Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_015488.4(PNKD):c.20C>T (p.Ala7Val) | 25953 | PNKD | Pathogenic | 121434512 | RCV000001970; | N | MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003 | 2 | 219135278 | 219135278 | NM_015488.4:c.20C>T | NP_056303.3:p.Ala7Val | NC_000002.11:g.219135278C>T | OMIM Allelic Variant:609023.0002 | C1869117 118800 Paroxysmal choreoathetosis | | |
NM_015488.4(PNKD):c.26C>T (p.Ala9Val) | 25953 | PNKD | Pathogenic | 121434511 | RCV000001969; | N | MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003 | 2 | 219135284 | 219135284 | NM_015488.4:c.26C>T | NP_056303.3:p.Ala9Val | NC_000002.11:g.219135284C>T | OMIM Allelic Variant:609023.0001 | C1869117 118800 Paroxysmal choreoathetosis | | |
NM_015488.4(PNKD):c.97G>C (p.Ala33Pro) | 25953 | PNKD | Pathogenic | 121434513 | RCV000001971; | N | MedGen:C1869117,OMIM:118800,ORPHA:98810,SNOMED CT:49949003 | 2 | 219136133 | 219136133 | NM_015488.4:c.97G>C | NP_056303.3:p.Ala33Pro | NC_000002.11:g.219136133G>C | OMIM Allelic Variant:609023.0003 | C1869117 118800 Paroxysmal choreoathetosis | | |