Deletion | NM_194454.3(KRIT1):c.747_750del (p.Asn250fs) | KRIT1 | Pathogenic | 7 | 91864217 | 91864220 | GATTT | G | criteria provided, single submitter | - |
Duplication | NM_194454.3(KRIT1):c.810dup (p.Trp271fs) | KRIT1 | Pathogenic | 7 | 91864156 | 91864157 | A | AT | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.1342del (p.Met448fs) | KRIT1 | Pathogenic | 7 | 91852205 | 91852205 | AT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter) | KRIT1 | Pathogenic | 7 | 91851221 | 91851221 | T | A | criteria provided, single submitter | - |
Duplication | NM_194454.3(KRIT1):c.1742_1748dup (p.Ile584fs) | KRIT1 | Pathogenic | 7 | 91843275 | 91843276 | G | GGATTTTA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter) | KRIT1 | Likely pathogenic | 7 | 91864957 | 91864957 | C | T | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.1775del (p.Ser592fs) | KRIT1 | Pathogenic | 7 | 91843249 | 91843249 | AC | A | criteria provided, single submitter | - |
Deletion | NM_194454.3(KRIT1):c.141_145del (p.Arg49fs) | KRIT1 | Likely pathogenic | 7 | 91870424 | 91870428 | CTCTTT | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_194454.3(KRIT1):c.249_250dup (p.Gln84fs) | KRIT1 | Likely pathogenic | 7 | 91870318 | 91870319 | T | TGG | criteria provided, single submitter | - |
single nucleotide variant | NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) | KRIT1 | Pathogenic | 7 | 91867068 | 91867068 | G | A | criteria provided, multiple submitters, no conflicts | - |