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.442T>A (p.Trp148Arg) | 2317 | FLNB | Pathogenic | 80356493 | RCV000020445; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58062922 | 58062922 | NM_001457.3:c.442T>A | NP_001448.2:p.Trp148Arg | NC_000003.11:g.58062922T>A | - | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.512T>A (p.Leu171Gln) | 2317 | FLNB | Pathogenic | 80356494 | RCV000020452; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58062992 | 58062992 | NM_001457.3:c.512T>A | NP_001448.2:p.Leu171Gln | NC_000003.11:g.58062992T>A,NC_000003.11:g.58062992T>G | - | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.517G>A (p.Ala173Thr) | 2317 | FLNB | Pathogenic | 587777259 | RCV000114316; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58062997 | 58062997 | NM_001457.3:c.517G>A | NP_001448.2:p.Ala173Thr | 3:g.58062997G>A | OMIM Allelic Variant:603381.0015 | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.518C>T (p.Ala173Val) | 2317 | FLNB | Pathogenic | 121908894 | RCV000006770; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58062998 | 58062998 | NM_001457.3:c.518C>T | NP_001448.2:p.Ala173Val | NC_000003.11:g.58062998C>T | OMIM Allelic Variant:603381.0006 | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.542G>T (p.Gly181Val) | 2317 | FLNB | Pathogenic | 80356495 | RCV000020453; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58064444 | 58064444 | NM_001457.3:c.542G>T | NP_001448.2:p.Gly181Val | NC_000003.11:g.58064444G>T | - | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.549C>G (p.Cys183Trp) | 2317 | FLNB | Pathogenic | 80356496 | RCV000020454; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58064451 | 58064451 | NM_001457.3:c.549C>G | NP_001448.2:p.Cys183Trp | NC_000003.11:g.58064451C>G | - | C0265283 108720 Atelosteogenesis type 1 | | |
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.608A>C (p.Gln203Pro) | 2317 | FLNB | Pathogenic | 80356497 | RCV000020457; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58064510 | 58064510 | NM_001457.3:c.608A>C | NP_001448.2:p.Gln203Pro | NC_000003.11:g.58064510A>C | - | C0265283 108720 Atelosteogenesis type 1 | | |
NM_001457.3(FLNB):c.4747_4749delGAC (p.Asp1583del) | 2317 | FLNB | Pathogenic | 80356498 | RCV000020447; | N | MedGen:C0265283,OMIM:108720, Orphanet:ORPHA1190 | 3 | 58121781 | 58121783 | NM_001457.3:c.4747_4749delGAC | NP_001448.2:p.Asp1583del | NC_000003.11:g.58121781_58121783delGAC | - | C0265283 108720 Atelosteogenesis type 1 | | |