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.2490_2491insT (p.Val831fs)	BRCA2	Pathogenic	13	32910982	32910983	C	CT	reviewed by expert panel	ClinGen:CA10589157
Deletion	NM_000059.4(BRCA2):c.2509_2513del (p.Glu837fs)	BRCA2	Pathogenic	13	32911001	32911005	TGAAAA	T	reviewed by expert panel	ClinGen:CA10589158
Deletion	NM_000059.4(BRCA2):c.2514del (p.Lys838fs)	BRCA2	Pathogenic	13	32911002	32911002	GA	G	reviewed by expert panel	ClinGen:CA10589159
Duplication	NM_000059.4(BRCA2):c.2514dup (p.Tyr839fs)	BRCA2	Pathogenic	13	32911001	32911002	G	GA	reviewed by expert panel	ClinGen:CA10589160
single nucleotide variant	NM_000059.4(BRCA2):c.2539A>T (p.Arg847Ter)	BRCA2	Pathogenic	13	32911031	32911031	A	T	reviewed by expert panel	ClinGen:CA10589161
Duplication	NM_000059.4(BRCA2):c.2539dup (p.Arg847fs)	BRCA2	Pathogenic	13	32911029	32911030	C	CA	reviewed by expert panel	ClinGen:CA10589162
Deletion	NM_000059.4(BRCA2):c.2553del (p.Phe851fs)	BRCA2	Pathogenic	13	32911045	32911045	TC	T	reviewed by expert panel	ClinGen:CA10589163
single nucleotide variant	NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)	BRCA2	Pathogenic	13	32911085	32911085	G	T	reviewed by expert panel	ClinGen:CA10589164
Deletion	NM_000059.4(BRCA2):c.2650del (p.Ser884fs)	BRCA2	Pathogenic	13	32911142	32911142	CT	C	reviewed by expert panel	ClinGen:CA10589165
Deletion	NM_000059.4(BRCA2):c.2657del (p.Asn886fs)	BRCA2	Pathogenic	13	32911148	32911148	CA	C	reviewed by expert panel	ClinGen:CA10589166