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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS1
Single nucleotide variant
(splice acceptor variant)
Finnish congenital nephrotic syndrome
GLikely pathogenic
NPHS1
(S1058L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS1
(G958E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NPHS1
(R800C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
NPHS1
(G601A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHS1
(R586G)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GPathogenic
NPHS1
(T537M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHS1
(E447K)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+4 more
GConflicting classifications of pathogenicity
NPHS1
(L433F)
Single nucleotide variant
(missense variant)
Congenital nephrotic syndrome
GUncertain significance
NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KIRREL2, NPHS1
(L41fs)
Deletion
(frameshift variant)
NPHS1-related disorder
+2 more
GPathogenic
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