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
single nucleotide variant	NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)	BRCA1	Likely pathogenic	17	41209104	41209104	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583548
single nucleotide variant	NM_007294.4(BRCA1):c.4987-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41219714	41219714	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583555
single nucleotide variant	NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter)	BRCA1	Pathogenic	17	41228619	41228619	G	T	reviewed by expert panel	ClinGen:CA10583560
single nucleotide variant	NM_007294.4(BRCA1):c.3893C>G (p.Ser1298Ter)	BRCA1	Pathogenic	17	41243655	41243655	G	C	reviewed by expert panel	ClinGen:CA10583564
Deletion	NM_007294.4(BRCA1):c.2912_2913del (p.His971fs)	BRCA1	Pathogenic	17	41244635	41244636	CAT	C	reviewed by expert panel	ClinGen:CA10583571
Deletion	NM_007294.4(BRCA1):c.2226_2227del (p.Asn742fs)	BRCA1	Pathogenic	17	41245321	41245322	TTA	T	reviewed by expert panel	ClinGen:CA10583574
Duplication	NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)	BRCA1	Pathogenic	17	41245624	41245625	C	CA	reviewed by expert panel	ClinGen:CA10583576
Deletion	NM_007294.4(BRCA1):c.1799del (p.Ile600fs)	BRCA1	Pathogenic	17	41245749	41245749	GA	G	reviewed by expert panel	ClinGen:CA10583577
Deletion	NM_007294.4(BRCA1):c.1601_1602del (p.Gln534fs)	BRCA1	Pathogenic	17	41245946	41245947	CCT	C	reviewed by expert panel	ClinGen:CA10583579
Deletion	NM_007294.4(BRCA1):c.1148del (p.Asn383fs)	BRCA1	Pathogenic	17	41246400	41246400	AT	A	reviewed by expert panel	ClinGen:CA10583582