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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS-AS1, CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+5 more
GBenign
CTNS
(T260I +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
CTNS
(Y290* +1 more)
Single nucleotide variant
(nonsense)
Cystinosis
+1 more
GPathogenic/Likely pathogenic
CTNS
(G339R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
CTNS
(P380A)
Single nucleotide variant
(missense variant +1 more)
Ocular cystinosis
+3 more
GBenign
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