COL1A1 (Collagen alpha-1(I) chain) variants and mutations
COL1A1 (also known as Collagen alpha-1(I) chain) is a human protein-coding gene encoding a collagen alpha-1(I) chain protein. The alpha-1 chain of type I collagen, the main fibrillar collagen in connective tissue, bone, and skin. Together with its partner chain, it forms strong extracellular fibers, and COL1A1 variants are associated with osteogenesis imperfecta and several Ehlers-Danlos syndromes. This analysis covers 2,483 COL1A1 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes osteogenesis imperfecta type 2, osteogenesis imperfecta type 4, and osteogenesis imperfecta type 3. Example COL1A1 variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: COL1A1
- Protein: Collagen alpha-1(I) chain
- UniProt accession: P02452
- Organism: Homo sapiens
- Variants analyzed: 2483
- Variant scope: all variants
- Completed: 2026-05-15
Variant and mutation evidence
- Variant composition: 2,234 unspecified-consequence records; 135 synonymous variants; 100 missense variants; 4 frameshift variants; 1 in-frame insertions; 3 splice-region variants; 2 in-frame deletions; 1 stop-gained variants; 3 substitution
- Prediction scores: 2,370 variants have prediction scores (95% 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 4, osteogenesis imperfecta type 3, osteogenesis imperfecta type 1, Caffey disease, Ehlers-Danlos syndrome, arthrochalasic type, combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, osteogenesis imperfecta, Ehlers-Danlos syndrome, arthrochalasia type, osteoporosis, postmenopausal osteoporosis, Ehlers-Danlos syndrome, classic type.
Protein structure and variant hotspots
- Protein features: 2 domains; 5 binding sites; 128 post-translational modification sites.
- Structural context: 672 variants have structural context.
- PTM context: 172 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, PharmGKB, MaveDB, LitVar.
Notable COL1A1 variants
Examples include M1I, M1L, M1T, M1V, F2L, S3I, S3R, F4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1567766329, ClinGen CA400230603, ClinVar RCV001994619, ClinGen CA400230605, ESM-1b 1.00, AlphaMissense 0.84, Pathogenic, Osteogenesis imperfecta type I; not provided
- M1L (p.Met1Leu), rs1555575889, ClinGen CA400230609, ClinVar RCV002994692, ClinGen CA400230610, ESM-1b 0.71, AlphaMissense 0.36, Pathogenic, Osteogenesis imperfecta type I
- M1T (p.Met1Thr), rs1567766338, ClinGen CA400230607, ClinVar RCV000702474, ESM-1b 0.97, AlphaMissense 0.85, Pathogenic, Osteogenesis imperfecta type I
- M1V (p.Met1Val), rs1555575889, ClinGen CA400230611, ClinVar RCV000631497, ClinVar RCV001796147, ESM-1b 0.93, AlphaMissense 0.26, Pathogenic, Osteogenesis imperfecta type I
- F2L (p.Phe2Leu), ExAC rs776596093, TOPMed rs776596093, gnomAD rs776596093, REVEL 0.47, ESM-1b 0.00, Likely benign
- S3I (p.Ser3Ile), Ensembl rs1031641541, ESM-1b 0.22, AlphaMissense 0.83
- S3R (p.Ser3Arg), rs2509267359, ClinGen CA400230548, ClinVar RCV003632287, ESM-1b 0.00, AlphaMissense 0.94, Uncertain significance, Osteogenesis imperfecta type I
