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Items: 1 to 100 of 327

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
LOC130063249, LOC130063250
+124 more
Copy number gain
See cases
GPathogenic
ACER1, ACSBG2
+113 more
Copy number gain
See cases
GUncertain significance
TUBB4A
Single nucleotide variant
Dystonic disorder
+1 more
GLikely benign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+2 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+2 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Torsion dystonia 4
+1 more
GLikely benign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign
TUBB4A
Single nucleotide variant
(3 prime UTR variant)
Hypomyelinating leukodystrophy 6
+2 more
GBenign
TUBB4A
(A489V +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
+1 more
GConflicting classifications of pathogenicity
TUBB4A
Deletion
(inframe_deletion)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(A367V +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(A439E +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
+1 more
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
+2 more
GBenign/Likely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB4A
(A358D +3 more)
Single nucleotide variant
(missense variant)
Torsion dystonia 4
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TUBB4A
(Q354E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB4A
(N342Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
TUBB4A
(E410K +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TUBB4A
(M334L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(E450K +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(G400S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(T327M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(F445S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GLikely pathogenic
TUBB4A
(F445C +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
Gnot provided
TUBB4A
(A321V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB4A
(R391L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GConflicting classifications of pathogenicity
TUBB4A
(R442H +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GPathogenic/Likely pathogenic
TUBB4A
(M439I +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GPathogenic
TUBB4A
(M388I +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GPathogenic/Likely pathogenic
TUBB4A
(M439T +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GConflicting classifications of pathogenicity
TUBB4A
(M439V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB4A
(A315D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB4A
(F430L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(R308L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(F418L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(F418I +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
Gnot provided
TUBB4A
Single nucleotide variant
(synonymous variant)
Torsion dystonia 4
+2 more
GBenign/Likely benign
TUBB4A
(A416T +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
+1 more
GLikely benign
TUBB4A
(A415D +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
Gnot provided
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(G405R +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(D283E +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(C354W +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GLikely pathogenic
TUBB4A
(C405Y +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
Gnot provided
TUBB4A
(C282S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(A280del +3 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
TUBB4A
(A280V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB4A
(A397S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(A403T +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(T279M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(K278T +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB4A
(V400M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
+1 more
GBenign/Likely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(W344R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(V270M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(F269L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
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