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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP300
(K59*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 38
GLikely pathogenic
CFAP300
(R144*)
Single nucleotide variant
Ciliary dyskinesia, primary, 38
+1 more
GPathogenic/Likely pathogenic
CFAP300
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFAP300
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFAP300
(F67fs)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 38
GPathogenic
CFAP300
(F67fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CFAP300
(R145*)
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
CFAP300
(Q52*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 38
GPathogenic
CFAP300
(R121*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
CFAP300
(H259R +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 38
GPathogenic
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