Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_207346.2(TSEN54):c.277T>C (p.Ser93Pro) | 283989 | TSEN54 | Pathogenic | 113994151 | RCV000002203; RCV000031854; | N | MedGen:C1856974,OMIM:225753,ORPHA:166063 | 17 | 73513145 | 73513145 | NM_207346.2:c.277T>C | NP_997229.2:p.Ser93Pro | NC_000017.10:g.73513145T>C | OMIM Allelic Variant:608755.0002 | C1859341 Olivopontocerebellar hypoplasia; C1848526 277470 Pontocerebellar hypoplasia type 2A; C1856974 225753 Pontocerebellar hypoplasia type 4; C1857762 610204 Pontocerebellar hypoplasia type 5 | | |
NM_207346.2(TSEN54):c.277T>C (p.Ser93Pro) | 283989 | TSEN54 | Pathogenic | 113994151 | RCV000002203; RCV000031854; | N | MedGen:C1856974,OMIM:225753,ORPHA:166063 | 17 | 73513145 | 73513145 | NM_207346.2:c.277T>C | NP_997229.2:p.Ser93Pro | NC_000017.10:g.73513145T>C | OMIM Allelic Variant:608755.0002 | C1856974 225753 Pontocerebellar hypoplasia type 4 | | |
NM_207346.2(TSEN54):c.736C>T (p.Gln246Ter) | 283989 | TSEN54 | Pathogenic | 113994153 | RCV000002204; | N | MedGen:C1856974,OMIM:225753,ORPHA:166063 | 17 | 73517898 | 73517898 | NM_207346.2:c.736C>T | NP_997229.2:p.Gln246Ter | NC_000017.10:g.73517898C>T | OMIM Allelic Variant:608755.0003 | C1856974 225753 Pontocerebellar hypoplasia type 4 | | |
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) | 283989 | TSEN54 | Pathogenic | 113994152 | RCV000002201; RCV000157630; RCV000157631; RCV000147790; RCV000002203; | Y | Human Phenotype Ontology:HP:0006955,Human Phenotype Ontology:HP:0007168,MedGen:C1859341; MedGen:C1848526,OMIM:277470; MedGen:C1856974,OMIM:225753,ORPHA:166063; MedGen:C1857762,OMIM:610204,ORPHA:166068 | 17 | 73518081 | 73518081 | NM_207346.2:c.919G>T | NP_997229.2:p.Ala307Ser | NC_000017.10:g.73518081G>T | OMIM Allelic Variant:608755.0001,OMIM Allelic Variant:608755.0002 | C1859341 Olivopontocerebellar hypoplasia; C1848526 277470 Pontocerebellar hypoplasia type 2A; C1856974 225753 Pontocerebellar hypoplasia type 4; C1857762 610204 Pontocerebellar hypoplasia type 5 | | |
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) | 283989 | TSEN54 | Pathogenic | 113994152 | RCV000002201; RCV000157630; RCV000157631; RCV000147790; RCV000002203; | Y | Human Phenotype Ontology:HP:0006955,Human Phenotype Ontology:HP:0007168,MedGen:C1859341; MedGen:C1848526,OMIM:277470; MedGen:C1856974,OMIM:225753,ORPHA:166063; MedGen:C1857762,OMIM:610204,ORPHA:166068 | 17 | 73518081 | 73518081 | NM_207346.2:c.919G>T | NP_997229.2:p.Ala307Ser | NC_000017.10:g.73518081G>T | OMIM Allelic Variant:608755.0001,OMIM Allelic Variant:608755.0002 | C1859341 Olivopontocerebellar hypoplasia; C1848526 277470 Pontocerebellar hypoplasia type 2A; C1856974 225753 Pontocerebellar hypoplasia type 4; C1857762 610204 Pontocerebellar hypoplasia type 5 | | |
NM_207346.2(TSEN54):c.1027C>T (p.Gln343Ter) | 283989 | TSEN54 | Pathogenic | 113994154 | RCV000002205; | N | MedGen:C1856974,OMIM:225753,ORPHA:166063 | 17 | 73518189 | 73518189 | NM_207346.2:c.1027C>T | NP_997229.2:p.Gln343Ter | NC_000017.10:g.73518189C>T | OMIM Allelic Variant:608755.0004 | C1856974 225753 Pontocerebellar hypoplasia type 4 | | |