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.5278-2A>T	BRCA1	Likely pathogenic	17	41203136	41203136	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003437
single nucleotide variant	NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)	BRCA1	Likely pathogenic	17	41201182	41201182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003528
single nucleotide variant	NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	BRCA1	Likely pathogenic	17	41199695	41199695	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003594
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
Insertion	NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)	BRCA2	Likely pathogenic	13	32913835	32913836	T	TA	criteria provided, single submitter	ClinGen:CA022051
single nucleotide variant	NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)	BRCA1	Likely pathogenic	17	41215379	41215379	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003317
single nucleotide variant	NM_007294.4(BRCA1):c.5467+2T>G	BRCA1	Likely pathogenic	17	41199658	41199658	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5586+2&base_change=T to G,ClinGen:CA003612
Indel	NM_007294.4(BRCA1):c.5153-16_5156delinsAATA	BRCA1	Likely pathogenic	17	41215387	41215406	ACCCCTAAAGAGATCATAGA	TATT	criteria provided, single submitter	ClinGen:CA164592
single nucleotide variant	NM_058216.3(RAD51C):c.405-1G>C	RAD51C	Likely pathogenic	17	56774053	56774053	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA333229
single nucleotide variant	NM_007294.4(BRCA1):c.4358-2786G>A	BRCA1	Likely pathogenic	17	41231417	41231417	C	T	criteria provided, single submitter	ClinGen:CA002798