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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO10
Deletion
Autosomal recessive spinocerebellar ataxia 10
GLikely pathogenic
ANO10
(W34*)
Single nucleotide variant
(nonsense)
Autosomal recessive spinocerebellar ataxia 10
GLikely pathogenic
ANO10
(K44E)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GLikely pathogenic
ANO10
(E242* +2 more)
Duplication
(intron variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GPathogenic/Likely pathogenic
ANO10
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GPathogenic
ANO10
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ANO10
(S607P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ANO10
(G73D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic/Likely pathogenic
ANO10
(I228M +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(L69*)
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
ANO10
(F226V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ANO10
(A328fs +3 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
ANO10
(S75T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ANO10
(K43E)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(M79R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ANO10
(Y308C +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(P482H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(R152H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+2 more
GBenign/Likely benign
ANO10
(M157V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(R168S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ANO10
Single nucleotide variant
(synonymous variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
+2 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
(R174W +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(P175L +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(M315T +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(R319C +3 more)
Single nucleotide variant
(missense variant)
ANO10-related disorder
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(W231* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
ANO10
(M462V +5 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ANO10
(N201D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO10
(C323R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GLikely pathogenic
ANO10
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ANO10
(F171S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ANO10
(E33fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ANO10
(Y102*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GBenign
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10, LOC129936579
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(Q25P)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ANO10
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
ANO10
(E95fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ANO10
(Y211C +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(A226T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANO10
(Y327C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ANO10
(D338N +2 more)
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
(R378Q +2 more)
Single nucleotide variant
(missense variant +1 more)
ANO10-related disorder
+3 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(M447L +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(synonymous variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GBenign/Likely benign
ANO10
(A520V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO10
(S532L +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(R543H +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ANO10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO10
(K606R +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
(M622V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GBenign
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
+1 more
GBenign/Likely benign
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GBenign
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GBenign
ANO10
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ANO10
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive spinocerebellar ataxia 10
GUncertain significance
ANO10
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ANO10
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ANO10
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
ANO10
(E382* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ANO10
(D615N +4 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive spinocerebellar ataxia 10
+2 more
GConflicting classifications of pathogenicity
ANO10
(D45fs)
Duplication
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic/Likely pathogenic
ANO10
(T561M +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ANO10
(R462Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ANO10
(S356G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ANO10
Deletion
(nonsense)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
ANO10
Single nucleotide variant
(splice donor variant)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
ANO10
(L318fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ANO10
(L510R +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 10
GPathogenic
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