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_007294.4(BRCA1):c.72T>G (p.Cys24Trp)	BRCA1	Pathogenic	17	41276042	41276042	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000017.10:g.(?_41219605)_(41219732_?)dup	BRCA1	Pathogenic	17	41219605	41219732	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43070908)_(43125483_?)del	BRCA1	Pathogenic	17	41222925	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104848)_(43106553_?)del	BRCA1	Pathogenic	17	41256865	41258570	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>T	BRCA1	Pathogenic	17	41256975	41256975	T	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43047623)_(43125483_?)del	BRCA1	Pathogenic	17	41199640	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43074311)_(43115799_?)del	BRCA1	Pathogenic	17	41226328	41267816	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104102)_(43125483_?)del	BRCA1	Pathogenic	17	41256119	41277500	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.5074+2T>A	BRCA1	Pathogenic	17	41219623	41219623	A	T	criteria provided, multiple submitters, no conflicts	-