- F4S (p.Phe4Ser), TOPMed rs1245366871, gnomAD rs1245366871, REVEL 0.89, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I
- V5E (p.Val5Glu), Ensembl rs1908095519, ESM-1b 0.00, AlphaMissense 0.81
- D6A (p.Asp6Ala), Ensembl rs1598303734, REVEL 0.80, ESM-1b 0.00
- D6E (p.Asp6Glu), TOPMed rs977701735, gnomAD rs977701735, REVEL 0.64, ESM-1b 0.00
- L7F (p.Leu7Phe), ExAC rs764193520, gnomAD rs764193520, REVEL 0.20, ESM-1b 0.00
- R8G (p.Arg8Gly), rs775349207, ClinGen CA400230482, ClinVar RCV003517597, ESM-1b 0.04, AlphaMissense 0.70, Uncertain significance, Osteogenesis imperfecta type I
- R8Q (p.Arg8Gln), rs1196007286, ClinGen CA400230480, ClinVar RCV001221789, ClinVar RCV004032425, REVEL 0.73, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I; Cardiovascular phenotype
- R8W (p.Arg8Trp), rs775349207, ClinGen CA8645892, ClinVar RCV003518440, ExAC rs775349207, REVEL 0.82, ESM-1b 1.00, Uncertain significance, Osteogenesis imperfecta type I
- L9R (p.Leu9Arg), Ensembl rs1908093509, ESM-1b 0.32, AlphaMissense 0.57
- L10P (p.Leu10Pro), rs1265184237, ClinGen CA400230446, ClinVar RCV003632855, TOPMed rs1265184237, REVEL 0.74, ESM-1b 0.64, Uncertain significance, Osteogenesis imperfecta type I
- L11P (p.Leu11Pro), Ensembl rs971635345, ESM-1b 1.00, AlphaMissense 0.75
- L12F (p.Leu12Phe), ExAC rs745701599, gnomAD rs745701599, REVEL 0.62, ESM-1b 0.00
- L12P (p.Leu12Pro), rs1555575857, ClinGen CA400230427, ClinVar RCV001223346, Ensembl rs1555575857, ESM-1b 1.00, AlphaMissense 0.85, Uncertain significance, Osteogenesis imperfecta type I
- L12R (p.Leu12Arg), rs1555575857, ClinGen CA400230428, ClinVar RCV000525857, ClinVar RCV003230531, ESM-1b 1.00, AlphaMissense 0.94, Conflicting interpretations, not specified; Osteogenesis imperfecta type I
- A14V (p.Ala14Val), NCI-TCGA Cosmic COSV9986, REVEL 0.28, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- A15V (p.Ala15Val), TOPMed rs1402058581, gnomAD rs1402058581, REVEL 0.23, ESM-1b 0.00
- T16N (p.Thr16Asn), ExAC rs748926402, gnomAD rs748926402, REVEL 0.48, ESM-1b 0.00
- A17T (p.Ala17Thr), Ensembl rs1908090280, ESM-1b 0.00, AlphaMissense 0.10
- L18P (p.Leu18Pro), TOPMed rs1908089806, ESM-1b 0.00, AlphaMissense 0.79
- T20M (p.Thr20Met), gnomAD rs1301012690, REVEL 0.27, ESM-1b 1.00
- H21Y (p.His21Tyr), rs777150332, ClinGen CA8645886, ClinVar RCV001768806, ClinVar RCV003631216, REVEL 0.27, ESM-1b 0.00, Conflicting interpretations, Osteogenesis imperfecta type I; not provided
- G22C (p.Gly22Cys), ExAC rs72667007, TOPMed rs72667007, gnomAD rs72667007, REVEL 0.38, ESM-1b 0.00, Pathogenic, in OI2
- G22R (p.Gly22Arg), rs72667007, ClinGen CA291552447, ClinVar RCV001291257, ClinVar RCV002543013, ESM-1b 1.00, AlphaMissense 0.34, Pathogenic, not provided; Osteogenesis imperfecta type I
- G22S (p.Gly22Ser), ExAC rs72667007, TOPMed rs72667007, gnomAD rs72667007, REVEL 0.35, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I
