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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB
Single nucleotide variant
not provided
GBenign
TUBB
Single nucleotide variant
not provided
GBenign
TUBB
(G17V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TUBB
Deletion
(intron variant)
not provided
GLikely benign
TUBB
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB
(Y51C +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
TUBB
(N72S +1 more)
Single nucleotide variant
(missense variant +3 more)
Complex cortical dysplasia with other brain malformations 6
+1 more
GLikely pathogenic
TUBB
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB
(K14R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TUBB
(Y15C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TUBB
(L24I +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
TUBB
Single nucleotide variant
(intron variant)
not specified
GBenign
TUBB
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB
(N100S +3 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 6
+1 more
GUncertain significance
TUBB
(E108K +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBB
(D118Y +3 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 6
+1 more
GConflicting classifications of pathogenicity
TUBB
(R121W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB
(R112* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TUBB
(R118C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB
(Y220C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TUBB
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
TUBB
(T221I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TUBB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TUBB
(L228V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TUBB
(C167S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TUBB
(L168F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB
(G205E +3 more)
Single nucleotide variant
(missense variant +1 more)
TUBB-related disorder
+1 more
GUncertain significance
TUBB
(P215S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TUBB
(P287L +3 more)
Single nucleotide variant
(missense variant +1 more)
Complex cortical dysplasia with other brain malformations 6
+3 more
GConflicting classifications of pathogenicity
TUBB
(M299V +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic
TUBB
(R234P +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
TUBB
(H235L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TUBB
(A243fs +3 more)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
TUBB
(A243V +3 more)
Indel
(missense variant +2 more)
not provided
GUncertain significance
TUBB
(M249L +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TUBB
(M251T +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
TUBB
(T184A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB
(T184I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB
(R188C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TUBB
(E401K +4 more)
Single nucleotide variant
(missense variant +1 more)
Multiple benign circumferential skin creases on limbs 1
+3 more
GPathogenic
TUBB
(E410D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TUBB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TUBB
(Y223* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
TUBB
(E232D +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TUBB
(G437S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TUBB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TUBB
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
TUBB
Duplication
(3 prime UTR variant +1 more)
not provided
GBenign
TUBB
Deletion
(3 prime UTR variant +1 more)
not provided
GBenign
TUBB
Insertion
(3 prime UTR variant +1 more)
not provided
GLikely benign
TUBB
(Q114L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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