Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002772.2(TMPRSS15):c.2569C>T (p.Arg857Ter) | 5651 | TMPRSS15 | Pathogenic | 121908059 | RCV000004382; | N | MedGen:C0268416,OMIM:226200,ORPHA:168601,SNOMED CT:124498007,SNOMED CT:190952002 | 21 | 19653456 | 19653456 | NM_002772.2:c.2569C>T | NP_002763.2:p.Arg857Ter | NC_000021.8:g.19653456G>A | OMIM Allelic Variant:606635.0002 | C0268416 226200 Enterokinase deficiency; C1868595 168601 Parkinson disease 1 | | |
NM_002772.2(TMPRSS15):c.2135C>G (p.Ser712Ter) | 5651 | TMPRSS15 | Pathogenic | 77200626 | RCV000004381; | N | MedGen:C0268416,OMIM:226200,ORPHA:168601,SNOMED CT:124498007,SNOMED CT:190952002 | 21 | 19685292 | 19685292 | NM_002772.2:c.2135C>G | NP_002763.2:p.Ser712Ter | NC_000021.8:g.19685292G>C | OMIM Allelic Variant:606635.0001 | C0268416 226200 Enterokinase deficiency; C1868595 168601 Parkinson disease 1 | | |
NM_002772.2(TMPRSS15):c.1428+2T>G | 5651 | TMPRSS15 | Pathogenic | 138221037 | RCV000184055; | N | MedGen:C0268416,OMIM:226200,ORPHA:168601,SNOMED CT:124498007,SNOMED CT:190952002 | 21 | 19715821 | 19715821 | NM_002772.2:c.1428+2T>G | | NC_000021.8:g.19715821A>C | - | C0268416 226200 Enterokinase deficiency; C1868595 168601 Parkinson disease 1 | | |
NM_002772.2(TMPRSS15):c.781C>T (p.Gln261Ter) | 5651 | TMPRSS15 | Pathogenic | 121908060 | RCV000004383; | N | MedGen:C0268416,OMIM:226200,ORPHA:168601,SNOMED CT:124498007,SNOMED CT:190952002 | 21 | 19732173 | 19732173 | NM_002772.2:c.781C>T | NP_002763.2:p.Gln261Ter | NC_000021.8:g.19732173G>A | OMIM Allelic Variant:606635.0003 | C0268416 226200 Enterokinase deficiency; C1868595 168601 Parkinson disease 1 | | |