COL1A2 (Collagen alpha-2(I) chain) variants and mutations
COL1A2 (also known as Collagen alpha-2(I) chain) is a human protein-coding gene encoding a collagen alpha-2(I) chain protein. It contributes one of the three chains of type I collagen, providing tensile strength to bone, skin, tendon, blood vessels, and other connective tissues. Pathogenic variants can cause osteogenesis imperfecta, Ehlers-Danlos phenotypes, and related connective-tissue disorders. This analysis covers 2,280 COL1A2 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes osteogenesis imperfecta type 2, osteogenesis imperfecta type 3, and osteogenesis imperfecta type 4. Example COL1A2 variants include M1?, M1L, and L2I.
Variant analysis overview
- Gene: COL1A2
- Protein: Collagen alpha-2(I) chain
- UniProt accession: P08123
- Organism: Homo sapiens
- Variants analyzed: 2280
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 2,202 unspecified-consequence records; 18 synonymous variants; 36 missense variants; 6 frameshift variants; 7 splice-region variants; 1 in-frame insertions; 6 stop-gained variants; 4 substitution
- Prediction scores: 1,451 variants have prediction scores (64% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: osteogenesis imperfecta type 2, osteogenesis imperfecta type 3, osteogenesis imperfecta type 4, Ehlers-Danlos syndrome, cardiac valvular type, Ehlers-Danlos syndrome, arthrochalasic type, osteogenesis imperfecta type 1, osteogenesis imperfecta, combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, osteoporosis, Ehlers-Danlos syndrome, postmenopausal osteoporosis, Abnormality of the skeletal system.
Protein structure and variant hotspots
- Protein features: 1 domains; 5 binding sites; 17 post-translational modification sites.
- Structural context: 359 variants have structural context.
- PTM context: 27 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, ClinGen, MaveDB, LitVar.
Notable COL1A2 variants
Examples include M1?, M1L, L2I, L2L, S3R, S3G, F4L, V5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV9980, cosmic curated COSV99800, Variant assessed as somatic; high impact.
- M1L (p.Met1Leu), rs2484686559, ClinGen CA368218765, ClinVar RCV003789508, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- L2I (p.Leu2Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- L2L (p.Leu2Leu), gnomAD 7-94395037-C-A, CADD 14.40
- S3R (p.Ser3Arg), TOPMed rs1791554499
- S3G (p.Ser3Gly), gnomAD 7-94395038-A-G, REVEL 0.59, CADD 24.70
- F4L (p.Phe4Leu), ExAC rs762106932, TOPMed rs762106932, gnomAD rs762106932, REVEL 0.39, CADD 23.70
- V5E (p.Val5Glu), gnomAD 7-94395045-T-A, REVEL 0.78, CADD 29.10
- D6I (p.Asp6Ile), gnomAD 7-94395045-TG-T, CADD 32.00
- T7A (p.Thr7Ala), gnomAD rs1323281545, REVEL 0.29, CADD 22.40
- T7M (p.Thr7Met), rs543810166, NCI-TCGA Cosmic COSV9980, cosmic curated COSV99800, 1000Genomes rs543810166, REVEL 0.31, CADD 22.30, Variant assessed as somatic; moderate impact.
- T7R (p.Thr7Arg), 1000Genomes rs543810166, ExAC rs543810166, TOPMed rs543810166, gnomAD rs543810166, REVEL 0.56, CADD 22.40
- T7S (p.Thr7Ser), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99801, Variant assessed as somatic; moderate impact.