- G22V (p.Gly22Val), rs2509266853, ClinGen CA2695200277, ClinVar RCV004550628, ESM-1b 1.00, AlphaMissense 0.23, Likely pathogenic, COL1A1-related disorder
- Q23L (p.Gln23Leu), TOPMed rs936697325, REVEL 0.43, ESM-1b 0.65
- E24G (p.Glu24Gly), rs201920416, ClinGen CA8645882, ClinVar RCV002370833, ClinVar RCV003098498, REVEL 0.19, ESM-1b 0.00, Conflicting interpretations, Osteogenesis imperfecta type I; Cardiovascular phenotype
- E25* (p.Glu25Ter), rs2509266699, ClinGen CA400230229, ClinVar RCV003517959, Pathogenic
- E25K (p.Glu25Lys), rs2509266699, ClinGen CA400230233, ClinVar RCV002603198, REVEL 0.26, ESM-1b 1.00, Uncertain significance, Osteogenesis imperfecta type I
- G26D (p.Gly26Asp), rs151171179, ClinGen CA8645881, ClinVar RCV000786920, ClinVar RCV001091447, REVEL 0.55, ESM-1b 0.00, Conflicting interpretations, Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Car
- G26S (p.Gly26Ser), rs2144600278, ClinGen CA400230216, ClinVar RCV001909334, ClinVar RCV004996095, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Cardiovascular phenotype; Osteogenesis imperfecta type I
- Q27* (p.Gln27Ter), rs2509266618, ClinGen CA400230194, ClinVar RCV003518309, Pathogenic
- V28A (p.Val28Ala), Ensembl rs1374087811, ESM-1b 0.00, AlphaMissense 0.06
- V28I (p.Val28Ile), Ensembl rs2144600249, ESM-1b 0.00, AlphaMissense 0.08
- E29G (p.Glu29Gly), gnomAD rs1908085706, REVEL 0.15, ESM-1b 0.00
- E29K (p.Glu29Lys), rs1466255265, NCI-TCGA Cosmic COSV5680, TOPMed rs1466255265, gnomAD rs1466255265, REVEL 0.19, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- G30C (p.Gly30Cys), ExAC rs757451961, TOPMed rs757451961, gnomAD rs757451961, REVEL 0.25, ESM-1b 1.00
- G30R (p.Gly30Arg), ExAC rs757451961, TOPMed rs757451961, gnomAD rs757451961, REVEL 0.19, ESM-1b 0.87
- G30S (p.Gly30Ser), ExAC rs757451961, TOPMed rs757451961, gnomAD rs757451961, ESM-1b 0.00, AlphaMissense 0.08
- Q31* (p.Gln31Ter), rs794726873, ClinGen CA274894, ClinVar RCV000173063, ClinVar RCV001852105, Pathogenic
- D32E (p.Asp32Glu), rs1293214060, ClinGen CA400230091, ClinVar RCV003885251, TOPMed rs1293214060, REVEL 0.30, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; not provided
- E33* (p.Glu33Ter), NCI-TCGA Cosmic COSV9986, Variant assessed as somatic; high impact.
- E33G (p.Glu33Gly), TOPMed rs1908084003, gnomAD rs1908084003, REVEL 0.17, ESM-1b 0.00, Uncertain significance, not provided
- D34E (p.Asp34Glu), TOPMed rs1908083443, REVEL 0.25, ESM-1b 0.00
- D34V (p.Asp34Val), TOPMed rs1287910094, gnomAD rs1287910094, REVEL 0.31, ESM-1b 0.00
- P36A (p.Pro36Ala), rs2509259842, ClinGen CA400228719, ClinVar RCV002410979, ESM-1b 0.00, AlphaMissense 0.06, Uncertain significance, Cardiovascular phenotype
- P36L (p.Pro36Leu), gnomAD rs1198474319, REVEL 0.29, ESM-1b 0.00
- P36Q (p.Pro36Gln), gnomAD rs1198474319, REVEL 0.22, ESM-1b 0.00
- P37R (p.Pro37Arg), rs2144594835, ClinGen CA400228706, ClinVar RCV002006509, ClinVar RCV005804445, ESM-1b 0.23, AlphaMissense 0.10, Conflicting interpretations, Cardiovascular phenotype; Osteogenesis imperfecta type I
