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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS, CTNS-AS1
(H105fs)
Deletion
(frameshift variant +1 more)
Nephropathic cystinosis
+3 more
GPathogenic
CTNS
(Q205* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GPathogenic