Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000016.10:g.(?_23637840)_(23641167_?)del | PALB2 | Pathogenic | 16 | 23649161 | 23652488 | na | na | criteria provided, single submitter | - |
Deletion | NM_001407299.1(PALB2):c.3113+7271del | PALB2 | Pathogenic | 16 | 23625412 | 23625412 | TC | T | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_23613994)_(23624104_?)del | PALB2 | Likely pathogenic | 16 | 23625315 | 23635425 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_024675.4(PALB2):c.3113+5G>A | PALB2 | Likely pathogenic | 16 | 23632678 | 23632678 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024675.4(PALB2):c.211+1G>T | PALB2 | Pathogenic/Likely pathogenic | 16 | 23649170 | 23649170 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000016.10:g.(?_23603449)_(23614101_?)del | PALB2 | Pathogenic | 16 | 23614770 | 23625422 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_23634852)_(23641167_?)del | PALB2 | Pathogenic | 16 | 23646173 | 23652488 | na | na | criteria provided, single submitter | - |