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.794_795del (p.Ser265fs)	BRCA1	Pathogenic	17	41246753	41246754	CAG	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):913&base_change=del CT,ClinGen:CA003879
Duplication	NM_007294.4(BRCA1):c.799dup (p.Ser267fs)	BRCA1	Pathogenic	17	41246748	41246749	G	GA	reviewed by expert panel	ClinGen:CA328063
single nucleotide variant	NM_007294.4(BRCA1):c.80+1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41276033	41276033	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):199+1&base_change=G to A,ClinGen:CA003884
single nucleotide variant	NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)	BRCA1	Pathogenic	17	41246748	41246748	G	C	reviewed by expert panel	ClinGen:CA003883
Deletion	NM_007294.4(BRCA1):c.809del (p.His270fs)	BRCA1	Pathogenic	17	41246739	41246739	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):928&base_change=del A,ClinGen:CA003894
single nucleotide variant	NM_007294.4(BRCA1):c.81-1G>C	BRCA1	Pathogenic	17	41267797	41267797	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003906
single nucleotide variant	NM_007294.4(BRCA1):c.81-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41267798	41267798	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003912
Deletion	NM_007294.4(BRCA1):c.81-2del	BRCA1	Pathogenic	17	41267798	41267798	CT	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):200-2&base_change=del A,ClinGen:CA003913
single nucleotide variant	NM_007294.4(BRCA1):c.81-9C>G	BRCA1	Pathogenic	17	41267805	41267805	G	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):200-9&base_change=C to G,ClinGen:CA003917
Duplication	NM_007294.4(BRCA1):c.814_824dup (p.Thr276fs)	BRCA1	Pathogenic	17	41246723	41246724	G	GCCACATGGCTC	reviewed by expert panel	ClinGen:CA026483