Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) | 2200 | FBN1 | Likely pathogenic;Pathogenic | 267606798 | RCV000035211; RCV000017937; | N | MedGen:C0024796,OMIM:154700, Orphanet:ORPHA558,SNOMED CT:19346006; MedGen:C1861456,OMIM:184900 | 15 | 48758022 | 48758022 | NM_000138.4:c.4781G>A | NP_000129.3:p.Gly1594Asp | NC_000015.9:g.48758022C>T | OMIM Allelic Variant:134797.0054 | C0024796 154700 Marfan syndrome; C1861456 184900 Stiff skin syndrome | | |
NM_000138.4(FBN1):c.4729T>G (p.Cys1577Gly) | 2200 | FBN1 | Pathogenic | 267606801 | RCV000017936; | N | MedGen:C1861456,OMIM:184900 | 15 | 48760153 | 48760153 | NM_000138.4:c.4729T>G | NP_000129.3:p.Cys1577Gly | NC_000015.9:g.48760153A>C | OMIM Allelic Variant:134797.0053 | C1861456 184900 Stiff skin syndrome | | |
NM_000138.4(FBN1):c.4710G>T (p.Trp1570Cys) | 2200 | FBN1 | Pathogenic | 267606799 | RCV000017933; | N | MedGen:C1861456,OMIM:184900 | 15 | 48760172 | 48760172 | NM_000138.4:c.4710G>T | NP_000129.3:p.Trp1570Cys | NC_000015.9:g.48760172C>A,NC_000015.9:g.48760172C>G | OMIM Allelic Variant:134797.0050 | C1861456 184900 Stiff skin syndrome | | |
NM_000138.4(FBN1):c.4710G>C (p.Trp1570Cys) | 2200 | FBN1 | Pathogenic | 267606799 | RCV000017934; | N | MedGen:C1861456,OMIM:184900 | 15 | 48760172 | 48760172 | NM_000138.4:c.4710G>C | NP_000129.3:p.Trp1570Cys | NC_000015.9:g.48760172C>A,NC_000015.9:g.48760172C>G | OMIM Allelic Variant:134797.0051 | C1861456 184900 Stiff skin syndrome | | |
NM_000138.4(FBN1):c.4691G>C (p.Cys1564Ser) | 2200 | FBN1 | Pathogenic | 267606800 | RCV000017935; | N | MedGen:C1861456,OMIM:184900 | 15 | 48760191 | 48760191 | NM_000138.4:c.4691G>C | NP_000129.3:p.Cys1564Ser | NC_000015.9:g.48760191C>G | OMIM Allelic Variant:134797.0052 | C1861456 184900 Stiff skin syndrome | | |