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.9218_9219insATTT (p.Asp3073fs)	BRCA2	Pathogenic	13	32954244	32954245	A	AATTT	reviewed by expert panel	ClinGen:CA10589553
Duplication	NM_000059.4(BRCA2):c.9254dup (p.Gly3086fs)	BRCA2	Pathogenic	13	32954279	32954280	A	AC	reviewed by expert panel	ClinGen:CA10589554
Deletion	NM_000059.4(BRCA2):c.9277_9287del (p.Leu3093fs)	BRCA2	Pathogenic	13	32968846	32968856	TTTGTCAGACGA	T	reviewed by expert panel	ClinGen:CA10589555
Deletion	NM_000059.4(BRCA2):c.9291_9306del (p.Glu3096_Cys3097insTer)	BRCA2	Pathogenic	13	32968860	32968875	GTTACAATTTACTGGCA	G	reviewed by expert panel	ClinGen:CA10589556
Duplication	NM_000059.4(BRCA2):c.9311dup (p.Phe3105fs)	BRCA2	Pathogenic	13	32968877	32968878	T	TA	reviewed by expert panel	ClinGen:CA10589557
Indel	NM_000059.4(BRCA2):c.9331_9335delinsCCT (p.Glu3111fs)	BRCA2	Pathogenic	13	32968900	32968904	GAGGA	CCT	reviewed by expert panel	ClinGen:CA10589558
Deletion	NM_000059.4(BRCA2):c.9350del (p.His3117fs)	BRCA2	Pathogenic	13	32968919	32968919	CA	C	reviewed by expert panel	ClinGen:CA10589559
Duplication	NM_000059.4(BRCA2):c.9351dup (p.Met3118fs)	BRCA2	Pathogenic	13	32968919	32968920	A	AT	reviewed by expert panel	ClinGen:CA10589560
Insertion	NM_000059.4(BRCA2):c.9352_9353insAT (p.Met3118fs)	BRCA2	Pathogenic	13	32968921	32968922	A	AAT	reviewed by expert panel	ClinGen:CA10589561
Deletion	NM_000059.4(BRCA2):c.9354_9355del (p.Met3118fs)	BRCA2	Pathogenic	13	32968922	32968923	ATG	A	reviewed by expert panel	ClinGen:CA10589562