gnomAD rs757742434, REVEL 0.41, CADD 14.20, Uncertain significance, Inborn genetic diseases
- V25I (p.Val25Ile), rs2123612816, ClinGen CA410519437, ClinVar RCV001958380, Ensembl rs2123612816, AlphaMissense 0.07, MetaLR 0.21, Uncertain significance, Bethlem myopathy 1A
- V25F (p.Val25Phe), gnomAD 21-46111549-G-T, REVEL 0.27, CADD 9.23
- V25V (p.Val25Val), gnomAD 21-46111551-C-A, CADD 12.10
- I26M (p.Ile26Met), gnomAD rs1601215453, REVEL 0.06, CADD 8.54
- I26N (p.Ile26Asn), TOPMed rs1344130177, gnomAD rs1344130177
- I26T (p.Ile26Thr), TOPMed rs1344130177, gnomAD rs1344130177, REVEL 0.11, CADD 13.00
- S27L (p.Ser27Leu), rs150057026, ClinGen CA10071169, cosmic curated COSV56015, ClinVar RCV000809351, REVEL 0.19, CADD 10.90, Conflicting interpretations, Inborn genetic diseases; Bethlem myopathy 1A
- S27S (p.Ser27Ser), rs111639540, gnomAD 21-46111557-G-A, CADD 0.46
- P28A (p.Pro28Ala), rs770089592, ClinGen CA410519494, ClinVar RCV002807568, REVEL 0.10, CADD 9.20, Uncertain significance, Inborn genetic diseases
- P28L (p.Pro28Leu), rs778546141, ClinGen CA10071172, ClinVar RCV001962505, ExAC rs778546141, REVEL 0.14, CADD 16.90, Likely benign, Bethlem myopathy 1A
- P28R (p.Pro28Arg), rs778546141, ClinGen CA410519499, ClinVar RCV000820571, ExAC rs778546141, REVEL 0.23, CADD 14.30, Uncertain significance, Bethlem myopathy 1A
- P28S (p.Pro28Ser), rs770089592, ClinGen CA10071171, ClinVar RCV002943017, ClinVar RCV003491175, REVEL 0.11, CADD 11.10, Uncertain significance, not provided; Bethlem myopathy 1A
- P28P (p.Pro28Pro), rs140890046, gnomAD 21-46111560-G-A, CADD 0.22
- D29A (p.Asp29Ala), ExAC rs772646535, TOPMed rs772646535, gnomAD rs772646535, REVEL 0.20, CADD 0.02
- T30A (p.Thr30Ala), Ensembl rs2078398787, REVEL 0.14, CADD 0.74
- T31I (p.Thr31Ile), gnomAD 21-46111568-C-T, REVEL 0.16, CADD 6.22
- T31T (p.Thr31Thr), rs953778915, gnomAD 21-46111569-C-T, CADD 0.16
- E32* (p.Glu32Ter), rs547648292, ClinGen CA410519570, ClinVar RCV000520825, 1000Genomes rs547648292, CADD 35.00, Likely pathogenic
- E32D (p.Glu32Asp), gnomAD rs1450538075
- E32K (p.Glu32Lys), rs547648292, ClinGen CA10071176, cosmic curated COSV56002, ClinVar RCV000306725, REVEL 0.17, CADD 14.10, Conflicting interpretations, Inborn genetic diseases; not provided; Bethlem myopathy 1A
- R33T (p.Arg33Thr), gnomAD 21-46111574-G-C, REVEL 0.38, CADD 19.50
- N34D (p.Asn34Asp), TOPMed rs1388669559, gnomAD rs1388669559, REVEL 0.07, CADD 11.30
- N34K (p.Asn34Lys), TOPMed rs2078399087
- N35K (p.Asn35Lys), rs2516988406, ClinGen CA410519674, ClinVar RCV003447813, Uncertain significance, Bethlem myopathy 1A
- N35N (p.Asn35Asn), gnomAD 21-46111581-C-T, CADD 7.02
- N36del (p.Asn36del), rs754701639, gnomAD 21-46111575-AAAC-, CADD 10.40