- R8G (p.Arg8Gly), Ensembl rs1791554829
- R8W (p.Arg8Trp), rs1791554829, ClinGen CA368218812, ClinVar RCV003787962, REVEL 0.76, CADD 32.00, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- R8L (p.Arg8Leu), gnomAD 7-94395054-G-T, REVEL 0.75, CADD 27.70
- R8R (p.Arg8Arg), gnomAD 7-94395055-G-A, CADD 14.80
- T9I (p.Thr9Ile), gnomAD 7-94395057-C-T, REVEL 0.22, CADD 21.20
- L10S (p.Leu10Ser), ExAC rs758795377, TOPMed rs758795377, gnomAD rs758795377, REVEL 0.59, CADD 23.40, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- L10W (p.Leu10Trp), rs758795377, ClinGen CA368218825, ClinVar RCV003792689, ExAC rs758795377, REVEL 0.48, CADD 23.60, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- L10M (p.Leu10Met), gnomAD 7-94395059-T-A, REVEL 0.33, CADD 17.30
- L11S (p.Leu11Ser), rs2484686606, ClinGen CA368218831, ClinVar RCV003072801, REVEL 0.79, CADD 32.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- L11L (p.Leu11Leu), rs1435715528, gnomAD 7-94395062-T-C, CADD 14.60
- L11W (p.Leu11Trp), gnomAD 7-94395063-T-G, REVEL 0.83, CADD 32.00
- L12L (p.Leu12Leu), rs766918040, gnomAD 7-94395065-C-T, CADD 14.90
- L13P (p.Leu13Pro), gnomAD rs1232932107, REVEL 0.48, CADD 24.10
- L13F (p.Leu13Phe), gnomAD 7-94395068-C-T, REVEL 0.48, CADD 24.30
- A14G (p.Ala14Gly), gnomAD 7-94395072-C-G, REVEL 0.57, CADD 23.20
- V15A (p.Val15Ala), gnomAD rs1481305065, REVEL 0.41, CADD 22.70, Uncertain significance, Cardiovascular phenotype
- V15L (p.Val15Leu), TOPMed rs1285228087
- T16N (p.Thr16Asn), ExAC rs752079706, TOPMed rs752079706, gnomAD rs752079706, REVEL 0.46, CADD 23.50
- T16S (p.Thr16Ser), ExAC rs752079706, TOPMed rs752079706, gnomAD rs752079706, REVEL 0.46, CADD 22.80, Uncertain significance, Cardiovascular phenotype
- T16T (p.Thr16Thr), rs780687409, gnomAD 7-94395079-C-T, CADD 8.39
- L17F (p.Leu17Phe), NCI-TCGA TCGA novel, Ensembl rs2115842741, REVEL 0.20, CADD 20.00, Variant assessed as somatic; high impact.
- L17S (p.Leu17Ser), gnomAD 7-94395081-T-C, REVEL 0.20, CADD 17.50
- C18G (p.Cys18Gly), rs200278401, ClinGen CA368218869, ClinVar RCV002231243, ClinVar RCV003900118, REVEL 0.44, CADD 23.80, Conflicting interpretations, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not spe
- C18R (p.Cys18Arg), rs200278401, ClinGen CA4346410, ClinVar RCV000764733, ClinVar RCV001566493, REVEL 0.39, CADD 23.70, Uncertain significance, Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehl
- C18W (p.Cys18Trp), ExAC rs755856571, gnomAD rs755856571, REVEL 0.46, CADD 23.80
- C18Y (p.Cys18Tyr), gnomAD rs1791556058, REVEL 0.23, CADD 19.70
- C18C (p.Cys18Cys), gnomAD 7-94395085-C-T, CADD 15.10
- L19I (p.Leu19Ile), NCI-TCGA Cosmic COSV9979, cosmic curated COSV99799, Variant assessed as somatic; moderate impact.
