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.914G>A (p.Trp305Ter)	RAD51C	Pathogenic/Likely pathogenic	17	56801410	56801410	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580757
Deletion	NM_058216.3(RAD51C):c.910del (p.Ser304fs)	RAD51C	Pathogenic/Likely pathogenic	17	56801404	56801404	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658629
Deletion	NM_058216.3(RAD51C):c.905-3_906del	RAD51C	Pathogenic/Likely pathogenic	17	56801398	56801402	TCAGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299908
Deletion	NM_058216.3(RAD51C):c.905-2_905-1del	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801400	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA166374
single nucleotide variant	NM_058216.3(RAD51C):c.905-2A>G	RAD51C	Pathogenic	17	56801399	56801399	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584582
Deletion	NM_058216.3(RAD51C):c.905-2del	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801399	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580755
single nucleotide variant	NM_058216.3(RAD51C):c.905-2A>C	RAD51C	Pathogenic/Likely pathogenic	17	56801399	56801399	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA338869
Deletion	NC_000017.11:g.(?_58720740)_(58720818_?)del	RAD51C	Pathogenic	17	56798101	56798179	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_56798101)_(56798179_?)dup	RAD51C	Likely pathogenic	17	56798101	56798179	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.904+5G>T	RAD51C	Pathogenic/Likely pathogenic	17	56798178	56798178	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169350,OMIM:602774.0002