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Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(G459R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(A453T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(D449N +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
RSPH3
(K438fs +1 more)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(S433L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T381A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
(Q425R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GBenign
RSPH3
(G376D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GBenign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R415Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(E362D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(L361R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
(F360L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
RSPH3
Insertion
(inframe_indel +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(A350fs +1 more)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(G393C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(E388K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GBenign/Likely benign
RSPH3
(H377R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RSPH3
(H377P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
RSPH3
(Y329C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R365H +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GBenign
RSPH3
(R319C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(L317S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(L360F +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(M350T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T349fs +1 more)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(M297T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Deletion
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 32
GLikely pathogenic
RSPH3
(I330T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(R321fs +1 more)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
(R321T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(F271S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GBenign
RSPH3
(L267F +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(A310V +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R261C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R302Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GBenign/Likely benign
RSPH3
(A301T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(N293del +1 more)
Deletion
(inframe_deletion +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(H244Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R281H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(R281C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(R280Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
Deletion
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R275Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(R275* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 32
GPathogenic
RSPH3
(V218A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R215H +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
(N212K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(R257W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
(L210I +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(Y253C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(R251H +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RSPH3
(V237I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 32
GLikely benign
RSPH3
(I230M +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
(T229K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(T229I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RSPH3
(T183A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(K182N +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(E177D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(E177K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
(F214L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 32
+1 more
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 32
GUncertain significance
RSPH3
Single nucleotide variant
(synonymous variant +2 more)
Primary ciliary dyskinesia 32
GLikely benign
Display optionsSort by LocationDownload
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