家族性膵がん - MGenReviews

家族性膵がん

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
Deletion	NM_000059.3(BRCA2):c.9257delG	BRCA2	Pathogenic	13	32968825	32968825	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798088
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
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