Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) | -1 | PJVK;PRKRA | Benign/Likely benign | 62176112 | RCV000399335|RCV000407894|RCV001130745|RCV001594966; | N | MedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179315726 | 179315726 | | | NC_000002.11:g.179315726G>A | ClinGen:CA1984089 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) | -1 | PJVK;PRKRA | Benign/Likely benign | 141354030 | RCV000304508|RCV000311895|RCV000986933|RCV001528997|RCV001579908; | N | MedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN169374|MedGen:CN517202 | 2 | 179315735 | 179315736 | | | 2:g.179315735_179315736del | ClinGen:CA1984091 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) | -1 | PJVK;PRKRA | Benign/Likely benign | 9406386 | RCV000357343|RCV000361598|RCV000454425|RCV000986934|RCV001691951; | N | Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN239439|MedGen:CN169374|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179315757 | 179315757 | | | 2:g.179315757T>G | ClinGen:CA1984093 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-24G>A | -1 | PJVK;PRKRA | Benign/Likely benign | 62176113 | RCV000264410|RCV000317546|RCV001133707|RCV001653612; | N | MedGen:CN239439|Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179315781 | 179315781 | | | NC_000002.11:g.179315781C>T | ClinGen:CA1984100 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*655T>C | 8575 | PRKRA | Uncertain significance | 4533501 | RCV001133566; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296169 | 179296169 | | | 2:g.179296169A>G | - | | |
NM_003690.5(PRKRA):c.*576G>A | 8575 | PRKRA | Uncertain significance | 1696648689 | RCV001133567; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296248 | 179296248 | | | 2:g.179296248C>T | - | | |
NM_003690.5(PRKRA):c.*553A>G | 8575 | PRKRA | Uncertain significance | 3997881 | RCV001133568; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296271 | 179296271 | | | 2:g.179296271T>C | - | | |
NM_003690.5(PRKRA):c.*313G>A | 8575 | PRKRA | Conflicting interpretations of pathogenicity | 3997879 | RCV000407066|RCV001690098; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296511 | 179296511 | | | 2:g.179296511C>T | ClinGen:CA10612952 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*265A>C | 8575 | PRKRA | Uncertain significance | 886055201 | RCV000307058; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296559 | 179296559 | | | 2:g.179296559T>G | ClinGen:CA10611978 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*200G>A | 8575 | PRKRA | Benign/Likely benign | 141995027 | RCV001133569|RCV001561469; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296624 | 179296624 | | | 2:g.179296624C>T | - | | |
NM_003690.5(PRKRA):c.*198C>T | 8575 | PRKRA | Benign | 3997878 | RCV000371098|RCV001597096; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296626 | 179296626 | | | 2:g.179296626G>A | ClinGen:CA10611980 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*180C>T | 8575 | PRKRA | Uncertain significance | 886055202 | RCV000276536; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296644 | 179296644 | | | 2:g.179296644G>A | ClinGen:CA10613185 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*159T>C | 8575 | PRKRA | Benign/Likely benign | 115244185 | RCV000331570|RCV001556258; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296665 | 179296665 | | | 2:g.179296665A>G | ClinGen:CA10612955 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*158A>G | 8575 | PRKRA | Conflicting interpretations of pathogenicity | 3997877 | RCV000367520|RCV001594965; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296666 | 179296666 | | | NC_000002.11:g.179296666T>C | ClinGen:CA10611981 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*151A>T | 8575 | PRKRA | Uncertain significance | 886055203 | RCV000263510; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296673 | 179296673 | | | NC_000002.11:g.179296673T>A | ClinGen:CA10611984 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.*79G>A | 8575 | PRKRA | Uncertain significance | 9678530 | RCV001135059; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296745 | 179296745 | | | 2:g.179296745C>T | - | | |
NM_003690.5(PRKRA):c.*31G>A | 8575 | PRKRA | Likely benign | 372585947 | RCV001135060; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296793 | 179296793 | | | 2:g.179296793C>T | - | | |
