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.463C>T (p.Gln155Ter)	RAD51D	Pathogenic	17	33434024	33434024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089180
Duplication	NM_002878.4(RAD51D):c.623dup (p.Thr209fs)	RAD51D	Pathogenic/Likely pathogenic	17	33430516	33430517	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16622123
single nucleotide variant	NM_002878.4(RAD51D):c.739-1G>A	RAD51D	Likely pathogenic	17	33428385	33428385	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399086994
single nucleotide variant	NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter)	RAD51D	Pathogenic	17	33445605	33445605	G	A	criteria provided, single submitter	ClinGen:CA399091493
Duplication	NM_002878.4(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer)	RAD51D	Pathogenic	17	33445553	33445554	G	GTCTTCAGTTCCTCGTAGAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656592
single nucleotide variant	NM_002878.4(RAD51D):c.346-1G>C	RAD51D	Pathogenic/Likely pathogenic	17	33434142	33434142	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089412
single nucleotide variant	NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33430491	33430491	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499398
single nucleotide variant	NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)	RAD51D	Pathogenic/Likely pathogenic	17	33430485	33430485	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8499397
single nucleotide variant	NM_002878.4(RAD51D):c.343C>T (p.Gln115Ter)	RAD51D	Pathogenic	17	33434387	33434387	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399089884
Insertion	NM_002878.4(RAD51D):c.461_462insTT (p.Gln155fs)	RAD51D	Pathogenic	17	33434025	33434026	G	GAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656582