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.1327A>T (p.Lys443Ter)	BRCA1	Pathogenic	17	41246221	41246221	T	A	reviewed by expert panel	ClinGen:CA000866
Duplication	NM_007294.4(BRCA1):c.1336dup (p.Arg446fs)	BRCA1	Pathogenic	17	41246211	41246212	C	CT	reviewed by expert panel	ClinGen:CA000872
single nucleotide variant	NM_007294.4(BRCA1):c.134+2T>C	BRCA1	Pathogenic/Likely pathogenic	17	41267741	41267741	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+2&base_change=T to C,Breast Cancer Information Core (BIC) (BRCA1):253+3&base_change=T to C,ClinGen:CA000882
single nucleotide variant	NM_007294.4(BRCA1):c.134+5G>A	BRCA1	Pathogenic/Likely pathogenic	17	41267738	41267738	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):253+5&base_change=G to A,ClinGen:CA000886
Deletion	NM_007294.4(BRCA1):c.1361del (p.Ser454fs)	BRCA1	Pathogenic	17	41246187	41246187	AC	A	reviewed by expert panel	ClinGen:CA000908
Deletion	NM_007294.4(BRCA1):c.1377_1378del (p.Lys459fs)	BRCA1	Pathogenic	17	41246170	41246171	ATT	A	reviewed by expert panel	ClinGen:CA000914
single nucleotide variant	NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter)	BRCA1	Pathogenic	17	41258544	41258544	G	T	reviewed by expert panel	ClinGen:CA000957
Duplication	NM_007294.4(BRCA1):c.1512dup (p.Lys505Ter)	BRCA1	Pathogenic	17	41246035	41246036	T	TA	reviewed by expert panel	ClinGen:CA001020
Deletion	NM_007294.4(BRCA1):c.1628del (p.Gly543fs)	BRCA1	Pathogenic	17	41245920	41245920	AC	A	reviewed by expert panel	ClinGen:CA001080
Deletion	NM_007294.4(BRCA1):c.1744del (p.Thr582fs)	BRCA1	Pathogenic	17	41245804	41245804	GT	G	reviewed by expert panel	ClinGen:CA001142