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
single nucleotide variant	NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)	BRCA2	Likely pathogenic	13	32907263	32907263	G	T	criteria provided, single submitter	ClinGen:CA387764993
Duplication	NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)	BRCA2	Pathogenic/Likely pathogenic	13	32913691	32913692	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683841
single nucleotide variant	NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)	BRCA2	Likely pathogenic	13	32914608	32914608	T	G	criteria provided, single submitter	ClinGen:CA387788150
Duplication	NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs)	BRCA2	Likely pathogenic	13	32929392	32929393	G	GT	criteria provided, single submitter	ClinGen:CA658683844
Insertion	NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)	BRCA2	Likely pathogenic	13	32969033	32969034	T	TTTGA	criteria provided, single submitter	ClinGen:CA658683822
Deletion	NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905091	32905092	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683831
Deletion	NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912230	32912233	ATATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683869
Deletion	NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)	PALB2	Pathogenic/Likely pathogenic	16	23637698	23637698	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963511
Deletion	NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)	PALB2	Likely pathogenic	16	23647035	23647038	AGGTC	A	criteria provided, single submitter	ClinGen:CA658683917
Duplication	NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)	BRCA2	Likely pathogenic	13	32912760	32912761	C	CT	criteria provided, single submitter	ClinGen:CA658683807