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.2750del (p.Ile917fs)	BRCA1	Pathogenic	17	41244798	41244798	GA	G	reviewed by expert panel	ClinGen:CA10589818
Deletion	NM_007294.4(BRCA1):c.2710del (p.Glu904fs)	BRCA1	Pathogenic	17	41244838	41244838	TC	T	reviewed by expert panel	ClinGen:CA10589820
Deletion	NM_007294.4(BRCA1):c.2704del (p.Glu902fs)	BRCA1	Pathogenic	17	41244844	41244844	TC	T	reviewed by expert panel	ClinGen:CA10589821
Deletion	NM_007294.4(BRCA1):c.2694del (p.Val899fs)	BRCA1	Pathogenic	17	41244854	41244854	CT	C	reviewed by expert panel	ClinGen:CA10589822
Deletion	NM_007294.4(BRCA1):c.2687_2693del (p.Ser896fs)	BRCA1	Pathogenic	17	41244855	41244861	TTTTGGAC	T	reviewed by expert panel	ClinGen:CA10589823
Deletion	NM_007294.4(BRCA1):c.2683_2693del (p.Gln895fs)	BRCA1	Pathogenic	17	41244855	41244865	TTTTGGACTTTG	T	reviewed by expert panel	ClinGen:CA10589824
Duplication	NM_007294.4(BRCA1):c.2678dup (p.Lys894fs)	BRCA1	Pathogenic	17	41244869	41244870	C	CT	reviewed by expert panel	ClinGen:CA10589825
single nucleotide variant	NM_007294.4(BRCA1):c.2675T>G (p.Leu892Ter)	BRCA1	Pathogenic	17	41244873	41244873	A	C	reviewed by expert panel	ClinGen:CA10589826
Duplication	NM_007294.4(BRCA1):c.2652dup (p.Phe885fs)	BRCA1	Pathogenic	17	41244895	41244896	A	AT	reviewed by expert panel	ClinGen:CA10589827
Deletion	NM_007294.4(BRCA1):c.2649_2650del (p.Thr884fs)	BRCA1	Pathogenic	17	41244898	41244899	GTT	G	reviewed by expert panel	ClinGen:CA10589828