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
Deletion	NM_024675.4(PALB2):c.500_513del (p.Asp167fs)	PALB2	Pathogenic	16	23647354	23647367	ACAATCTGAGTGAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580040
Deletion	NM_024675.4(PALB2):c.466_467del (p.Ile156fs)	PALB2	Pathogenic/Likely pathogenic	16	23647400	23647401	AAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580042
single nucleotide variant	NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)	PALB2	Pathogenic	16	23647520	23647520	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580044
single nucleotide variant	NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)	PALB2	Pathogenic	16	23649267	23649267	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580053
single nucleotide variant	NM_024675.4(PALB2):c.48+2T>G	PALB2	Likely pathogenic	16	23652429	23652429	A	C	criteria provided, single submitter	ClinGen:CA10580057
Deletion	NM_024675.4(PALB2):c.35del (p.Glu12fs)	PALB2	Pathogenic	16	23652444	23652444	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580061
Deletion	NM_024675.3(PALB2):c.3351-?_*297del	PALB2	Pathogenic	16	23614483	23614990	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)	PALB2	Pathogenic	16	23614921	23614921	C	T	criteria provided, single submitter	ClinGen:CA10583349
single nucleotide variant	NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)	PALB2	Pathogenic	16	23637711	23637711	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583360
single nucleotide variant	NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)	PALB2	Pathogenic	16	23640966	23640966	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583361