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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS1
(N1077S)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+4 more
GBenign
NPHS1
(V957L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHS1
Deletion
(frameshift variant)
not provided
GPathogenic
NPHS1
(E447K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
NPHS1
(T294I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
NPHS1
(P264R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
NPHS1
(S220A)
Single nucleotide variant
(missense variant)
Congenital nephrotic syndrome
+2 more
GConflicting classifications of pathogenicity
NPHS1
(N188I)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
KIRREL2, NPHS1
(A9T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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