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.316+1G>T	BRCA2	Pathogenic	13	32893463	32893463	G	T	reviewed by expert panel	ClinGen:CA017366
Indel	NM_000059.4(BRCA2):c.593_596delinsAGG (p.Leu198_Ala199delinsTer)	BRCA2	Pathogenic	13	32900712	32900715	TAGC	AGG	reviewed by expert panel	ClinGen:CA023386
single nucleotide variant	NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)	BRCA2	Pathogenic	13	32906414	32906414	G	T	reviewed by expert panel	ClinGen:CA025393
Duplication	NM_000059.4(BRCA2):c.1163_1166dup (p.Ser390fs)	BRCA2	Pathogenic	13	32906777	32906778	G	GTACC	reviewed by expert panel	ClinGen:CA194191
Deletion	NM_000059.4(BRCA2):c.1308_1309del (p.Lys437fs)	BRCA2	Pathogenic	13	32906922	32906923	AAG	A	reviewed by expert panel	ClinGen:CA011541
Deletion	NM_000059.4(BRCA2):c.1552del (p.Ala518fs)	BRCA2	Pathogenic	13	32907167	32907167	TG	T	reviewed by expert panel	ClinGen:CA012388
Deletion	NM_000059.4(BRCA2):c.1855del (p.Gln619fs)	BRCA2	Pathogenic	13	32907468	32907468	GC	G	reviewed by expert panel	ClinGen:CA013637
single nucleotide variant	NM_000059.4(BRCA2):c.1960G>T (p.Glu654Ter)	BRCA2	Pathogenic	13	32910452	32910452	G	T	reviewed by expert panel	ClinGen:CA014026
single nucleotide variant	NM_000059.4(BRCA2):c.2494G>T (p.Glu832Ter)	BRCA2	Pathogenic	13	32910986	32910986	G	T	reviewed by expert panel	ClinGen:CA015478
single nucleotide variant	NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)	BRCA2	Pathogenic	13	32911104	32911104	C	G	reviewed by expert panel	ClinGen:CA015833