"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163772	NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	CFHR5 (R69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 599457	NM_030787.4(CFHR5):c.254-5C>T	CFHR5	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 294539	NM_030787.4(CFHR5):c.429T>C (p.Thr143=)	CFHR5	Single nucleotide variant (synonymous variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 294541	NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication (frameshift variant)	Kidney disorder +4 more	GConflicting classifications of pathogenicity
Select item 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 294547	NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	CFHR5 (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1285198	NM_030787.4(CFHR5):c.1029G>A (p.Lys343=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 722573	NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile)	CFHR5 (L521I)	Single nucleotide variant (missense variant)	not provided	GLikely benign