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.9357_9360del (p.Ile3120fs)	BRCA2	Pathogenic	13	32968924	32968927	GTTAA	G	reviewed by expert panel	ClinGen:CA10589563
Deletion	NM_000059.4(BRCA2):c.9381_9388del (p.Trp3127_Glu3130delinsTer)	BRCA2	Pathogenic	13	32968949	32968956	TGGCGACCA	T	reviewed by expert panel	ClinGen:CA10589564
single nucleotide variant	NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter)	BRCA2	Pathogenic	13	32968982	32968982	T	G	reviewed by expert panel	ClinGen:CA10589565
Deletion	NM_000059.4(BRCA2):c.9418_9430del (p.Ala3140fs)	BRCA2	Pathogenic	13	32968984	32968996	ATTTGCTGGAGATT	A	reviewed by expert panel	ClinGen:CA10589566
Deletion	NM_000059.4(BRCA2):c.9423del (p.Asp3142fs)	BRCA2	Pathogenic	13	32968992	32968992	GA	G	reviewed by expert panel	ClinGen:CA10589567
Duplication	NM_000059.4(BRCA2):c.9440dup (p.Ala3148fs)	BRCA2	Pathogenic	13	32969008	32969009	T	TC	reviewed by expert panel	ClinGen:CA10589568
Deletion	NM_000059.4(BRCA2):c.9453del (p.Glu3152fs)	BRCA2	Pathogenic	13	32969019	32969019	CA	C	reviewed by expert panel	ClinGen:CA10589569
Deletion	NM_000059.4(BRCA2):c.9537_9544del (p.Leu3180fs)	BRCA2	Pathogenic	13	32971070	32971077	AGCTTATGC	A	reviewed by expert panel	ClinGen:CA10589570
Duplication	NM_000059.4(BRCA2):c.9550_9563dup (p.Pro3189fs)	BRCA2	Pathogenic	13	32971081	32971082	T	TACTGCATGCAAATG	reviewed by expert panel	ClinGen:CA10589571
single nucleotide variant	NM_000059.4(BRCA2):c.9739C>T (p.Gln3247Ter)	BRCA2	Pathogenic	13	32972389	32972389	C	T	reviewed by expert panel	ClinGen:CA10589572