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.1102G>T (p.Glu368Ter)	BRCA1	Pathogenic	17	41246446	41246446	C	A	reviewed by expert panel	ClinGen:CA000736
single nucleotide variant	NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)	BRCA1	Pathogenic	17	41267767	41267767	G	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00112,ClinGen:CA000742
single nucleotide variant	NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41267767	41267767	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000743
Deletion	NM_007294.4(BRCA1):c.1112del (p.Pro371fs)	BRCA1	Pathogenic	17	41246436	41246436	AG	A	reviewed by expert panel	ClinGen:CA000744
single nucleotide variant	NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)	BRCA1	Pathogenic	17	41246433	41246433	C	T	reviewed by expert panel	ClinGen:CA000745,OMIM:113705.0043
single nucleotide variant	NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)	BRCA1	Pathogenic	17	41246432	41246432	C	T	reviewed by expert panel	ClinGen:CA000746
Indel	NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs)	BRCA1	Pathogenic	17	41246425	41246427	GTG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1240&base_change=del CAC ins T,ClinGen:CA000748
Deletion	NM_007294.4(BRCA1):c.1127del (p.Asn376fs)	BRCA1	Pathogenic	17	41246421	41246421	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1246&base_change=del A,ClinGen:CA000754
Deletion	NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)	BRCA1	Pathogenic	17	41267764	41267765	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):231&base_change=del AA,ClinGen:CA000749
single nucleotide variant	NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter)	BRCA1	Pathogenic	17	41246410	41246410	G	A	reviewed by expert panel	ClinGen:CA000759