- I38V (p.Ile38Val), gnomAD rs1324365921, REVEL 0.17, ESM-1b 0.00
- T39I (p.Thr39Ile), gnomAD rs1489797657, REVEL 0.08, ESM-1b 0.43
- T39P (p.Thr39Pro), Ensembl rs1598302170, ESM-1b 0.00, AlphaMissense 0.12
- C40* (p.Cys40Ter), rs762780039, ClinGen CA400228674, ClinVar RCV000790420, ClinVar RCV003631162, Pathogenic
- V41I (p.Val41Ile), rs2144594757, ClinGen CA400228671, ClinVar RCV001917749, Ensembl rs2144594757, REVEL 0.07, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I
- V41L (p.Val41Leu), rs2144594757, ClinGen CA400228668, ClinVar RCV001998806, Ensembl rs2144594757, ESM-1b 0.00, AlphaMissense 0.11, Uncertain significance, Osteogenesis imperfecta type I
- Q42* (p.Gln42Ter), rs1223061614, ClinGen CA400228661, ClinVar RCV003518716, MutPred 0.48, Pathogenic
- Q42H (p.Gln42His), rs1555575436, ClinGen CA400228656, ClinVar RCV000631510, Ensembl rs1555575436, ESM-1b 0.00, AlphaMissense 0.26, Likely benign, Osteogenesis imperfecta type I
- Q42K (p.Gln42Lys), rs1223061614, ClinGen CA400228663, ClinVar RCV003152263, gnomAD rs1223061614, REVEL 0.17, ESM-1b 1.00, Uncertain significance, not provided
- Q42R (p.Gln42Arg), rs367643097, ClinGen CA8645826, ClinVar RCV000815235, ClinVar RCV004028845, REVEL 0.23, ESM-1b 1.00, Conflicting interpretations, not provided; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta
- N43D (p.Asn43Asp), gnomAD rs1281479790, REVEL 0.12, ESM-1b 0.00
- G44D (p.Gly44Asp), TOPMed rs936428628, gnomAD rs936428628, REVEL 0.64, ESM-1b 0.29, Uncertain significance, Osteogenesis imperfecta type I
- G44R (p.Gly44Arg), TOPMed rs1792053566, REVEL 0.77, ESM-1b 1.00
- L45V (p.Leu45Val), rs546629502, ClinGen CA8645825, ClinVar RCV001577889, ClinVar RCV002569095, REVEL 0.17, ESM-1b 0.00, Conflicting interpretations, not specified; not provided; Cardiovascular phenotype
- Y47* (p.Tyr47Ter), rs2509259501, ClinGen CA400228604, ClinVar RCV002467486, Likely pathogenic
- Y47C (p.Tyr47Cys), TOPMed rs1907936667, REVEL 0.54, ESM-1b 1.00
- Y47H (p.Tyr47His), TOPMed rs1373652132, gnomAD rs1373652132, REVEL 0.28, ESM-1b 0.94
- H48L (p.His48Leu), rs1273874412, ClinGen CA400228596, ClinVar RCV002297960, gnomAD rs1273874412, REVEL 0.10, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I
- H48Q (p.His48Gln), rs374065372, ClinGen CA8645823, ClinVar RCV000819589, ClinVar RCV001531431, REVEL 0.12, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Ehlers-Danlos syndrome; not provided
- H48R (p.His48Arg), rs1273874412, ClinGen CA400228597, ClinVar RCV001069144, gnomAD rs1273874412, REVEL 0.07, ESM-1b 0.00, Conflicting interpretations, not provided; Osteogenesis imperfecta type I
- H48Y (p.His48Tyr), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.11, Variant assessed as somatic; moderate impact.
- D49H (p.Asp49His), NCI-TCGA Cosmic COSV5680, ESM-1b 1.00, AlphaMissense 0.70, Variant assessed as somatic; moderate impact.
- D49N (p.Asp49Asn), NCI-TCGA Cosmic COSV5680, ESM-1b 0.00, AlphaMissense 0.16, Variant assessed as somatic; moderate impact.
