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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(R286fs +1 more)
Deletion
(frameshift variant +1 more)
Focal segmental glomerulosclerosis
+3 more
GPathogenic/Likely pathogenic
NPHS2
(R138Q)
Single nucleotide variant
(missense variant)
Chronic kidney disease
+3 more
GPathogenic/Likely pathogenic
WT1
Single nucleotide variant
(intron variant)
Frasier syndrome
+6 more
GPathogenic/Likely pathogenic
WT1
(R250W +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GPathogenic/Likely pathogenic
WT1
(Q427H +10 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic range proteinuria
GLikely pathogenic
NPHS1
(P167L)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+3 more
GLikely pathogenic
APOL1
(S358G +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity; risk factor
APOL1
(I400M +2 more)
Single nucleotide variant
(missense variant)
APOL1-associated kidney disease
+3 more
GConflicting classifications of pathogenicity; risk factor
APOL1
Deletion
(inframe_deletion)
not specified
+3 more
GConflicting classifications of pathogenicity; risk factor
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