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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS1
(R1160*)
Single nucleotide variant
(nonsense)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic
NPHS1
(P838S)
Single nucleotide variant
(missense variant)
Focal segmental glomerulosclerosis
+1 more
GUncertain significance
NPHS1
(P838T)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GLikely pathogenic
NPHS1
(R268Q)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+3 more
GConflicting classifications of pathogenicity
KIRREL2, NPHS1
(T5M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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