PALB2変異陽性乳がん・膵臓がん

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
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