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.396_397del (p.Val132_Ser133insTer)	PALB2	Pathogenic	16	23647470	23647471	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_43057032)_(43057155_?)del	BRCA1	Pathogenic	17	41209049	41209172	na	na	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3726dup (p.Arg1243Ter)	BRCA1	Pathogenic	17	41243821	41243822	T	TA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.3161_3164dup (p.Ser1056fs)	BRCA1	Pathogenic	17	41244383	41244384	G	GCCCA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.3135_3138del (p.Asn1045fs)	BRCA1	Pathogenic	17	41244410	41244413	CTTCA	C	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.2643dup (p.Cys882fs)	BRCA1	Pathogenic	17	41244904	41244905	A	AT	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.283_286del (p.Leu95fs)	BRCA1	Pathogenic	17	41256900	41256903	TCAAG	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_007294.4(BRCA1):c.65_66insTA (p.Leu22fs)	BRCA1	Pathogenic	17	41276048	41276049	T	TTA	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.45dup (p.Asn16Ter)	BRCA1	Pathogenic	17	41276068	41276069	T	TA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.537dup (p.Ile180fs)	BRCA2	Pathogenic	13	32900655	32900656	A	AT	criteria provided, multiple submitters, no conflicts	-