- L19L (p.Leu19Leu), rs971349366, gnomAD 7-94395086-C-T, CADD 13.80
- A20T (p.Ala20Thr), rs777426777, ClinGen CA4346412, ClinVar RCV002615360, ExAC rs777426777, REVEL 0.28, CADD 22.70, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- A20A (p.Ala20Ala), rs779022418, gnomAD 7-94395091-A-G, CADD 16.10
- T21I (p.Thr21Ile), cosmic curated COSV10512, ExAC rs749148117, gnomAD rs749148117, REVEL 0.42, CADD 22.90
- T21T (p.Thr21Thr), gnomAD 7-94395094-A-G, CADD 15.40
- C22R (p.Cys22Arg), gnomAD 7-94395095-T-C, REVEL 0.67, CADD 25.30
- Q23* (p.Gln23Ter), rs2484686683, ClinGen CA368218900, ClinVar RCV003988627, Osteogenesis imperfecta with normal sclerae, dom
- Q23L (p.Gln23Leu), gnomAD rs1328377093, REVEL 0.60, CADD 32.00
- Q23R (p.Gln23Arg), gnomAD 7-94395099-A-G, REVEL 0.56, CADD 26.30
- Q23Q (p.Gln23Gln), rs770754442, gnomAD 7-94395100-A-G, CADD 19.70
- S24C (p.Ser24Cys), ExAC rs763546006, gnomAD rs763546006, REVEL 0.25, CADD 21.50, Uncertain significance
- S24F (p.Ser24Phe), ExAC rs763546006, gnomAD rs763546006, REVEL 0.22, CADD 23.00, Uncertain significance
- S24P (p.Ser24Pro), NCI-TCGA TCGA novel, Ensembl rs1584310311, Variant assessed as somatic; moderate impact.
- S24Y (p.Ser24Tyr), gnomAD 7-94397748-C-A, REVEL 0.23, CADD 16.90
- p.Ser24 Leu25insPhePhe, gnomAD 7-94397748-C-CTTT, CADD 17.40
- S24S (p.Ser24Ser), rs753471051, gnomAD 7-94397749-T-C, CADD 17.40
- L25F (p.Leu25Phe), gnomAD rs1450036702, REVEL 0.42, CADD 22.70
- L25Y (p.Leu25Tyr), gnomAD 7-94397748-CT-C, CADD 25.60
- L25L (p.Leu25Leu), gnomAD 7-94397750-T-C, CADD 17.50
- L25I (p.Leu25Ile), gnomAD 7-94397750-T-A, REVEL 0.23, CADD 22.10
- L25S (p.Leu25Ser), gnomAD 7-94397751-T-C, REVEL 0.52, CADD 22.80
- Q26R (p.Gln26Arg), rs1313865970, ClinGen CA368218933, ClinVar RCV001887617, TOPMed rs1313865970, REVEL 0.21, CADD 18.30, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Q26* (p.Gln26Ter), gnomAD 7-94397753-C-T, CADD 46.00
- Q26K (p.Gln26Lys), gnomAD 7-94397753-C-A, REVEL 0.18, CADD 22.70
- Q26P (p.Gln26Pro), gnomAD 7-94397754-A-C, REVEL 0.41, CADD 20.90
- Q26H (p.Gln26His), gnomAD 7-94397755-A-T, REVEL 0.31, CADD 25.50
- Q26Q (p.Gln26Gln), rs757027144, gnomAD 7-94397755-A-G, CADD 13.00
- E27=, NCI-TCGA Cosmic COSV5195, Variant assessed as somatic; low impact.
