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Items: 1 to 100 of 1512

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGR
Insertion
not provided
Gnot provided
RPGR
Deletion
not provided
Gnot provided
RPGR
Deletion
Retinitis pigmentosa
GPathogenic
RPGR
Deletion
not provided
Gnot provided
RPGR
Copy number loss
Retinitis pigmentosa 3
GPathogenic
RPGR
Duplication
not provided
Gnot provided
RPGR
Duplication
(3 prime UTR variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
RPGR
Single nucleotide variant
(3 prime UTR variant +1 more)
RPGR-related disorder
GLikely benign
RPGR
Duplication
(3 prime UTR variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
RPGR
Deletion
(3 prime UTR variant +1 more)
not provided
Gnot provided
RPGR
Deletion
(3 prime UTR variant +1 more)
not provided
Gnot provided
RPGR
Deletion
(3 prime UTR variant +1 more)
not provided
Gnot provided
RPGR
Deletion
(3 prime UTR variant +1 more)
not provided
GBenign
RPGR
Deletion
(stop lost +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Deletion
(nonsense +1 more)
Retinitis pigmentosa
GPathogenic
RPGR
(P690fs +6 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GPathogenic
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(Q683R +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(K613fs +6 more)
Deletion
(frameshift variant +1 more)
not provided
Gnot provided
RPGR
(D616V +6 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
RPGR
(D789N +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GBenign/Likely benign
RPGR
(K675fs +6 more)
Deletion
(frameshift variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(N673D +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(I607S +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(I668T +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(I667M +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(I667T +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(Q778K +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(I664T +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GBenign/Likely benign
RPGR
(I775V +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
RPGR
(E598fs +6 more)
Deletion
(frameshift variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
RPGR
(P667L +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
RPGR
(P768T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(N665S +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(S756L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
RPGR
(R642fs +6 more)
Deletion
(frameshift variant +1 more)
Retinitis pigmentosa
GLikely pathogenic
RPGR
(V754F +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(R753S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
RPGR
(F576S +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(I686V +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
Duplication
(intron variant)
Primary ciliary dyskinesia
GBenign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(intron variant)
not provided
GBenign
RPGR
Deletion
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Indel
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
RPGR
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(M742I +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
RPGR
(M569V +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(T563A +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(M546R +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(Y545H +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
not provided
GBenign
RPGR
Single nucleotide variant
(intron variant)
not provided
GBenign
RPGR
Single nucleotide variant
(intron variant)
not provided
GBenign
RPGR
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
RPGR
(K716E +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
RPGR
(N539S +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(A706V +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(R644Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(R533W +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(A589V +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(A528T +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
Microsatellite
(intron variant)
not provided
GBenign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
RPGR
(E523G +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(T694S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(A519P +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RPGR
(S629L +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
RPGR
(D516V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPGR
(T513I +6 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
Gnot provided
RPGR
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
RPGR
(G564S +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
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