"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CFHR5"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 874581	NM_030787.4(CFHR5):c.178G>C (p.Val60Leu)	CFHR5 (V60L)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance
Select item 1163772	NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	CFHR5 (R69H)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GUncertain significance
Select item 294535	NM_030787.4(CFHR5):c.254-8T>G	CFHR5	Single nucleotide variant (intron variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 294537	NM_030787.4(CFHR5):c.330A>C (p.Val110=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 1693735	NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)	CFHR5 (T143P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1673811	NM_030787.4(CFHR5):c.465T>C (p.Asn155=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 294542	NM_030787.4(CFHR5):c.507C>T (p.Asp169=)	CFHR5	Single nucleotide variant (synonymous variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +3 more	GBenign/Likely benign
Select item 876519	NM_030787.4(CFHR5):c.508G>A (p.Val170Met)	CFHR5 (V170M)	Single nucleotide variant (missense variant)	CFHR5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 37240	NM_030787.4(CFHR5):c.583T>A (p.Ser195Thr)	CFHR5 (S195T)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance
Select item 294543	NM_030787.4(CFHR5):c.608-3T>A	CFHR5	Single nucleotide variant (intron variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 449557	NM_030787.4(CFHR5):c.646_647inv (p.Asn216Phe)	CFHR5 (N216F)	Inversion (missense variant)	not provided +1 more	GUncertain significance
Select item 873627	NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr)	CFHR5 (I222T)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GUncertain significance
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 1593623	NM_030787.4(CFHR5):c.846G>A (p.Pro282=)	CFHR5	Single nucleotide variant (synonymous variant)	CFHR5 deficiency +1 more	GLikely benign
Select item 725332	NM_030787.4(CFHR5):c.1116C>T (p.Asn372=)	CFHR5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716750	NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser)	CFHR5 (R385S)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +2 more	GBenign/Likely benign
Select item 632093	NM_030787.4(CFHR5):c.1225del (p.Asp409fs)	CFHR5 (D409fs)	Deletion (frameshift variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 1338220	NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln)	CFHR5 (R435Q)	Single nucleotide variant (missense variant)	CFHR5 deficiency +1 more	GUncertain significance
Select item 875560	NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp)	CFHR5 (N457D)	Single nucleotide variant (missense variant)	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II +1 more	GUncertain significance

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Items: 21