- R50* (p.Arg50Ter), rs1555575425, ClinGen CA400228577, ClinVar RCV000598877, ClinVar RCV005420217, Pathogenic
- R50P (p.Arg50Pro), TOPMed rs1907935641, gnomAD rs1907935641, REVEL 0.23, ESM-1b 1.00
- R50Q (p.Arg50Gln), NCI-TCGA TCGA novel, TOPMed rs1907935641, gnomAD rs1907935641, REVEL 0.08, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- D51E (p.Asp51Glu), 1000Genomes rs533165364, ExAC rs533165364, gnomAD rs533165364, REVEL 0.16, ESM-1b 0.00, Likely benign, Cardiovascular phenotype
- D51G (p.Asp51Gly), TOPMed rs917540852, gnomAD rs917540852, REVEL 0.32, ESM-1b 1.00
- D51Y (p.Asp51Tyr), Ensembl rs945028295, ESM-1b 1.00, AlphaMissense 0.87
- V52A (p.Val52Ala), ExAC rs774838723, gnomAD rs774838723, REVEL 0.34, ESM-1b 1.00
- V52M (p.Val52Met), ExAC rs760300738, TOPMed rs760300738, gnomAD rs760300738, REVEL 0.34, ESM-1b 1.00
- W53* (p.Trp53Ter), rs2509259283, ClinGen CA400228546, ClinVar RCV003632078, ClinVar RCV004763745, Pathogenic
- K54N (p.Lys54Asn), Ensembl rs1598302103, ESM-1b 1.00, AlphaMissense 0.98
- P55H (p.Pro55His), rs771489142, ClinGen CA8645819, ClinVar RCV001233236, ClinVar RCV005367777, REVEL 0.71, ESM-1b 1.00, Uncertain significance, not provided; Osteogenesis imperfecta type I
- P55L (p.Pro55Leu), ExAC rs771489142, TOPMed rs771489142, gnomAD rs771489142, REVEL 0.73, ESM-1b 1.00, Uncertain significance
- P57A (p.Pro57Ala), rs773571012, ClinGen CA400228508, ClinVar RCV003517081, ExAC rs773571012, REVEL 0.20, ESM-1b 0.12, Likely benign, Osteogenesis imperfecta type I
- P57R (p.Pro57Arg), TOPMed rs1451346004, REVEL 0.17, ESM-1b 1.00
- P57S (p.Pro57Ser), rs773571012, ClinGen CA400228506, ClinVar RCV003011753, ExAC rs773571012, REVEL 0.19, ESM-1b 0.24, Uncertain significance, Osteogenesis imperfecta type I
- P57T (p.Pro57Thr), ExAC rs773571012, TOPMed rs773571012, gnomAD rs773571012, REVEL 0.25, ESM-1b 1.00, Likely benign, Osteogenesis imperfecta type I
- R59P (p.Arg59Pro), rs2144594400, ClinGen CA400228485, ClinVar RCV001995658, ClinVar RCV005601855, ESM-1b 1.00, AlphaMissense 0.98, Uncertain significance, not provided; Osteogenesis imperfecta type I
- I60F (p.Ile60Phe), rs544922468, ClinGen CA8645815, ClinVar RCV002286018, ClinVar RCV005096049, REVEL 0.43, ESM-1b 1.00, Conflicting interpretations, not provided; Osteogenesis imperfecta type I
- I60L (p.Ile60Leu), rs544922468, ClinGen CA400228481, ClinVar RCV002300040, ESM-1b 1.00, AlphaMissense 0.64, Uncertain significance, Osteogenesis imperfecta type I
- I60N (p.Ile60Asn), gnomAD rs1907931785, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Osteogenesis imperfecta type I
- I60R (p.Ile60Arg), rs2509259051, ClinGen CA2739268238, ClinVar RCV003631869, Pathogenic
- I60T (p.Ile60Thr), gnomAD rs1907931785, REVEL 0.44, ESM-1b 1.00, Uncertain significance, Osteogenesis imperfecta type I
- C61S (p.Cys61Ser), NCI-TCGA Cosmic COSV9986, Variant assessed as somatic; high impact.
