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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
(V957E)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GLikely pathogenic
NPHS1
(L903P)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GUncertain significance
NPHS1
(S366R)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic
NPHS1
(S350P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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