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_000059.4(BRCA2):c.9117_9117+11del	BRCA2	Likely pathogenic	13	32954050	32954061	CGGTACAAACCTT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NC_000013.10:g.(?_32928978)_(32954302_?)dup	BRCA2	Likely pathogenic	13	32928978	32954302	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32370936)_(32398790_?)del	BRCA2	Pathogenic	13	32945073	32972927	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7007+2T>G	BRCA2	Pathogenic/Likely pathogenic	13	32921035	32921035	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000016.10:g.(?_23621352)_(23636344_?)del	PALB2	Pathogenic	16	23632673	23647665	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23634852)_(23638139_?)del	PALB2	Pathogenic	16	23646173	23649460	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23637840)_(23641167_?)del	PALB2	Pathogenic	16	23649161	23652488	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32326081)_(32326633_?)del	BRCA2	Pathogenic	13	32900218	32900770	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32354841)_(32357949_?)del	BRCA2	Likely pathogenic	13	32928978	32932086	na	na	criteria provided, single submitter	-
Deletion	NM_001407299.1(PALB2):c.3113+7271del	PALB2	Pathogenic	16	23625412	23625412	TC	T	criteria provided, single submitter	-