- C61W (p.Cys61Trp), rs755126464, ClinGen CA400228457, ClinVar RCV001901289, ExAC rs755126464, ESM-1b 1.00, AlphaMissense 1.00, Pathogenic, Osteogenesis imperfecta type I
- V62I (p.Val62Ile), ESP rs146431113, ExAC rs146431113, gnomAD rs146431113, REVEL 0.07, ESM-1b 0.00
- C63* (p.Cys63Ter), rs779952705, ClinGen CA400228436, ClinVar RCV003064477, Pathogenic
- D64G (p.Asp64Gly), gnomAD rs1370920704, REVEL 0.48, ESM-1b 1.00
- D64V (p.Asp64Val), gnomAD rs1370920704, REVEL 0.48, ESM-1b 1.00
- N65K (p.Asn65Lys), rs1907930276, ClinGen CA400228402, ClinVar RCV001956036, Ensembl rs1907930276, ESM-1b 0.00, AlphaMissense 0.18, Uncertain significance, Osteogenesis imperfecta type I
- G66A (p.Gly66Ala), rs2509258018, ClinGen CA2580094604, ClinVar RCV002862361, Pathogenic
- G66C (p.Gly66Cys), rs1240249424, ClinGen CA400228400, ClinVar RCV003517941, ESM-1b 1.00, AlphaMissense 0.97, Uncertain significance, Osteogenesis imperfecta type I
- G66R (p.Gly66Arg), rs1240249424, ClinGen CA400228398, ClinVar RCV002423465, REVEL 0.76, ESM-1b 1.00, Uncertain significance, Cardiovascular phenotype
- G66S (p.Gly66Ser), rs1240249424, ClinGen CA400228395, ClinVar RCV001879379, gnomAD rs1240249424, REVEL 0.69, ESM-1b 0.31, Uncertain significance, Osteogenesis imperfecta type I
- K67N (p.Lys67Asn), ExAC rs750319767, TOPMed rs750319767, gnomAD rs750319767, REVEL 0.11, ESM-1b 0.00, Likely benign
- K67R (p.Lys67Arg), rs758395597, ClinGen CA8645810, ClinVar RCV003518038, ClinVar RCV004723355, REVEL 0.04, ESM-1b 0.00, Conflicting interpretations, Osteogenesis imperfecta type I; not provided
- K67T (p.Lys67Thr), ExAC rs758395597, TOPMed rs758395597, gnomAD rs758395597, REVEL 0.07, ESM-1b 0.00, Benign
- C70* (p.Cys70Ter), rs2144594178, ClinGen CA400228324, ClinVar RCV001780529, ClinVar RCV003631225, Pathogenic
- C70Y (p.Cys70Tyr), rs1221233834, ClinGen CA400228332, ClinVar RCV001754998, gnomAD rs1221233834, REVEL 0.89, ESM-1b 1.00, Uncertain significance, not provided
- D71N (p.Asp71Asn), Ensembl rs937925262, ESM-1b 1.00, AlphaMissense 0.88
- D72G (p.Asp72Gly), gnomAD rs1285530026, REVEL 0.13, ESM-1b 1.00, Likely benign, Osteogenesis imperfecta type I
- V73M (p.Val73Met), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.67, Variant assessed as somatic; moderate impact.
- C75F (p.Cys75Phe), rs2509258682, ClinGen CA400228248, ClinVar RCV002823739, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Osteogenesis imperfecta type I
- D76E (p.Asp76Glu), rs1314366641, ClinGen CA400228231, ClinVar RCV000535747, TOPMed rs1314366641, REVEL 0.08, ESM-1b 0.00, Uncertain significance, not provided; Osteogenesis imperfecta type I
- E77* (p.Glu77Ter), rs753683126, ClinGen CA400228227, NCI-TCGA Cosmic COSV5680, ClinVar RCV000631479, MutPred 0.45, Pathogenic
- E77K (p.Glu77Lys), rs753683126, ClinGen CA8645806, ClinVar RCV000278484, ClinVar RCV000323135, REVEL 0.13, ESM-1b 1.00, Conflicting interpretations, Osteogenesis imperfecta type I; Infantile cortical hyperostosis; Ehlers-Danlos s
- T78S (p.Thr78Ser), Ensembl rs1214053621, REVEL 0.06, ESM-1b 0.00
- K79T (p.Lys79Thr), TOPMed rs1260707253, ESM-1b 0.00, AlphaMissense 0.10
- N80S (p.Asn80Ser), NCI-TCGA TCGA novel, REVEL 0.18, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- P82R (p.Pro82Arg), Ensembl rs1488916689, ESM-1b 1.00, AlphaMissense 0.09
- P82T (p.Pro82Thr), TOPMed rs1907925941, ESM-1b 0.38, AlphaMissense 0.07
- G83S (p.Gly83Ser), rs763855013, ClinGen CA8645805, ClinVar RCV001325564, ClinVar RCV004738251, REVEL 0.07, ESM-1b 0.00, Conflicting interpretations, Cardiovascular phenotype; Osteogenesis imperfecta type I
- A84D (p.Ala84Asp), ExAC rs775095655, TOPMed rs775095655, gnomAD rs775095655, REVEL 0.20, ESM-1b 0.38, Likely benign
- A84G (p.Ala84Gly), rs775095655, ClinGen CA8645804, ClinVar RCV000631478, ClinVar RCV001128044, REVEL 0.20, ESM-1b 0.99, Conflicting interpretations, Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Cardiovascular
- A84V (p.Ala84Val), ExAC rs775095655, TOPMed rs775095655, gnomAD rs775095655, REVEL 0.19, ESM-1b 0.00, Likely benign
- A84T (p.Ala84Thr), rs936697325, []
- E85K (p.Glu85Lys), rs1175987778, gnomAD rs1175987778, REVEL 0.11, ESM-1b 0.09, Variant assessed as somatic; moderate impact.
