Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_007217.4(PDCD10):c.268+1G>A | PDCD10 | Pathogenic | 3 | 167414796 | 167414796 | C | T | criteria provided, single submitter | ClinGen:CA355154691 |
Deletion | NM_007217.4(PDCD10):c.268+1del | PDCD10 | Likely pathogenic | 3 | 167414796 | 167414796 | AC | A | criteria provided, single submitter | - |
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.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.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 | - |
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 |
Deletion | NC_000003.12:g.(?_167684288)_(167720177_?)del | PDCD10 | Pathogenic | 3 | 167402076 | 167437965 | na | na | criteria provided, single submitter | - |