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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGR
(S756L +6 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
RPGR
(T570M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RPGR
(G566E +2 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+3 more
GBenign/Likely benign
RPGR
(T533M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
RPGR
(Q527del +2 more)
Microsatellite
(non-coding transcript variant +2 more)
not specified
+2 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
RPGR
(Q463* +3 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RPGR
(Q456R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
RPGR
(C450R +3 more)
Single nucleotide variant
(missense variant +1 more)
X-linked cone-rod dystrophy 1
+3 more
GConflicting classifications of pathogenicity
RPGR
(R425K +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+3 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RPGR
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GBenign
RPGR
(D382V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RPGR
(C356R +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RPGR
(G269E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
RPGR
(A262G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
RPGR
(G225fs +2 more)
Indel
(frameshift variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
RPGR
(E169* +2 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
RPGR
(F162fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
RPGR
(I75V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
RPGR
(G52R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
RPGR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
RPGR
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
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