- E85R (p.Glu85Arg), rs2509258453, ClinGen CA2580094608, ClinVar RCV002982165, Pathogenic
- E85V (p.Glu85Val), ExAC rs766870668, REVEL 0.15, ESM-1b 0.00
- V86D (p.Val86Asp), gnomAD rs1468398211, REVEL 0.20, ESM-1b 1.00
- P87L (p.Pro87Leu), rs926503489, ClinGen CA291551073, ClinVar RCV000810189, ClinVar RCV003736908, REVEL 0.18, ESM-1b 1.00, Uncertain significance, not provided; Osteogenesis imperfecta type I
- P87S (p.Pro87Ser), ESP rs143980299, TOPMed rs143980299, REVEL 0.18, ESM-1b 1.00, Uncertain significance, Osteogenesis imperfecta type I
- E88* (p.Glu88Ter), rs1555575370, ClinGen CA400228115, ClinVar RCV000578718, ClinVar RCV000802325, Pathogenic
- E88K (p.Glu88Lys), NCI-TCGA Cosmic COSV5680, ESM-1b 0.95, AlphaMissense 0.08, Uncertain significance, Osteogenesis imperfecta type I
- G89D (p.Gly89Asp), rs770277944, ExAC rs770277944, gnomAD rs770277944, REVEL 0.19, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E90* (p.Glu90Ter), rs748550422, ClinGen CA400228096, ClinVar RCV001956530, ExAC rs748550422, MutPred 0.45, Pathogenic
- E90K (p.Glu90Lys), rs748550422, NCI-TCGA Cosmic COSV9986, ExAC rs748550422, gnomAD rs748550422, REVEL 0.57, ESM-1b 1.00, Pathogenic
- E90R (p.Glu90Arg), rs2509258309, ClinGen CA2739268234, ClinVar RCV003631774, Pathogenic
- C91G (p.Cys91Gly), gnomAD rs1188138154, REVEL 0.86, ESM-1b 1.00
- C91Y (p.Cys91Tyr), rs2509258243, ClinGen CA400228079, ClinVar RCV003516888, ESM-1b 1.00, AlphaMissense 0.99, Uncertain significance, Osteogenesis imperfecta type I
- C92* (p.Cys92Ter), rs1907921633, ClinGen CA400228065, ClinVar RCV001042084, Ensembl rs1907921633, Pathogenic
- P93R (p.Pro93Arg), rs2509258201, ClinGen CA400228058, ClinVar RCV003518682, REVEL 0.58, ESM-1b 1.00, Uncertain significance, Osteogenesis imperfecta type I
- P93T (p.Pro93Thr), rs886042456, ClinGen CA10604269, ClinVar RCV000293998, TOPMed rs886042456, REVEL 0.35, ESM-1b 1.00, Uncertain significance, not provided
- V94I (p.Val94Ile), ExAC rs768947449, gnomAD rs768947449, REVEL 0.07, ESM-1b 0.00, Likely benign, Osteogenesis imperfecta type I
- C95F (p.Cys95Phe), Ensembl rs767148176, ESM-1b 1.00, AlphaMissense 0.93
- C95Y (p.Cys95Tyr), NCI-TCGA Cosmic COSV5680, REVEL 0.89, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- P96A (p.Pro96Ala), NCI-TCGA Cosmic COSV9986, REVEL 0.19, ESM-1b 0.32, Variant assessed as somatic; moderate impact.
