single nucleotide variant | NM_194454.3(KRIT1):c.1730+3A>C | KRIT1 | Likely pathogenic | 7 | 91843922 | 91843922 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_007217.4(PDCD10):c.558-2A>T | PDCD10 | Likely pathogenic | 3 | 167402179 | 167402179 | T | A | criteria provided, single submitter | - |
Deletion | NM_007217.4(PDCD10):c.501del (p.Phe167fs) | PDCD10 | Likely pathogenic | 3 | 167405078 | 167405078 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.496G>T (p.Glu166Ter) | PDCD10 | Likely pathogenic | 3 | 167405083 | 167405083 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.396-2A>T | PDCD10 | Likely pathogenic | 3 | 167405483 | 167405483 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.395+1G>A | PDCD10 | Likely pathogenic | 3 | 167413383 | 167413383 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.269-1G>C | PDCD10 | Likely pathogenic | 3 | 167413511 | 167413511 | C | G | criteria provided, single submitter | - |
Deletion | NM_007217.4(PDCD10):c.268+1del | PDCD10 | Likely pathogenic | 3 | 167414796 | 167414796 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.150+1G>T | PDCD10 | Likely pathogenic | 3 | 167422629 | 167422629 | C | A | criteria provided, single submitter | - |
Deletion | NM_007217.4(PDCD10):c.117del (p.Ala40fs) | PDCD10 | Likely pathogenic | 3 | 167422663 | 167422663 | CA | C | criteria provided, single submitter | - |