C4316899[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 13

	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)	not provided +6 more	GPathogenic
Select item 21438	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Deletion (inframe_deletion +2 more)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 267306	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS, CTNS-AS1 (Q128*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 267307	NM_004937.3(CTNS):c.397A>T (p.Ile133Phe)	CTNS-AS1, CTNS (I133F)	Single nucleotide variant (missense variant +1 more)	Cystinosis	Gnot provided
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 21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS, CTNS-AS1 (L158P +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 267308	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	CTNS, CTNS-AS1 (W182R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 21442	NM_004937.3(CTNS):c.559_561+24del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Infantile nephropathic cystinosis +4 more	GPathogenic/Likely 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
Select item 188718	NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	CTNS, CTNS-AS1 (D205del +1 more)	Microsatellite (inframe_deletion)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 21440	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS, CTNS-AS1 (D205N +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic
Select item 267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS (G308R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic