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.3303_3336dup (p.Glu1113Ter)	BRCA2	Pathogenic	13	32911792	32911793	C	CCATAATTTAACACCTAGCCAAAAGGCAGAAATTA	reviewed by expert panel	ClinGen:CA10589197
Deletion	NM_000059.4(BRCA2):c.3335del (p.Thr1112fs)	BRCA2	Pathogenic	13	32911827	32911827	AC	A	reviewed by expert panel	ClinGen:CA10589198
Deletion	NM_000059.4(BRCA2):c.3337_3338del (p.Glu1113fs)	BRCA2	Pathogenic	13	32911828	32911829	CAG	C	reviewed by expert panel	ClinGen:CA10589199
Deletion	NM_000059.4(BRCA2):c.3346_3347del (p.Thr1116fs)	BRCA2	Pathogenic	13	32911838	32911839	TAC	T	reviewed by expert panel	ClinGen:CA10589200
Deletion	NM_000059.4(BRCA2):c.3390del (p.Phe1130fs)	BRCA2	Pathogenic	13	32911880	32911880	GT	G	reviewed by expert panel	ClinGen:CA10589201
Deletion	NM_000059.4(BRCA2):c.3409_3421del (p.Leu1137fs)	BRCA2	Pathogenic	13	32911899	32911911	ATATTGCAGAAGAG	A	reviewed by expert panel	ClinGen:CA10589202
Deletion	NM_000059.4(BRCA2):c.3451_3452del (p.Ile1151fs)	BRCA2	Pathogenic	13	32911942	32911943	CTA	C	reviewed by expert panel	ClinGen:CA10589203
Deletion	NM_000059.4(BRCA2):c.3489del (p.Leu1164fs)	BRCA2	Pathogenic	13	32911981	32911981	AT	A	reviewed by expert panel	ClinGen:CA10589204
Duplication	NM_000059.4(BRCA2):c.3492dup (p.His1165fs)	BRCA2	Pathogenic	13	32911982	32911983	C	CT	reviewed by expert panel	ClinGen:CA10589205
Deletion	NM_000059.4(BRCA2):c.3497del (p.Val1166fs)	BRCA2	Pathogenic	13	32911989	32911989	GT	G	reviewed by expert panel	ClinGen:CA10589206