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Items: 1 to 100 of 806

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132090428, LOC132090429
+1 more
Duplication
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
Duplication
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
LOC132090428, LOC110120570
+12 more
Duplication
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
Duplication
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+4 more
GBenign
WWOX
(M1L)
Single nucleotide variant
(5 prime UTR variant +3 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GPathogenic
WWOX
(M1T)
Single nucleotide variant
(5 prime UTR variant +3 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GPathogenic
WWOX
(A3S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
(A3T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
(A3V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
WWOX
(L4V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(A7T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(D10H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(D11V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
(T12R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GConflicting classifications of pathogenicity
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(E15D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(D16fs)
Deletion
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GPathogenic
WWOX
(E17K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+2 more
GConflicting classifications of pathogenicity
WWOX
(E17D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
(L18V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(L18M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(P20R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(P20L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+5 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+3 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(W22C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
(T27del)
Microsatellite
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
(K28E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
(K28Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+3 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
(V32I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(Y34C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
WWOX
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(N36D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
WWOX
(N36I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Indel
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GPathogenic
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
WWOX
Deletion
(intron variant +1 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GBenign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(non-coding transcript variant +1 more)
Developmental and epileptic encephalopathy, 1
+3 more
GBenign/Likely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Duplication
(intron variant)
not provided
+3 more
GBenign/Likely benign
WWOX
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 28
+3 more
GBenign
WWOX
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Duplication
(intron variant)
Developmental and epileptic encephalopathy, 1
+3 more
GBenign/Likely benign
WWOX
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 1
+3 more
GBenign
WWOX
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
WWOX
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(T38fs)
Duplication
(frameshift variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GPathogenic
WWOX
(H37D)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+2 more
GLikely benign
WWOX
(E40del)
Microsatellite
(inframe_deletion +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(synonymous variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(Q43*)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GPathogenic
WWOX
(Q43R)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
(W44*)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic
WWOX
Single nucleotide variant
(synonymous variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(T49S)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
(K51R)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
Single nucleotide variant
(synonymous variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
(R54*)
Single nucleotide variant
(nonsense +2 more)
Developmental and epileptic encephalopathy, 28
+2 more
GPathogenic
WWOX
(V55A)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GUncertain significance
WWOX
(V55G)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(synonymous variant +2 more)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
(A56V)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 1
+1 more
GUncertain significance
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
WWOX
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 12
+1 more
GLikely benign
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