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.3385C>T (p.Gln1129Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32911877	32911877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387776436
Duplication	NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs)	BRCA2	Pathogenic	13	32911945	32911946	C	CTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656410
Deletion	NM_000059.4(BRCA2):c.3811del (p.Ser1271fs)	BRCA2	Pathogenic	13	32912301	32912301	GT	G	criteria provided, single submitter	ClinGen:CA658656322
Duplication	NM_000059.4(BRCA2):c.7dup (p.Ile3fs)	BRCA2	Pathogenic	13	32890603	32890604	T	TA	criteria provided, single submitter	ClinGen:CA658656319
Indel	NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs)	BRCA2	Pathogenic	13	32890629	32890630	TT	A	criteria provided, single submitter	ClinGen:CA658656321
single nucleotide variant	NM_000059.4(BRCA2):c.793+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32905168	32905168	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA387760275
Deletion	NM_000059.4(BRCA2):c.1844del (p.Asn615fs)	BRCA2	Pathogenic	13	32907458	32907458	TA	T	criteria provided, single submitter	ClinGen:CA658656344
Deletion	NM_000059.4(BRCA2):c.2105_2106del (p.Ile702fs)	BRCA2	Pathogenic	13	32910597	32910598	ATT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656357
Deletion	NM_000059.4(BRCA2):c.6085del (p.Glu2029fs)	BRCA2	Pathogenic	13	32914577	32914577	AG	A	criteria provided, single submitter	ClinGen:CA658656413
single nucleotide variant	NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter)	BRCA2	Pathogenic	13	32910736	32910736	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA387770853