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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP298, CFAP298-TCP10L
(Q126* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
CFAP298, CFAP298-TCP10L
(H54Y)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 26
GUncertain significance
CFAP298, CFAP298-TCP10L
(Q142* +1 more)
Single nucleotide variant
(nonsense +2 more)
Primary ciliary dyskinesia 26
GPathogenic
CFAP298-TCP10L, CFAP298
(Q91fs +1 more)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 26
+1 more
GPathogenic
CFAP298-TCP10L, CFAP298
(Y245* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
CFAP298, CFAP298-TCP10L
Deletion
(nonsense +2 more)
Primary ciliary dyskinesia 26
GPathogenic
CFAP298-TCP10L, CFAP298
(R98*)
Single nucleotide variant
(nonsense +2 more)
Primary ciliary dyskinesia 26
+1 more
GPathogenic/Likely pathogenic
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