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.2679_2680del (p.Lys894fs)	BRCA1	Pathogenic	17	41244868	41244869	TTC	T	reviewed by expert panel	ClinGen:CA001755
Deletion	NM_007294.4(BRCA1):c.2682del (p.Lys894fs)	BRCA1	Pathogenic	17	41244866	41244866	GT	G	reviewed by expert panel	ClinGen:CA001762
single nucleotide variant	NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)	BRCA1	Pathogenic	17	41244865	41244865	G	A	reviewed by expert panel	ClinGen:CA001764
Deletion	NM_007294.4(BRCA1):c.2683_2686del (p.Gln895fs)	BRCA1	Pathogenic	17	41244862	41244865	CTTTG	C	reviewed by expert panel	ClinGen:CA001763
Deletion	NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)	BRCA1	Pathogenic	17	41244862	41244863	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2804&base_change=del AA,ClinGen:CA001766
Duplication	NM_007294.4(BRCA1):c.2694dup (p.Val899fs)	BRCA1	Pathogenic	17	41244853	41244854	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2809&base_change=ins A,ClinGen:CA267965
Deletion	NM_007294.4(BRCA1):c.269_281del (p.Ile90fs)	BRCA1	Pathogenic	17	41256905	41256917	CTGAAAAGCACAAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):388&base_change=del 13,ClinGen:CA001773
Deletion	NM_007294.4(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer)	BRCA1	Pathogenic	17	41244845	41244846	CAA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2819&base_change=del TT,ClinGen:CA001778
Deletion	NM_007294.4(BRCA1):c.2709del (p.Cys903fs)	BRCA1	Pathogenic	17	41244839	41244839	CA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2828&base_change=del T,ClinGen:CA001784
single nucleotide variant	NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter)	BRCA1	Pathogenic	17	41244835	41244835	G	A	reviewed by expert panel	ClinGen:CA001787