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.5089T>C (p.Cys1697Arg)	BRCA1	Pathogenic	17	41215954	41215954	A	G	reviewed by expert panel	ClinGen:CA003228,UniProtKB:P38398#VAR_020702
single nucleotide variant	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1	Pathogenic	17	41215948	41215948	G	A	reviewed by expert panel	BRCA1-HCI:BRCA1_00046,ClinGen:CA003234,UniProtKB:P38398#VAR_075666,OMIM:113705.0040
single nucleotide variant	NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)	BRCA1	Likely pathogenic	17	41215947	41215947	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003237
Deletion	NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)	BRCA1	Pathogenic	17	41215940	41215941	TCA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5221&base_change=del TG,ClinGen:CA003242
Deletion	NM_007294.4(BRCA1):c.5106del (p.Lys1702fs)	BRCA1	Pathogenic	17	41215937	41215937	AT	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5225&base_change=del A,ClinGen:CA003243
single nucleotide variant	NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)	BRCA1	Pathogenic	17	41215934	41215934	A	C	reviewed by expert panel	ClinGen:CA003244
Deletion	NM_007294.4(BRCA1):c.5112del (p.Phe1704_Leu1705insTer)	BRCA1	Pathogenic	17	41215931	41215931	GA	G	reviewed by expert panel	ClinGen:CA003245
single nucleotide variant	NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)	BRCA1	Pathogenic	17	41215920	41215920	G	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00045,ClinGen:CA003252,UniProtKB:P38398#VAR_007796
Deletion	NM_007294.4(BRCA1):c.5126del (p.Gly1709fs)	BRCA1	Pathogenic	17	41215917	41215917	TC	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5245&base_change=del G,ClinGen:CA003254
single nucleotide variant	NM_007294.4(BRCA1):c.5128G>T (p.Gly1710Ter)	BRCA1	Pathogenic	17	41215915	41215915	C	A	reviewed by expert panel	ClinGen:CA003256