- E27D (p.Glu27Asp), rs2115851777, ClinGen CA368218943, ClinVar RCV002030273, Ensembl rs2115851777, REVEL 0.20, CADD 36.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- E27G (p.Glu27Gly), TOPMed rs1396488676, gnomAD rs1396488676, REVEL 0.25, CADD 22.30
- E27K (p.Glu27Lys), rs1383010138, ClinGen CA368218937, ClinVar RCV002621198, TOPMed rs1383010138, REVEL 0.27, CADD 20.90, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- E27Q (p.Glu27Gln), TOPMed rs1383010138, gnomAD rs1383010138, REVEL 0.22, CADD 15.50, Uncertain significance
- E27V (p.Glu27Val), TOPMed rs1396488676, gnomAD rs1396488676, REVEL 0.31, CADD 19.00
- E27R (p.Glu27Arg), gnomAD 7-94397753-CA-C, CADD 33.00
- E27* (p.Glu27Ter), gnomAD 7-94397756-G-T, CADD 56.00
- E27E (p.Glu27Glu), gnomAD 7-94397758-G-A, CADD 31.00
- E28K (p.Glu28Lys), rs1479695906, ClinGen CA368218982, cosmic curated COSV51959, ClinVar RCV001997179, REVEL 0.28, CADD 26.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- E28* (p.Glu28Ter), gnomAD 7-94398382-G-T, CADD 59.00
- E28Q (p.Glu28Gln), gnomAD 7-94398382-G-C, REVEL 0.24, CADD 25.30
- E28G (p.Glu28Gly), gnomAD 7-94398383-A-G, REVEL 0.24, CADD 13.10
- E28V (p.Glu28Val), gnomAD 7-94398383-A-T, REVEL 0.24, CADD 21.80
- E28E (p.Glu28Glu), gnomAD 7-94398384-A-G, CADD 16.80
- T29A (p.Thr29Ala), gnomAD 7-94398385-A-G, REVEL 0.15, CADD 15.00
- T29P (p.Thr29Pro), gnomAD 7-94398385-A-C, REVEL 0.34, CADD 17.80
- T29S (p.Thr29Ser), gnomAD 7-94398385-A-T, REVEL 0.17, CADD 13.60
- T29N (p.Thr29Asn), gnomAD 7-94398386-C-A, REVEL 0.15, CADD 17.70
- T29I (p.Thr29Ile), gnomAD 7-94398386-C-T, REVEL 0.17, CADD 21.10
- T29T (p.Thr29Thr), rs1801182, gnomAD 7-94398387-T-A, CADD 14.10
- V30I (p.Val30Ile), TOPMed rs1791623420, REVEL 0.21, CADD 12.00
- V30E (p.Val30Glu), gnomAD 7-94398388-GT-G, CADD 22.60
- V30L (p.Val30Leu), gnomAD 7-94398388-G-C, REVEL 0.18, CADD 10.00
- V30A (p.Val30Ala), gnomAD 7-94398389-T-C, REVEL 0.23, CADD 8.52
- V30V (p.Val30Val), rs766090050, gnomAD 7-94398390-A-G, CADD 10.90
- R31E (p.Arg31Glu), gnomAD 7-94398389-TA-T, CADD 32.00
- R31* (p.Arg31Ter), gnomAD 7-94398391-A-T, CADD 36.00
- R31G (p.Arg31Gly), gnomAD 7-94398391-A-G, REVEL 0.17, CADD 22.40
- R31K (p.Arg31Lys), gnomAD 7-94398392-G-A, REVEL 0.18, CADD 18.10
- R31I (p.Arg31Ile), gnomAD 7-94398392-G-T, REVEL 0.24, CADD 23.70
- R31R (p.Arg31Arg), rs751459545, gnomAD 7-94398393-A-G, CADD 13.60
- K32E (p.Lys32Glu), Ensembl rs879302275, REVEL 0.35, CADD 22.60
- K32R (p.Lys32Arg), gnomAD 7-94398392-GA-G, CADD 24.60
- K32* (p.Lys32Ter), gnomAD 7-94398394-A-T, CADD 60.00
- K32Q (p.Lys32Gln), gnomAD 7-94398394-A-C, REVEL 0.33, CADD 23.60
- K32M (p.Lys32Met), gnomAD 7-94398395-A-T, REVEL 0.59, CADD 32.00
- K32T (p.Lys32Thr), gnomAD 7-94398395-A-C, REVEL 0.22, CADD 23.30
- K32K (p.Lys32Lys), gnomAD 7-94398396-G-A, CADD 33.00
- K32N (p.Lys32Asn), gnomAD 7-94398396-G-T, REVEL 0.33, MetaLR 0.72
- G33S (p.Gly33Ser), gnomAD rs1270079545, REVEL 0.91, CADD 33.00
