single nucleotide variant | NM_031443.4(CCM2):c.609G>A (p.Lys203=) | CCM2 | Likely pathogenic | 7 | 45108178 | 45108178 | G | A | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.586del (p.Val196fs) | CCM2 | Likely pathogenic | 7 | 45108154 | 45108154 | TG | T | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer) | CCM2 | Pathogenic | 7 | 45104086 | 45104086 | CT | C | criteria provided, single submitter | - |
Deletion | NM_031443.4(CCM2):c.298del (p.Gln100fs) | CCM2 | Likely pathogenic | 7 | 45104070 | 45104070 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.289-1G>T | CCM2 | Pathogenic | 7 | 45104061 | 45104061 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.289-1G>A | CCM2 | Pathogenic/Likely pathogenic | 7 | 45104061 | 45104061 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_031443.4(CCM2):c.289-19_352del | CCM2 | Likely pathogenic | 7 | 45104042 | 45104124 | ATGCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) | CCM2 | Pathogenic/Likely pathogenic | 7 | 45077990 | 45077990 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_031443.4(CCM2):c.30+1G>A | CCM2 | Pathogenic | 7 | 45039963 | 45039963 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000007.14:g.(?_45027705)_(45086112_?)del | CCM2 | Pathogenic | 7 | 45067304 | 45125711 | na | na | criteria provided, single submitter | - |