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
Duplication	NM_000059.4(BRCA2):c.6723dup (p.Asp2242fs)	BRCA2	Pathogenic	13	32915214	32915215	C	CA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.6947_6948insTT (p.Lys2316fs)	BRCA2	Pathogenic	13	32920973	32920974	A	ATT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7023_7024insTG (p.Gln2342fs)	BRCA2	Pathogenic	13	32929013	32929014	T	TTG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7233_7234insG (p.Thr2412fs)	BRCA2	Pathogenic	13	32929223	32929224	A	AG	reviewed by expert panel	-
Deletion	NM_000059.4(BRCA2):c.7308del (p.Asn2436fs)	BRCA2	Pathogenic	13	32929298	32929298	AC	A	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7378_7379insG (p.Asn2460fs)	BRCA2	Pathogenic	13	32929368	32929369	A	AG	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7463_7464insTA (p.Arg2488fs)	BRCA2	Pathogenic	13	32930592	32930593	G	GTA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7484_7485insA (p.Ile2495_Lys2496insTer)	BRCA2	Pathogenic	13	32930613	32930614	T	TA	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7524_7525insT (p.Ser2509Ter)	BRCA2	Pathogenic	13	32930653	32930654	C	CT	reviewed by expert panel	-
Insertion	NM_000059.4(BRCA2):c.7594_7595insTT (p.Pro2532fs)	BRCA2	Pathogenic	13	32930723	32930724	C	CTT	reviewed by expert panel	-