"OMIM"[submitter] AND "CTNS-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4445	NC_000017.11:g.3600934_3658165del	CTNS, CTNS-AS1 +6 more	Deletion	Nephropathic cystinosis	GPathogenic
Select item 4441	NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)	CTNS-AS1, CTNS (G95*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis	GPathogenic
Select item 4457	NM_004937.3(CTNS):c.329G>T (p.Gly110Val)	CTNS, CTNS-AS1 (G110V)	Single nucleotide variant (missense variant +1 more)	Cystinosis, atypical nephropathic	GPathogenic
Select item 4443	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS, CTNS-AS1 (W138*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 4458	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS, CTNS-AS1 (S139F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1158693	NM_004937.3(CTNS):c.462-10C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 4446	NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	CTNS, CTNS-AS1 (G169D +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 4451	NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	CTNS, CTNS-AS1 (G197R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic/Likely pathogenic

ClinVar