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	NM_024675.4(PALB2):c.2762del (p.Gln921fs)	PALB2	Pathogenic	16	23635402	23635402	CT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.274dup (p.Thr92fs)	PALB2	Pathogenic	16	23647592	23647593	G	GT	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045658)_(43045822_?)del	BRCA1	Pathogenic	17	41197675	41197839	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41209049)_(41215988_?)dup	BRCA1	Likely pathogenic	17	41209049	41215988	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43123997)_(43125483_?)del	BRCA1	Pathogenic	17	41276014	41277500	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43045658)_(43047723_?)del	BRCA1	Pathogenic	17	41197675	41199740	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063854)_(43125483_?)del	BRCA1	Pathogenic	17	41215871	41277500	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_41234401)_(41258570_?)dup	BRCA1	Likely pathogenic	17	41234401	41258570	na	na	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4195del (p.Thr1399fs)	BRCA1	Pathogenic	17	41234583	41234583	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3641del (p.Glu1214fs)	BRCA1	Pathogenic	17	41243907	41243907	CT	C	criteria provided, single submitter	-