家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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
Deletion	NM_007294.3(BRCA1):c.4358-?_5074+?del	BRCA1	Likely pathogenic	17	41219625	41228631	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41228505)_(41234592_?)dup	BRCA1	Likely pathogenic	17	41228505	41234592	na	na	criteria provided, single submitter	-
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
Deletion	NM_024675.4(PALB2):c.695del (p.Gly232fs)	PALB2	Pathogenic	16	23647172	23647172	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615300