- C37* (p.Cys37Ter), rs986393872, ClinGen CA321957047, ClinVar RCV001375966, gnomAD rs986393872, Likely pathogenic
- C37S (p.Cys37Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- C37C (p.Cys37Cys), rs986393872, gnomAD 21-46111587-C-T, CADD 11.70
- P38L (p.Pro38Leu), Ensembl rs2078399247
- P38S (p.Pro38Ser), rs2078399168, ClinGen CA410519759, ClinVar RCV001361070, ClinVar RCV004779095, REVEL 0.21, CADD 18.50, Uncertain significance, not provided; Bethlem myopathy 1A
- E39D (p.Glu39Asp), gnomAD rs1270122764, REVEL 0.10, CADD 15.50
- E39E (p.Glu39Glu), rs1270122764, gnomAD 21-46111980-G-A, CADD 10.10
- K40E (p.Lys40Glu), Ensembl rs727502825
- K40N (p.Lys40Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K40T (p.Lys40Thr), rs2516989049, ClinGen CA410519919, ClinVar RCV003143304, Uncertain significance, not provided
- K40del (p.Lys40del), gnomAD 21-46111978-GAGA-, CADD 24.20
- K40K (p.Lys40Lys), rs200025682, gnomAD 21-46111983-G-A, CADD 5.12
- T41T (p.Thr41Thr), rs766840536, gnomAD 21-46111986-C-T, CADD 1.14
- D42E (p.Asp42Glu), TOPMed rs2078405372, gnomAD rs2078405372, REVEL 0.24, CADD 13.80
- D42N (p.Asp42Asn), ExAC rs754269869, TOPMed rs754269869, gnomAD rs754269869, REVEL 0.24, CADD 19.60, Uncertain significance, not provided
- D42Y (p.Asp42Tyr), rs754269869, ClinGen CA410519942, ClinVar RCV003104332, ClinVar RCV004763590, REVEL 0.50, CADD 24.10, Uncertain significance, Bethlem myopathy 1A; not provided
- D42G (p.Asp42Gly), gnomAD 21-46111988-A-G, REVEL 0.41, CADD 23.30
- C43C (p.Cys43Cys), rs755324001, gnomAD 21-46111992-C-T, CADD 9.25
- P44L (p.Pro44Leu), gnomAD rs1256467967
- P44S (p.Pro44Ser), ExAC rs777293610, gnomAD rs777293610, REVEL 0.57, CADD 24.00
- P44P (p.Pro44Pro), rs2123614144, gnomAD 21-46111995-C-T, CADD 2.31
- I45V (p.Ile45Val), cosmic curated COSV56000, Ensembl rs1568925307, REVEL 0.19, CADD 0.96
- I45I (p.Ile45Ile), gnomAD 21-46111998-C-T, CADD 7.07
- H46R (p.His46Arg), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, Variant assessed as somatic; moderate impact.
- H46Y (p.His46Tyr), rs144735844, ClinGen CA321957134, ClinVar RCV002022922, ClinVar RCV004046734, REVEL 0.35, CADD 8.94, Uncertain significance, Inborn genetic diseases; Bethlem myopathy 1A
- H46H (p.His46His), rs201753549, gnomAD 21-46112001-C-T, CADD 1.77
- V47A (p.Val47Ala), rs2123614177, ClinGen CA410519991, ClinVar RCV001967117, Ensembl rs2123614177, REVEL 0.78, CADD 26.70, Uncertain significance, Bethlem myopathy 1A
- V47M (p.Val47Met), rs370171967, ClinGen CA10071219, ClinVar RCV000593689, ClinVar RCV001215044, REVEL 0.56, CADD 25.20, Conflicting interpretations, Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Y48C (p.Tyr48Cys), NCI-TCGA Cosmic COSV1001, cosmic curated COSV10015, Variant assessed as somatic; moderate impact.
