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.2719_2722del (p.Glu907fs)	BRCA1	Pathogenic	17	41244826	41244829	TCTTC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2838&base_change=del GAAG,ClinGen:CA001789
single nucleotide variant	NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)	BRCA1	Pathogenic	17	41244826	41244826	C	A	reviewed by expert panel	ClinGen:CA001792
Deletion	NM_007294.4(BRCA1):c.2726_2730del (p.Asn909fs)	BRCA1	Pathogenic	17	41244818	41244822	CTTGAT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2843&base_change=del AAATC,ClinGen:CA001794
Deletion	NM_007294.4(BRCA1):c.2726del (p.Asn909fs)	BRCA1	Pathogenic	17	41244822	41244822	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2845&base_change=del A,ClinGen:CA001796
Duplication	NM_007294.4(BRCA1):c.2726dup (p.Asn909fs)	BRCA1	Pathogenic	17	41244821	41244822	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2845&base_change=ins A,ClinGen:CA001793
Deletion	NM_007294.4(BRCA1):c.2727_2730del (p.Asn909fs)	BRCA1	Pathogenic	17	41244818	41244821	CTTGA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2844&base_change=del AATC,Breast Cancer Information Core (BIC) (BRCA1):2846&base_change=del TCAA,ClinGen:CA001797
single nucleotide variant	NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)	BRCA1	Pathogenic	17	41244820	41244820	G	A	reviewed by expert panel	ClinGen:CA001798
Deletion	NM_007294.4(BRCA1):c.2728del (p.Gln910fs)	BRCA1	Pathogenic	17	41244820	41244820	TG	T	reviewed by expert panel	ClinGen:CA001799
single nucleotide variant	NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)	BRCA1	Pathogenic	17	41244808	41244808	C	A	reviewed by expert panel	ClinGen:CA001806
Deletion	NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)	BRCA1	Pathogenic	17	41244803	41244804	TAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2862&base_change=del TC,ClinGen:CA001807,OMIM:113705.0009