"Institute of Human Genetics, Cologne University"[submitter] AND "CTNS - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518423	NM_004937.3(CTNS):c.462-27_462-3del	CTNS, CTNS-AS1	Deletion (intron variant)	Nephropathic cystinosis	GUncertain significance
Select item 599228	NM_004937.3(CTNS):c.768dup (p.Val257fs)	CTNS (V257fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 834054	NM_004937.3(CTNS):c.886G>A (p.Gly296Ser)	CTNS (G149S +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis	GUncertain significance

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