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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS2
Single nucleotide variant
(intron variant +1 more)
Idiopathic nephrotic syndrome
+2 more
GPathogenic/Likely pathogenic
WT1
(G205V +9 more)
Single nucleotide variant
(missense variant +1 more)
Familial idiopathic steroid-resistant nephrotic syndrome
+1 more
GLikely pathogenic
NPHS1
(R800C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHS1
(S1058L)
Single nucleotide variant
(missense variant)
NPHS1-related condition
+2 more
GConflicting classifications of pathogenicity
WT1
Single nucleotide variant
(intron variant)
not provided
+6 more
GPathogenic/Likely pathogenic
WT1
Single nucleotide variant
(intron variant)
Frasier syndrome
+10 more
GPathogenic
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