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_058216.2(RAD51C):c.706-?_*120del	RAD51C	Pathogenic	17	56787220	56811703	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.706-1G>T	RAD51C	Likely pathogenic	17	56787219	56787219	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400353039
single nucleotide variant	NM_058216.3(RAD51C):c.706-2A>C	RAD51C	Pathogenic/Likely pathogenic	17	56787218	56787218	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_058216.3(RAD51C):c.706-2A>G	RAD51C	Pathogenic/Likely pathogenic	17	56787218	56787218	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA288628
Deletion	NC_000017.11:g.(?_58709853)_(58709996_?)del	RAD51C	Likely pathogenic	17	56787214	56787357	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709849)_(58710000_?)del	RAD51C	Likely pathogenic	17	56787210	56787361	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709849)_(58734232_?)del	RAD51C	Pathogenic	17	56787210	56811593	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_058216.3(RAD51C):c.705+1G>A	RAD51C	Likely pathogenic	17	56780691	56780691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580748
single nucleotide variant	NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)	RAD51C	Pathogenic	17	56780686	56780686	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA169763
single nucleotide variant	NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)	RAD51C	Pathogenic	17	56780677	56780677	C	G	criteria provided, multiple submitters, no conflicts	-