single nucleotide variant | NM_031443.4(CCM2):c.1A>G (p.Met1Val) | CCM2 | Pathogenic | 7 | 45039933 | 45039933 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA252397,OMIM:607929.0005 |
Deletion | NM_031443.4(CCM2):c.23del (p.Gly8fs) | CCM2 | Pathogenic | 7 | 45039953 | 45039953 | AG | A | criteria provided, single submitter | OMIM:607929.0001 |
single nucleotide variant | NM_031443.4(CCM2):c.30+1G>A | CCM2 | Pathogenic | 7 | 45039963 | 45039963 | G | A | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_031443.4(CCM2):c.30+5_30+6delinsTT | CCM2 | Pathogenic | 7 | 45039967 | 45039968 | GC | TT | criteria provided, multiple submitters, no conflicts | OMIM:607929.0010,ClinGen:CA274922 |
copy number loss | GRCh37/hg19 7p13(chr7:45065944-45115876)x1 | CCM2 | Pathogenic | 7 | 45065944 | 45115876 | na | na | criteria provided, single submitter | - |
Deletion | NC_000007.14:g.(?_45027705)_(45086112_?)del | CCM2 | Pathogenic | 7 | 45067304 | 45125711 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.31-2A>G | CCM2 | Likely pathogenic | 7 | 45077850 | 45077850 | A | G | criteria provided, single submitter | ClinGen:CA367426497 |
Deletion | NC_000007.14:g.(?_45038253)_(45076470_?)del | CCM2 | Pathogenic | 7 | 45077852 | 45116069 | na | na | criteria provided, single submitter | - |
Insertion | NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) | CCM2 | Pathogenic | 7 | 45077863 | 45077864 | C | CATTTAAACGAGTATTTAAA | criteria provided, single submitter | ClinGen:CA658657671 |
single nucleotide variant | NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) | CCM2 | Pathogenic | 7 | 45077876 | 45077876 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA4246869 |