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Links from MedGen

Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB4A
(G74R +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
(R318Q +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(V400M +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
LOC130063295, TUBB4A
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(R241C +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(A115T +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(V270M +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
(T327M +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
(K297R +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GPathogenic
TUBB4A
(G405R +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant +1 more)
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
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
LOC130063295, TUBB4A
(Q8H +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(G400S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant +1 more)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(M334L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(G4R)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(A229V +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
+1 more
GUncertain significance
TUBB4A
(G116S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(N175I +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Deletion
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Deletion
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Deletion
(inframe_deletion)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(A416T +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(R201C +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(E104K +2 more)
Single nucleotide variant
(missense variant +1 more)
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
Microsatellite
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(A489V +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 +1 more)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(C282S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(L174P +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GPathogenic
TUBB4A
(P233L +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(V244M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
LOC130063295, TUBB4A
Single nucleotide variant
(synonymous variant +2 more)
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
+1 more
GLikely benign
TUBB4A
(V224M +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(E170D +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(G269S +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
(V261A +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(E170Q +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
(N165D +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GLikely pathogenic
TUBB4A
(Y150D +3 more)
Single nucleotide variant
(missense variant)
Hypomyelinating leukodystrophy 6
GUncertain significance
TUBB4A
(P110S +3 more)
Single nucleotide variant
(missense variant)
Torsion dystonia 4
+1 more
GLikely pathogenic
TUBB4A
(R121Q +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
Single nucleotide variant
(synonymous variant +1 more)
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
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
Single nucleotide variant
(synonymous variant +1 more)
Hypomyelinating leukodystrophy 6
+1 more
GLikely benign
LOC130063295, TUBB4A
Single nucleotide variant
(intron 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
+1 more
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
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
LOC130063295, TUBB4A
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 6
GBenign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
TUBB4A
Deletion
(intron variant)
Hypomyelinating leukodystrophy 6
GLikely benign
LOC130063295, TUBB4A
Single nucleotide variant
(intron 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
Single nucleotide variant
(synonymous variant)
Hypomyelinating leukodystrophy 6
GLikely benign
LOC130063295, TUBB4A
Single nucleotide variant
(intron variant)
Hypomyelinating leukodystrophy 6
GBenign
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