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.5503_5506del (p.Arg1835fs)	BRCA1	Pathogenic	17	41197781	41197784	TCTCG	T	reviewed by expert panel	ClinGen:CA10589587
Duplication	NM_007294.4(BRCA1):c.5502_5503dup (p.Arg1835fs)	BRCA1	Pathogenic	17	41197783	41197784	C	CGG	reviewed by expert panel	ClinGen:CA10589588
Duplication	NM_007294.4(BRCA1):c.5503dup (p.Arg1835fs)	BRCA1	Pathogenic	17	41197783	41197784	C	CG	reviewed by expert panel	ClinGen:CA10589589
Insertion	NM_007294.4(BRCA1):c.5493_5494insTT (p.Val1832fs)	BRCA1	Pathogenic	17	41197793	41197794	C	CAA	reviewed by expert panel	ClinGen:CA10589590
Duplication	NM_007294.4(BRCA1):c.5419dup (p.Ile1807fs)	BRCA1	Pathogenic	17	41199707	41199708	A	AT	reviewed by expert panel	ClinGen:CA10589591
single nucleotide variant	NM_007294.4(BRCA1):c.5390C>G (p.Ser1797Ter)	BRCA1	Pathogenic	17	41201154	41201154	G	C	reviewed by expert panel	ClinGen:CA10589592
Duplication	NM_007294.4(BRCA1):c.5389dup (p.Ser1797fs)	BRCA1	Pathogenic	17	41201154	41201155	G	GA	reviewed by expert panel	ClinGen:CA10589593
Duplication	NM_007294.4(BRCA1):c.5353_5354dup (p.Gln1785fs)	BRCA1	Pathogenic	17	41201189	41201190	C	CTG	reviewed by expert panel	ClinGen:CA10589595
Deletion	NM_007294.4(BRCA1):c.5348del (p.Met1783fs)	BRCA1	Pathogenic	17	41201196	41201196	CA	C	reviewed by expert panel	ClinGen:CA10589596
Indel	NM_007294.4(BRCA1):c.5341_5343delinsTG (p.Glu1781fs)	BRCA1	Pathogenic	17	41201201	41201203	TTC	CA	reviewed by expert panel	ClinGen:CA10589597