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.5468-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41197821	41197821	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003625
single nucleotide variant	NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)	BRCA1	Pathogenic	17	41197771	41197771	A	G	reviewed by expert panel	ClinGen:CA003693
single nucleotide variant	NM_007294.4(BRCA1):c.81-1G>A	BRCA1	Pathogenic/Likely pathogenic	17	41267797	41267797	C	T	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):200-1&base_change=G to A,ClinGen:CA003904
Deletion	NM_007294.4(BRCA1):c.936del (p.Gly312_Leu313insTer)	BRCA1	Pathogenic	17	41246612	41246612	AG	A	reviewed by expert panel	ClinGen:CA003975
single nucleotide variant	NM_000059.4(BRCA2):c.8633-1G>A	BRCA2	Pathogenic/Likely pathogenic	13	32950806	32950806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA025747
single nucleotide variant	NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)	BRCA2	Pathogenic	13	32953538	32953538	G	T	reviewed by expert panel	ClinGen:CA025846
single nucleotide variant	NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)	BRCA2	Pathogenic	13	32953632	32953632	C	G	reviewed by expert panel	ClinGen:CA025878
Deletion	NM_000059.4(BRCA2):c.1399_1402del (p.Lys467fs)	BRCA2	Pathogenic	13	32907014	32907017	TAAGA	T	reviewed by expert panel	ClinGen:CA011902
single nucleotide variant	NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)	BRCA2	Pathogenic	13	32907257	32907257	C	T	reviewed by expert panel	ClinGen:CA012735
single nucleotide variant	NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter)	BRCA2	Pathogenic	13	32907434	32907434	A	T	reviewed by expert panel	ClinGen:CA013458