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
single nucleotide variant	NM_000059.4(BRCA2):c.6395T>G (p.Leu2132Ter)	BRCA2	Pathogenic	13	32914887	32914887	T	G	reviewed by expert panel	ClinGen:CA387789224
single nucleotide variant	NM_000059.4(BRCA2):c.2596G>T (p.Glu866Ter)	BRCA2	Pathogenic	13	32911088	32911088	G	T	criteria provided, single submitter	ClinGen:CA387772621
Deletion	NM_000059.4(BRCA2):c.6975_6976del (p.Ser2326fs)	BRCA2	Pathogenic	13	32921000	32921001	GTT	G	criteria provided, single submitter	ClinGen:CA658656386
Deletion	NM_000059.4(BRCA2):c.6981_7005del (p.Leu2327fs)	BRCA2	Pathogenic	13	32921003	32921027	TCTTTAGAGCCGATTACCTGTGTACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656387
single nucleotide variant	NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)	BRCA2	Pathogenic	13	32954173	32954173	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757888
Deletion	NM_000059.4(BRCA2):c.9219_9228del (p.Ile3075fs)	BRCA2	Pathogenic	13	32954242	32954251	TGGACCTAATA	T	criteria provided, single submitter	ClinGen:CA658656440
Deletion	NM_000059.4(BRCA2):c.7230del (p.Phe2410fs)	BRCA2	Pathogenic	13	32929217	32929217	CT	C	reviewed by expert panel	ClinGen:CA658656409
Duplication	NM_000059.4(BRCA2):c.9225dup (p.Gly3076fs)	BRCA2	Pathogenic	13	32954250	32954251	T	TA	criteria provided, single submitter	ClinGen:CA658656443
Duplication	NM_000059.4(BRCA2):c.9423dup (p.Asp3142fs)	BRCA2	Pathogenic	13	32968991	32968992	G	GA	criteria provided, single submitter	ClinGen:CA658656367
single nucleotide variant	NM_000059.4(BRCA2):c.8494G>T (p.Glu2832Ter)	BRCA2	Pathogenic	13	32945099	32945099	G	T	criteria provided, single submitter	ClinGen:CA387752671