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.70T>C (p.Cys24Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41276044	41276044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003829
Duplication	NM_007294.4(BRCA1):c.70_73dup (p.Pro25fs)	BRCA1	Pathogenic	17	41276040	41276041	G	GGACA	reviewed by expert panel	ClinGen:CA328042
Deletion	NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)	BRCA1	Pathogenic	17	41276034	41276044	CCAGATGGGACA	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):188&base_change=del GTGTCCCATCT,Breast Cancer Information Core (BIC) (BRCA1):189&base_change=del 11,ClinGen:CA003827
Deletion	NM_007294.4(BRCA1):c.72_73del (p.Pro25fs)	BRCA1	Pathogenic	17	41276041	41276042	GGA	G	reviewed by expert panel	ClinGen:CA003836
Deletion	NM_007294.4(BRCA1):c.731del (p.Asn244fs)	BRCA1	Pathogenic	17	41246817	41246817	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):850&base_change=del A,ClinGen:CA003839
Deletion	NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)	BRCA1	Pathogenic	17	41246811	41246811	CA	C	reviewed by expert panel	ClinGen:CA003844
Duplication	NM_007294.4(BRCA1):c.742dup (p.Thr248fs)	BRCA1	Pathogenic	17	41246805	41246806	G	GT	reviewed by expert panel	ClinGen:CA328045
single nucleotide variant	NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)	BRCA1	Pathogenic	17	41246785	41246785	C	A	reviewed by expert panel	ClinGen:CA003854
Deletion	NM_007294.4(BRCA1):c.775del (p.Glu259fs)	BRCA1	Pathogenic	17	41246773	41246773	TC	T	reviewed by expert panel	ClinGen:CA003862,Breast Cancer Information Core (BIC) (BRCA1):894&base_change=del G
Deletion	NM_007294.4(BRCA1):c.791_794del (p.Ser264fs)	BRCA1	Pathogenic	17	41246754	41246757	AGAAC	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):910&base_change=del GTTC,ClinGen:CA354128