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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)
NPHS1-related condition
+2 more
GConflicting classifications of pathogenicity
NPHS1
(G958E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHS1
(R800C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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)
NPHS1-related condition
+4 more
GConflicting classifications of pathogenicity
NPHS1
(E447K)
Single nucleotide variant
(missense variant)
not specified
+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 condition
+2 more
GPathogenic
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