Deletion | NM_194454.3(KRIT1):c.674del (p.Ala225fs) | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91864772 | 91864772 | TG | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.729+1G>A | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91864716 | 91864716 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.845+2T>A | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91864120 | 91864120 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91863902 | 91863902 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter) | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91852175 | 91852175 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_031443.4(CCM2):c.1234dup (p.Arg412fs) | CCM2 | Pathogenic/Likely pathogenic | 7 | 45115553 | 45115554 | A | AC | criteria provided, multiple submitters, no conflicts | - |
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 | - |
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 | - |
Duplication | NM_007217.4(PDCD10):c.584dup (p.Asn195fs) | PDCD10 | Pathogenic/Likely pathogenic | 3 | 167402150 | 167402151 | G | GT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.730-1G>C | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91864238 | 91864238 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA368159107 |