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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SNRNP200
(R1090L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GPathogenic
SNRNP200
(S1087L)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
SNRNP200
(Q885E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 33
GPathogenic
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