Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001457.3(FLNB):c.602C>T (p.Ala201Val) | 2317 | FLNB | Pathogenic | 80356499 | RCV000020456; | N | MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58064504 | 58064504 | NM_001457.3:c.602C>T | NP_001448.2:p.Ala201Val | NC_000003.11:g.58064504C>T | - | C3668942 108721 Atelosteogenesis type 3 | | |
NM_001457.3(FLNB):c.604A>G (p.Met202Val) | 2317 | FLNB | Pathogenic | 121908895 | RCV000006771; RCV000006772; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190; MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58064506 | 58064506 | NM_001457.3:c.604A>G | NP_001448.2:p.Met202Val | NC_000003.11:g.58064506A>G | OMIM Allelic Variant:603381.0007 | C0265283 108720 Atelosteogenesis type 1; C3668942 108721 Atelosteogenesis type 3 | | |
NM_001457.3(FLNB):c.629G>T (p.Gly210Val) | 2317 | FLNB | Pathogenic | 80356500 | RCV000020458; | N | MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58064531 | 58064531 | NM_001457.3:c.629G>T | NP_001448.2:p.Gly210Val | NC_000003.11:g.58064531G>T | - | C3668942 108721 Atelosteogenesis type 3 | | |
NM_001457.3(FLNB):c.2251G>C (p.Gly751Arg) | 2317 | FLNB | Pathogenic | 28937587 | RCV000006773; | N | MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58095354 | 58095354 | NM_001457.3:c.2251G>C | NP_001448.2:p.Gly751Arg | NC_000003.11:g.58095354G>C | OMIM Allelic Variant:603381.0008 | C3668942 108721 Atelosteogenesis type 3 | | |
NM_001457.3(FLNB):c.4804T>C (p.Ser1602Pro) | 2317 | FLNB | Pathogenic | 80356501 | RCV000020449; | N | MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58121838 | 58121838 | NM_001457.3:c.4804T>C | NP_001448.2:p.Ser1602Pro | NC_000003.11:g.58121838T>C | - | C3668942 108721 Atelosteogenesis type 3 | | |
NM_001457.3(FLNB):c.4927G>T (p.Ala1643Ser) | 2317 | FLNB | Pathogenic | 80356502 | RCV000020451; | N | MedGen:C3668942,OMIM:108721, Orphanet:ORPHA56305 | 3 | 58124074 | 58124074 | NM_001457.3:c.4927G>T | NP_001448.2:p.Ala1643Ser | NC_000003.11:g.58124074G>T | - | C3668942 108721 Atelosteogenesis type 3 | | |