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.2983A>T (p.Lys995Ter)	BRCA1	Pathogenic	17	41244565	41244565	T	A	reviewed by expert panel	ClinGen:CA10585940
Deletion	NM_007294.4(BRCA1):c.1622_1626del (p.Gln541fs)	BRCA1	Pathogenic	17	41245922	41245926	CATTCT	C	reviewed by expert panel	ClinGen:CA10585941
Deletion	NM_007294.4(BRCA1):c.1224del (p.Lys408_Val409insTer)	BRCA1	Pathogenic	17	41246324	41246324	CT	C	reviewed by expert panel	ClinGen:CA10585942
Deletion	NM_007294.4(BRCA1):c.1142_1143del (p.Lys381fs)	BRCA1	Pathogenic	17	41246405	41246406	CTT	C	reviewed by expert panel	ClinGen:CA10585943
single nucleotide variant	NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)	BRCA1	Pathogenic	17	41246869	41246869	C	A	reviewed by expert panel	ClinGen:CA10585944
single nucleotide variant	NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter)	BRCA1	Pathogenic	17	41276049	41276049	A	T	reviewed by expert panel	ClinGen:CA10585945
Deletion	NM_000059.4(BRCA2):c.1667del (p.Asn556fs)	BRCA2	Pathogenic	13	32907280	32907280	CA	C	reviewed by expert panel	ClinGen:CA10586051
Deletion	NM_000059.4(BRCA2):c.2034_2038del (p.Asn679fs)	BRCA2	Pathogenic	13	32910525	32910529	AATAAT	A	reviewed by expert panel	ClinGen:CA10586054
Deletion	NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer)	BRCA2	Pathogenic	13	32910735	32910736	TAC	T	reviewed by expert panel	ClinGen:CA10586056
single nucleotide variant	NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)	BRCA2	Pathogenic	13	32911098	32911098	C	G	reviewed by expert panel	ClinGen:CA10586061