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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMARCAL1
(E848*)
Single nucleotide variant
(nonsense)
Steroid-resistant nephrotic syndrome
+10 more
GPathogenic
LAMB2
(H1383Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+2 more
GUncertain significance
SLC17A5
(V393I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PLCE1
(S1000N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PLCE1
(G1183S +2 more)
Single nucleotide variant
(missense variant)
PLCE1-related disorder
+5 more
GConflicting classifications of pathogenicity
PLCE1, NOC3L
(D1906N +2 more)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
GUncertain significance
WT1
(R246Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Frasier syndrome
+8 more
GConflicting classifications of pathogenicity
INF2
(E955Q)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis 5
+2 more
GUncertain significance
NPHS1
(R976S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+4 more
GPathogenic/Likely pathogenic
ACTN4
(Q392E)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GConflicting classifications of pathogenicity
MYH9
(E1453G)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GUncertain significance
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