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
Duplication	NM_024675.4(PALB2):c.1947dup (p.Glu650fs)	PALB2	Pathogenic/Likely pathogenic	16	23641527	23641528	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA269515
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.2145_2146del (p.Asp715fs)	PALB2	Pathogenic	16	23641329	23641330	TTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269522
Deletion	NM_024675.4(PALB2):c.229del (p.Cys77fs)	PALB2	Pathogenic	16	23647638	23647638	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA331794
single nucleotide variant	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	PALB2	Pathogenic	16	23641152	23641152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA192039,OMIM:610355.0012
single nucleotide variant	NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641089	23641089	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA163823
single nucleotide variant	PALB2:c.2515-1G>T	PALB2	Likely pathogenic	16	23640597	23640597	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114879,OMIM:610355.0008
single nucleotide variant	NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	PALB2	Likely pathogenic	16	23640552	23640552	G	A	reviewed by expert panel	ClinGen:CA269540
Duplication	NM_024675.4(PALB2):c.2686dup (p.Ser896fs)	PALB2	Pathogenic/Likely pathogenic	16	23637618	23637619	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA269557
single nucleotide variant	NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)	PALB2	Pathogenic	16	23637587	23637587	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269561