- P96L (p.Pro96Leu), rs747163212, ClinGen CA8645795, ClinVar RCV001210575, ClinVar RCV003317451, REVEL 0.24, ESM-1b 0.84, Uncertain significance, Osteogenesis imperfecta type I; not provided; Cardiovascular phenotype
- P96R (p.Pro96Arg), ExAC rs747163212, TOPMed rs747163212, gnomAD rs747163212, REVEL 0.23, ESM-1b 1.00, Uncertain significance
- D97A (p.Asp97Ala), ExAC rs758351823, gnomAD rs758351823, REVEL 0.07, ESM-1b 0.00, Uncertain significance
- D97G (p.Asp97Gly), rs758351823, ClinGen CA8645793, ClinVar RCV001245549, ClinVar RCV004590276, REVEL 0.07, ESM-1b 0.00, Conflicting interpretations, Osteogenesis imperfecta type I; not provided
- D97N (p.Asp97Asn), ExAC rs780190493, gnomAD rs780190493, REVEL 0.06, ESM-1b 0.00
- G98S (p.Gly98Ser), TOPMed rs1234510564, gnomAD rs1234510564, REVEL 0.16, ESM-1b 0.00
- S99P (p.Ser99Pro), Ensembl rs1907919057, ESM-1b 0.00, AlphaMissense 0.07
- E100* (p.Glu100Ter), rs2144593675, ClinGen CA400227994, ClinVar RCV002266131, Ensembl rs2144593675, Likely pathogenic
- E100G (p.Glu100Gly), Ensembl rs1907891598, REVEL 0.22, ESM-1b 0.00
- P102H (p.Pro102His), NCI-TCGA Cosmic COSV5680, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- P102S (p.Pro102Ser), TOPMed rs1907891057, REVEL 0.24, ESM-1b 0.00
- T103A (p.Thr103Ala), Ensembl rs1907890849, ESM-1b 0.00, AlphaMissense 0.05
- T103I (p.Thr103Ile), rs369883704, ClinGen CA16040314, ClinVar RCV000792473, ESP rs369883704, REVEL 0.22, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I
- T103S (p.Thr103Ser), ESP rs369883704, TOPMed rs369883704, gnomAD rs369883704, REVEL 0.15, ESM-1b 0.00, Uncertain significance
- D104E (p.Asp104Glu), ESP rs375517119, ExAC rs375517119, TOPMed rs375517119, gnomAD rs375517119, REVEL 0.23, ESM-1b 0.00
- D104H (p.Asp104His), TOPMed rs1262285067, ESM-1b 0.00, AlphaMissense 0.13, Uncertain significance
- D104N (p.Asp104Asn), rs1262285067, ClinGen CA400227915, ClinVar RCV003872671, TOPMed rs1262285067, ESM-1b 0.00, AlphaMissense 0.07, Uncertain significance, Osteogenesis imperfecta type I
- Q105* (p.Gln105Ter), rs2509256204, ClinGen CA400227899, ClinVar RCV003044639, ClinVar RCV003138459, Pathogenic
- Q105P (p.Gln105Pro), Ensembl rs1212230070, ESM-1b 0.00, AlphaMissense 0.06
- E106* (p.Glu106Ter), rs2144592516, ClinGen CA400227884, ClinVar RCV002225154, Ensembl rs2144592516, Pathogenic
- T108N (p.Thr108Asn), rs2509256132, ClinGen CA923726086, ClinVar RCV002472216, Pathogenic
- T108I (p.Thr108Ile), rs765837515, ClinGen CA8645759, ClinVar RCV001570925, ClinVar RCV003631206, REVEL 0.21, ESM-1b 0.00, Likely benign, not provided; Osteogenesis imperfecta type I
- G109D (p.Gly109Asp), rs372159426, ClinGen CA8645757, ClinVar RCV001920830, ClinVar RCV002276929, REVEL 0.78, ESM-1b 0.00, Conflicting interpretations, not provided; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome
- G109R (p.Gly109Arg), rs762315953, ClinGen CA8645758, ClinVar RCV000871724, ClinVar RCV001400552, REVEL 0.74, ESM-1b 0.26, Conflicting interpretations, Cardiovascular phenotype; not specified; Osteogenesis imperfecta type I
- G109S (p.Gly109Ser), rs762315953, ClinGen CA291550745, ClinVar RCV002014812, ClinVar RCV003225208, REVEL 0.69, ESM-1b 0.00, Uncertain significance, Osteogenesis imperfecta type I; not provided
Public COL1A1 analysis runs
- COL1A1 analysis run — COL1A1 (2,483 variants) — completed 2026-05-15