single nucleotide variant | NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter) | CCM2 | Pathogenic | 7 | 45104092 | 45104092 | C | T | criteria provided, single submitter | OMIM Allelic Variant:607929.0002 |
single nucleotide variant | NM_031443.3(CCM2):c.1A>G (p.Met1Val) | CCM2 | Pathogenic | 7 | 45039933 | 45039933 | A | G | criteria provided, single submitter | OMIM Allelic Variant:607929.0005 |
single nucleotide variant | NM_194456.1(KRIT1):c.1363C>T (p.Gln455Ter) | KRIT1 | Pathogenic | 7 | 91852184 | 91852184 | G | A | criteria provided, multiple submitters, no conflicts | OMIM Allelic Variant:604214.0004 |
single nucleotide variant | NM_194456.1(KRIT1):c.601C>G (p.Gln201Glu) | KRIT1 | Pathogenic | 7 | 91864845 | 91864845 | G | C | criteria provided, single submitter | OMIM Allelic Variant:604214.0009 |
indel | NM_031443.3(CCM2):c.30+5_30+6delinsTT | CCM2 | Pathogenic | 7 | 45039967 | 45039968 | GC | TT | criteria provided, multiple submitters, no conflicts | - |
copy number loss | GRCh37/hg19 7p13(chr7:45065944-45115876)x1 | CCM2 | Pathogenic | 7 | 45065944 | 45115876 | na | na | criteria provided, single submitter | - |
deletion | NM_194456.1(KRIT1):c.1807del (p.His603fs) | KRIT1 | Pathogenic | 7 | 91843217 | 91843217 | TG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194456.1(KRIT1):c.1731-2A>G | KRIT1 | Pathogenic | 7 | 91843295 | 91843295 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_194456.1(KRIT1):c.1267C>T (p.Arg423Ter) | KRIT1 | Pathogenic | 7 | 91852280 | 91852280 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194456.1(KRIT1):c.1146+1G>A | KRIT1 | Pathogenic | 7 | 91855839 | 91855839 | C | T | criteria provided, multiple submitters, no conflicts | - |