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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ODAD1
Deletion
Primary ciliary dyskinesia 20
GUncertain significance
ODAD1
(E316fs +1 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 20
GLikely pathogenic
ODAD1
(R33*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 20
GLikely pathogenic
ODAD1
(Q120* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 20
+1 more
GPathogenic/Likely pathogenic
ODAD1
(T126M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ODAD1
(G632fs +1 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
ODAD1
(R113* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
ODAD1
(Q211* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 20
GPathogenic
ODAD1
(E294K +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 20
+1 more
GUncertain significance
ODAD1
(L409F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ODAD1
(H608Y +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 20
+1 more
GUncertain significance
ODAD1
(R363C +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 20
+1 more
GConflicting classifications of pathogenicity
ODAD1
(N302S +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD1
(D438N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
ODAD1
Insertion
(inframe_insertion)
Primary ciliary dyskinesia
+2 more
GUncertain significance
ODAD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ODAD1
(R25H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 20
+3 more
GBenign
ODAD1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 20
+3 more
GBenign
ODAD1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+3 more
GBenign
ODAD1
(A521T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ODAD1
(R46W +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ODAD1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 20
+3 more
GBenign/Likely benign
ODAD1
(S639N +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
ODAD1
(R52P +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ODAD1
(A509T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ODAD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ODAD1
(R368Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ODAD1
(H313fs +1 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 20
GPathogenic
ODAD1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ODAD1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ODAD1
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 20
+1 more
GPathogenic
ODAD1
(A248T +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 20
+2 more
GPathogenic
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