"Eurofins Ntd Llc (ga)"[submitter] AND "CTNS-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290319	NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)	CTNS, CTNS-AS1 (R119C)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 198524	NM_004937.3(CTNS):c.356G>A (p.Arg119His)	CTNS, CTNS-AS1 (R119H)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +4 more	GBenign
Select item 4443	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS, CTNS-AS1 (W138*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis +4 more	GPathogenic
Select item 288254	NM_004937.3(CTNS):c.462-7C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +5 more	GBenign
Select item 257156	NM_004937.3(CTNS):c.561+4C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 199101	NM_004937.3(CTNS):c.612C>T (p.Asn204=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity

ClinVar