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_000077.5(CDKN2A):c.221del (p.Asp74fs)	CDKN2A	Pathogenic	9	21971137	21971137	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter)	CDKN2A	Pathogenic	9	21994234	21994234	C	A	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_21968219)_(21994341_?)del	CDKN2A	Pathogenic	9	21968218	21994340	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32398790_?)del	BRCA2	Pathogenic	13	32889617	32972927	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325056)_(32325204_?)del	BRCA2	Pathogenic	13	32899193	32899341	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32325056)_(32363553_?)del	BRCA2	Pathogenic	13	32899193	32937690	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32346807)_(32346916_?)del	BRCA2	Pathogenic	13	32920944	32921053	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32930559)_(32937676_?)dup	BRCA2	Likely pathogenic	13	32930559	32937676	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32370382)_(32371120_?)del	BRCA2	Pathogenic	13	32944519	32945257	na	na	criteria provided, single submitter	-
Duplication	NC_000013.10:g.(?_32944519)_(32945257_?)dup	BRCA2	Likely pathogenic	13	32944519	32945257	na	na	criteria provided, single submitter	-