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.2749-1G>T	PALB2	Likely pathogenic	16	23635416	23635416	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609292
single nucleotide variant	NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)	PALB2	Pathogenic	16	23637632	23637632	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395122040
Duplication	NM_024675.4(PALB2):c.2607dup (p.Val870fs)	PALB2	Pathogenic	16	23637697	23637698	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683918
single nucleotide variant	NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)	PALB2	Pathogenic	16	23641011	23641011	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395124102
Duplication	NM_024675.4(PALB2):c.1619dup (p.Asn540fs)	PALB2	Pathogenic	16	23646247	23646248	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683935
Deletion	NM_024675.4(PALB2):c.667del (p.Ile223fs)	PALB2	Pathogenic	16	23647200	23647200	AT	A	criteria provided, single submitter	ClinGen:CA658683920
Deletion	NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)	PALB2	Pathogenic/Likely pathogenic	16	23637698	23637698	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963511
Deletion	NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)	PALB2	Likely pathogenic	16	23647035	23647038	AGGTC	A	criteria provided, single submitter	ClinGen:CA658683917
single nucleotide variant	NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)	PALB2	Pathogenic	16	23614818	23614818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137833
single nucleotide variant	NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)	PALB2	Pathogenic	16	23637611	23637611	C	T	criteria provided, single submitter	ClinGen:CA395121972