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
Deletion	NM_007294.4(BRCA1):c.1505_1509del (p.Leu502fs)	BRCA1	Pathogenic	17	41246039	41246043	GCTTTA	G	reviewed by expert panel	ClinGen:CA10580662
single nucleotide variant	NM_007294.4(BRCA1):c.1319T>G (p.Leu440Ter)	BRCA1	Pathogenic	17	41246229	41246229	A	C	reviewed by expert panel	ClinGen:CA10580671
Deletion	NM_007294.4(BRCA1):c.1252del (p.Glu418fs)	BRCA1	Pathogenic	17	41246296	41246296	TC	T	reviewed by expert panel	ClinGen:CA10580673
Indel	NM_007294.4(BRCA1):c.1232_1235delinsCA (p.Asp411fs)	BRCA1	Pathogenic	17	41246313	41246316	ACAT	TG	reviewed by expert panel	ClinGen:CA10580674
single nucleotide variant	NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter)	BRCA1	Pathogenic	17	41246393	41246393	C	T	reviewed by expert panel	ClinGen:CA10580676
Duplication	NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)	BRCA1	Pathogenic	17	41246407	41246408	T	TC	reviewed by expert panel	ClinGen:CA10580677
Insertion	NM_007294.4(BRCA1):c.1105_1106insTC (p.Asp369fs)	BRCA1	Pathogenic	17	41246442	41246443	T	TGA	criteria provided, single submitter	ClinGen:CA10580680
Deletion	NM_007294.4(BRCA1):c.1002del (p.Ser335fs)	BRCA1	Pathogenic	17	41246546	41246546	TG	T	reviewed by expert panel	ClinGen:CA10580686
Deletion	NM_007294.4(BRCA1):c.456del (p.Ser153fs)	BRCA1	Pathogenic	17	41251883	41251883	TG	T	reviewed by expert panel	ClinGen:CA10580697
single nucleotide variant	NM_058216.3(RAD51C):c.145+1G>T	RAD51C	Pathogenic/Likely pathogenic	17	56770150	56770150	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580723