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.2068A>T (p.Lys690Ter)	BRCA1	Pathogenic	17	41245480	41245480	T	A	reviewed by expert panel	ClinGen:CA10589900
Duplication	NM_007294.4(BRCA1):c.2012dup (p.Gly671_Lys672insTer)	BRCA1	Pathogenic	17	41245535	41245536	A	AC	reviewed by expert panel	ClinGen:CA10589901
Deletion	NM_007294.4(BRCA1):c.1978del (p.Val660fs)	BRCA1	Pathogenic	17	41245570	41245570	AC	A	reviewed by expert panel	ClinGen:CA10589902
single nucleotide variant	NM_007294.4(BRCA1):c.1965C>A (p.Tyr655Ter)	BRCA1	Pathogenic	17	41245583	41245583	G	T	reviewed by expert panel	ClinGen:CA10589903
Deletion	NM_007294.4(BRCA1):c.1953del (p.Lys654fs)	BRCA1	Pathogenic	17	41245595	41245595	TC	T	reviewed by expert panel	ClinGen:CA10589904
Deletion	NM_007294.4(BRCA1):c.1949_1952del (p.Ile650fs)	BRCA1	Pathogenic	17	41245596	41245599	CTTTA	C	reviewed by expert panel	ClinGen:CA10589905
Deletion	NM_007294.4(BRCA1):c.1938_1945del (p.Ser646fs)	BRCA1	Pathogenic	17	41245603	41245610	TCTTCACTG	T	reviewed by expert panel	ClinGen:CA10589906
single nucleotide variant	NM_007294.4(BRCA1):c.1942G>T (p.Glu648Ter)	BRCA1	Pathogenic	17	41245606	41245606	C	A	reviewed by expert panel	ClinGen:CA10589907
Deletion	NM_007294.4(BRCA1):c.1930del (p.Cys644fs)	BRCA1	Pathogenic	17	41245618	41245618	CA	C	reviewed by expert panel	ClinGen:CA10589908
single nucleotide variant	NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter)	BRCA1	Pathogenic	17	41245630	41245630	G	A	reviewed by expert panel	ClinGen:CA10589909