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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL4A4
(A880fs)
Deletion
(frameshift variant)
Benign familial hematuria
+5 more
GPathogenic
COL4A4
(P416A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
COL4A4
(G285E)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
COL4A4
(P263R)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+1 more
GConflicting classifications of pathogenicity
LAMB2
(R1436H)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+2 more
GUncertain significance
PLCE1
(Q252H)
Single nucleotide variant
(missense variant)
Glomerulonephritis
GUncertain significance
INF2
(I685T)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+2 more
GUncertain significance
NPHS1
(E782K)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GUncertain significance
MYH9
(A1729S)
Single nucleotide variant
(missense variant)
Glomerulonephritis
+3 more
GConflicting classifications of pathogenicity
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