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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP93
(F566I +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
BMP7
(R289H)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
(R455P +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GLikely pathogenic
NUP93
(R376C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUP93
(I591T +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
Single nucleotide variant
(splice acceptor variant)
Nephrotic syndrome, type 12
GLikely pathogenic
NUP93
(R402Q +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NUP93
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 12
+1 more
GBenign/Likely benign
NUP93
(R550W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GUncertain significance
NUP93
(R539K +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GUncertain significance
NUP93
(P181S +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GUncertain significance
NUP93
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome, type 12
+1 more
GBenign
NUP93
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NUP93
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
NUP93
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 12
+1 more
GBenign
NUP93
(M129K +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
(D84E +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GUncertain significance
NUP93
(L693F +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
(H365R +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
(I583M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
NUP93
(A613P +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GUncertain significance
NUP93
(V570E +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
GLikely pathogenic
NUP93
Deletion
(inframe_deletion)
Nephrotic syndrome, type 12
+1 more
GConflicting classifications of pathogenicity
NUP93
(R388W +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+2 more
GConflicting classifications of pathogenicity
NUP93
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 12
GPathogenic
NUP93
(K319fs +1 more)
Deletion
(frameshift variant)
Nephrotic syndrome, type 12
GPathogenic
NUP93
(Y629C +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GPathogenic/Likely pathogenic
NUP93
(G591V +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GPathogenic/Likely pathogenic
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