Deletion | NM_194454.3(KRIT1):c.363_369del (p.Lys122fs) | KRIT1 | Likely pathogenic | 7 | 91865843 | 91865849 | TGTATTTA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) | KRIT1 | Pathogenic | 7 | 91865794 | 91865794 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.488G>A (p.Trp163Ter) | KRIT1 | Likely pathogenic | 7 | 91864958 | 91864958 | C | T | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.587del (p.Ala196fs) | KRIT1 | Likely pathogenic | 7 | 91864859 | 91864859 | AG | A | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.674del (p.Ala225fs) | KRIT1 | Pathogenic/Likely pathogenic | 7 | 91864772 | 91864772 | TG | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_194454.3(KRIT1):c.679dup (p.Thr227fs) | KRIT1 | Pathogenic | 7 | 91864766 | 91864767 | G | GT | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter) | KRIT1 | Likely pathogenic | 7 | 91864739 | 91864739 | G | C | criteria provided, single submitter | - |
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.730-1G>A | KRIT1 | Pathogenic | 7 | 91864238 | 91864238 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_194454.3(KRIT1):c.790_794del (p.Gln264fs) | KRIT1 | Likely pathogenic | 7 | 91864173 | 91864177 | TATTTG | T | criteria provided, single submitter | - |