- G33V (p.Gly33Val), rs1791635510, ClinGen CA368219031, ClinVar RCV003813519, Ensembl rs1791635510, REVEL 0.97, CADD 33.00, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Cardiov
- G33G (p.Gly33Gly), gnomAD 7-94399051-C-A, CADD 14.80
- P34S (p.Pro34Ser), cosmic curated COSV51962, Ensembl rs1791635549
- A35T (p.Ala35Thr), gnomAD 7-94399055-G-A, REVEL 0.19, MetaLR 0.56
- A35A (p.Ala35Ala), rs533917998, gnomAD 7-94399057-C-T, CADD 6.69
- G36R (p.Gly36Arg), rs368447157, ClinGen CA4346488, cosmic curated COSV51953, ClinVar RCV002241700, REVEL 0.96, CADD 33.00, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Cardiov
- G36G (p.Gly36Gly), gnomAD 7-94399060-A-T, CADD 15.40
- D37G (p.Asp37Gly), rs1791635844, ClinGen CA368219053, ClinVar RCV003804940, TOPMed rs1791635844, MutPred 0.32, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- D37N (p.Asp37Asn), 1000Genomes rs2115856187, REVEL 0.47, CADD 27.30
- D37D (p.Asp37Asp), gnomAD 7-94399063-T-C, CADD 13.40
- R38G (p.Arg38Gly), ExAC rs776258611, gnomAD rs776258611, REVEL 0.48, CADD 23.90
- R38S (p.Arg38Ser), rs1462108134, ClinGen CA368219061, ClinVar RCV002272099, ClinVar RCV006558728, REVEL 0.34, CADD 23.30, Uncertain significance, not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- R38T (p.Arg38Thr), Ensembl rs2115856219
- R38R (p.Arg38Arg), rs1462108134, gnomAD 7-94399066-A-G, CADD 19.40
- G39A (p.Gly39Ala), ExAC rs761354203, gnomAD rs761354203, REVEL 0.93, CADD 30.00
- G39R (p.Gly39Arg), rs2484692020, ClinGen CA368219063, ClinVar RCV003293659, ClinVar RCV003738424, REVEL 0.97, CADD 32.00, Conflicting interpretations, not provided; Cardiovascular phenotype
- G39* (p.Gly39Ter), gnomAD 7-94399067-G-T, CADD 44.00
- P40T (p.Pro40Thr), rs1363689462, ClinGen CA368219068, ClinVar RCV002277972, TOPMed rs1363689462, REVEL 0.39, CADD 22.90, Uncertain significance, Ehlers-Danlos syndrome
- R41C (p.Arg41Cys), rs769457034, ClinGen CA4346491, ClinVar RCV002022573, ClinVar RCV002276981, REVEL 0.63, CADD 32.00, Uncertain significance, Cardiovascular phenotype; not specified; Ehlers-Danlos syndrome, classic type, 1
- R41H (p.Arg41His), rs139528613, ClinGen CA4346492, ClinVar RCV000260651, ClinVar RCV000371779, REVEL 0.47, CADD 26.10, Benign/Likely benign, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- R41L (p.Arg41Leu), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99800, REVEL 0.58, CADD 26.00, Variant assessed as somatic; moderate impact.
- R41S (p.Arg41Ser), ExAC rs769457034, TOPMed rs769457034, gnomAD rs769457034, Uncertain significance
- R41G (p.Arg41Gly), gnomAD 7-94399073-C-G, REVEL 0.58, MetaLR 0.82
- G42E (p.Gly42Glu), rs762706669, ClinGen CA4346493, ClinVar RCV003884255, ExAC rs762706669, REVEL 0.96, CADD 29.70, Uncertain significance, not provided
- G42V (p.Gly42Val), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99801, Variant assessed as somatic; moderate impact.
