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.(?_43045672)_(43047709_?)del	BRCA1	Pathogenic	17	41197689	41199726	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.(?_43070922)_(43076620_?)del	BRCA1	Pathogenic	17	41222939	41228637	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43074325)_(43094866_?)del	BRCA1	Pathogenic	17	41226342	41246883	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41267737)_(41267802_?)dup	BRCA1	Likely pathogenic	17	41267737	41267802	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063327)_(43063379_?)del	BRCA1	Pathogenic	17	41215344	41215396	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43090938)_(43106539_?)del	BRCA1	Pathogenic	17	41242955	41258556	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43115720)_(43124102_?)del	BRCA1	Pathogenic	17	41267737	41276119	na	na	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.4616dup (p.Glu1540fs)	BRCA1	Pathogenic	17	41226406	41226407	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656631
Duplication	NM_007294.4(BRCA1):c.3954dup (p.Gly1319fs)	BRCA1	Pathogenic	17	41243593	41243594	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656672