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.106C>T (p.Gln36Ter)	PALB2	Pathogenic	16	23649393	23649393	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609607
Deletion	NM_024675.4(PALB2):c.48+1del	PALB2	Likely pathogenic	16	23652430	23652430	AC	A	criteria provided, single submitter	ClinGen:CA16609608
Deletion	NC_000016.10:g.(?_23621362)_(23623130_?)del	PALB2	Likely pathogenic	16	23632683	23634451	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23621362)_(23626397_?)del	PALB2	Pathogenic	16	23632683	23637718	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23626236)_(23630469_?)del	PALB2	Pathogenic	16	23637557	23641790	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)	PALB2	Pathogenic	16	23625401	23625402	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614812
Deletion	NM_024675.4(PALB2):c.2936del (p.Ser979fs)	PALB2	Pathogenic	16	23634350	23634350	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614818
Deletion	NM_024675.4(PALB2):c.2056del (p.Arg686fs)	PALB2	Pathogenic	16	23641419	23641419	CT	C	criteria provided, single submitter	ClinGen:CA16614833
Deletion	NM_024675.4(PALB2):c.1742del (p.Leu581fs)	PALB2	Pathogenic	16	23641733	23641733	TA	T	criteria provided, single submitter	ClinGen:CA16614842