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.5338dup (p.Glu1780fs)	BRCA2	Pathogenic	13	32913829	32913830	T	TG	reviewed by expert panel	ClinGen:CA10589309
Duplication	NM_000059.4(BRCA2):c.5350_5351dup (p.Asn1784fs)	BRCA2	Pathogenic	13	32913836	32913837	C	CAA	reviewed by expert panel	ClinGen:CA10589310
Duplication	NM_000059.4(BRCA2):c.5353dup (p.Thr1785fs)	BRCA2	Pathogenic	13	32913844	32913845	C	CA	reviewed by expert panel	ClinGen:CA10589311
single nucleotide variant	NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter)	BRCA2	Pathogenic	13	32913857	32913857	A	T	reviewed by expert panel	ClinGen:CA10589312
Duplication	NM_000059.4(BRCA2):c.5442_5445dup (p.Ser1816delinsAspTer)	BRCA2	Pathogenic	13	32913932	32913933	G	GTGAC	reviewed by expert panel	ClinGen:CA10589313
Duplication	NM_000059.4(BRCA2):c.5459_5460dup (p.Lys1821fs)	BRCA2	Pathogenic	13	32913950	32913951	T	TGC	reviewed by expert panel	ClinGen:CA10589314
Insertion	NM_000059.4(BRCA2):c.5472_5473insA (p.Ala1825fs)	BRCA2	Pathogenic	13	32913964	32913965	T	TA	reviewed by expert panel	ClinGen:CA10589315
Deletion	NM_000059.4(BRCA2):c.5550_5551del (p.Lys1850fs)	BRCA2	Pathogenic	13	32914040	32914041	TAA	T	reviewed by expert panel	ClinGen:CA10589316
Indel	NM_000059.3(BRCA2):c.5550_5566delinsTTGGCT (p.Lys1850fs)	BRCA2	Pathogenic	13	32914042	32914058	AATCGTTTGTGTTTCAC	TTGGCT	reviewed by expert panel	ClinGen:CA10589317
Deletion	NM_000059.4(BRCA2):c.5554_5560del (p.Val1852fs)	BRCA2	Pathogenic	13	32914046	32914052	CGTTTGTG	C	reviewed by expert panel	ClinGen:CA10589318