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
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	-
Insertion	NM_000059.4(BRCA2):c.8826_8827insG (p.Gln2943fs)	BRCA2	Pathogenic	13	32953525	32953526	T	TG	reviewed by expert panel	-
Duplication	NM_000059.4(BRCA2):c.8982_8985dup (p.Leu2996fs)	BRCA2	Pathogenic	13	32953914	32953915	C	CAGAT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9017_9018insTCTA (p.Arg3007fs)	BRCA2	Pathogenic	13	32953948	32953949	A	ATATC	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9096_9097insT (p.Thr3033fs)	BRCA2	Pathogenic	13	32954029	32954030	A	AT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9193_9194insA (p.Phe3065fs)	BRCA2	Pathogenic	13	32954219	32954220	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9218_9219insTTTA (p.Ile3075fs)	BRCA2	Pathogenic	13	32954243	32954244	G	GATTT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.9310_9311insTTAT (p.Lys3104fs)	BRCA2	Pathogenic	13	32968879	32968880	A	ATTAT	reviewed by expert panel	-