Table 2. Mutations identified within the CCM2 gene (NM_031443.3).
| Pedigree | No. of affected individuals | Age at MRI | Exon/Intron | Nucleotide change | Mutation consequence | Predicted amino acid change | Condition |
| CV77 | 1 | 50 | All | delCCM2 | Gross deletion | NA [15] | Pathogenic |
| CV128 | 5 | 39–72 | 1 | 5′UTR-exon1del | Gross deletion | NA [12], [15] | Pathogenic |
| CV140 | 1 | 55 | 2 | c.55C>T | Nonsense | p.R19X [22] | Pathogenic |
| CV100 | 1 | 41 | 2 | c.169_172delAGAC | Frameshift | p.Arg57CysfsX1 [14] | Pathogenic |
| CV145 | 2 | 3 | c.222G>Aa | Transition | None | Non pathogenic | |
| CVb | 15 | 22–78 | 5 | c.554_567del | Frameshift | p.Ala186GlyfsX44 [14] | Pathogenic |
| CV114 | 1 | 6 | c.713C>Aa | Missense | p.S238Y | Possibly pathogenic |
a
New mutation non-previously reported.
b
The c.554_567del is a redundant mutation that was detected in 11 unrelated Spanish families [14].
NA: not available.