U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CERKL
(R461* +4 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 26
+3 more
GPathogenic/Likely pathogenic
CERKL
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CERKL
(R345Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CERKL
(R204C +4 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 26
+1 more
GUncertain significance
CERKL
(R257* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinal dystrophy
+7 more
GPathogenic/Likely pathogenic
CERKL
(C125W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CERKL
(R106C)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CERKL
(R105Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination