Deletion | NM_031443.4(CCM2):c.295del (p.His99fs) | CCM2 | Pathogenic | 7 | 45104066 | 45104066 | GC | G | criteria provided, single submitter | ClinGen:CA658657672 |
Deletion | NM_031443.4(CCM2):c.298del (p.Gln100fs) | CCM2 | Likely pathogenic | 7 | 45104070 | 45104070 | AC | A | 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 | - |
single nucleotide variant | NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) | CCM2 | Pathogenic | 7 | 45104092 | 45104092 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:607929.0002,ClinGen:CA252392 |
single nucleotide variant | NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) | CCM2 | Pathogenic | 7 | 45104127 | 45104127 | C | G | criteria provided, single submitter | ClinGen:CA16043429 |
Duplication | NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) | CCM2 | Pathogenic | 7 | 45104174 | 45104175 | T | TGCCC | 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 | - |
single nucleotide variant | NM_031443.4(CCM2):c.609G>A (p.Lys203=) | CCM2 | Likely pathogenic | 7 | 45108178 | 45108178 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_031443.4(CCM2):c.610-1G>A | CCM2 | Pathogenic | 7 | 45109424 | 45109424 | G | A | criteria provided, single submitter | OMIM:607929.0003 |
single nucleotide variant | NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) | CCM2 | Likely pathogenic | 7 | 45109450 | 45109450 | T | C | criteria provided, single submitter | ClinGen:CA367430545 |