single nucleotide variant | NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter) | PDCD10 | Pathogenic | 3 | 167413457 | 167413457 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA355154555 |
Deletion | NM_007217.4(PDCD10):c.160_163del (p.Glu54fs) | PDCD10 | Pathogenic | 3 | 167414902 | 167414905 | TTTTC | T | criteria provided, single submitter | ClinGen:CA658657345 |
single nucleotide variant | NM_007217.4(PDCD10):c.474+5G>A | PDCD10 | Pathogenic/Likely pathogenic | 3 | 167405398 | 167405398 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657344 |
single nucleotide variant | NM_007217.4(PDCD10):c.558-2A>C | PDCD10 | Pathogenic | 3 | 167402179 | 167402179 | T | G | criteria provided, single submitter | ClinGen:CA355153966 |
single nucleotide variant | NM_007217.4(PDCD10):c.150+1G>A | PDCD10 | Pathogenic/Likely pathogenic | 3 | 167422629 | 167422629 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA355154977 |
single nucleotide variant | NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) | PDCD10 | Pathogenic | 3 | 167422677 | 167422677 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16042486,OMIM:609118.0001,OMIM:609118.0003 |
Duplication | NM_007217.4(PDCD10):c.467dup (p.Asn156fs) | PDCD10 | Pathogenic | 3 | 167405409 | 167405410 | G | GT | criteria provided, single submitter | ClinGen:CA10602867 |
single nucleotide variant | NM_007217.4(PDCD10):c.475-1G>A | PDCD10 | Pathogenic | 3 | 167405105 | 167405105 | C | T | criteria provided, single submitter | OMIM:609118.0006 |