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.338del (p.Pro113fs)	PALB2	Pathogenic	16	23647529	23647529	TG	T	criteria provided, single submitter	ClinGen:CA658798564
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
Deletion	NM_024675.4(PALB2):c.355del (p.Gln119fs)	PALB2	Pathogenic	16	23647512	23647512	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615125
Deletion	NM_024675.4(PALB2):c.395del (p.Val132fs)	PALB2	Pathogenic	16	23647472	23647472	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269628
Deletion	NM_024675.4(PALB2):c.396_397del (p.Val132_Ser133insTer)	PALB2	Pathogenic	16	23647470	23647471	CTG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)	PALB2	Likely pathogenic	16	23647446	23647446	G	A	criteria provided, single submitter	ClinGen:CA10588614
single nucleotide variant	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	PALB2	Pathogenic	16	23647443	23647443	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166400
Deletion	NM_024675.4(PALB2):c.444del (p.Lys149fs)	PALB2	Pathogenic/Likely pathogenic	16	23647423	23647423	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658447
single nucleotide variant	NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)	PALB2	Pathogenic	16	23647416	23647416	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294565
Duplication	NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)	PALB2	Pathogenic	16	23647409	23647410	C	CTCTTCTGCTGCTTCTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658445