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.35del (p.Glu12fs)	PALB2	Pathogenic	16	23652444	23652444	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580061
single nucleotide variant	NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)	PALB2	Pathogenic	16	23652436	23652436	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299713
single nucleotide variant	NM_024675.4(PALB2):c.48G>A (p.Lys16=)	PALB2	Pathogenic/Likely pathogenic	16	23652431	23652431	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294568
single nucleotide variant	NM_024675.4(PALB2):c.48+1G>A	PALB2	Likely pathogenic	16	23652430	23652430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395140998
Deletion	NM_024675.4(PALB2):c.48+1del	PALB2	Likely pathogenic	16	23652430	23652430	AC	A	criteria provided, single submitter	ClinGen:CA16609608
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	NC_000016.10:g.(?_23634852)_(23638139_?)del	PALB2	Pathogenic	16	23646173	23649460	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.49-1G>A	PALB2	Likely pathogenic	16	23649451	23649451	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)	PALB2	Pathogenic	16	23649449	23649449	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)	PALB2	Pathogenic	16	23649437	23649437	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963863