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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DRC1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 21
+2 more
GBenign/Likely benign
DRC1
(Q37fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+2 more
GPathogenic/Likely pathogenic
DRC1
(Q118*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 21
+3 more
GConflicting classifications of pathogenicity
DRC1
(W141G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(T331I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
DRC1
(A356V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DRC1
(R375H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GLikely benign
DRC1
(R464H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DRC1
(A473V)
Single nucleotide variant
(missense variant)
DRC1-related disorder
+4 more
GConflicting classifications of pathogenicity
DRC1
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia
+1 more
GLikely pathogenic
DRC1
(K638T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
DRC1
(R694fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 21
+1 more
GUncertain significance
DRC1
Insertion
(intron variant)
Primary ciliary dyskinesia 21
+1 more
GBenign
DRC1
(T732fs)
Duplication
(frameshift variant)
not provided
+2 more
GUncertain significance
DRC1
Single nucleotide variant
(stop lost)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
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