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Items: 1 to 100 of 506

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive cerebellar ataxia
+4 more
GBenign
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+4 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Microsatellite
(5 prime UTR variant +2 more)
Mitochondrial DNA depletion syndrome
+4 more
GLikely benign
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile onset spinocerebellar ataxia
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+3 more
GConflicting classifications of pathogenicity
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+4 more
GLikely benign
TWNK
Single nucleotide variant
(5 prime UTR variant +2 more)
Mitochondrial DNA depletion syndrome
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(R6*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
TWNK
(S7I)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(P10H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
TWNK
(L17fs)
Deletion
(frameshift variant +2 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(P16L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(L17Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R18H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
TWNK
(G19E)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
TWNK
(G23fs)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
TWNK
(G23A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R25fs)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(G26S)
Single nucleotide variant
(missense variant +2 more)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
+4 more
GConflicting classifications of pathogenicity
TWNK
(G26V)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
TWNK
(R29*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(P36L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R39C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R39H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R41K)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R41T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(A47T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(A57T)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
TWNK
(R61C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R65W)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(H67fs)
Duplication
(frameshift variant +2 more)
not provided
GLikely pathogenic
TWNK
(G66R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GLikely benign
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(P70S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(P70L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TWNK
(H75Y)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(A80T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(L81V)
Single nucleotide variant
(missense variant +2 more)
Autosomal recessive cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
TWNK
(P83S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(P83L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(A85fs)
Duplication
(frameshift variant +2 more)
TWNK-related disorder
GLikely pathogenic
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(Q89H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(G92S)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome
+3 more
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
+3 more
GUncertain significance
TWNK
(G95A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(V96I)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia
GUncertain significance
TWNK
(T97S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(F100C)
Single nucleotide variant
(missense variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
GUncertain significance
TWNK
Single nucleotide variant
(intron variant +2 more)
not specified
GLikely benign
TWNK
(L112fs)
Deletion
(frameshift variant +2 more)
Infantile onset spinocerebellar ataxia
GPathogenic
TWNK
(C113S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(M114L)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
TWNK
(M114R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(A118T)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(S121N)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
TWNK
(V129M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(E130Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(G131E)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
TWNK
(R132Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(G135E)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(E138A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(G139V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(S143N)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
TWNK
(A145V)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TWNK
(E147fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TWNK
(E152Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(I157F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
(R160*)
Single nucleotide variant
(intron variant +2 more)
Hereditary spastic paraplegia
GUncertain significance
TWNK
(I162V)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
TWNK
(P163S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TWNK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TWNK
(E172A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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