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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB
(Q15H)
Single nucleotide variant
(missense variant +2 more)
Multiple benign circumferential skin creases on limbs 1
GLikely pathogenic
TUBB
(R121W +3 more)
Single nucleotide variant
(missense variant)
Multiple benign circumferential skin creases on limbs 1
+1 more
GConflicting classifications of pathogenicity
TUBB
(Y106D +3 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 6
+1 more
GLikely pathogenic
TUBB
(A54V +1 more)
Single nucleotide variant
(missense variant +3 more)
Complex cortical dysplasia with other brain malformations 6
+1 more
GUncertain significance
TUBB
(G102R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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
(Y222F +3 more)
Single nucleotide variant
(missense variant +1 more)
Multiple benign circumferential skin creases on limbs 1
GPathogenic
TUBB
(Q15K)
Single nucleotide variant
(missense variant +2 more)
Multiple benign circumferential skin creases on limbs 1
GPathogenic
TUBB
(E401K +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
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