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
Duplication	NM_007294.4(BRCA1):c.513dup (p.Gln172fs)	BRCA1	Pathogenic	17	41251825	41251826	G	GT	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.500_503del (p.Thr167fs)	BRCA1	Pathogenic	17	41251836	41251839	CTTTG	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41258546	41258546	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)	BRCA1	Likely pathogenic	17	41267745	41267745	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)	BRCA1	Pathogenic	17	41276042	41276042	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000009.12:g.(?_21994129)_(21994341_?)del	CDKN2A	Pathogenic	9	21994128	21994340	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32315480)_(32371120_?)del	BRCA2	Pathogenic	13	32889617	32945257	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_32330899)_(32380165_?)del	BRCA2	Pathogenic	13	32905036	32954302	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.7976+1G>T	BRCA2	Pathogenic/Likely pathogenic	13	32936831	32936831	G	T	criteria provided, multiple submitters, no conflicts	-