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Items: 1 to 100 of 199

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AXDND1, NPHS2
(H208fs +1 more)
Duplication
(frameshift variant +1 more)
NPHS2-related disorder
GPathogenic
AXDND1, NPHS2
(R254L +1 more)
Single nucleotide variant
(missense variant +1 more)
NPHS2-related disorder
GUncertain significance
AXDND1, NPHS2
(D199Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NPHS2
Deletion
not provided
GPathogenic
NPHS2
Deletion
not provided
GPathogenic
NPHS2
(G17fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(Q217* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(A100fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(S120P)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(P43fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GPathogenic
NPHS2
(C193*)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(R138P)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
(K289E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NPHS2, AXDND1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
NPHS2, AXDND1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
(H325Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NPHS2
(P157fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
Deletion
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(F155fs)
Microsatellite
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
Single nucleotide variant
(intron variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(K22fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(L282fs +1 more)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(K231fs +1 more)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(E11fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2, AXDND1
(Y255* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
Single nucleotide variant
(intron variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(E198A)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(V200M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXDND1, NPHS2
(R201S +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
AXDND1, NPHS2
(H325Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
AXDND1, NPHS2
(A295T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GBenign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
(K309R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely pathogenic
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NPHS2, AXDND1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NPHS2
(E90fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
AXDND1, NPHS2
(R194* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(P248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Focal segmental glomerulosclerosis
GUncertain significance
AXDND1, NPHS2
(S245L +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Microsatellite
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Deletion
(intron variant)
not provided
GBenign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
(H1012N)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXDND1, NPHS2
(E242K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(K308R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(E242G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
AXDND1, NPHS2
(S286fs +1 more)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome
GLikely pathogenic
AXDND1, NPHS2
Deletion
(inframe_deletion +1 more)
Nephrotic syndrome
GLikely pathogenic
AXDND1, NPHS2
(N306Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome
GLikely pathogenic
AXDND1, NPHS2
(A180T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Nephrotic syndrome
GLikely pathogenic
AXDND1, NPHS2
(Q260R +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
GBenign
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