NC_000002.11:g.(?_179296804)_(179456251_?)dup | 8575 | PRKRA | Uncertain significance | -1 | RCV000708061; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296804 | 179456251 | | | | - | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.*3C>T | 8575 | PRKRA | Benign | 3997876 | RCV000318859|RCV001675829; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296821 | 179296821 | | | NC_000002.11:g.179296821G>A | ClinGen:CA1983690 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr) | 8575 | PRKRA | Uncertain significance | -1 | RCV003130337; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296843 | 179296843 | | | NC_000002.11:g.179296843A>G | - | | |
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser) | 8575 | PRKRA | Uncertain significance | 778511975 | RCV001987261; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296864 | 179296864 | | | 179296864 | - | | |
NM_003690.5(PRKRA):c.891T>C (p.Asp297=) | 8575 | PRKRA | Likely benign | 2154124431 | RCV001420044; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296875 | 179296875 | | | 179296875 | - | | |
NM_003690.5(PRKRA):c.870C>T (p.Ser290=) | 8575 | PRKRA | Uncertain significance | 537898766 | RCV000373560; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296896 | 179296896 | | | NC_000002.11:g.179296896G>A | ClinGen:CA1983699 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) | 8575 | PRKRA | Likely benign | 116833881 | RCV000615771|RCV001556543; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296905 | 179296905 | | | 2:g.179296905G>A | ClinGen:CA1983700 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.861C>A (p.Ser287=) | 8575 | PRKRA | Uncertain significance | -1 | RCV003057362; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296905 | 179296905 | | | | - | | |
NM_003690.5(PRKRA):c.854A>G (p.His285Arg) | 8575 | PRKRA | Uncertain significance | -1 | RCV002801745; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296912 | 179296912 | | | NC_000002.11:g.179296912T>C | - | | |
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe) | 8575 | PRKRA | Uncertain significance | 199725025 | RCV000646155; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296915 | 179296915 | | | NC_000002.11:g.179296915C>A | ClinGen:CA1983701 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.840C>T (p.Pro280=) | 8575 | PRKRA | Likely benign | 1176724773 | RCV002199644; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296926 | 179296926 | | | 179296926 | - | | |
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser) | 8575 | PRKRA | Uncertain significance | 557879457 | RCV001233813; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296966 | 179296966 | | | 2:g.179296966T>C | - | | |
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) | 8575 | PRKRA | Conflicting interpretations of pathogenicity | 148050153 | RCV001130039; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296970 | 179296970 | | | 2:g.179296970C>T | - | | |
NM_003690.5(PRKRA):c.795C>T (p.Ser265=) | 8575 | PRKRA | Benign | 150679361 | RCV000537834|RCV001672841; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179296971 | 179296971 | | | NC_000002.11:g.179296971G>A | ClinGen:CA1983709 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg) | 8575 | PRKRA | Uncertain significance | 150679361 | RCV001929742; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296971 | 179296971 | | | 179296971 | - | | |
NM_003690.5(PRKRA):c.792G>C (p.Leu264=) | 8575 | PRKRA | Likely benign | 750650286 | RCV001492593; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296974 | 179296974 | | | 179296974 | - | | |
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT | 8575 | PRKRA | Uncertain significance | 751875722 | RCV000490410; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296982 | 179296983 | | | 2:g.179296982_179296983insTATATCCAAATA | ClinGen:CA1983712 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.785-14A>C | 8575 | PRKRA | Likely benign | -1 | RCV002962818; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179296995 | 179296995 | | | NC_000002.11:g.179296995T>G | - | | |
NM_003690.5(PRKRA):c.784+15dup | 8575 | PRKRA | Benign | -1 | RCV003015104; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300856 | 179300857 | | | NC_000002.11:g.179300865dup | - | | |
NM_003690.5(PRKRA):c.784+15T>C | 8575 | PRKRA | Uncertain significance | 367606024 | RCV000279031; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300857 | 179300857 | | | NC_000002.11:g.179300857A>G | ClinGen:CA1983762 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.784+15del | 8575 | PRKRA | Benign/Likely benign | 200581051 | RCV002083090; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300857 | 179300857 | | | 179300856 | - | | |
