Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000088.3(COL1A1):c.4358_4362delAATTC (p.Glu1453Glyfs) | 1277 | COL1A1 | Pathogenic | 72656352 | RCV000018848; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48262896 | 48262900 | NM_000088.3:c.4358_4362delAATTC | NP_000079.2:p.Glu1453Glyfs | NC_000017.10:g.48262896_48262900delGAATT | OMIM Allelic Variant:120150.0024 | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.3421C>T (p.Arg1141Ter) | 1277 | COL1A1 | Pathogenic | 72656314 | RCV000018878; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48264847 | 48264847 | NM_000088.3:c.3421C>T | NP_000079.2:p.Arg1141Ter | NC_000017.10:g.48264847G>A | OMIM Allelic Variant:120150.0055 | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) | 1277 | COL1A1 | Pathogenic | 72654802 | RCV000018863; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48265483 | 48265483 | NM_000088.3:c.3235G>A | NP_000079.2:p.Gly1079Ser | NC_000017.10:g.48265483C>T | OMIM Allelic Variant:120150.0040 | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.2866G>A (p.Gly956Arg) | 1277 | COL1A1 | Likely pathogenic | 797045033 | RCV000191071; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48266600 | 48266600 | NM_000088.3:c.2866G>A | NP_000079.2:p.Gly956Arg | NC_000017.10:g.48266600C>T | - | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.1066G>T (p.Gly356Cys) | 1277 | COL1A1 | Pathogenic | 72645365 | RCV000018850; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48273017 | 48273017 | NM_000088.3:c.1066G>T | NP_000079.2:p.Gly356Cys | NC_000017.10:g.48273017C>A | OMIM Allelic Variant:120150.0028 | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.814G>T (p.Gly272Cys) | 1277 | COL1A1 | Pathogenic | 72645331 | RCV000018826; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004 | 17 | 48274022 | 48274022 | NM_000088.3:c.814G>T | NP_000079.2:p.Gly272Cys | NC_000017.10:g.48274022C>A | OMIM Allelic Variant:120150.0002 | C0023931 166200 Osteogenesis imperfecta type I | | |
NM_000088.3(COL1A1):c.91C>T (p.Gln31Ter) | 1277 | COL1A1 | Pathogenic | 794726873 | RCV000173063; RCV000173062; | N | MedGen:C0023931,OMIM:166200,SNOMED CT:385482004; MedGen:C0268363,OMIM:166220,SNOMED CT:205497004 | 17 | 48278784 | 48278784 | NM_000088.3:c.91C>T | NP_000079.2:p.Gln31Ter | NC_000017.10:g.48278784G>A | - | C0023931 166200 Osteogenesis imperfecta type I; C0268363 166220 Osteogenesis imperfecta with normal sclerae, dominant form | | |