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
Insertion	NM_007294.4(BRCA1):c.2648_2649insGGCA (p.Thr884fs)	BRCA1	Pathogenic	17	41244899	41244900	T	TTGCC	reviewed by expert panel	ClinGen:CA10589829
Deletion	NM_007294.4(BRCA1):c.2637del (p.Glu880fs)	BRCA1	Pathogenic	17	41244911	41244911	CT	C	reviewed by expert panel	ClinGen:CA10589830
Deletion	NM_007294.4(BRCA1):c.2617del (p.Ser873fs)	BRCA1	Pathogenic	17	41244931	41244931	GA	G	reviewed by expert panel	ClinGen:CA10589831
Deletion	NM_007294.4(BRCA1):c.2587del (p.Val863fs)	BRCA1	Pathogenic	17	41244961	41244961	AC	A	reviewed by expert panel	ClinGen:CA10589832
Insertion	NM_007294.4(BRCA1):c.2577_2578insTT (p.Thr860fs)	BRCA1	Pathogenic	17	41244970	41244971	T	TAA	reviewed by expert panel	ClinGen:CA10589833
Deletion	NM_007294.4(BRCA1):c.2552_2553del (p.Glu851fs)	BRCA1	Pathogenic	17	41244995	41244996	GTT	G	reviewed by expert panel	ClinGen:CA10589834
Duplication	NM_007294.4(BRCA1):c.2552_2553dup (p.Leu852fs)	BRCA1	Pathogenic	17	41244994	41244995	G	GTT	reviewed by expert panel	ClinGen:CA10589835
single nucleotide variant	NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)	BRCA1	Pathogenic	17	41244997	41244997	C	A	reviewed by expert panel	ClinGen:CA10589836
Deletion	NM_007294.4(BRCA1):c.2542_2545del (p.Glu848fs)	BRCA1	Pathogenic	17	41245003	41245006	TCTTC	T	reviewed by expert panel	ClinGen:CA10589837
Indel	NM_007294.4(BRCA1):c.2538_2540delinsG (p.Met847fs)	BRCA1	Pathogenic	17	41245008	41245010	ATT	C	reviewed by expert panel	ClinGen:CA10589838