遺伝性乳がん・卵巣がん症候群

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
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	-
Deletion	NM_000059.4(BRCA2):c.8592del (p.Leu2865fs)	BRCA2	Pathogenic	13	32945196	32945196	GC	G	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.8641_8642insTT (p.Thr2881fs)	BRCA2	Pathogenic	13	32950815	32950816	A	ATT	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.8761_8762del (p.Phe2921fs)	BRCA2	Pathogenic	13	32953459	32953460	ATT	A	reviewed by expert panel	-