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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS1
(A1188T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NPHS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
NPHS1
Single nucleotide variant
(splice donor variant)
Finnish congenital nephrotic syndrome
GUncertain significance
NPHS1
(R1109*)
Single nucleotide variant
(nonsense)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic
NPHS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS1
Deletion
(intron variant)
Finnish congenital nephrotic syndrome
GConflicting classifications of pathogenicity
NPHS1
(G967R)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GPathogenic
NPHS1
(N870fs)
Duplication
(frameshift variant)
Finnish congenital nephrotic syndrome
GPathogenic
NPHS1
(A806D)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
NPHS1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPHS1
(P674L)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GPathogenic
NPHS1
(C623F)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
NPHS1
(C567*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
NPHS1
(R460Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPHS1
(I446N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS1
(R407W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS1
(W289*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
NPHS1
(A107V)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GUncertain significance
KIRREL2, NPHS1
(A47fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
KIRREL2, NPHS1
(Q23fs)
Deletion
(frameshift variant)
Finnish congenital nephrotic syndrome
GPathogenic
KIRREL2, NPHS1
(L16fs)
Duplication
(frameshift variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic
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