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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYGB, PRCD
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 36
GBenign
CYGB, PRCD
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 36
GPathogenic
CYGB, PRCD
(M1T)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+1 more
GPathogenic/Likely pathogenic
CYGB, PRCD
(R22*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+1 more
GPathogenic
CYGB, PRCD
(C2Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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