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Links from MedGen

Items: 1 to 100 of 685

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WFS1
(K369*)
Insertion
(nonsense)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(V659F)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain significance
WFS1
(A559D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
WFS1
Deletion
(inframe deletion)
Wolfram syndrome 1
+1 more
GUncertain significance
WFS1
(Y480C)
Single nucleotide variant
(missense variant)
WFS1-related disorder
+1 more
GUncertain significance
WFS1
Single nucleotide variant
(splice donor variant)
Wolfram syndrome 1
GPathogenic
WFS1
(W613*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GPathogenic
WFS1
(Y669C)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(L543F)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(T857I)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain significance
WFS1
Single nucleotide variant
Wolfram syndrome 1
GBenign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
+1 more
GLikely benign
WFS1
(S784R)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
(G820V)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely risk allele
WFS1
(Q819E)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely risk allele
WFS1
(F649L)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain significance
WFS1
(Q687H)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely risk allele
WFS1
(W612C)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain risk allele
WFS1
(A677G)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain risk allele
WFS1
Single nucleotide variant
(3 prime UTR variant)
Wolfram syndrome 1
GBenign
WFS1
Indel
(3 prime UTR variant)
Wolfram syndrome 1
GUncertain significance
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
+1 more
GBenign/Likely benign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
(Y454*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GPathogenic
WFS1
(Y508fs)
Deletion
(frameshift variant)
Wolfram syndrome 1
+2 more
GPathogenic/Likely pathogenic
WFS1
(D880N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WFS1
(T701S)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+2 more
GUncertain significance
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
(G398S)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+2 more
GUncertain significance/Uncertain risk allele
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
(A295G)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
+1 more
GConflicting classifications of pathogenicity
WFS1
Single nucleotide variant
(intron variant)
Wolfram syndrome 1
GBenign
WFS1
(D367Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WFS1
(H323L)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
GUncertain risk allele
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
+1 more
GConflicting classifications of pathogenicity
WFS1
Insertion
(intron variant)
Wolfram syndrome 1
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
Wolfram syndrome 1
GBenign
WFS1
(L121I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WFS1
(E39*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GLikely pathogenic
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
GBenign
WFS1
(G53A)
Single nucleotide variant
(missense variant)
Wolfram-like syndrome
+1 more
GUncertain significance
WFS1
(W540C)
Single nucleotide variant
(missense variant)
Wolfram-like syndrome
+1 more
GUncertain significance
LOC129992166, WFS1
Single nucleotide variant
(5 prime UTR variant)
Wolfram syndrome 1
GBenign
WFS1
Single nucleotide variant
(5 prime UTR variant)
Wolfram syndrome 1
GBenign
WFS1
(W371*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GPathogenic
WFS1
Duplication
(inframe_insertion)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(W639*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(V498fs)
Insertion
(frameshift variant)
Wolfram syndrome 1
GLikely pathogenic
WFS1
(L664R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WFS1
(A406T)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
WFS1
(W648*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
GPathogenic
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Wolfram syndrome 1
+1 more
GBenign/Likely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
(A326T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
WFS1-related disorder
+6 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
Cataract 41
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
WFS1
(W478*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
WFS1
(P607A)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(A559V)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+1 more
GUncertain significance/Uncertain risk allele
WFS1
(H407R)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(S869N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(R653H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(A460T)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(A677S)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(A214V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
WFS1
(R772C)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+6 more
GUncertain significance
WFS1
(G437C)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(M851R)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
WFS1
(A761V)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
Deletion
(nonsense)
Wolfram syndrome 1
+5 more
GPathogenic/Likely pathogenic
WFS1
(V412fs)
Deletion
(frameshift variant)
Wolfram syndrome 1
+5 more
GPathogenic
WFS1
(W540*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
+5 more
GPathogenic/Likely pathogenic
WFS1
(Q520*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
+5 more
GPathogenic
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
WFS1
Deletion
(inframe_deletion)
Wolfram syndrome 1
+5 more
GPathogenic/Likely pathogenic
WFS1
(Y735*)
Single nucleotide variant
(nonsense)
Wolfram syndrome 1
+1 more
GPathogenic
WFS1
(V798I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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