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.5066T>G (p.Met1689Arg)	BRCA1	Pathogenic/Likely pathogenic	17	41219633	41219633	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003182,UniProtKB:P38398#VAR_063904
single nucleotide variant	NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)	BRCA1	Pathogenic	17	41219631	41219631	T	A	reviewed by expert panel	ClinGen:CA003184
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)	BRCA1	Pathogenic/Likely pathogenic	17	41219627	41219627	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA003188
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)	BRCA1	Pathogenic/Likely pathogenic	17	41219627	41219627	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003190,UniProtKB:P38398#VAR_070500
single nucleotide variant	NM_007294.4(BRCA1):c.5074+1G>A	BRCA1	Pathogenic	17	41219624	41219624	C	T	reviewed by expert panel	ClinGen:CA003193,Breast Cancer Information Core (BIC) (BRCA1):5193+1&base_change=G to A,BRCA1-HCI:BRCA1_00122
single nucleotide variant	NM_007294.4(BRCA1):c.5074+1G>T	BRCA1	Pathogenic	17	41219624	41219624	C	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5193+1&base_change=G to T,ClinGen:CA003194
single nucleotide variant	NM_007294.4(BRCA1):c.5074+2T>C	BRCA1	Pathogenic	17	41219623	41219623	A	G	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5193+2&base_change=T to C,ClinGen:CA003196
single nucleotide variant	NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)	BRCA1	Pathogenic	17	41219625	41219625	C	G	reviewed by expert panel	ClinGen:CA003202
single nucleotide variant	NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)	BRCA1	Likely pathogenic	17	41215953	41215953	C	T	reviewed by expert panel	ClinGen:CA003230
single nucleotide variant	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1	Pathogenic	17	41215947	41215947	C	T	reviewed by expert panel	ClinGen:CA003235,UniProtKB:P38398#VAR_070501,OMIM:113705.0037