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Links from MedGen

Items: 1 to 100 of 116

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF1
(D479fs +1 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(V165A +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(Q201H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(A448fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(I141M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(R408* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
(P263fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
(R382Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(P4L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(P245S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAAF1
(T231N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(D223N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(C50Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(A34T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(P22L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GBenign
DNAAF1
(A616V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(S347G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
DNAAF1-related condition
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1
(E333K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(F483L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(R121H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
(C665Y +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(R121C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+2 more
GBenign/Likely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
+2 more
GConflicting classifications of pathogenicity
DNAAF1
(T184S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(G396V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+2 more
GUncertain significance
DNAAF1
(L650I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(P399L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+2 more
GConflicting classifications of pathogenicity
DNAAF1
(G434fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 13
+2 more
GPathogenic/Likely pathogenic
DNAAF1
(A75T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
(N255K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
DNAAF1
(R86fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 13
+1 more
GPathogenic/Likely pathogenic
DNAAF1
(G434R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
(E345Q +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
(E402V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+3 more
GUncertain significance
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 13
GLikely benign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
DNAAF1
(T613N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(D555V +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GConflicting classifications of pathogenicity
DNAAF1
(E525K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+2 more
GConflicting classifications of pathogenicity
DNAAF1
(E332A +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(R281I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(L172V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(I104M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(K95N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAAF1
(Q61E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1, LOC130059566
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1, LOC130059566
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(V523I +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+3 more
GConflicting classifications of pathogenicity
DNAAF1
(D246N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAAF1
(H229Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+2 more
GBenign/Likely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
+2 more
GBenign
DNAAF1
(K101N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+2 more
GBenign/Likely benign
DNAAF1
(G703R +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAAF1
(D584N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+3 more
GBenign/Likely benign
DNAAF1
(L539P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+2 more
GBenign/Likely benign
DNAAF1
(P499L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 13
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
DNAAF1, TAF1C
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
DNAAF1-related condition
+2 more
GLikely benign
DNAAF1
(L207V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(P712A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(splice donor variant)
DNAAF1-related condition
+4 more
GConflicting classifications of pathogenicity
DNAAF1
(P499T +1 more)
Single nucleotide variant
(missense variant)
DNAAF1-related condition
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
DNAAF1
(P502L +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
DNAAF1
(D435N +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DNAAF1
(E432D +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+3 more
GBenign
DNAAF1
(K393R +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
DNAAF1
(D387E +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GBenign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+3 more
GBenign
DNAAF1
(D459E +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAAF1
(P452T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+4 more
GConflicting classifications of pathogenicity
DNAAF1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
DNAAF1
(N182K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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