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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBA1A
(V33A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(Q141L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(N18Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(R186G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(V146I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(E255D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(M278V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(E388G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(E148K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(E262K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(T257I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
Deletion
(inframe_deletion)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
Deletion
(inframe_indel)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(I219M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TUBA1A
(D11V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(A238D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(M168I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(A145V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(G113R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(S252T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBA1A
(R121Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(G109V +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
Deletion
(inframe_deletion)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
Deletion
(5 prime UTR variant +1 more)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(V235L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(C129R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(E386K +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(R338G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(L192Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(R44H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(V327L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
Indel
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(V147A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
(I199S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GPathogenic
TUBA1A
(I16T)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(G350V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(K359N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(R285C +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(N214S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(C165R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(A386T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(C25Y)
Single nucleotide variant
(missense variant +1 more)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(T73A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(K60N +1 more)
Single nucleotide variant
(missense variant)
Corpus callosum, agenesis of
+3 more
GLikely pathogenic
TUBA1A
(N101S +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(T56M +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
TUBA1A
(P173L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TUBA1A
(T150I +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(V9A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
TUBA1A
(E411G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(G321D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(G416D +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(I384N +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
Gnot provided
TUBA1A
(H107Q +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GLikely pathogenic
TUBA1A
(R320H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(R390H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic
TUBA1A
(P307L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(R123H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(T382A +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(V435A +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(H28Y)
Single nucleotide variant
(missense variant +1 more)
Tubulinopathy
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(R390P +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(N18S)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TUBA1A
(R390C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(D218N +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy-associated dysgyria
+4 more
GConflicting classifications of pathogenicity
TUBA1A
(R214H +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(R264H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TUBA1A
(R123C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(V118M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(V324L +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GLikely pathogenic
TUBA1A
(E90G +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+1 more
GLikely pathogenic
TUBA1A
(A369T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(Y408* +1 more)
Single nucleotide variant
(nonsense)
Lissencephaly due to TUBA1A mutation
+1 more
GConflicting classifications of pathogenicity
TUBA1A
(V409A +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
+2 more
GPathogenic/Likely pathogenic
TUBA1A
(I332T +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(A331T +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(N329S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic
TUBA1A
(A270S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(T253R +1 more)
Single nucleotide variant
(missense variant)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(Q233R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(R2H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
TUBA1A
Duplication
(inframe_insertion)
Lissencephaly due to TUBA1A mutation
GUncertain significance
TUBA1A
(A174V +1 more)
Single nucleotide variant
(missense variant)
Early myoclonic encephalopathy
+5 more
GConflicting classifications of pathogenicity
TUBA1A
(Y161D +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
Single nucleotide variant
(synonymous variant)
Lissencephaly due to TUBA1A mutation
+3 more
GBenign
TUBA1A
Single nucleotide variant
(intron variant)
Lissencephaly due to TUBA1A mutation
+2 more
GConflicting classifications of pathogenicity
TUBA1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TUBA1A
(S54R +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(T51I +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(M425K +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(R402L +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic
TUBA1A
(R402C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic/Likely pathogenic
TUBA1A
(R402S +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
TUBA1A
(A383V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GPathogenic/Likely pathogenic
TUBA1A
(M377V +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+1 more
GLikely pathogenic
AIPL1
(V96I +4 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
+4 more
GBenign/Likely benign
NKX2-5
Single nucleotide variant
(3 prime UTR variant +1 more)
Atrial septal defect 7
+4 more
GBenign/Likely benign
TUBA1A
(I5L)
Single nucleotide variant
(missense variant +1 more)
Tubulinopathy
GLikely pathogenic
TUBA1A
(R422H +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+2 more
GPathogenic
TUBA1A
(R422C +1 more)
Single nucleotide variant
(missense variant)
Tubulinopathy
+3 more
GPathogenic
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