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>A	RAD51C	Likely pathogenic	17	56798174	56798174	G	A	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)	RAD51C	Pathogenic	17	56798156	56798165	TTGCTTGTTCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658626
Deletion	NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)	RAD51C	Pathogenic	17	56798118	56798121	CCAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615476
Duplication	NM_058216.3(RAD51C):c.851_854dup (p.Met286fs)	RAD51C	Pathogenic	17	56798117	56798118	C	CCAAT	criteria provided, single submitter	ClinGen:CA658658625
single nucleotide variant	NM_058216.3(RAD51C):c.838-2A>G	RAD51C	Likely pathogenic	17	56798105	56798105	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA400359301
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.(?_58692634)_(58710000_?)del	RAD51C	Pathogenic	17	56769995	56787361	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_58709853)_(58709996_?)del	RAD51C	Likely pathogenic	17	56787214	56787357	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(?_56769999)_(56787357_?)del	RAD51C	Pathogenic	17	56769999	56787357	na	na	criteria provided, single submitter	-