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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CERKL
(R204C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CERKL
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CERKL
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 26
+2 more
GConflicting classifications of pathogenicity
CERKL
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CERKL
(R257* +2 more)
Single nucleotide variant
(nonsense +2 more)
Retinitis pigmentosa 26
+8 more
GPathogenic/Likely pathogenic
CERKL
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CERKL
(L122R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CERKL
(D81A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
+4 more
GBenign
CERKL
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CERKL
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CERKL
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
CERKL, LOC129935215
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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