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.4075C>T (p.Gln1359Ter)	BRCA1	Pathogenic	17	41243473	41243473	G	A	reviewed by expert panel	ClinGen:CA002606
Deletion	NM_007294.4(BRCA1):c.4085del (p.Asp1362fs)	BRCA1	Pathogenic	17	41243463	41243463	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4204&base_change=del A,ClinGen:CA002611
Deletion	NM_007294.4(BRCA1):c.4092_4093del (p.Leu1365fs)	BRCA1	Pathogenic	17	41243455	41243456	AAG	A	reviewed by expert panel	ClinGen:CA002613
Deletion	NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer)	BRCA1	Pathogenic	17	41243454	41243454	TA	T	reviewed by expert panel	ClinGen:CA002615
single nucleotide variant	NM_007294.4(BRCA1):c.4097-2A>G	BRCA1	Pathogenic	17	41243051	41243051	T	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4216-2&base_change=A to G,ClinGen:CA002627
Duplication	NM_007294.4(BRCA1):c.4107_4110dup (p.Gly1371fs)	BRCA1	Pathogenic	17	41243035	41243036	C	CAGAT	reviewed by expert panel	ClinGen:CA327910
single nucleotide variant	NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)	BRCA1	Pathogenic	17	41243030	41243030	A	T	reviewed by expert panel	ClinGen:CA002640
Deletion	NM_007294.4(BRCA1):c.4122_4123del (p.Ser1374fs)	BRCA1	Pathogenic	17	41243023	41243024	TCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):4241&base_change=del TG,ClinGen:CA002643
single nucleotide variant	NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)	BRCA1	Pathogenic	17	41243023	41243023	C	A	reviewed by expert panel	ClinGen:CA002644
Deletion	NM_007294.4(BRCA1):c.412_418del (p.Leu138fs)	BRCA1	Pathogenic	17	41256162	41256168	CTCTGTAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):531&base_change=del CTACAGA,ClinGen:CA002645