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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(G273W +1 more)
Single nucleotide variant
(missense variant +1 more)
Proteinuria
GUncertain significance
NPHS2
(R229Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
NPHS2
(P118L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
WT1
(M38K +2 more)
Single nucleotide variant
(missense variant +1 more)
Wilms tumor 1
+8 more
GConflicting classifications of pathogenicity
INF2
(Y50S)
Single nucleotide variant
(missense variant)
INF2-related disorder
GUncertain significance
NPHS1
(G958E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NPHS1
(G601A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHS1
(T537M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHS1
(E447K)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+4 more
GConflicting classifications of pathogenicity
NPHS1
(L433F)
Single nucleotide variant
(missense variant)
Congenital nephrotic syndrome
GUncertain significance
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