C2931013[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 15

	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 4454	NC_000017.11:g.3636418_3636419insT	CTNS	Insertion	Ocular cystinosis	GPathogenic
Select item 4453	NC_000017.11:g.3636418G>T	CTNS	Single nucleotide variant	Ocular cystinosis	GPathogenic
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	Ocular cystinosis +3 more	GBenign
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 4447	NM_004937.3(CTNS):c.124G>A (p.Val42Ile)	CTNS (V42I)	Single nucleotide variant (missense variant +2 more)	CTNS-related condition +6 more	GBenign/Likely benign
Select item 455787	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +4 more	GPathogenic
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 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)	Ocular cystinosis +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)	Juvenile nephropathic 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)	Cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 4449	NM_004937.3(CTNS):c.853-3C>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis	GPathogenic
Select item 4456	NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	CTNS (N323K +1 more)	Single nucleotide variant (missense variant)	Juvenile nephropathic cystinosis +3 more	GPathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	Cystinosis +6 more	GPathogenic