"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CTNS"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +7 more	GPathogenic
Select item 322835	NM_004937.3(CTNS):c.108C>T (p.Asn36=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +5 more	GBenign/Likely benign
Select item 322836	NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	CTNS (S39L)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 322840	NM_004937.3(CTNS):c.444G>A (p.Met148Ile)	CTNS, CTNS-AS1 (M148I +1 more)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +4 more	GConflicting classifications of pathogenicity
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 322844	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	CTNS (D324N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

ClinVar