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.1600C>T (p.Gln534Ter)	BRCA1	Pathogenic	17	41245948	41245948	G	A	reviewed by expert panel	ClinGen:CA001062
Duplication	NM_007294.4(BRCA1):c.1601dup (p.Thr536fs)	BRCA1	Pathogenic	17	41245946	41245947	C	CT	reviewed by expert panel	ClinGen:CA327756
Deletion	NM_007294.4(BRCA1):c.1608_1611del (p.Asn537fs)	BRCA1	Pathogenic	17	41245937	41245940	GGTTA	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1727&base_change=del TAAC,ClinGen:CA001066
single nucleotide variant	NM_007294.4(BRCA1):c.160C>T (p.Gln54Ter)	BRCA1	Pathogenic	17	41258525	41258525	G	A	reviewed by expert panel	ClinGen:CA001069
Deletion	NM_007294.4(BRCA1):c.160del (p.Gln54fs)	BRCA1	Pathogenic	17	41258525	41258525	TG	T	reviewed by expert panel	ClinGen:CA001071
single nucleotide variant	NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)	BRCA1	Pathogenic	17	41245936	41245936	G	A	reviewed by expert panel	ClinGen:CA001073
single nucleotide variant	NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)	BRCA1	Pathogenic	17	41245927	41245927	G	A	reviewed by expert panel	ClinGen:CA001079
Duplication	NM_007294.4(BRCA1):c.1623dup (p.Asn542fs)	BRCA1	Pathogenic	17	41245924	41245925	T	TC	reviewed by expert panel	ClinGen:CA327757
single nucleotide variant	NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)	BRCA1	Pathogenic	17	41245918	41245918	G	A	reviewed by expert panel	ClinGen:CA001081
Deletion	NM_007294.4(BRCA1):c.1636_1654del (p.Met546fs)	BRCA1	Pathogenic	17	41245894	41245912	CCACTATTAGTAATATTCAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1755&base_change=del 19,ClinGen:CA001085