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
Deletion	NC_000017.11:g.(?_43115720)_(43124102_?)del	BRCA1	Pathogenic	17	41267737	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43067602)_(43124102_?)del	BRCA1	Pathogenic	17	41219619	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43104116)_(43124102_?)del	BRCA1	Pathogenic	17	41256133	41276119	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41258551_41267742)_(41276114_?)del	BRCA1	Pathogenic	17	41258551	41276114	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(41228632_41234420)_(41276114_?)del	BRCA1	Pathogenic	17	41228632	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_80+?del	BRCA1	Pathogenic	17	41276034	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_134+?del	BRCA1	Pathogenic	17	41267743	41276114	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.(?_-1)_5074+?del	BRCA1	Pathogenic	17	41219625	41276114	na	na	criteria provided, single submitter	-
Deletion	Single allele	BRCA1	Pathogenic	17	41276034	41276113	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	BRCA1	Pathogenic	17	41276113	41276113	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001332