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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IMPDH1
(S363P +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
GLikely pathogenic
IMPDH1
(G319D +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
+3 more
GConflicting classifications of pathogenicity
IMPDH1
(K204E +7 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 10
GUncertain significance
IMPDH1
(G197A +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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