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
Duplication	NM_007294.4(BRCA1):c.211dup (p.Arg71fs)	BRCA1	Pathogenic	17	41258473	41258474	C	CT	reviewed by expert panel	ClinGen:CA327801
single nucleotide variant	NM_007294.4(BRCA1):c.212+1G>C	BRCA1	Pathogenic	17	41258472	41258472	C	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):331+1&base_change=G to C,ClinGen:CA001406
single nucleotide variant	NM_007294.4(BRCA1):c.212+1G>T	BRCA1	Pathogenic	17	41258472	41258472	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):331+1&base_change=G to T,ClinGen:CA001407
single nucleotide variant	NM_007294.4(BRCA1):c.212+2T>C	BRCA1	Pathogenic/Likely pathogenic	17	41258471	41258471	A	G	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):331+2&base_change=T to C,ClinGen:CA001411
single nucleotide variant	NM_007294.4(BRCA1):c.212+3A>G	BRCA1	Pathogenic	17	41258470	41258470	T	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):331+3&base_change=A to G,BRCA1-HCI:BRCA1_00134,ClinGen:CA001412
Insertion	NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)	BRCA1	Pathogenic	17	41245422	41245423	A	AT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):2244&base_change=ins A,ClinGen:CA001418
Deletion	NM_007294.4(BRCA1):c.2126_2127del (p.Phe709fs)	BRCA1	Pathogenic	17	41245421	41245422	TAA	T	reviewed by expert panel	ClinGen:CA001419
single nucleotide variant	NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)	BRCA1	Pathogenic	17	41258473	41258473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001420,UniProtKB:P38398#VAR_020681
single nucleotide variant	NM_007294.4(BRCA1):c.213-1G>A	BRCA1	Pathogenic	17	41256974	41256974	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):332-1&base_change=G to A,ClinGen:CA001430
single nucleotide variant	NM_007294.4(BRCA1):c.213-2A>C	BRCA1	Pathogenic	17	41256975	41256975	T	G	criteria provided, single submitter	ClinGen:CA001431