Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_145239.2(PRRT2):c.487C>T (p.Gln163Ter) | 112476 | PRRT2 | Pathogenic | 387907127 | RCV000024174; RCV000024175; RCV000188764; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709; MedGen:C1868682,OMIM:128200; MedGen:CN221809 | 16 | 29824862 | 29824862 | NM_145239.2:c.487C>T | NP_660282.2:p.Gln163Ter | NC_000016.9:g.29824862C>T | OMIM Allelic Variant:614386.0009 | C1868682 128200 Dystonia 10; C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided | | |
NM_145239.2(PRRT2):c.516dupT (p.Glu173Terfs) | 112476 | PRRT2 | Pathogenic | 730882068 | RCV000024173; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709 | 16 | 29824891 | 29824891 | NM_145239.2:c.516dupT | NP_660282.2:p.Glu173Terfs | NC_000016.9:g.29824891dupT | OMIM Allelic Variant:614386.0008 | C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial | | |
NM_145239.2(PRRT2):c.562C>T (p.Gln188Ter) | 112476 | PRRT2 | Pathogenic | 397514578 | RCV000032971; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709 | 16 | 29824937 | 29824937 | NM_145239.2:c.562C>T | NP_660282.2:p.Gln188Ter | NC_000016.9:g.29824937C>T | OMIM Allelic Variant:614386.0012 | C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial | | |
NM_145239.2(PRRT2):c.629dupC (p.Ala211Serfs) | 112476 | PRRT2 | Pathogenic | 730882067 | RCV000024169; RCV000188767; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709; MedGen:CN221809 | 16 | 29825004 | 29825004 | NM_145239.2:c.629dupC | NP_660282.2:p.Ala211Serfs | NC_000016.9:g.29825004dupC | OMIM Allelic Variant:614386.0004 | C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial; CN221809 not provided | | |
NM_145239.2(PRRT2):c.718C>T (p.Arg240Ter) | 112476 | PRRT2 | Pathogenic | 387907126 | RCV000024172; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709 | 16 | 29825093 | 29825093 | NM_145239.2:c.718C>T | NP_660282.2:p.Arg240Ter | NC_000016.9:g.29825093C>T | OMIM Allelic Variant:614386.0007 | C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial | | |
NM_145239.2(PRRT2):c.950G>A (p.Ser317Asn) | 112476 | PRRT2 | Pathogenic | 387907125 | RCV000024170; | N | MedGen:C1865926,OMIM:602066,ORPHA:31709 | 16 | 29825724 | 29825724 | NM_145239.2:c.950G>A | NP_660282.2:p.Ser317Asn | NC_000016.9:g.29825724G>A | OMIM Allelic Variant:614386.0005 | C1865926 602066 Infantile convulsions and paroxysmal choreoathetosis, familial | | |