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Links from MedGen

Items: 1 to 100 of 418

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WFS1
(N682S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 6
GUncertain significance
WFS1
(F515fs)
Insertion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 6
GLikely pathogenic
WFS1
(V546I)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 6
GUncertain significance
WFS1
(E85D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 6
GUncertain significance
WFS1
(A406T)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
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)
not provided
+5 more
GLikely benign
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+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
+5 more
GLikely 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)
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
(P607A)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
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
(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
Deletion
(inframe_deletion)
Wolfram syndrome 1
+5 more
GPathogenic/Likely pathogenic
WFS1
(V798I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V644M)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(M229T)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
WFS1
(P52S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(V709M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(G562S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(G494S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V219A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(A738T)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(R772H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(R517H)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V491M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(T628M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
WFS1
(R517C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(S38N)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(A102T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(A275G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V415I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(P7S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(T455M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(G205S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(L549M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(P404L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(G213E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V415L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(D866Y)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(L132R)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(T440I)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(E550A)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(A198V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(V493A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
WFS1
(H766Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance/Uncertain risk allele
WFS1
(K843M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WFS1
(H860Q)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(V176A)
Single nucleotide variant
(missense variant)
Wolfram syndrome 1
+5 more
GUncertain significance
WFS1
(T595I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(R456C)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+6 more
GUncertain significance
WFS1
(I359N)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(G76S)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(L327F)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(N208S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
WFS1
(R26Q)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(K482Q)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(P764A)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(D367G)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+5 more
GUncertain significance
WFS1
(F516del)
Microsatellite
(inframe_deletion)
Cataract 41
+5 more
GPathogenic/Likely pathogenic
WFS1
Single nucleotide variant
(synonymous variant)
Cataract 41
+5 more
GLikely benign
WFS1
(R703H)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
WFS1
(G115S)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
WFS1
(W129*)
Single nucleotide variant
(nonsense)
Cataract 41
+4 more
GPathogenic/Likely pathogenic
WFS1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
WFS1
(Y650C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
WFS1
(V498I)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
WFS1
(V582M)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
WFS1
(R868C)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
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
(E751K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
WFS1
(A422T)
Single nucleotide variant
(missense variant)
Cataract 41
+5 more
GUncertain significance
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