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.4457del (p.Ser1486fs)	BRCA1	Pathogenic	17	41228532	41228532	AC	A	reviewed by expert panel	ClinGen:CA002860
single nucleotide variant	NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)	BRCA1	Pathogenic	17	41228509	41228509	C	A	reviewed by expert panel	ClinGen:CA002868
Deletion	NM_007294.4(BRCA1):c.4484+1del	BRCA1	Pathogenic	17	41228504	41228504	AC	A	reviewed by expert panel	ClinGen:CA002872
single nucleotide variant	NM_007294.4(BRCA1):c.4485-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41226539	41226539	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4604-1&base_change=G to A,ClinGen:CA002878
single nucleotide variant	NM_007294.4(BRCA1):c.4485-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41226540	41226540	T	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):4604-2&base_change=A to G,ClinGen:CA002879
single nucleotide variant	NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)	BRCA1	Pathogenic	17	41226536	41226536	G	T	reviewed by expert panel	ClinGen:CA002883
single nucleotide variant	NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter)	BRCA1	Pathogenic	17	41226536	41226536	G	C	reviewed by expert panel	ClinGen:CA002884
single nucleotide variant	NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)	BRCA1	Pathogenic	17	41226515	41226515	G	T	reviewed by expert panel	ClinGen:CA002889
Deletion	NM_007294.4(BRCA1):c.4516del (p.Asp1506fs)	BRCA1	Pathogenic	17	41226507	41226507	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4635&base_change=del G,ClinGen:CA002890
single nucleotide variant	NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1	Pathogenic	17	41226499	41226499	C	T	reviewed by expert panel	ClinGen:CA002893