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.211+1G>A	PALB2	Likely pathogenic	16	23649170	23649170	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139005
Deletion	NC_000016.10:g.(?_23637840)_(23641167_?)del	PALB2	Pathogenic	16	23649161	23652488	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>T	PALB2	Likely pathogenic	16	23647657	23647657	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.212-2A>G	PALB2	Pathogenic/Likely pathogenic	16	23647657	23647657	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299700
single nucleotide variant	NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	PALB2	Pathogenic	16	23647644	23647644	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138968
Deletion	NM_024675.4(PALB2):c.226del (p.Ile76fs)	PALB2	Pathogenic/Likely pathogenic	16	23647641	23647641	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294388
Deletion	NM_024675.4(PALB2):c.229del (p.Cys77fs)	PALB2	Pathogenic	16	23647638	23647638	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA331794
Deletion	NM_024675.4(PALB2):c.232del (p.Val78fs)	PALB2	Pathogenic	16	23647635	23647635	AC	A	criteria provided, single submitter	ClinGen:CA658658448
Duplication	NM_024675.4(PALB2):c.274dup (p.Thr92fs)	PALB2	Pathogenic	16	23647592	23647593	G	GT	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.284dup (p.Thr96fs)	PALB2	Pathogenic	16	23647582	23647583	C	CT	criteria provided, single submitter	ClinGen:CA16614875