"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294531	NM_030787.4(CFHR5):c.-20T>C	CFHR5	Single nucleotide variant (5 prime UTR variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign
Select item 775635	NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	CFHR5 (P46S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 599457	NM_030787.4(CFHR5):c.254-5C>T	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 294536	NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	CFHR5 (V110A)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
Select item 294539	NM_030787.4(CFHR5):c.429T>C (p.Thr143=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +4 more	GBenign/Likely benign
Select item 294540	NM_030787.4(CFHR5):c.434G>A (p.Gly145Glu)	CFHR5 (G145E)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign
Select item 294541	NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)	CFHR5 (E163fs)	Duplication (frameshift variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1712432	NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)	CFHR5 (S215P)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 873626	NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	CFHR5 (N216Y)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GUncertain significance
Select item 294545	NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	CFHR5 (N216I)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GUncertain significance
Select item 1712441	NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)	CFHR5 (G228A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 713772	NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
Select item 377177	NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	CFHR5 (G278S)	Single nucleotide variant (missense variant)	CFHR5 deficiency +4 more	GBenign/Likely benign
Select item 402533	NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	CFHR5 (R356H)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome +4 more	GBenign/Likely benign
Select item 1712457	NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)	CFHR5 (V369G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712463	NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)	CFHR5 (V405E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GUncertain significance
Select item 1712447	NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)	CFHR5 (L422V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GLikely benign
Select item 717499	NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	CFHR5 (M514R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 789701	NM_030787.4(CFHR5):c.1704T>A (p.Cys568Ter)	CFHR5 (C568*)	Single nucleotide variant (nonsense)	Kidney disorder +4 more	GConflicting classifications of pathogenicity