Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_031443.3(CCM2):c.1A>G (p.Met1Val) | 83605 | CCM2 | Pathogenic | 137852842 | RCV000002803; | N | MedGen:C1864041,OMIM:603284 | 7 | 45039933 | 45039933 | NM_031443.3:c.1A>G | NP_113631.1:p.Met1Val | NC_000007.13:g.45039933A>G | OMIM Allelic Variant:607929.0005 | C1864041 603284 Cerebral cavernous malformations 2 | | |
NM_031443.3(CCM2):c.30+5_30+6delGCinsTT | 83605 | CCM2 | Pathogenic | 797044623 | RCV000173535; | N | MedGen:C1864041,OMIM:603284 | 7 | 45039967 | 45039968 | NM_031443.3:c.30+5_30+6delGCinsTT | | NC_000007.13:g.45039967_45039968delGCinsTT | - | C1864041 603284 Cerebral cavernous malformations 2 | | |
NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter) | 83605 | CCM2 | Pathogenic | 137852841 | RCV000002800; | N | MedGen:C1864041,OMIM:603284 | 7 | 45104092 | 45104092 | NM_001029835.2:c.382C>T | NP_001025006.1:p.Gln128Ter | NC_000007.13:g.45104092C>T | OMIM Allelic Variant:607929.0002 | C1864041 603284 Cerebral cavernous malformations 2 | | |
NM_001029835.2(CCM2):c.656T>G (p.Leu219Arg) | 83605 | CCM2 | Pathogenic | 137852843 | RCV000002805; | N | MedGen:C1864041,OMIM:603284 | 7 | 45108162 | 45108162 | NM_001029835.2:c.656T>G | NP_001025006.1:p.Leu219Arg | NC_000007.13:g.45108162T>G | OMIM Allelic Variant:607929.0007 | C1864041 603284 Cerebral cavernous malformations 2 | | |