NM_003690.5(PRKRA):c.784+14T>A | 8575 | PRKRA | Likely benign | 748087429 | RCV002152969; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300858 | 179300858 | | | 179300858 | - | | |
NM_003690.5(PRKRA):c.784+6A>T | 8575 | PRKRA | Likely benign | 188208530 | RCV000488037|RCV001079517; | N | MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300866 | 179300866 | | | 2:g.179300866T>A | ClinGen:CA1983774 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val) | 8575 | PRKRA | Uncertain significance | 769913085 | RCV000646154; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300890 | 179300890 | | | 2:g.179300890T>C | ClinGen:CA1983780 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr) | 8575 | PRKRA | Uncertain significance | 756005650 | RCV000585196|RCV001859728; | N | MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300952 | 179300952 | | | 2:g.179300952C>G | ClinGen:CA1983788 | CN517202 not provided; | |
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) | 8575 | PRKRA | Benign | 62176107 | RCV000860770|RCV001579885; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179300971 | 179300971 | | | NC_000002.11:g.179300971G>A | ClinGen:CA1983794 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser) | 8575 | PRKRA | Uncertain significance | 1158107453 | RCV002022974; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179300976 | 179300976 | | | 179300976 | - | | |
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) | 8575 | PRKRA | Benign/Likely benign | 77419724 | RCV000379417|RCV001653610|RCV002248618; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900|MedGen:CN169374 | 2 | 179300979 | 179300979 | | | NC_000002.11:g.179300979A>T | ClinGen:CA1983795 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) | 8575 | PRKRA | Pathogenic | 121434410 | RCV000006718|RCV001786327; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN517202 | 2 | 179300991 | 179300991 | | | 2:g.179300991G>A | ClinGen:CA118133,UniProtKB:O75569#VAR_046213,OMIM:603424.0001 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) | 8575 | PRKRA | Conflicting interpretations of pathogenicity | 763093482 | RCV001130040; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301002 | 179301002 | | | 2:g.179301002C>T | - | | |
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) | 8575 | PRKRA | Pathogenic/Likely pathogenic | 752452731 | RCV002250264; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301018 | 179301018 | | | 179301018 | - | | |
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg) | 8575 | PRKRA | Uncertain significance | 1575088174 | RCV000850587; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301019 | 179301019 | | | 2:g.179301019A>G | - | | |
NM_003690.5(PRKRA):c.616G>A (p.Val206Ile) | 8575 | PRKRA | Uncertain significance | -1 | RCV002805809; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301040 | 179301040 | | | NC_000002.11:g.179301040C>T | - | | |
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg) | 8575 | PRKRA | Uncertain significance | 1351253817 | RCV000646156; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301045 | 179301045 | | | NC_000002.11:g.179301045G>C | ClinGen:CA349401193 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA | 8575 | PRKRA | Likely pathogenic | 775832077 | RCV001355601; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301046 | 179301047 | | | 179301046 | - | | |
NM_003690.5(PRKRA):c.610-11_610-10del | 8575 | PRKRA | Benign/Likely benign | 138320145 | RCV000285008|RCV000646158|RCV001653611; | N | Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:CN517202 | 2 | 179301056 | 179301057 | | | NC_000002.11:g.179301057GA[1] | ClinGen:CA1983825 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.610-18T>G | 8575 | PRKRA | Likely benign | -1 | RCV003089280; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179301064 | 179301064 | | | NC_000002.11:g.179301064A>C | - | | |
NM_003690.5(PRKRA):c.609+20A>G | 8575 | PRKRA | Benign/Likely benign | 73973115 | RCV001590411|RCV002072353; | N | MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306317 | 179306317 | | | 179306317 | - | | |
NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser) | 8575 | PRKRA | Uncertain significance | -1 | RCV002942581; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306365 | 179306365 | | | NC_000002.11:g.179306365T>C | - | | |
NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr) | 8575 | PRKRA | Uncertain significance | -1 | RCV003059501; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306368 | 179306368 | | | NC_000002.11:g.179306368C>G | - | | |
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) | 8575 | PRKRA | Benign/Likely benign | 61746229 | RCV000340042; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306397 | 179306397 | | | NC_000002.11:g.179306397A>G | ClinGen:CA1983851 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter) | 8575 | PRKRA | Uncertain significance | -1 | RCV002838681; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306411 | 179306411 | | | NC_000002.11:g.179306411G>A | - | | |
NM_003690.5(PRKRA):c.515-11del | 8575 | PRKRA | Benign/Likely benign | 199996045 | RCV000395086|RCV001555781|RCV002057612; | N | Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179306442 | 179306442 | | | NC_000002.11:g.179306446del | ClinGen:CA1983871 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.514+2T>A | 8575 | PRKRA | Uncertain significance | -1 | RCV003130338; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179307992 | 179307992 | | | NC_000002.11:g.179307992A>T | - | | |
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu) | 8575 | PRKRA | Uncertain significance | 747134851 | RCV001966739; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179308008 | 179308008 | | | 179308008 | - | | |
NM_003690.5(PRKRA):c.397-3T>C | 8575 | PRKRA | Benign | 200249113 | RCV000290931; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179308114 | 179308114 | | | NC_000002.11:g.179308114A>G | ClinGen:CA1983911 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.397-6T>G | 8575 | PRKRA | Uncertain significance | 1031316165 | RCV002027859; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179308117 | 179308117 | | | 179308117 | - | | |
NM_003690.5(PRKRA):c.397-19C>T | 8575 | PRKRA | Likely benign | -1 | RCV002710426; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179308130 | 179308130 | | | NC_000002.11:g.179308130G>A | - | | |
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu) | 8575 | PRKRA | Benign | 75862065 | RCV000390494; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309165 | 179309165 | | | NC_000002.11:g.179309165G>A | ClinGen:CA1983939 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser) | 8575 | PRKRA | Uncertain significance | 1553597653 | RCV000646157; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309168 | 179309168 | | | NC_000002.11:g.179309168T>C | ClinGen:CA349404829 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.348C>T (p.Asp116=) | 8575 | PRKRA | Likely benign | 752108367 | RCV001461244; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309197 | 179309197 | | | 179309197 | - | | |
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg) | 8575 | PRKRA | Uncertain significance | 151157679 | RCV000809836; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309210 | 179309210 | | | 2:g.179309210G>C | - | | |
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu) | 8575 | PRKRA | Uncertain significance | 1369422271 | RCV001300785; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309226 | 179309226 | | | 179309226 | - | | |
NM_003690.5(PRKRA):c.318-20C>G | 8575 | PRKRA | Uncertain significance | -1 | RCV003078384; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179309247 | 179309247 | | | NC_000002.11:g.179309247G>C | - | | |
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val) | 8575 | PRKRA | Uncertain significance | 2154125404 | RCV002012350; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312241 | 179312241 | | | 179312241 | - | | |
NM_003690.5(PRKRA):c.286A>G (p.Ile96Val) | 8575 | PRKRA | Uncertain significance | -1 | RCV002982950; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312263 | 179312263 | | | NC_000002.11:g.179312263T>C | - | | |
NM_003690.5(PRKRA):c.285C>A (p.Ala95=) | 8575 | PRKRA | Likely benign | 546281621 | RCV001474136; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312264 | 179312264 | | | 179312264 | - | | |
NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser) | 8575 | PRKRA | Uncertain significance | -1 | RCV002814471; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312279 | 179312279 | | | NC_000002.11:g.179312279T>G | - | | |
NM_003690.5(PRKRA):c.267_268del (p.His89fs) | 8575 | PRKRA | Pathogenic | 730880307 | RCV000006719; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312281 | 179312282 | | | 2:g.179312281_179312282del | ClinGen:CA212851,OMIM:603424.0002 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.261G>A (p.Ala87=) | 8575 | PRKRA | Likely benign | 778921785 | RCV000874091|RCV001397909; | N | MedGen:CN517202|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312288 | 179312288 | | | 2:g.179312288C>T | - | | |
