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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF4, DNAAF4-CCPG1
Deletion
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
GPathogenic
DNAAF4, DNAAF4-CCPG1
(W262fs)
Deletion
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
GPathogenic
DNAAF4, DNAAF4-CCPG1
(S20C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
GUncertain significance
DNAAF4, DNAAF4-CCPG1
(R330W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAAF4, DNAAF4-CCPG1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF4, DNAAF4-CCPG1
(Y197fs)
Deletion
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
+1 more
GPathogenic
DNAAF4, DNAAF4-CCPG1
(M82I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
+2 more
GUncertain significance
DNAAF4-CCPG1, DNAAF4
Deletion
(non-coding transcript variant +1 more)
Dyslexia, susceptibility to, 1
+1 more
GLikely pathogenic
DNAAF4-CCPG1, DNAAF4
(P2S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
DNAAF4, DNAAF4-CCPG1
Deletion
(non-coding transcript variant +1 more)
Dyslexia, susceptibility to, 1
+2 more
GPathogenic
DNAAF4, DNAAF4-CCPG1
(I175fs)
Deletion
(non-coding transcript variant +1 more)
Dyslexia, susceptibility to, 1
+3 more
GPathogenic/Likely pathogenic
DNAAF4, DNAAF4-CCPG1
(I175fs)
Duplication
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 25
+2 more
GPathogenic/Likely pathogenic
DNAAF4, DNAAF4-CCPG1
(Q414P)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
DNAAF4-CCPG1, DNAAF4
(E191G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
DNAAF4, DNAAF4-CCPG1
(E109*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
DNAAF4, DNAAF4-CCPG1
(R270*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
DNAAF4, DNAAF4-CCPG1
(E417*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Primary ciliary dyskinesia 25
+2 more
GBenign
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