Deletion | NC_000003.12:g.(?_167684288)_(167720177_?)del | PDCD10 | Pathogenic | 3 | 167402076 | 167437965 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter) | PDCD10 | Pathogenic | 3 | 167413385 | 167413385 | T | 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 | - |
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.268+1del | PDCD10 | Likely pathogenic | 3 | 167414796 | 167414796 | AC | A | 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 | - |
single nucleotide variant | NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter) | PDCD10 | Pathogenic | 3 | 167413496 | 167413496 | G | A | criteria provided, multiple submitters, no conflicts | - |
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.395+2T>G | PDCD10 | Pathogenic | 3 | 167413382 | 167413382 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_007217.4(PDCD10):c.396-3C>G | PDCD10 | Pathogenic | 3 | 167405484 | 167405484 | G | C | criteria provided, single submitter | - |