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.1999C>T (p.Gln667Ter)	BRCA1	Pathogenic	17	41245549	41245549	G	A	reviewed by expert panel	ClinGen:CA001326
single nucleotide variant	NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	BRCA1	Pathogenic	17	41276113	41276113	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA001332
Duplication	NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs)	BRCA1	Pathogenic	17	41245534	41245535	T	TAC	reviewed by expert panel	ClinGen:CA026479
single nucleotide variant	NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)	BRCA1	Pathogenic	17	41245534	41245534	T	A	reviewed by expert panel	ClinGen:CA001343
single nucleotide variant	NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)	BRCA1	Pathogenic	17	41245531	41245531	C	A	reviewed by expert panel	ClinGen:CA001345
Deletion	NM_007294.4(BRCA1):c.2017del (p.Glu673fs)	BRCA1	Pathogenic	17	41245531	41245531	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2136&base_change=del G,ClinGen:CA001344
Deletion	NM_007294.4(BRCA1):c.2019del (p.Glu673fs)	BRCA1	Pathogenic	17	41245529	41245529	GT	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2138&base_change=del A,ClinGen:CA001346
Deletion	NM_007294.4(BRCA1):c.2021del (p.Pro674fs)	BRCA1	Pathogenic	17	41245527	41245527	AG	A	reviewed by expert panel	ClinGen:CA001348
Deletion	NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)	BRCA1	Pathogenic	17	41245519	41245520	CCA	C	reviewed by expert panel	ClinGen:CA001349
single nucleotide variant	NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)	BRCA1	Pathogenic	17	41245513	41245513	T	A	reviewed by expert panel	ClinGen:CA001353