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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ACOT13, ALDH5A1
+50 more
Copy number loss
See cases
GPathogenic
ACOT13, ALDH5A1
+64 more
Copy number loss
See cases
GUncertain significance
TDP2
(L358S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(S349G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TDP2
(G345D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(I318L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(R317Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(R317*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia, autosomal recessive 23
GPathogenic
TDP2
(I307V)
Single nucleotide variant
(missense variant)
not provided
GBenign
TDP2
(L287W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TDP2
(W284R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(I258T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(I258V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TDP2
(V244D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(A235V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(G217fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia, autosomal recessive 23
GPathogenic
TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TDP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TDP2
Deletion
(splice donor variant)
Cerebellar ataxia
GPathogenic
TDP2
Deletion
(splice donor variant)
Spinocerebellar ataxia, autosomal recessive 23
GLikely pathogenic
TDP2
(Q194fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
TDP2
(S187L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TDP2
(T172I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TDP2
(K163N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(S144N)
Single nucleotide variant
(missense variant)
TDP2-related disorder
GUncertain significance
TDP2
Single nucleotide variant
(splice donor variant)
Spinocerebellar ataxia, autosomal recessive 23
GPathogenic
TDP2
(S138*)
Indel
(nonsense)
Spinocerebellar ataxia, autosomal recessive 23
GPathogenic
TDP2
(V136L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(R134*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TDP2
(A133T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(E131fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
TDP2
(E131fs)
Duplication
(frameshift variant)
not provided
GPathogenic
TDP2
(S130*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TDP2
(L124F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(N89S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TDP2
(S79F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(E76K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(E72K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(A70V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
(Y61H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TDP2
(N59D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC113174982, TDP2
(N50H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC113174982, TDP2
(A33P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC113174982, TDP2
(A33S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive 23
GUncertain significance
LOC113174982, TDP2
(L28V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC113174982, TDP2
(C6F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC113174982, TDP2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC113174982, TDP2
(E2*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC113174982, TDP2
Single nucleotide variant
(5 prime UTR variant)
TDP2-related disorder
GLikely benign
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
TDP2, ACOT13
+5 more
Copy number gain
not provided
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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