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.928C>T (p.Gln310Ter)	BRCA1	Pathogenic	17	41246620	41246620	G	A	reviewed by expert panel	ClinGen:CA003972
Deletion	NM_007294.4(BRCA1):c.930del (p.Gln310fs)	BRCA1	Pathogenic	17	41246618	41246618	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1049&base_change=del G,ClinGen:CA003974
single nucleotide variant	NM_007294.4(BRCA1):c.949C>T (p.Gln317Ter)	BRCA1	Pathogenic	17	41246599	41246599	G	A	reviewed by expert panel	ClinGen:CA003980
Deletion	NM_007294.4(BRCA1):c.949_953del (p.Ser316_Gln317insTer)	BRCA1	Pathogenic	17	41246595	41246599	ATGTTG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1068&base_change=del CAACA,ClinGen:CA003979
Deletion	NM_007294.4(BRCA1):c.959_960del (p.Arg320fs)	BRCA1	Pathogenic	17	41246588	41246589	ATC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1078&base_change=del GA,ClinGen:CA003984
Deletion	NM_007294.4(BRCA1):c.961del (p.Trp321fs)	BRCA1	Pathogenic	17	41246587	41246587	CA	C	reviewed by expert panel	ClinGen:CA003985
Deletion	NM_007294.4(BRCA1):c.964del (p.Ala322fs)	BRCA1	Pathogenic	17	41246584	41246584	GC	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1083&base_change=del G,ClinGen:CA003987
Deletion	NM_007294.4(BRCA1):c.980_981del (p.Thr327fs)	BRCA1	Pathogenic	17	41246567	41246568	ATG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1099&base_change=del CA,ClinGen:CA003994
Deletion	NM_007294.4(BRCA1):c.981_982del (p.Thr327_Cys328insTer)	BRCA1	Pathogenic	17	41246566	41246567	CAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1100&base_change=del AT,ClinGen:CA003995
Deletion	NM_007294.4(BRCA1):c.985_986del (p.Cys328_Asn329insTer)	BRCA1	Pathogenic	17	41246562	41246563	ATT	A	reviewed by expert panel	ClinGen:CA003999