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.5506G>T (p.Glu1836Ter)	BRCA1	Pathogenic	17	41197781	41197781	C	A	reviewed by expert panel	ClinGen:CA003679
single nucleotide variant	NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	BRCA1	Pathogenic	17	41197778	41197778	A	C	reviewed by expert panel	ClinGen:CA003681
single nucleotide variant	NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)	BRCA1	Pathogenic	17	41197777	41197777	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5629&base_change=G to A,ClinGen:CA003684
single nucleotide variant	NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)	BRCA1	Pathogenic	17	41197776	41197776	C	T	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5630&base_change=G to A,ClinGen:CA003685
Deletion	NM_007294.4(BRCA1):c.5512del (p.Val1838fs)	BRCA1	Pathogenic	17	41197775	41197775	AC	A	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5629&base_change=del G,ClinGen:CA003683
single nucleotide variant	NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)	BRCA1	Pathogenic	17	41197774	41197774	A	T	reviewed by expert panel	BRCA1-HCI:BRCA1_00039,ClinGen:CA003690
Deletion	NM_007294.4(BRCA1):c.5521del (p.Ser1841fs)	BRCA1	Pathogenic	17	41197766	41197766	CT	C	reviewed by expert panel	Breast Cancer Information Core (BIC) (BRCA1):5640&base_change=del A,ClinGen:CA003695
single nucleotide variant	NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)	BRCA1	Likely pathogenic	17	41197760	41197760	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003697
Duplication	NM_007294.4(BRCA1):c.5533dup (p.Tyr1845fs)	BRCA1	Pathogenic	17	41197753	41197754	T	TA	reviewed by expert panel	ClinGen:CA328026
single nucleotide variant	NM_007294.4(BRCA1):c.5535C>A (p.Tyr1845Ter)	BRCA1	Pathogenic	17	41197752	41197752	G	T	reviewed by expert panel	ClinGen:CA003703