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.68-1G>C	BRCA2	Pathogenic	13	32893213	32893213	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)	CDKN2A	Pathogenic	9	21974792	21974792	G	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.544G>T (p.Glu182Ter)	BRCA2	Pathogenic	13	32900663	32900663	G	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.963_966del (p.Gln321_Lys322insTer)	BRCA2	Pathogenic	13	32906577	32906580	CAAAA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1041del (p.Gln347_Val348insTer)	BRCA2	Pathogenic	13	32906655	32906655	CA	C	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.1758_1759del (p.Lys586fs)	BRCA2	Pathogenic	13	32907371	32907372	GAA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.2122del (p.Ser708fs)	BRCA2	Pathogenic	13	32910613	32910613	AT	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3531_3532del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912022	32912023	GAC	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3880_3884del (p.Leu1294fs)	BRCA2	Pathogenic	13	32912371	32912375	TATTAC	T	criteria provided, single submitter	-