"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127896	NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)	RAD51D, RAD51L3-RFFL (I311N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 676537	NM_002878.4(RAD51D):c.903+53C>T	RAD51D, RAD51L3-RFFL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 410569	NM_002878.4(RAD51D):c.782A>C (p.Lys261Thr)	RAD51D, RAD51L3-RFFL (K261T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GUncertain significance
Select item 138873	NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)	RAD51D, RAD51L3-RFFL (E233G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 138872	NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)	RAD51D, RAD51L3-RFFL (R232Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Breast and/or ovarian cancer +4 more	GBenign/Likely benign
Select item 127893	NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	RAD51D, RAD51L3-RFFL (R232* +2 more)	Single nucleotide variant (nonsense +1 more)	Diffuse midline glioma, H3 K27-altered +5 more	GPathogenic/Likely pathogenic
Select item 371839	NM_002878.4(RAD51D):c.576+1G>A	RAD51D, RAD51L3-RFFL	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 4 +1 more	GPathogenic/Likely pathogenic
Select item 142159	NM_002878.4(RAD51D):c.494G>A (p.Arg165Gln)	RAD51L3-RFFL, RAD51D (R165Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 183785	NM_002878.4(RAD51D):c.234C>T (p.Ser78=)	RAD51D, RAD51L3-RFFL	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 410548	NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser)	RAD51D, RAD51L3-RFFL (G68S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 141578	NM_002878.4(RAD51D):c.196G>A (p.Val66Met)	RAD51D, RAD51L3-RFFL (V66M)	Single nucleotide variant (missense variant +1 more)	RAD51D-related condition +6 more	GConflicting classifications of pathogenicity
Select item 141453	NM_002878.4(RAD51D):c.145-4G>A	RAD51D, RAD51L3-RFFL	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 127882	NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)	RAD51D, RAD51L3-RFFL (S46C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity