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.2650G>T (p.Glu884Ter)	PALB2	Pathogenic	16	23637655	23637655	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395122125
Deletion	NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)	PALB2	Pathogenic/Likely pathogenic	16	23641044	23641045	GGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798576
single nucleotide variant	NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614847	23614847	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137923
Deletion	NM_024675.4(PALB2):c.1362del (p.Asn455fs)	PALB2	Pathogenic	16	23646505	23646505	TG	T	criteria provided, single submitter	ClinGen:CA658798558
single nucleotide variant	NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)	PALB2	Pathogenic	16	23641491	23641491	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395127256
single nucleotide variant	NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)	PALB2	Pathogenic	16	23646419	23646419	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395131234
Deletion	NM_024675.4(PALB2):c.338del (p.Pro113fs)	PALB2	Pathogenic	16	23647529	23647529	TG	T	criteria provided, single submitter	ClinGen:CA658798564
Deletion	NM_024675.4(PALB2):c.899del (p.Thr300fs)	PALB2	Pathogenic	16	23646968	23646968	TG	T	criteria provided, single submitter	ClinGen:CA658798559
Deletion	NM_024675.4(PALB2):c.693del (p.Gly232fs)	PALB2	Pathogenic	16	23647174	23647174	CT	C	criteria provided, single submitter	ClinGen:CA658798561
single nucleotide variant	NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)	PALB2	Pathogenic	16	23634417	23634417	T	A	criteria provided, single submitter	ClinGen:CA395144397