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Links from MedGen

Items: 1 to 100 of 198

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(E11fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(R138P)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(I189R)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS2
(I114del)
Microsatellite
(inframe_deletion)
Nephrotic syndrome, type 2
GUncertain significance
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
(intron 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
(L98fs)
Deletion
(frameshift variant)
NPHS2-related disorder
+2 more
GPathogenic
NPHS2
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(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
NPHS2
(V64fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(S86fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(S46fs)
Duplication
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(R201S +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2, AXDND1
(A295T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS2
(Y162fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS2
(H21fs)
Insertion
(frameshift variant)
Nephrotic syndrome, type 2
+1 more
GPathogenic/Likely pathogenic
NPHS2
(C124R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS2
(F137fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(F176fs)
Indel
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(A82fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(K212fs)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(R194* +1 more)
Single nucleotide variant
(nonsense +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(Y131*)
Single nucleotide variant
(nonsense)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(F176fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(P118S)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GUncertain significance
AXDND1, NPHS2
(S245L +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+1 more
GUncertain significance
NPHS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
NPHS2
(C124Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
(E242K +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+2 more
GPathogenic/Likely pathogenic
NPHS2
Indel
(splice donor variant)
not provided
+1 more
GPathogenic
NPHS2
(L169P)
Single nucleotide variant
(missense variant)
Idiopathic nephrotic syndrome
+2 more
GPathogenic
NPHS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(intron variant +1 more)
Nephrotic syndrome, type 2
+1 more
GPathogenic/Likely pathogenic
NPHS2
(R133fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NPHS2
(M1L)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GPathogenic
AXDND1, NPHS2
(Q260R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NPHS2
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 2
+1 more
GBenign
NPHS2
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 2
+1 more
GBenign
NPHS2
Single nucleotide variant
(genic upstream transcript variant)
not provided
+1 more
GBenign
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
NPHS2
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome, type 2
+1 more
GLikely benign
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS2
(D183Y)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
AXDND1, NPHS2
(W188* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS2
(Y162*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AXDND1, NPHS2
(F276fs +1 more)
Deletion
(intron variant +1 more)
Nephrotic syndrome, type 2
+1 more
GPathogenic/Likely pathogenic
NPHS2
Deletion
(splice acceptor variant)
Nephrotic syndrome, type 2
+1 more
GPathogenic/Likely pathogenic
NPHS2
(M187I)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+2 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
(A240V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
AXDND1, NPHS2
(A250del +1 more)
Deletion
(inframe_deletion +1 more)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(R238S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
NPHS2
(R146fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NPHS2
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NPHS2
(G140fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
+2 more
GPathogenic
NPHS2
(E87*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
(M224T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
(R6Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS2
(G74S)
Single nucleotide variant
(missense variant)
NPHS2-related disorder
+2 more
GUncertain significance
NPHS2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephrotic syndrome, type 2
GUncertain significance
NPHS2
(V127I)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(I192fs)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GPathogenic
AXDND1, NPHS2
(Q260fs +1 more)
Deletion
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GPathogenic
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
Nephrotic syndrome, type 2
+1 more
GLikely benign
NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+2 more
GBenign/Likely benign
NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
AXDND1, NPHS2
(E310V +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
GPathogenic
AXDND1, NPHS2
(Q275fs +1 more)
Duplication
(frameshift variant +1 more)
Nephrotic syndrome, type 2
GPathogenic
NPHS2
(E56fs)
Deletion
(frameshift variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(D160V)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 2
GLikely pathogenic
NPHS2
(E237Q)
Single nucleotide variant
(missense variant +1 more)
Nephrotic syndrome, type 2
+4 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
NPHS2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AXDND1, NPHS2
(N355S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AXDND1, NPHS2
(A284V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
AXDND1, NPHS2
Deletion
(inframe_deletion +1 more)
Nephrotic syndrome, type 2
GUncertain significance
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