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
single nucleotide variant	NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)	BRCA1	Pathogenic	17	41226411	41226411	G	A	reviewed by expert panel	ClinGen:CA002928
single nucleotide variant	NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter)	BRCA1	Pathogenic	17	41226405	41226405	C	A	reviewed by expert panel	ClinGen:CA002930
single nucleotide variant	NM_007294.4(BRCA1):c.4621G>T (p.Glu1541Ter)	BRCA1	Pathogenic	17	41226402	41226402	C	A	reviewed by expert panel	ClinGen:CA002931
Deletion	NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs)	BRCA1	Pathogenic	17	41226397	41226398	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4744&base_change=del CT,ClinGen:CA002932
single nucleotide variant	NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)	BRCA1	Pathogenic	17	41251876	41251876	G	A	reviewed by expert panel	ClinGen:CA002941
Deletion	NM_007294.4(BRCA1):c.4646_4665del (p.Glu1549fs)	BRCA1	Pathogenic	17	41226358	41226377	GCCTTGGCAAGTAAGATGTTT	G	reviewed by expert panel	-
Deletion	NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs)	BRCA1	Pathogenic	17	41226365	41226368	CAAGT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4774&base_change=del ACTT,ClinGen:CA002950
single nucleotide variant	NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)	BRCA1	Pathogenic	17	41226367	41226367	G	C	reviewed by expert panel	ClinGen:CA002951
single nucleotide variant	NM_007294.4(BRCA1):c.4675+1G>A	BRCA1	Pathogenic	17	41226347	41226347	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4794+1&base_change=G to A,BRCA1-HCI:BRCA1_00127,ClinGen:CA002957
single nucleotide variant	NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)	BRCA1	Pathogenic	17	41223253	41223253	C	A	reviewed by expert panel	ClinGen:CA002973