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Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNX14
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SNX14
Microsatellite
(3 prime UTR variant +1 more)
not provided
GLikely benign
SNX14
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SNX14
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Deletion
(nonsense +2 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GConflicting classifications of pathogenicity
SNX14
Single nucleotide variant
(splice acceptor variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
GLikely pathogenic
SNX14
Microsatellite
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
(Q515E +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNX14
(E793A +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(G837S +18 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic
SNX14
(D491G +18 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
Duplication
(intron variant)
not provided
GBenign
SNX14
Deletion
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
(M529I +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(M731T +18 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(K488E +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(Q866* +18 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spinocerebellar ataxia 20
GPathogenic
SNX14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNX14
(D503A +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
SNX14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign/Likely benign
SNX14
(R458H +16 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SNX14
(R458C +16 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SNX14
(H448Y +16 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
SNX14
(E442* +16 more)
Single nucleotide variant
(nonsense +2 more)
Autosomal recessive spinocerebellar ataxia 20
GLikely pathogenic
SNX14
(E788Q +16 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNX14
(R816Q +16 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 20
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNX14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNX14
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SNX14
(V410I +16 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GConflicting classifications of pathogenicity
SNX14
(R651W +16 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNX14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNX14
(T378A +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(D366E +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
Deletion
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
(K656R +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(N360del +16 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
SNX14
(N360S +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(L644V +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(N720S +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(M341V +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(P329R +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
Deletion
(intron variant)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SNX14
Single nucleotide variant
(splice donor variant)
Autosomal recessive spinocerebellar ataxia 20
GPathogenic
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Deletion
(intron variant)
not provided
GUncertain significance
SNX14
(D603N +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SNX14
Duplication
(intron variant)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GBenign/Likely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Deletion
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
(P499S +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(I548V +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(P538S +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SNX14
(A485V +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
(A485L +16 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(splice donor variant)
Autosomal recessive spinocerebellar ataxia 20
GPathogenic
SNX14
(K232fs +16 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
GPathogenic
SNX14
(W217S +16 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +1 more)
SNX14-related disorder
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GBenign
SNX14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SNX14
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SNX14
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spinocerebellar ataxia 20
+1 more
GUncertain significance
SNX14
(R454K +16 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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