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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFHR5
(T21I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(R69H)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+2 more
GUncertain significance
CFHR5
(S78P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
(T80K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(P81L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
Duplication
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
CFHR5
(M86I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(N115S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(T143P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFHR5
(E163fs)
Duplication
not provided
+3 more
GConflicting classifications of pathogenicity
CFHR5
(V170M)
Single nucleotide variant
(missense variant)
CFHR5 deficiency
+2 more
GConflicting classifications of pathogenicity
CFHR5
(G203E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(C208R)
Single nucleotide variant
(missense variant)
Chronic kidney disease
+2 more
GConflicting classifications of pathogenicity
CFHR5
(N216S)
Single nucleotide variant
(missense variant)
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
+1 more
GConflicting classifications of pathogenicity
CFHR5
(Y235H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(C237*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CFHR5
(G245R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(D253E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(Y279N)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CFHR5
(Q281K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFHR5
(K329del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CFHR5
(R356C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CFHR5
(Q387K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(Q399*)
Single nucleotide variant
(nonsense)
CFHR5 deficiency
+2 more
GUncertain significance
CFHR5
(R441H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CFHR5
(T446N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(G471E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CFHR5
(M514T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(Q520fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CFHR5
(L521I)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CFHR5
(D535G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CFHR5
(F539V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(I549M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(R555P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFHR5
(P566S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(P566L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFHR5
(I567V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CFHR5
(C568*)
Single nucleotide variant
(nonsense)
Kidney disorder
+4 more
GConflicting classifications of pathogenicity
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