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PALB2変異陽性乳がん・膵臓がん
腫瘍性疾患
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https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_024675.4(PALB2):c.1424dup (p.Arg476fs) | PALB2 | Pathogenic | 16 | 23646442 | 23646443 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614897 |
| Insertion | NM_024675.4(PALB2):c.932_933insC (p.Lys311fs) | PALB2 | Pathogenic | 16 | 23646934 | 23646935 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16614904 |
| single nucleotide variant | NM_024675.4(PALB2):c.3351-2A>G | PALB2 | Likely pathogenic | 16 | 23614992 | 23614992 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615066 |
| single nucleotide variant | NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter) | PALB2 | Pathogenic | 16 | 23637594 | 23637594 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615083 |
| single nucleotide variant | NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646501 | 23646501 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615101 |
| Duplication | NM_024675.4(PALB2):c.557dup (p.Asn186fs) | PALB2 | Pathogenic | 16 | 23647309 | 23647310 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615116 |
| Deletion | NM_024675.4(PALB2):c.552del (p.Ser184fs) | PALB2 | Pathogenic | 16 | 23647315 | 23647315 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615120 |
| Deletion | NM_024675.4(PALB2):c.355del (p.Gln119fs) | PALB2 | Pathogenic | 16 | 23647512 | 23647512 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615125 |
| single nucleotide variant | NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter) | PALB2 | Pathogenic | 16 | 23641100 | 23641100 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615240 |
| single nucleotide variant | NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter) | PALB2 | Pathogenic | 16 | 23646819 | 23646819 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16615273 |
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