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Items: 1 to 100 of 251

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130066945, TUBA8
Deletion
(splice donor variant +2 more)
not provided
GUncertain significance
LOC130066945, TUBA8
Single nucleotide variant
(splice donor variant +1 more)
not provided
GUncertain significance
LOC130066945, TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130066945, TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TUBA8
Deletion
(intron variant)
not provided
GBenign
TUBA8
(R2W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(R2Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Polymicrogyria with optic nerve hypoplasia
+1 more
GUncertain significance
TUBA8
(V9L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(A19S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(A19V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(E22K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(L23V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(F24L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(I30N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(Q31*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(F36S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(F36L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(I43T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(N44K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(F53S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(E55K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(T56S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
TUBA8
(G59R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
(R64fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(R64W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(V66I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
TUBA8
(M1L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBA8
(I68L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(I68V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(V8L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
TUBA8
Deletion
(splice acceptor variant)
not provided
GUncertain significance
TUBA8
(V12F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(R13W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TUBA8
(R84C +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
TUBA8
(R84H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(H88Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TUBA8
(I27M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(T28A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(R39Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(Y108C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA8
(T43M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(D116V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(L53M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(R121C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBA8
(R121H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(R123W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(R57Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Deletion
(intron variant)
not provided
GUncertain significance
TUBA8
Deletion
(intron variant)
not provided
GBenign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA8
(T126I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(A128V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
TUBA8
(L132P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(H139fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
TUBA8
(G143W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(R156C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(R156H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(G96S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
(Y119F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA8
(Y119C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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