遺伝性乳がん・卵巣がん症候群

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
Indel	NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA	BRCA1	Pathogenic	17	41267797	41267801	CTAGC	TCAAGGT	criteria provided, single submitter	ClinGen:CA658684101
single nucleotide variant	NM_007294.4(BRCA1):c.5152+2T>C	BRCA1	Pathogenic/Likely pathogenic	17	41215889	41215889	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591239
Indel	NM_007294.4(BRCA1):c.4688_4694delinsG (p.Tyr1563_Glu1565delinsTer)	BRCA1	Pathogenic	17	41223237	41223243	TCCAGGT	C	criteria provided, single submitter	ClinGen:CA658684117
Duplication	NM_007294.4(BRCA1):c.2156_2163dup (p.Val722fs)	BRCA1	Pathogenic	17	41245384	41245385	C	CAAATTCTT	criteria provided, single submitter	ClinGen:CA658684098
single nucleotide variant	NM_007294.4(BRCA1):c.688G>T (p.Glu230Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41246860	41246860	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10600711
single nucleotide variant	NM_007294.4(BRCA1):c.3253A>T (p.Arg1085Ter)	BRCA1	Pathogenic	17	41244295	41244295	T	A	criteria provided, single submitter	ClinGen:CA10595478
Deletion	NM_007294.4(BRCA1):c.2416_2417del (p.Ala806fs)	BRCA1	Pathogenic	17	41245131	41245132	TGC	T	criteria provided, single submitter	ClinGen:CA658684089
Deletion	NM_002878.4(RAD51D):c.664del (p.Glu222fs)	RAD51D	Pathogenic	17	33430476	33430476	TC	T	criteria provided, single submitter	ClinGen:CA658684029
Deletion	NM_058216.3(RAD51C):c.964del (p.Arg322fs)	RAD51C	Likely pathogenic	17	56801458	56801458	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684139
Duplication	NM_007294.4(BRCA1):c.4986dup (p.Met1663fs)	BRCA1	Pathogenic	17	41222944	41222945	C	CA	criteria provided, single submitter	ClinGen:CA658684112