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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC12
Deletion
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
(R560* +3 more)
Single nucleotide variant
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
(M567R +3 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
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