家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.7423G>T (p.Glu2475Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32929413	32929413	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32913413	32913413	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912428	32912428	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912404	32912405	CTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1846del (p.Cys616fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907461	32907461	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32899272	32899272	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)	BRCA2	Pathogenic/Likely pathogenic	13	32899298	32899299	T	TCTAAATTC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.1910-1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32910401	32910401	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244210	41244211	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3791del (p.Lys1264fs)	BRCA1	Pathogenic/Likely pathogenic	17	41243757	41243757	CT	C	criteria provided, multiple submitters, no conflicts	-