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_058216.3(RAD51C):c.904+1G>T	RAD51C	Likely pathogenic	17	56798174	56798174	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400359845
Duplication	NM_000059.4(BRCA2):c.764dup (p.Asn255fs)	BRCA2	Pathogenic/Likely pathogenic	13	32905134	32905135	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656371
single nucleotide variant	NM_000059.4(BRCA2):c.1753A>T (p.Lys585Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32907368	32907368	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387765514
single nucleotide variant	NM_000059.4(BRCA2):c.1910-2A>T	BRCA2	Pathogenic/Likely pathogenic	13	32910400	32910400	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387768195
single nucleotide variant	NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32911181	32911181	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387773453
Deletion	NM_000059.4(BRCA2):c.3401del (p.Ser1134fs)	BRCA2	Pathogenic/Likely pathogenic	13	32911893	32911893	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656408
Duplication	NM_000059.4(BRCA2):c.5223dup (p.Asn1742Ter)	BRCA2	Likely pathogenic	13	32913714	32913715	G	GT	criteria provided, single submitter	ClinGen:CA658656385
Duplication	NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs)	BRCA2	Likely pathogenic	13	32914577	32914578	G	GA	criteria provided, single submitter	ClinGen:CA658656414
single nucleotide variant	NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41223043	41223043	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591749
single nucleotide variant	NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41245197	41245197	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10597305