Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000142.4(FGFR3):c.835A>T (p.Ser279Cys) | 2261 | FGFR3 | Pathogenic | 121913114 | RCV000017766; RCV000017767; | N | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0410529,OMIM:146000,ORPHA:429,SNOMED CT:205468002 | 4 | 1803657 | 1803657 | NM_000142.4:c.835A>T | NP_000133.1:p.Ser279Cys | NC_000004.11:g.1803657A>T | OMIM Allelic Variant:134934.0030 | C0001080 100800 Achondroplasia; C0410529 146000 Hypochondroplasia | | |
NM_000142.4(FGFR3):c.1123G>T (p.Gly375Cys) | 2261 | FGFR3 | Pathogenic | 75790268 | RCV000017727; | Y | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005 | 4 | 1806104 | 1806104 | NM_000142.4:c.1123G>T | NP_000133.1:p.Gly375Cys | NC_000004.11:g.1806104G>T | OMIM Allelic Variant:134934.0003 | C0001080 100800 Achondroplasia | | |
NM_000142.4(FGFR3):c.1130T>G (p.Leu377Arg) | 2261 | FGFR3 | Pathogenic | 267606809 | RCV000017763; | N | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005 | 4 | 1806111 | 1806111 | NM_000142.4:c.1130T>G | NP_000133.1:p.Leu377Arg | NC_000004.11:g.1806111T>G | OMIM Allelic Variant:134934.0027 | C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency | | |
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) | 2261 | FGFR3 | Pathogenic | 28931614 | RCV000017724; RCV000029207; RCV000017763; | Y | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003 | 4 | 1806119 | 1806119 | NM_000142.4:c.1138G>A | NP_000133.1:p.Gly380Arg | NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C | OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027 | C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency | | |
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) | 2261 | FGFR3 | Pathogenic | 28931614 | RCV000017724; RCV000029207; RCV000017763; | Y | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005; MedGen:C0334082,OMIM:162900,ORPHA:35125,SNOMED CT:25201003 | 4 | 1806119 | 1806119 | NM_000142.4:c.1138G>A | NP_000133.1:p.Gly380Arg | NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C | OMIM Allelic Variant:134934.0001,OMIM Allelic Variant:134934.0027 | C0001080 100800 Achondroplasia; C0334082 162900 Epidermal nevus; C1838979 252010 Mitochondrial complex I deficiency | | |
NM_000142.4(FGFR3):c.1138G>C (p.Gly380Arg) | 2261 | FGFR3 | Pathogenic | 28931614 | RCV000017725; | Y | MedGen:C0001080,OMIM:100800,ORPHA:15,SNOMED CT:86268005 | 4 | 1806119 | 1806119 | NM_000142.4:c.1138G>C | NP_000133.1:p.Gly380Arg | NC_000004.11:g.1806119G>A,NC_000004.11:g.1806119G>C | OMIM Allelic Variant:134934.0002 | C0001080 100800 Achondroplasia | | |