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val) | 8575 | PRKRA | Uncertain significance | 1311237497 | RCV000544292; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312293 | 179312293 | | | 2:g.179312293G>C | ClinGen:CA349405652 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys) | 8575 | PRKRA | Uncertain significance | -1 | RCV003388775; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179312293 | 179312294 | | | | - | | |
NM_003690.5(PRKRA):c.235+11A>G | 8575 | PRKRA | Likely benign | 753131558 | RCV002188250; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179314958 | 179314958 | | | 179314958 | - | | |
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys) | 8575 | PRKRA | Uncertain significance | 189979808 | RCV001037974; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179314971 | 179314971 | | | 2:g.179314971G>T | - | | |
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser) | 8575 | PRKRA | Uncertain significance | 2154125572 | RCV001944093; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179314974 | 179314974 | | | 179314974 | - | | |
NM_003690.5(PRKRA):c.228C>G (p.Thr76=) | 8575 | PRKRA | Likely benign | -1 | RCV003085230; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179314976 | 179314976 | | | | - | | |
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) | 8575 | PRKRA | Benign/Likely benign | 61999302 | RCV000315467|RCV000860794|RCV001534920; | N | Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179315031 | 179315031 | | | NC_000002.11:g.179315031T>C | ClinGen:CA1984024 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe) | 8575 | PRKRA | Uncertain significance | -1 | RCV003388776; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315043 | 179315043 | | | | - | | |
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr) | 8575 | PRKRA | Uncertain significance | 1553599437 | RCV000646153; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315073 | 179315073 | | | NC_000002.11:g.179315073A>G | ClinGen:CA349396254 | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu) | 8575 | PRKRA | Uncertain significance | 2154125583 | RCV002014360; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315095 | 179315095 | | | 179315095 | - | | |
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr) | 8575 | PRKRA | Uncertain significance | 1293335092 | RCV001350679|RCV002547507; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MeSH:D030342,MedGen:C0950123 | 2 | 179315119 | 179315119 | | | 179315119 | - | | |
NM_003690.5(PRKRA):c.84A>G (p.Thr28=) | 8575 | PRKRA | Likely benign | 1336241160 | RCV001479073; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315120 | 179315120 | | | 179315120 | - | | |
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr) | 8575 | PRKRA | Uncertain significance | 780703241 | RCV001130743; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315124 | 179315124 | | | 2:g.179315124A>G | - | | |
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys) | 8575 | PRKRA | Uncertain significance | 755656753 | RCV001880476; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315127 | 179315127 | | | 179315127 | - | | |
NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala) | 8575 | PRKRA | Uncertain significance | -1 | RCV003002978; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315133 | 179315133 | | | NC_000002.11:g.179315133C>G | - | | |
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT | 8575 | PRKRA | Benign | 1553599483 | RCV001197596; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315141 | 179315142 | | | 2:g.179315141_179315142insAAGGTCCCACTGTCCTCGCGCTCCAGCGGCAGGGCCTCGGCGGTGCCTGCTCTGGGA | - | | |
NM_001139517.1(PRKRA):c.27_28ins57 (p.?) | 8575 | PRKRA | Benign | -1 | RCV000625218; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315143 | 179315144 | | | | - | C2677567 612067 Dystonia 16; | |
NM_003690.5(PRKRA):c.66-10G>T | 8575 | PRKRA | Likely benign | 375307696 | RCV002075495; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315148 | 179315148 | | | 179315148 | - | | |
NM_003690.5(PRKRA):c.65+20G>A | 8575 | PRKRA | Likely benign | -1 | RCV002998780; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315673 | 179315673 | | | NC_000002.11:g.179315673C>T | - | | |
