Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_183357.2(ADCY5):c.3086T>A (p.Met1029Lys) | 111 | ADCY5 | Pathogenic | 864309484 | RCV000202493; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123010201 | 123010201 | NM_183357.2:c.3086T>A | NP_899200.1:p.Met1029Lys | NC_000003.11:g.123010201A>T | - | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |
NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr) | 111 | ADCY5 | Pathogenic | 796065306 | RCV000030679; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123038601 | 123038601 | NM_183357.2:c.2176G>A | NP_899200.1:p.Ala726Thr | NC_000003.11:g.123038601C>T | OMIM Allelic Variant:600293.0001 | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |
NM_183357.2(ADCY5):c.2088+1G>T | 111 | ADCY5 | Pathogenic | 797045002 | RCV000190498; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123044168 | 123044168 | NM_183357.2:c.2088+1G>T | | NC_000003.11:g.123044168C>A,NC_000003.11:g.123044168C>T | - | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |
NM_183357.2(ADCY5):c.2088+1G>A | 111 | ADCY5 | Pathogenic | 797045002 | RCV000202586; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123044168 | 123044168 | NM_183357.2:c.2088+1G>A | | NC_000003.11:g.123044168C>A,NC_000003.11:g.123044168C>T | - | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |
NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln) | 111 | ADCY5 | Pathogenic | 864309515 | RCV000202572; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123071310 | 123071310 | NM_183357.2:c.1253G>A | NP_899200.1:p.Arg418Gln | NC_000003.11:g.123071310C>T | - | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) | 111 | ADCY5 | Pathogenic | 864309483 | RCV000202545; | N | MedGen:C1847627,OMIM:606703,ORPHA:324588 | 3 | 123071311 | 123071311 | NM_183357.2:c.1252C>T | NP_899200.1:p.Arg418Trp | NC_000003.11:g.123071311G>A | - | C1847627 606703 Dyskinesia, familial, with facial myokymia | | |