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.837+2T>C	RAD51C	Likely pathogenic	17	56787353	56787353	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.837+1del	RAD51C	Likely pathogenic	17	56787352	56787352	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658647
single nucleotide variant	NM_058216.3(RAD51C):c.837+1G>T	RAD51C	Pathogenic/Likely pathogenic	17	56787352	56787352	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583607
single nucleotide variant	NM_058216.3(RAD51C):c.837+1G>A	RAD51C	Pathogenic	17	56787352	56787352	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677333,OMIM:602774.0008
Deletion	NC_000017.11:g.(?_58703196)_(58709990_?)del	RAD51C	Pathogenic	17	56780557	56787351	na	na	criteria provided, single submitter	-
Deletion	NM_058216.1(RAD51C):c.(?_-1)_837+?del	RAD51C	Pathogenic	17	56770004	56787351	na	na	criteria provided, single submitter	-
Deletion	NM_058216.3(RAD51C):c.821del (p.Asn274fs)	RAD51C	Pathogenic	17	56787333	56787333	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA626735758
single nucleotide variant	NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter)	RAD51C	Pathogenic	17	56787316	56787316	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_058216.3(RAD51C):c.774del (p.Thr259fs)	RAD51C	Pathogenic/Likely pathogenic	17	56787288	56787288	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8677328
single nucleotide variant	NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	RAD51C	Pathogenic/Likely pathogenic	17	56787287	56787287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168628,UniProtKB:O43502#VAR_064032,OMIM:602774.0001