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_002878.4(RAD51D):c.148del (p.Leu50fs)	RAD51D	Pathogenic	17	33445635	33445635	AG	A	criteria provided, single submitter	ClinGen:CA658798817
Deletion	NM_002878.4(RAD51D):c.210_229del (p.Tyr72fs)	RAD51D	Pathogenic	17	33445554	33445573	GTCTTCAGTTCCTCGTAGAGA	G	criteria provided, single submitter	ClinGen:CA658798816
single nucleotide variant	NM_002878.4(RAD51D):c.351T>A (p.Cys117Ter)	RAD51D	Pathogenic	17	33434136	33434136	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089400
single nucleotide variant	NM_002878.4(RAD51D):c.685C>T (p.Gln229Ter)	RAD51D	Pathogenic	17	33430326	33430326	G	A	criteria provided, single submitter	ClinGen:CA399087718
Deletion	NM_002878.4(RAD51D):c.664del (p.Glu222fs)	RAD51D	Pathogenic	17	33430476	33430476	TC	T	criteria provided, single submitter	ClinGen:CA658684029
single nucleotide variant	NM_002878.4(RAD51D):c.82+1G>T	RAD51D	Likely pathogenic	17	33446550	33446550	C	A	criteria provided, single submitter	ClinGen:CA399092229
Duplication	NM_002878.4(RAD51D):c.641dup (p.Leu215fs)	RAD51D	Likely pathogenic	17	33430498	33430499	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA625782483
single nucleotide variant	NM_002878.4(RAD51D):c.216C>A (p.Tyr72Ter)	RAD51D	Pathogenic	17	33445567	33445567	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399091296
single nucleotide variant	NM_002878.4(RAD51D):c.264-2A>C	RAD51D	Likely pathogenic	17	33434468	33434468	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399090042
single nucleotide variant	NM_002878.4(RAD51D):c.577-2A>G	RAD51D	Pathogenic/Likely pathogenic	17	33430565	33430565	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399088005