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.61del (p.Ile21fs)	BRCA1	Pathogenic	17	41276053	41276053	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):180&base_change=del A,ClinGen:CA003765
Duplication	NM_007294.4(BRCA1):c.62dup (p.Glu23fs)	BRCA1	Pathogenic	17	41276051	41276052	G	GA	reviewed by expert panel	ClinGen:CA328036
Deletion	NM_007294.4(BRCA1):c.64_65del (p.Leu22fs)	BRCA1	Pathogenic	17	41276049	41276050	TAA	T	reviewed by expert panel	ClinGen:CA003771
single nucleotide variant	NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)	BRCA1	Pathogenic	17	41276049	41276049	A	G	reviewed by expert panel	BRCA1-HCI:BRCA1_00111,ClinGen:CA003779,UniProtKB:P38398#VAR_007756
Deletion	NM_007294.4(BRCA1):c.667_668del (p.Lys223fs)	BRCA1	Pathogenic	17	41247865	41247866	CTT	C	criteria provided, single submitter	ClinGen:CA003786
single nucleotide variant	NM_007294.4(BRCA1):c.671-1G>A	BRCA1	Pathogenic	17	41246878	41246878	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003803
single nucleotide variant	NM_007294.4(BRCA1):c.671-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41246879	41246879	T	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):790-2&base_change=A to C,ClinGen:CA003806
single nucleotide variant	NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter)	BRCA1	Pathogenic	17	41246870	41246870	A	T	reviewed by expert panel	ClinGen:CA003811
Deletion	NM_007294.4(BRCA1):c.685del (p.Ser229fs)	BRCA1	Pathogenic	17	41246863	41246863	GA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):804&base_change=del T,ClinGen:CA003813
Duplication	NM_007294.4(BRCA1):c.68dup (p.Cys24fs)	BRCA1	Pathogenic	17	41276045	41276046	C	CT	reviewed by expert panel	ClinGen:CA328041