"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CTNS"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558923	NM_004937.3(CTNS):c.-634C>T	CTNS	Single nucleotide variant	not provided	GBenign
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 558924	NM_004937.3(CTNS):c.329+22C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 288254	NM_004937.3(CTNS):c.462-7C>A	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GBenign/Likely benign
Select item 257153	NM_004937.3(CTNS):c.462T>C (p.Ser154=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +5 more	GBenign
Select item 889822	NM_004937.3(CTNS):c.481G>A (p.Asp161Asn)	CTNS, CTNS-AS1 (D161N +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +2 more	GUncertain significance
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 558925	NM_004937.3(CTNS):c.685G>T (p.Gly229Cys)	CTNS, CTNS-AS1 (G229C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1497879	NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)	CTNS, CTNS-AS1 (Q231K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 257157	NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)	CTNS (T260I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 558926	NM_004937.3(CTNS):c.853-28C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257158	NM_004937.3(CTNS):c.970+15G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GBenign
Select item 257152	NM_004937.3(CTNS):c.*300C>G	CTNS (P380A)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GBenign