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_002878.4(RAD51D):c.671T>A (p.Leu224Ter)	RAD51D	Pathogenic	17	33430340	33430340	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_35118495)_(35119619_?)del	RAD51D	Pathogenic	17	33445514	33446638	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_35118491)_(35119623_?)del	RAD51D	Pathogenic	17	33445510	33446642	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.141C>A (p.Tyr47Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33446133	33446133	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002878.4(RAD51D):c.738+1G>A	RAD51D	Likely pathogenic	17	33430272	33430272	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_35118491)_(35118629_?)del	RAD51D	Pathogenic	17	33445510	33445648	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.668-2A>C	RAD51D	Likely pathogenic	17	33430345	33430345	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_35103244)_(35119623_?)del	RAD51D	Pathogenic	17	33430263	33446642	na	na	criteria provided, single submitter	-
Duplication	NM_002878.4(RAD51D):c.6_13dup (p.Arg5fs)	RAD51D	Likely pathogenic	17	33446619	33446620	C	CTGAGCACG	criteria provided, single submitter	-
Duplication	NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33428381	33428382	T	TCA	criteria provided, multiple submitters, no conflicts	-