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.131G>T (p.Cys44Phe)	BRCA1	Pathogenic	17	41267746	41267746	C	A	reviewed by expert panel	ClinGen:CA000862
single nucleotide variant	NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)	BRCA1	Pathogenic	17	41246222	41246222	A	T	reviewed by expert panel	ClinGen:CA000865
single nucleotide variant	NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter)	BRCA1	Pathogenic	17	41246215	41246215	C	A	reviewed by expert panel	ClinGen:CA000870
Deletion	NM_007294.4(BRCA1):c.1335_1336del (p.Arg446fs)	BRCA1	Pathogenic	17	41246212	41246213	CTT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):1454&base_change=del AA,ClinGen:CA000871
Duplication	NM_007294.4(BRCA1):c.1339dup (p.Val447fs)	BRCA1	Pathogenic	17	41246208	41246209	A	AC	reviewed by expert panel	ClinGen:CA327736
Indel	NM_007294.4(BRCA1):c.133_134+3delinsT	BRCA1	Pathogenic	17	41267740	41267744	TACTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA327737
Deletion	NM_007294.4(BRCA1):c.133_134delAA (p.Lys45fs)	BRCA1	Pathogenic	17	41267743	41267744	CTT	C	reviewed by expert panel	ClinGen:CA000867
single nucleotide variant	NM_007294.4(BRCA1):c.134+1G>T	BRCA1	Pathogenic/Likely pathogenic	17	41267742	41267742	C	A	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+1&base_change=G to T,ClinGen:CA000879
single nucleotide variant	NM_007294.4(BRCA1):c.134+2T>G	BRCA1	Pathogenic	17	41267741	41267741	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=T to G,ClinGen:CA000883
Deletion	NM_007294.4(BRCA1):c.134+2del	BRCA1	Pathogenic	17	41267741	41267741	TA	T	criteria provided, single submitter	Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=del T,ClinGen:CA000881