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
Deletion	NM_007294.4(BRCA1):c.5243del (p.Gly1748fs)	BRCA1	Pathogenic	17	41209103	41209103	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5362&base_change=del G,ClinGen:CA003384
single nucleotide variant	NM_007294.4(BRCA1):c.5246C>G (p.Pro1749Arg)	BRCA1	Pathogenic	17	41209100	41209100	G	C	criteria provided, single submitter	UniProtKB:P38398#VAR_007798,ClinGen:CA003387
single nucleotide variant	NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1	Pathogenic	17	41209095	41209095	G	A	reviewed by expert panel	ClinGen:CA003389
single nucleotide variant	NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)	BRCA1	Pathogenic/Likely pathogenic	17	41209092	41209092	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003394
Duplication	NM_007294.4(BRCA1):c.5257dup (p.Arg1753fs)	BRCA1	Pathogenic	17	41209088	41209089	C	CT	reviewed by expert panel	ClinGen:CA327987
single nucleotide variant	NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)	BRCA1	Pathogenic	17	41209086	41209086	C	A	reviewed by expert panel	ClinGen:CA003403
single nucleotide variant	NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)	BRCA1	Pathogenic	17	41209080	41209080	G	A	reviewed by expert panel	ClinGen:CA003410
Deletion	NM_007294.4(BRCA1):c.5270_5276del (p.Asp1757fs)	BRCA1	Pathogenic	17	41209070	41209076	CTTTCTGT	C	reviewed by expert panel	ClinGen:CA003413
single nucleotide variant	NM_007294.4(BRCA1):c.5278-1G>A	BRCA1	Pathogenic	17	41203135	41203135	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5397-1&base_change=G to A,ClinGen:CA003432
single nucleotide variant	NM_007294.4(BRCA1):c.5278-1G>C	BRCA1	Pathogenic	17	41203135	41203135	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003434