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.3331_3334del (p.Gln1111fs)	BRCA1	Pathogenic	17	41244214	41244217	TCTTG	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3447&base_change=del AAGC,Breast Cancer Information Core (BIC) (BRCA1):3448&base_change=del AGCA,Breast Cancer Information Core (BIC) (BRCA1):3450&base_change=del CAAG,ClinGen:CA002149
single nucleotide variant	NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)	BRCA1	Pathogenic	17	41244196	41244196	G	A	reviewed by expert panel	ClinGen:CA002172
Deletion	NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer)	BRCA1	Pathogenic	17	41244189	41244190	AAC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3477&base_change=del GT,ClinGen:CA002178
single nucleotide variant	NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)	BRCA1	Pathogenic	17	41244159	41244159	G	C	reviewed by expert panel	ClinGen:CA002190
single nucleotide variant	NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)	BRCA1	Pathogenic	17	41244148	41244148	C	A	reviewed by expert panel	ClinGen:CA002199
Deletion	NM_007294.4(BRCA1):c.3442del (p.Glu1148fs)	BRCA1	Pathogenic	17	41244106	41244106	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3561&base_change=del G,ClinGen:CA002227
Deletion	NM_007294.4(BRCA1):c.3485del (p.Asp1162fs)	BRCA1	Pathogenic	17	41244063	41244063	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3604&base_change=del A,ClinGen:CA002247
Deletion	NM_007294.4(BRCA1):c.3503del (p.Asn1168fs)	BRCA1	Pathogenic	17	41244045	41244045	AT	A	reviewed by expert panel	ClinGen:CA002252
Deletion	NM_007294.4(BRCA1):c.3612del (p.Ala1206fs)	BRCA1	Pathogenic	17	41243936	41243936	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3731&base_change=del A,ClinGen:CA002307
Duplication	NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)	BRCA1	Pathogenic	17	41243920	41243921	C	CT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):3746&base_change=ins A,ClinGen:CA002323