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.5027dup (p.Leu1676fs)	BRCA1	Pathogenic	17	41219671	41219672	T	TA	reviewed by expert panel	ClinGen:CA327956
Deletion	NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)	BRCA1	Pathogenic	17	41219664	41219664	AG	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5154&base_change=del C,ClinGen:CA003166
Deletion	NM_007294.4(BRCA1):c.5040del (p.Thr1681fs)	BRCA1	Pathogenic	17	41219659	41219659	TA	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5159&base_change=del T,ClinGen:CA003168
single nucleotide variant	NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)	BRCA1	Pathogenic	17	41219652	41219652	C	A	reviewed by expert panel	ClinGen:CA003173
single nucleotide variant	NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)	BRCA1	Pathogenic	17	41219646	41219646	T	C	reviewed by expert panel	BRCA1-HCI:BRCA1_00042,ClinGen:CA003174,UniProtKB:P38398#VAR_063902
single nucleotide variant	NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile)	BRCA1	Pathogenic	17	41219645	41219645	G	A	reviewed by expert panel	BRCA1-HCI:BRCA1_00050,ClinGen:CA003175,UniProtKB:P38398#VAR_063903
single nucleotide variant	NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)	BRCA1	Pathogenic	17	41219641	41219641	A	T	criteria provided, single submitter	ClinGen:CA003178,UniProtKB:P38398#VAR_070497
single nucleotide variant	NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)	BRCA1	Pathogenic	17	41251834	41251834	G	A	reviewed by expert panel	ClinGen:CA003179
Duplication	NM_007294.4(BRCA1):c.5071dup (p.Thr1691fs)	BRCA1	Pathogenic	17	41219627	41219628	G	GT	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5190&base_change=ins A,ClinGen:CA003186
single nucleotide variant	NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)	BRCA1	Likely pathogenic	17	41219627	41219627	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003189