- Y48F (p.Tyr48Phe), rs780803351, ClinGen CA10071220, ClinVar RCV001765191, ExAC rs780803351, REVEL 0.38, CADD 22.10, Uncertain significance, not provided
- Y48Y (p.Tyr48Tyr), rs1158417696, gnomAD 21-46112007-C-T, CADD 9.16
- F49L (p.Phe49Leu), gnomAD 21-46112010-C-A, REVEL 0.62, CADD 23.90
- F49F (p.Phe49Phe), rs372955675, gnomAD 21-46112010-C-T, CADD 10.70
- V50L (p.Val50Leu), rs727502826, ClinGen CA410520024, ClinVar RCV002301934, AlphaMissense 0.53, MetaLR 0.70, Uncertain significance, Bethlem myopathy 1A
- V50M (p.Val50Met), rs727502826, ClinGen CA295261, cosmic curated COSV10881, ClinVar RCV000662155, REVEL 0.68, AlphaMissense 0.53, Uncertain significance, Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
- V50V (p.Val50Val), rs2123614200, gnomAD 21-46112013-G-T, CADD 9.81
- L51L (p.Leu51Leu), gnomAD 21-46112016-G-A, CADD 13.20
- D52G (p.Asp52Gly), rs2516989146, ClinGen CA410520048, ClinVar RCV003631360, Uncertain significance, Bethlem myopathy 1A
- D52N (p.Asp52Asn), gnomAD rs1303247044, REVEL 0.92, CADD 31.00
- D52Y (p.Asp52Tyr), gnomAD 21-46112017-G-T, REVEL 0.98, CADD 31.00
- D52D (p.Asp52Asp), gnomAD 21-46112019-C-T, CADD 12.20
- T53A (p.Thr53Ala), Ensembl rs1601216760
- T53T (p.Thr53Thr), rs2123614218, gnomAD 21-46112022-C-G, CADD 2.93
- S54L (p.Ser54Leu), rs1252515693, ClinGen CA410520080, cosmic curated COSV10736, ClinVar RCV001950112, REVEL 0.95, CADD 27.00, Uncertain significance, Bethlem myopathy 1A
- S54T (p.Ser54Thr), gnomAD rs1401179936, REVEL 0.94, CADD 25.60
- S54A (p.Ser54Ala), gnomAD 21-46112023-T-G, REVEL 0.93, CADD 26.20
- S54S (p.Ser54Ser), rs780123839, gnomAD 21-46112025-G-A, CADD 7.59
- E55D (p.Glu55Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E55G (p.Glu55Gly), gnomAD rs1290376046, REVEL 0.74, CADD 31.00
- E55K (p.Glu55Lys), gnomAD 21-46112026-G-A, REVEL 0.75, CADD 31.00
- E55* (p.Glu55Ter), gnomAD 21-46112026-G-T, CADD 39.00
- E55E (p.Glu55Glu), rs539657611, gnomAD 21-46112028-G-A, CADD 12.30
- S56N (p.Ser56Asn), rs1555871311, ClinGen CA410520105, ClinVar RCV000554954, ClinVar RCV000594605, REVEL 0.71, CADD 26.60, Uncertain significance, not provided; Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
- S56S (p.Ser56Ser), rs749106470, gnomAD 21-46112031-C-T, CADD 11.30
- V57F (p.Val57Phe), NCI-TCGA Cosmic COSV5599, NCI-TCGA Cosmic COSV5601, cosmic curated COSV56014, Variant assessed as somatic; moderate impact.
- V57I (p.Val57Ile), rs768434256, ClinGen CA10071224, NCI-TCGA Cosmic COSV5599, cosmic curated COSV55998, REVEL 0.20, CADD 14.30, Conflicting interpretations, Inborn genetic diseases; Bethlem myopathy 1A; Myosclerosis
- T58I (p.Thr58Ile), rs1182740901, gnomAD rs1182740901, REVEL 0.34, CADD 22.20, Variant assessed as somatic; moderate impact.
- M59L (p.Met59Leu), rs914450923, ClinGen CA321957144, ClinVar RCV001771535, Ensembl rs914450923, REVEL 0.24, CADD 18.10, Uncertain significance, not provided
- M59R (p.Met59Arg), gnomAD rs886043225, REVEL 0.66, AlphaMissense 0.43, Uncertain significance
- M59T (p.Met59Thr), rs886043225, ClinGen CA10605263, ClinVar RCV000324629, ClinVar RCV001301872, AlphaMissense 0.43, MetaLR 0.47, Conflicting interpretations, not provided; Bethlem myopathy 1A
- M59V (p.Met59Val), gnomAD 21-46112038-A-G, REVEL 0.36, CADD 23.10
- Q60L (p.Gln60Leu), ESP rs147892526, ExAC rs147892526, TOPMed rs147892526, gnomAD rs147892526, REVEL 0.79, AlphaMissense 0.22, Uncertain significance
