Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) | 2200 | FBN1 | Likely pathogenic | 1597583989 | RCV000989335|RCV001805957|RCV001858706; | N | MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orp | 15 | 48812873 | 48812873 | | | 15:g.48812873C>T | - | | |
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) | 2261 | FGFR3 | Pathogenic/Likely pathogenic | 121913116 | RCV000017769|RCV000850610|RCV001334259|RCV002513086; | N | MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|9 conditions|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:CN517202 | 4 | 1801122 | 1801122 | | | 4:g.1801122C>T | ClinGen:CA341425,OMIM:134934.0032 | C0410529 146000 Hypochondroplasia; | |
NM_000142.5(FGFR3):c.616-6G>A | 2261 | FGFR3 | Conflicting interpretations of pathogenicity | 17883400 | RCV000245965|RCV000960660|RCV001334260; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1803341 | 1803341 | | | 4:g.1803341G>A | ClinGen:CA2809904 | CN169374 not specified; | |
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) | 2261 | FGFR3 | Pathogenic/Likely pathogenic | 121913114 | RCV000017766|RCV000017767|RCV000730955; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MedGen:CN517202 | 4 | 1803657 | 1803657 | | | 4:g.1803657A>T | ClinGen:CA280224,OMIM:134934.0030 | C0001080 100800 Achondroplasia; | |
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) | 2261 | FGFR3 | Uncertain significance | 1721503041 | RCV002241477|RCV002286827; | N | MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1805477 | 1805477 | | | 4:g.1805477C>T | - | | |
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) | 2261 | FGFR3 | Conflicting interpretations of pathogenicity | -1 | RCV002651792|RCV003404135; | N | MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1805519 | 1805519 | | | NC_000004.11:g.1805519C>G | - | | |
NM_000142.5(FGFR3):c.1075+95C>G | 2261 | FGFR3 | Pathogenic | -1 | RCV003444541; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15; MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429 | 4 | 1805658 | 1805658 | | | | - | | |
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) | 2261 | FGFR3 | Pathogenic | 75790268 | RCV000017727|RCV002228031; | Y | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:C3661900 | 4 | 1806104 | 1806104 | | | 4:g.1806104G>T | UniProtKB:P22607#VAR_004154,OMIM:134934.0003,ClinGen:CA280219 | C0001080 100800 Achondroplasia; | |
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) | 2261 | FGFR3 | Pathogenic | 28931614 | RCV000017724|RCV000029207|RCV000255750|RCV000763121|RCV001266979|RCV001731310|RCV001807732|RCV002276551|RCV003227605|RCV003335043; | Y | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900, Orphanet:79414|MedGen:C3661900|14 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0007793 | 4 | 1806119 | 1806119 | | | 4:g.1806119G>A | ClinVar:441276,ClinGen:CA129944,UniProtKB:P22607#VAR_004155,OMIM:134934.0001,OMIM:134934.0027 | C0001080 100800 Achondroplasia; | |
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) | 2261 | FGFR3 | Pathogenic | 28931614 | RCV000017725|RCV000727147|RCV000987394; | Y | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:C3661900|MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429 | 4 | 1806119 | 1806119 | | | 4:g.1806119G>C | ClinGen:CA280218,UniProtKB:P22607#VAR_004155,OMIM:134934.0002 | C0001080 100800 Achondroplasia; | |
NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) | 2261 | FGFR3 | Likely pathogenic | 1360936268 | RCV001806350; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1806125 | 1806125 | | | 1806125 | - | | |
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) | 2261 | FGFR3 | Likely pathogenic | 2108797528 | RCV002227915; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1806164 | 1806164 | | | 1806164 | - | | |
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) | 2261 | FGFR3 | Uncertain significance | 761325047 | RCV000709871|RCV002532897; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15; MONDO:MONDO:0012504,MedGen:C1864852,OMIM:610474, Orphanet:85164; MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429; MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730, Orphanet:2363; MONDO | 4 | 1806615 | 1806615 | | | NC_000004.11:g.1806615C>T | - | | |
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) | 2261 | FGFR3 | Uncertain significance | 1721801068 | RCV001253746; | N | MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15 | 4 | 1807357 | 1807357 | | | 4:g.1807357A>G | - | | |
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) | 2261 | FGFR3 | Conflicting interpretations of pathogenicity | 77722678 | RCV000017758|RCV000623459|RCV001269614|RCV002262566|RCV002273934; | Y | MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0012758,MedGen:C4022738 | 4 | 1807370 | 1807370 | | | 4:g.1807370A>G | ClinGen:CA341420,UniProtKB:P22607#VAR_018389,OMIM:134934.0023 | C0410529 146000 Hypochondroplasia; | |
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) | 2261 | FGFR3 | Pathogenic | 28933068 | RCV000017740|RCV000255928|RCV000353403|RCV002273932; | Y | MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0012758,MedGen:C4022738 | 4 | 1807371 | 1807371 | | | 4:g.1807371C>A | ClinVar:441277,ClinGen:CA341410,UniProtKB:P22607#VAR_004158,OMIM:134934.0010,OMIM:134934.0034 | C0001080 100800 Achondroplasia; | |