家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.7674_7675insAAAC (p.Ser2559fs)	BRCA2	Pathogenic	13	32931935	32931936	G	GAAAC	reviewed by expert panel	-
Indel	NM_000059.4(BRCA2):c.7734_7739delAATACAinsCTGATGGTG	BRCA2	Pathogenic	13	32931995	32932000	AATACA	CTGATGGTG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7910_7911insGAAA (p.Phe2638fs)	BRCA2	Pathogenic	13	32936764	32936765	C	CGAAA	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.7939dup (p.Leu2647fs)	BRCA2	Pathogenic	13	32936791	32936792	G	GC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8048_8049insT (p.Thr2685fs)	BRCA2	Pathogenic	13	32937387	32937388	C	CT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8207_8208insAG (p.Leu2737fs)	BRCA2	Pathogenic	13	32937546	32937547	T	TAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8227_8228insA (p.Gly2743fs)	BRCA2	Pathogenic	13	32937566	32937567	G	GA	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.8249del (p.Lys2750fs)	BRCA2	Pathogenic	13	32937587	32937587	GA	G	reviewed by expert panel	-
Indel	NM_000059.3(BRCA2):c.8374_8384delinsAAG (p.Leu2792fs)	BRCA2	Pathogenic	13	32944581	32944591	CTTGGATTCTT	AAG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8433_8434insC (p.Gly2812fs)	BRCA2	Pathogenic	13	32944640	32944641	T	TC	reviewed by expert panel	-