- E43G (p.Glu43Gly), NCI-TCGA Cosmic COSV9980, cosmic curated COSV99800, Variant assessed as somatic; moderate impact.
- R44=, NCI-TCGA Cosmic COSV5195, NCI-TCGA Cosmic COSV5196, Variant assessed as somatic; low impact.
- R44K (p.Arg44Lys), ExAC rs766185493, TOPMed rs766185493, gnomAD rs766185493
- P46L (p.Pro46Leu), cosmic curated COSV10964, TOPMed rs1172711296, gnomAD rs1172711296, REVEL 0.30, CADD 19.00
- P46P (p.Pro46Pro), rs148639088, gnomAD 7-94400201-A-C, CADD 13.30
- P47S (p.Pro47Ser), ExAC rs771800420, gnomAD rs771800420, REVEL 0.21, CADD 18.80, Uncertain significance
- P47T (p.Pro47Thr), rs771800420, ClinGen CA4346533, ClinVar RCV002247093, ExAC rs771800420, REVEL 0.20, CADD 18.10, Uncertain significance, not specified
- G48D (p.Gly48Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P49H (p.Pro49His), rs764064979, ClinGen CA4346535, ClinVar RCV002700770, ExAC rs764064979, REVEL 0.51, CADD 22.90, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- P49L (p.Pro49Leu), ExAC rs764064979, TOPMed rs764064979, gnomAD rs764064979, REVEL 0.39, CADD 21.20, Uncertain significance
- P49T (p.Pro49Thr), rs760571966, ClinGen CA4346534, ClinVar RCV003037007, ClinVar RCV003059900, REVEL 0.40, CADD 22.80, Uncertain significance, not provided; not specified; Ehlers-Danlos syndrome, classic type, 1
- P50A (p.Pro50Ala), TOPMed rs879344129, gnomAD rs879344129, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- P50L (p.Pro50Leu), rs377637698, ClinGen CA368219132, ClinVar RCV001925070, ESP rs377637698, REVEL 0.51, CADD 24.10, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- P50Q (p.Pro50Gln), rs377637698, ClinGen CA4346537, ClinVar RCV003481850, ESP rs377637698, REVEL 0.34, CADD 23.30, Uncertain significance, not provided
- P50R (p.Pro50Arg), ESP rs377637698, ExAC rs377637698, TOPMed rs377637698, gnomAD rs377637698, Uncertain significance
- P50S (p.Pro50Ser), rs879344129, ClinGen CA162907094, ClinVar RCV000520256, ClinVar RCV005222997, REVEL 0.35, CADD 22.30, Uncertain significance, not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- P50T (p.Pro50Thr), rs879344129, ClinGen CA368219131, ClinVar RCV002389658, ClinVar RCV005227725, REVEL 0.40, CADD 23.20, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; Cardiov
- R52S (p.Arg52Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R52T (p.Arg52Thr), 1000Genomes rs561632203, ExAC rs561632203, gnomAD rs561632203, REVEL 0.33, CADD 15.20
- D53E (p.Asp53Glu), rs201699348, ClinGen CA368219151, ClinVar RCV003065004, 1000Genomes rs201699348, REVEL 0.59, CADD 24.60, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- D53N (p.Asp53Asn), rs2484693606, ClinGen CA368219145, ClinVar RCV003783350, ClinVar RCV004759290, REVEL 0.34, CADD 22.90, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- D53Y (p.Asp53Tyr), NCI-TCGA Cosmic COSV5195, cosmic curated COSV51952, Variant assessed as somatic; moderate impact.
- G54D (p.Gly54Asp), cosmic curated COSV51958, ExAC rs756667586, TOPMed rs756667586, gnomAD rs756667586, REVEL 0.95, CADD 29.60
- G57C (p.Gly57Cys), rs201137000, ClinGen CA368219174, ClinVar RCV003141642, ESP rs201137000, REVEL 0.96, CADD 32.00, Likely pathogenic, not provided
- G57R (p.Gly57Arg), ESP rs201137000, ExAC rs201137000, gnomAD rs201137000, REVEL 0.96, CADD 31.00, Likely pathogenic
- G57S (p.Gly57Ser), ESP rs201137000, ExAC rs201137000, gnomAD rs201137000, REVEL 0.91, CADD 32.00, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- P58H (p.Pro58His), NCI-TCGA Cosmic COSV5195, cosmic curated COSV51952, Variant assessed as somatic; moderate impact.