NM_003690.5(PRKRA):c.65+18C>T | 8575 | PRKRA | Likely benign | -1 | RCV002957613; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315675 | 179315675 | | | NC_000002.11:g.179315675G>A | - | | |
NM_003690.5(PRKRA):c.65+16G>A | 8575 | PRKRA | Benign | 565738732 | RCV002213176; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315677 | 179315677 | | | 179315677 | - | | |
NM_003690.5(PRKRA):c.65+15A>C | 8575 | PRKRA | Likely benign | 2154125656 | RCV002196189; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315678 | 179315678 | | | 179315678 | - | | |
NM_003690.5(PRKRA):c.65+10C>T | 8575 | PRKRA | Benign/Likely benign | 535076601 | RCV000370077; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315683 | 179315683 | | | NC_000002.11:g.179315683G>A | ClinGen:CA1984082 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.54T>C (p.Ser18=) | 8575 | PRKRA | Uncertain significance | 1235471739 | RCV001130744; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315704 | 179315704 | | | 2:g.179315704A>G | - | | |
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys) | 8575 | PRKRA | Uncertain significance | 933550231 | RCV001944672; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315718 | 179315718 | | | 179315718 | - | | |
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg) | 8575 | PRKRA | Uncertain significance | 62176112 | RCV000810258; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315726 | 179315726 | | | 2:g.179315726G>C | - | | |
NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys) | 8575 | PRKRA | Uncertain significance | -1 | RCV002650891; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315733 | 179315733 | | | NC_000002.11:g.179315733C>T | - | | |
NM_003690.5(PRKRA):c.1A>G (p.Met1Val) | 8575 | PRKRA | Uncertain significance | 9406386 | RCV001306210; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315757 | 179315757 | | | 179315757 | - | | |
NM_003690.5(PRKRA):c.-11C>T | 8575 | PRKRA | Uncertain significance | 767401214 | RCV000262327; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315768 | 179315768 | | | NC_000002.11:g.179315768G>A | ClinGen:CA1984096 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-14C>T | 8575 | PRKRA | Conflicting interpretations of pathogenicity | 181793341 | RCV001133706|RCV001585997; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571|MedGen:C3661900 | 2 | 179315771 | 179315771 | | | 2:g.179315771G>A | - | | |
NM_003690.5(PRKRA):c.-64C>G | 8575 | PRKRA | Uncertain significance | 576729883 | RCV001133708; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315821 | 179315821 | | | 2:g.179315821G>C | - | | |
NM_003690.5(PRKRA):c.-65C>G | 8575 | PRKRA | Uncertain significance | 557426364 | RCV000353699; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315822 | 179315822 | | | NC_000002.11:g.179315822G>C | ClinGen:CA10613186 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-104G>A | 8575 | PRKRA | Uncertain significance | 545506202 | RCV000268075; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315861 | 179315861 | | | NC_000002.11:g.179315861C>T | ClinGen:CA10611553 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-117C>T | 8575 | PRKRA | Uncertain significance | 886055204 | RCV000323424; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315874 | 179315874 | | | NC_000002.11:g.179315874G>A | ClinGen:CA10612965 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-124C>A | 8575 | PRKRA | Uncertain significance | 186454714 | RCV001133709; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315881 | 179315881 | | | 2:g.179315881G>T | - | | |
NM_003690.5(PRKRA):c.-125G>A | 8575 | PRKRA | Uncertain significance | 190533045 | RCV001135199; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315882 | 179315882 | | | 2:g.179315882C>T | - | | |
NM_003690.5(PRKRA):c.-133C>G | 8575 | PRKRA | Uncertain significance | 80197731 | RCV000378059; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315890 | 179315890 | | | NC_000002.11:g.179315890G>C | ClinGen:CA10612966 | C0393593 Dystonia; | |
NM_003690.5(PRKRA):c.-141C>A | 8575 | PRKRA | Uncertain significance | 1395280729 | RCV001135200; | N | MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315898 | 179315898 | | | 2:g.179315898G>T | - | | |
NM_003690.4(PRKRA):c.-149T>C | 8575 | PRKRA | Uncertain significance | 559331370 | RCV000264679|RCV002488708; | N | Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067, Orphanet:210571 | 2 | 179315906 | 179315906 | | | NC_000002.11:g.179315906A>G | ClinGen:CA10611562 | C0393593 Dystonia; | |