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.6141T>G (p.Tyr2047Ter)	BRCA2	Pathogenic	13	32914633	32914633	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter)	BRCA2	Pathogenic	13	32914992	32914992	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter)	BRCA2	Pathogenic	13	32915292	32915292	C	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)	BRCA2	Pathogenic/Likely pathogenic	13	32918736	32918740	CAGGAT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs)	BRCA2	Likely pathogenic	13	32931888	32931889	GTA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32945167	32945167	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs)	PALB2	Pathogenic	16	23646315	23646316	GAT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.613G>T (p.Glu205Ter)	PALB2	Likely pathogenic	16	23647254	23647254	C	A	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	-
Duplication	NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs)	BRCA1	Pathogenic/Likely pathogenic	17	41244210	41244211	T	TA	criteria provided, multiple submitters, no conflicts	-