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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHS1
(R1160*)
Single nucleotide variant
(nonsense)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic
NPHS1
(V1084fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS1
(S910P)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+2 more
GConflicting classifications of pathogenicity
NPHS1
Single nucleotide variant
(intron variant)
Finnish congenital nephrotic syndrome
+1 more
GUncertain significance
NPHS1
(P674T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NPHS1
(A672T)
Single nucleotide variant
(missense variant)
Nephrotic syndrome
GLikely pathogenic
NPHS1
(C623F)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
+1 more
GPathogenic/Likely pathogenic
NPHS1
(L587R)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GPathogenic
NPHS1
(R460Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NPHS1
(S350P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS1
(P243L)
Single nucleotide variant
(missense variant)
Finnish congenital nephrotic syndrome
GLikely pathogenic
NPHS1
(T172del)
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
KIRREL2, NPHS1
(A47fs)
Deletion
(frameshift variant)
Nephrotic syndrome
+3 more
GPathogenic/Likely pathogenic
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