- T59P (p.Thr59Pro), rs1800221, UniProt VAR 030116, Ensembl rs1800221, MutPred 0.13
- G60D (p.Gly60Asp), rs2484693671, ClinGen CA368219191, ClinVar RCV003388655, NCI-TCGA Cosmic COSV5195, Uncertain significance, Ehlers-Danlos syndrome, cardiac valvular type
- G60S (p.Gly60Ser), ExAC rs267601641, gnomAD rs267601641, REVEL 0.96, CADD 29.60
- G60V (p.Gly60Val), NCI-TCGA Cosmic COSV5195, NCI-TCGA Cosmic COSV5196, cosmic curated COSV51962, Variant assessed as somatic; moderate impact.
- G66C (p.Gly66Cys), NCI-TCGA Cosmic COSV5196, cosmic curated COSV51967, NCI-TCGA Cosmic COSV9979, REVEL 0.95, CADD 32.00, Variant assessed as somatic; moderate impact.
- G66S (p.Gly66Ser), NCI-TCGA Cosmic COSV5196, NCI-TCGA Cosmic COSV9979, cosmic curated COSV99799, Variant assessed as somatic; moderate impact.
- P67L (p.Pro67Leu), cosmic curated COSV51960, TOPMed rs1791664582
- P67S (p.Pro67Ser), rs2484693719, ClinGen CA368219231, ClinVar RCV003794093, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- G69D (p.Gly69Asp), gnomAD rs1305273108, REVEL 0.91, CADD 27.30
- P70A (p.Pro70Ala), ExAC rs771749616, TOPMed rs771749616, gnomAD rs771749616, Uncertain significance
- P70L (p.Pro70Leu), NCI-TCGA TCGA novel, Ensembl rs1791665067, REVEL 0.59, CADD 24.80, Variant assessed as somatic; moderate impact.
- P70S (p.Pro70Ser), rs771749616, ClinGen CA4346551, ClinVar RCV003793378, ExAC rs771749616, REVEL 0.53, CADD 24.50, Uncertain significance, Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- P71A (p.Pro71Ala), ExAC rs775240284, TOPMed rs775240284, gnomAD rs775240284, REVEL 0.59, CADD 23.90, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- P71S (p.Pro71Ser), rs775240284, ClinGen CA4346552, ClinVar RCV003334293, ExAC rs775240284, REVEL 0.60, CADD 24.50, Uncertain significance, not provided
- P71T (p.Pro71Thr), ExAC rs775240284, TOPMed rs775240284, gnomAD rs775240284, REVEL 0.67, CADD 26.00, Uncertain significance, Cardiovascular phenotype
- L73F (p.Leu73Phe), Ensembl rs1791665589, REVEL 0.54, CADD 24.10, Uncertain significance, Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- G74S (p.Gly74Ser), rs776365460, ClinGen CA4346555, cosmic curated COSV10439, ClinVar RCV001794592, REVEL 0.22, CADD 21.50, Uncertain significance, not specified; not provided; Osteogenesis imperfecta type I
- G75W (p.Gly75Trp), rs2115860730, ClinGen CA368219277, ClinVar RCV002277778, Ensembl rs2115860730, MutPred 0.99, Uncertain significance, Osteogenesis imperfecta
- N76K (p.Asn76Lys), gnomAD rs1429627184, REVEL 0.47, CADD 23.00
Public COL1A2 analysis runs
- COL1A2 analysis run — COL1A2 (2,280 variants) — completed 2026-08-19