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
Insertion	NM_000059.4(BRCA2):c.515_516insC (p.Lys172fs)	BRCA2	Pathogenic	13	32900418	32900419	A	AC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.565dup (p.Asp189fs)	BRCA2	Pathogenic	13	32900682	32900683	T	TG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.568_569insAACG (p.Pro190fs)	BRCA2	Pathogenic	13	32900687	32900688	C	CAACG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.612_613insTGAG (p.Ser205Ter)	BRCA2	Pathogenic	13	32900731	32900732	T	TTGAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.728_729insC (p.Asn243_Asp244insTer)	BRCA2	Pathogenic	13	32905102	32905103	A	AC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.739_740insAG (p.Ile247fs)	BRCA2	Pathogenic	13	32905113	32905114	A	AAG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.800dup (p.Thr269fs)	BRCA2	Pathogenic	13	32906413	32906414	T	TG	reviewed by expert panel	ClinGen:CA645509359
Insertion	NM_000059.4(BRCA2):c.896_897insC (p.Val300fs)	BRCA2	Pathogenic	13	32906511	32906512	T	TC	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.904dup (p.Thr302fs)	BRCA2	Pathogenic	13	32906518	32906519	T	TA	reviewed by expert panel	-
single nucleotide variant	NM_000059.4(BRCA2):c.926C>G (p.Ser309Ter)	BRCA2	Pathogenic	13	32906541	32906541	C	G	reviewed by expert panel	-