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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF3, DNAAF3-AS1
(G232S +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+1 more
GLikely benign
DNAAF3, DNAAF3-AS1
(V126fs +3 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 2
GLikely pathogenic
DNAAF3, DNAAF3-AS1
(Q26* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 2
GPathogenic
DNAAF3, DNAAF3-AS1
(G384* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
GUncertain significance
DNAAF3, DNAAF3-AS1
(D359N +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+1 more
GLikely benign
DNAAF3, DNAAF3-AS1
(G305A +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+2 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(A230D +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
Duplication
(nonsense)
Primary ciliary dyskinesia 2
+1 more
GPathogenic/Likely pathogenic
DNAAF3, DNAAF3-AS1
(S8*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
GLikely pathogenic
DNAAF3, DNAAF3-AS1
(Q247* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAAF3, DNAAF3-AS1
(R204C +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(L207P +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF3
(A596fs +3 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 2
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
(W185* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
+1 more
GPathogenic
DNAAF3-AS1, DNAAF3
(F372fs +3 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAAF3
Single nucleotide variant
(stop lost)
Primary ciliary dyskinesia 2
+2 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
Deletion
(splice donor variant)
Primary ciliary dyskinesia 2
+2 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
+1 more
(T398I +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 2
+2 more
GBenign/Likely benign
DNAAF3-AS1, DNAAF3
(W44L)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia
+1 more
GBenign
DNAAF3, DNAAF3-AS1
+1 more
(D380fs +3 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 2
+1 more
GPathogenic
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(no sequence alteration)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+5 more
GBenign/Likely benign
DNAAF3, TNNI3
(V516M +3 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Recessive
+5 more
GBenign/Likely benign
DNAAF3-AS1, DNAAF3
(T365M +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF3
(P577L +3 more)
Single nucleotide variant
(missense variant)
DNAAF3-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 2
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
+1 more
(E339G +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
DNAAF3-related disorder
+2 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
(V255fs +3 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 2
GPathogenic
DNAAF3, DNAAF3-AS1
(R136* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
DNAAF3, DNAAF3-AS1
(L108P +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 2
GPathogenic
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