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.1747A>T (p.Lys583Ter)	BRCA1	Pathogenic	17	41245801	41245801	T	A	reviewed by expert panel	ClinGen:CA001145
Deletion	NM_007294.4(BRCA1):c.1757del (p.Pro586fs)	BRCA1	Pathogenic	17	41245791	41245791	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1876&base_change=del C,ClinGen:CA001148
Deletion	NM_007294.4(BRCA1):c.1772del (p.Ile591fs)	BRCA1	Pathogenic	17	41245776	41245776	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1891&base_change=del T,ClinGen:CA001152
single nucleotide variant	NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)	BRCA1	Pathogenic	17	41245759	41245759	C	A	reviewed by expert panel	ClinGen:CA001161
single nucleotide variant	NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)	BRCA1	Pathogenic	17	41258507	41258507	G	A	reviewed by expert panel	ClinGen:CA001162
single nucleotide variant	NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)	BRCA1	Pathogenic	17	41245755	41245755	A	T	reviewed by expert panel	ClinGen:CA001163
single nucleotide variant	NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)	BRCA1	Pathogenic	17	41245755	41245755	A	C	reviewed by expert panel	ClinGen:CA001164
Deletion	NM_007294.4(BRCA1):c.179del (p.Gln60fs)	BRCA1	Pathogenic	17	41258506	41258506	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):298&base_change=del A,ClinGen:CA001169
Deletion	NM_007294.4(BRCA1):c.1805del (p.Asn602fs)	BRCA1	Pathogenic	17	41245743	41245743	AT	A	reviewed by expert panel	ClinGen:CA001173
single nucleotide variant	NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)	BRCA1	Pathogenic	17	41245740	41245740	G	C	reviewed by expert panel	ClinGen:CA001174