Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001844.4(COL2A1):c.4316C>T (p.Thr1439Met) | 1280 | COL2A1 | Likely pathogenic;Pathogenic | 121912886 | RCV000018928; RCV000190574; | N | MedGen:C0038015,OMIM:183900,ORPHA:253; MedGen:C0796173,OMIM:271700,ORPHA:1856 | 12 | 48367873 | 48367873 | NM_001844.4:c.4316C>T | NP_001835.3:p.Thr1439Met | NC_000012.11:g.48367873G>A | OMIM Allelic Variant:120140.0035 | C0038015 183900 Spondyloepiphyseal dysplasia congenita; C0796173 271700 Spondyloperipheral dysplasia | | |
NM_001844.4(COL2A1):c.3490_3597del108 | 1280 | COL2A1 | Pathogenic | -1 | RCV000018894; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48369744 | 48370134 | NM_001844.4:c.3490_3597del108 | | | OMIM Allelic Variant:120140.0001 | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.3589G>A (p.Gly1197Ser) | 1280 | COL2A1 | Pathogenic | 121912870 | RCV000018905; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48369754 | 48369754 | NM_001844.4:c.3589G>A | NP_001835.3:p.Gly1197Ser | NC_000012.11:g.48369754C>T | OMIM Allelic Variant:120140.0011 | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.3517G>C (p.Gly1173Arg) | 1280 | COL2A1 | Pathogenic | 121912883 | RCV000018924; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48369826 | 48369826 | NM_001844.4:c.3517G>C | NP_001835.3:p.Gly1173Arg | NC_000012.11:g.48369826C>G | OMIM Allelic Variant:120140.0031 | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.3301G>A (p.Gly1101Arg) | 1280 | COL2A1 | Pathogenic | 864621973 | RCV000205306; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48370911 | 48370911 | NM_001844.4:c.3301G>A | NP_001835.3:p.Gly1101Arg | NC_000012.11:g.48370911C>T | - | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.3275G>A (p.Gly1092Asp) | 1280 | COL2A1 | Likely pathogenic | 794727684 | RCV000178624; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48370937 | 48370937 | NM_001844.4:c.3275G>A | NP_001835.3:p.Gly1092Asp | NC_000012.11:g.48370937C>T | - | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.2965C>T (p.Arg989Cys) | 1280 | COL2A1 | Pathogenic | 121912874 | RCV000018910; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48372112 | 48372112 | NM_001844.4:c.2965C>T | NP_001835.3:p.Arg989Cys | NC_000012.11:g.48372112G>A | OMIM Allelic Variant:120140.0016 | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.1510G>A (p.Gly504Ser) | 1280 | COL2A1 | Pathogenic | 121912880 | RCV000176384; RCV000176385; | N | MedGen:C0038015,OMIM:183900,ORPHA:253; MedGen:C0700635,OMIM:184250,ORPHA:93346 | 12 | 48380136 | 48380136 | NM_001844.4:c.1510G>A | NP_001835.3:p.Gly504Ser | NC_000012.11:g.48380136C>A,NC_000012.11:g.48380136C>T | - | C0700635 184250 Spondyloepimetaphyseal dysplasia Strudwick type; C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |
NM_001844.4(COL2A1):c.1358G>C (p.Gly453Ala) | 1280 | COL2A1 | Pathogenic | 794727339 | RCV000176186; | N | MedGen:C0038015,OMIM:183900,ORPHA:253 | 12 | 48380868 | 48380868 | NM_001844.4:c.1358G>C | NP_001835.3:p.Gly453Ala | NC_000012.11:g.48380868C>G | - | C0038015 183900 Spondyloepiphyseal dysplasia congenita | | |