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.1519A>T (p.Arg507Ter)	BRCA1	Pathogenic	17	41246029	41246029	T	A	reviewed by expert panel	ClinGen:CA001026
Deletion	NM_007294.4(BRCA1):c.1523del (p.Pro508fs)	BRCA1	Pathogenic	17	41246025	41246025	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1642&base_change=del C,ClinGen:CA001029
single nucleotide variant	NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)	BRCA1	Pathogenic	17	41246019	41246019	G	C	reviewed by expert panel	ClinGen:CA001030
Deletion	NM_007294.4(BRCA1):c.1530del (p.Gly511fs)	BRCA1	Pathogenic	17	41246018	41246018	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1649&base_change=del A,ClinGen:CA001031
Deletion	NM_007294.4(BRCA1):c.1551del (p.Phe517fs)	BRCA1	Pathogenic	17	41245997	41245997	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1670&base_change=del T,ClinGen:CA001040
Indel	NM_007294.4(BRCA1):c.1561_1564delinsTAAA (p.Ala521_Asp522delinsTer)	BRCA1	Pathogenic	17	41245984	41245987	CTGC	TTTA	reviewed by expert panel	ClinGen:CA001045
Deletion	NM_007294.4(BRCA1):c.1570del (p.Ala524fs)	BRCA1	Pathogenic	17	41245978	41245978	GC	G	reviewed by expert panel	ClinGen:CA001051
single nucleotide variant	NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)	BRCA1	Pathogenic	17	41245972	41245972	G	A	reviewed by expert panel	ClinGen:CA001054
Deletion	NM_007294.4(BRCA1):c.1583_1589del (p.Thr528fs)	BRCA1	Pathogenic	17	41245959	41245965	TTCAGGAG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1701&base_change=del ACTCCTG,ClinGen:CA001058
Deletion	NM_007294.4(BRCA1):c.1595_1601del (p.Ile532fs)	BRCA1	Pathogenic	17	41245947	41245953	CTGATTTA	C	reviewed by expert panel	ClinGen:CA001060