- Q60P (p.Gln60Pro), rs147892526, ClinGen CA410520154, ClinVar RCV002046021, ClinVar RCV002252755, AlphaMissense 0.22, MetaLR 0.66, Uncertain significance, See cases; Bethlem myopathy 1A
- Q60R (p.Gln60Arg), ESP rs147892526, ExAC rs147892526, TOPMed rs147892526, gnomAD rs147892526, REVEL 0.60, AlphaMissense 0.22, Benign, Bethlem myopathy 1A
- Q60* (p.Gln60Ter), gnomAD 21-46112041-C-T, CADD 37.00
- S61F (p.Ser61Phe), gnomAD rs1211391314
- S61P (p.Ser61Pro), rs990733473, ClinGen CA321957147, ClinVar RCV000594532, ClinVar RCV000690523, REVEL 0.22, CADD 20.10, Uncertain significance, not provided; Bethlem myopathy 1A
- P62P (p.Pro62Pro), rs762050166, gnomAD 21-46112049-C-G, CADD 11.00
- T63M (p.Thr63Met), rs201094892, ClinGen CA10071227, cosmic curated COSV56009, ClinVar RCV000337273, REVEL 0.25, CADD 21.40, Conflicting interpretations, not provided; Bethlem myopathy 1A
- T63R (p.Thr63Arg), 1000Genomes rs201094892, ExAC rs201094892, TOPMed rs201094892, gnomAD rs201094892, REVEL 0.33, CADD 21.20, Benign
- T63H (p.Thr63His), rs886041439, gnomAD 21-46112044-T-TC, CADD 26.90
- T63T (p.Thr63Thr), rs143583433, gnomAD 21-46112052-G-A, CADD 1.39
- D64D (p.Asp64Asp), gnomAD 21-46112055-C-T, CADD 11.80
- I65V (p.Ile65Val), TOPMed rs928718405
- I65L (p.Ile65Leu), gnomAD 21-46112056-A-C, REVEL 0.09, CADD 22.80
- L66L (p.Leu66Leu), rs201055113, gnomAD 21-46112059-C-T, CADD 12.40
- L66P (p.Leu66Pro), gnomAD 21-46112060-T-C, REVEL 0.92, CADD 27.70
- L67F (p.Leu67Phe), rs2078406730, ClinGen CA410520230, ClinVar RCV001325241, ClinVar RCV003166907, REVEL 0.37, CADD 25.30, Uncertain significance, Inborn genetic diseases; not provided; Bethlem myopathy 1A
- L67L (p.Leu67Leu), rs1601216910, gnomAD 21-46112064-C-T, CADD 1.68
- F68L (p.Phe68Leu), rs766930447, ClinGen CA10071230, ClinVar RCV001579928, ClinVar RCV005809604, REVEL 0.23, CADD 12.90, Uncertain significance, not provided; Inborn genetic diseases
- H69R (p.His69Arg), gnomAD rs1180790040, REVEL 0.40, CADD 22.80
- H69Y (p.His69Tyr), rs2078406856, ClinGen CA410520257, NCI-TCGA Cosmic COSV5600, cosmic curated COSV56007, REVEL 0.41, CADD 24.00, Uncertain significance, Bethlem myopathy 1A
- H69T (p.His69Thr), gnomAD 21-46112066-TC-T, CADD 22.50
- H69H (p.His69His), rs754275746, gnomAD 21-46112070-C-T, CADD 9.78
- M70T (p.Met70Thr), Ensembl rs2123614432
- M70V (p.Met70Val), rs1006510673, TOPMed rs1006510673, gnomAD rs1006510673, REVEL 0.23, CADD 19.20, Variant assessed as somatic; moderate impact.
- K71R (p.Lys71Arg), ExAC rs759923819, REVEL 0.40, CADD 21.80
- Q72E (p.Gln72Glu), ESP rs370975647, ExAC rs370975647, TOPMed rs370975647, gnomAD rs370975647, REVEL 0.17, CADD 12.50
- Q72K (p.Gln72Lys), ESP rs370975647, ExAC rs370975647, TOPMed rs370975647, gnomAD rs370975647
- F73C (p.Phe73Cys), Ensembl rs202111269, Uncertain significance, not provided
- F73L (p.Phe73Leu), 1000Genomes rs374336669, ESP rs374336669, ExAC rs374336669, TOPMed rs374336669, REVEL 0.65, CADD 22.00, Uncertain significance, Bethlem myopathy 1A
- F73I (p.Phe73Ile), gnomAD 21-46112080-T-A, REVEL 0.84, CADD 28.40
- F73F (p.Phe73Phe), rs374336669, gnomAD 21-46112082-C-T, CADD 8.38
- V74A (p.Val74Ala), rs780700520, ClinGen CA10071237, ClinVar RCV003632959, ExAC rs780700520, REVEL 0.57, CADD 26.30, Uncertain significance, Bethlem myopathy 1A
Public COL6A2 analysis runs
- COL6A2 analysis run — COL6A2 (2,058 variants) — completed 2026-08-22