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
single nucleotide variant	NM_024675.4(PALB2):c.108+1G>A	PALB2	Likely pathogenic	16	23649390	23649390	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609606
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
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
Duplication	NM_024675.4(PALB2):c.117_120dup (p.Ala41fs)	PALB2	Likely pathogenic	16	23649261	23649262	C	CTCTT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.156del (p.Glu53fs)	PALB2	Pathogenic	16	23649226	23649226	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294551
single nucleotide variant	NM_024675.4(PALB2):c.163C>T (p.Gln55Ter)	PALB2	Pathogenic	16	23649219	23649219	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620162
single nucleotide variant	NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)	PALB2	Pathogenic/Likely pathogenic	16	23649204	23649204	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588615
single nucleotide variant	NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	PALB2	Pathogenic/Likely pathogenic	16	23649186	23649186	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA187393
Deletion	NM_024675.4(PALB2):c.204del (p.Lys68fs)	PALB2	Pathogenic	16	23649178	23649178	GT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.211+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23649170	23649170	C	A	criteria provided, multiple submitters, no conflicts	-