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.803G>A (p.Trp268Ter)	RAD51D	Pathogenic	17	33428320	33428320	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA501240,OMIM:602954.0002
single nucleotide variant	NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)	RAD51D	Likely pathogenic	17	33428222	33428222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615706
Duplication	NM_002878.4(RAD51D):c.728dup (p.Met243fs)	RAD51D	Likely pathogenic	17	33430282	33430283	C	CA	criteria provided, single submitter	ClinGen:CA16615598
single nucleotide variant	NM_002878.4(RAD51D):c.185C>A (p.Ser62Ter)	RAD51D	Pathogenic	17	33445598	33445598	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615337
Deletion	NC_000017.11:g.(?_35099792)_(35103544_?)del	RAD51D	Pathogenic	17	33426811	33430563	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)	RAD51D	Pathogenic	17	33434009	33434009	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607207
Deletion	NM_002878.4(RAD51D):c.85del (p.Val29fs)	RAD51D	Pathogenic/Likely pathogenic	17	33446189	33446189	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042160
single nucleotide variant	NM_002878.4(RAD51D):c.576+1G>A	RAD51D	Pathogenic/Likely pathogenic	17	33433404	33433404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499450
single nucleotide variant	NM_002878.4(RAD51D):c.263+2T>C	RAD51D	Likely pathogenic	17	33445518	33445518	A	G	criteria provided, single submitter	ClinGen:CA10583536
Duplication	NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)	RAD51D	Pathogenic/Likely pathogenic	17	33434458	33434459	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499526