Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001193301.1(SEMA4A):c.1033G>C (p.Asp345His) | 64218 | SEMA4A | Pathogenic | 267607033 | RCV000003524; RCV000003525; | N | MedGen:C1846529,OMIM:610283; MedGen:C1853214,OMIM:610282 | 1 | 156132784 | 156132784 | NM_001193301.1:c.1033G>C | NP_001180230.1:p.Asp345His | NC_000001.10:g.156132784G>C | OMIM Allelic Variant:607292.0001 | C1846529 610283 Cone-rod dystrophy 10; C1853214 610282 Retinitis pigmentosa 35 | | |
NM_001193301.1(SEMA4A):c.1049T>G (p.Phe350Cys) | 64218 | SEMA4A | Pathogenic | 267607034 | RCV000003526; RCV000003527; | N | MedGen:C1846529,OMIM:610283; MedGen:C1853214,OMIM:610282 | 1 | 156132800 | 156132800 | NM_001193301.1:c.1049T>G | NP_001180230.1:p.Phe350Cys | NC_000001.10:g.156132800T>G | OMIM Allelic Variant:607292.0002 | C1846529 610283 Cone-rod dystrophy 10; C1853214 610282 Retinitis pigmentosa 35 | | |
NM_001193301.1(SEMA4A):c.2138G>A (p.Arg713Gln) | 64218 | SEMA4A | Benign;Pathogenic | 41265017 | RCV000003528; RCV000174949; | N | MedGen:C1853214,OMIM:610282; MedGen:CN169374 | 1 | 156146640 | 156146640 | NM_001193301.1:c.2138G>A | NP_001180230.1:p.Arg713Gln | NC_000001.10:g.156146640G>A | OMIM Allelic Variant:607292.0003 | CN169374 not specified; C1853214 610282 Retinitis pigmentosa 35 | | |