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.715dup (p.Ser239fs)	BRCA2	Pathogenic	13	32905086	32905087	G	GA	reviewed by expert panel	ClinGen:CA10589042
Deletion	NM_000059.4(BRCA2):c.723del (p.Asn243fs)	BRCA2	Pathogenic	13	32905097	32905097	AG	A	reviewed by expert panel	ClinGen:CA10589043
Duplication	NM_000059.4(BRCA2):c.728dup (p.Asn243fs)	BRCA2	Pathogenic	13	32905097	32905098	G	GA	reviewed by expert panel	ClinGen:CA10589044
Insertion	NM_000059.4(BRCA2):c.729_730insC (p.Asp244fs)	BRCA2	Pathogenic	13	32905103	32905104	T	TC	reviewed by expert panel	ClinGen:CA10589045
Duplication	NM_000059.4(BRCA2):c.729dup (p.Asp244Ter)	BRCA2	Pathogenic	13	32905102	32905103	A	AT	reviewed by expert panel	ClinGen:CA10589046
Deletion	NM_000059.4(BRCA2):c.736_755del (p.Phe246fs)	BRCA2	Pathogenic	13	32905107	32905126	TAGATTTATCGCTTCTGTGAC	T	reviewed by expert panel	ClinGen:CA10589047
Deletion	NM_000059.4(BRCA2):c.739_740del (p.Ile247fs)	BRCA2	Pathogenic	13	32905112	32905113	TTA	T	reviewed by expert panel	ClinGen:CA10589048
Deletion	NM_000059.4(BRCA2):c.743del (p.Ala248fs)	BRCA2	Pathogenic	13	32905117	32905117	GC	G	reviewed by expert panel	ClinGen:CA10589049
Deletion	NM_000059.4(BRCA2):c.757_758del (p.Asp252_Ser253insTer)	BRCA2	Pathogenic	13	32905131	32905132	CAG	C	reviewed by expert panel	ClinGen:CA10589050
Indel	NM_000059.3(BRCA2):c.765_770delinsAAACAAT (p.Asn255fs)	BRCA2	Pathogenic	13	32905139	32905144	CACAAA	AAACAAT	reviewed by expert panel	ClinGen:CA10589051