"GeneDx"[submitter] AND "CTNS"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 151502	GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1	CTNS, CTNS-AS1 +5 more	Copy number loss	See cases	GBenign
Select item 1263504	NC_000017.11:g.3636287G>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 1259595	NC_000017.11:g.3636333A>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	Inborn genetic diseases +3 more	GBenign
Select item 558923	NM_004937.3(CTNS):c.-634C>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 322815	NM_004937.2(CTNS):c.-520T>C	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 322818	NM_004937.2(CTNS):c.-458C>T	LOC130059980, CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +2 more	GBenign
Select item 322822	NM_004937.2(CTNS):c.-313G>A	CTNS, LOC130059980	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GBenign
Select item 1277327	NM_004937.3(CTNS):c.-19-211A>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269524	NM_004937.3(CTNS):c.62-224C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322836	NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	CTNS (S39L)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2068473	NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)	CTNS (N41T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 4447	NM_004937.3(CTNS):c.124G>A (p.Val42Ile)	CTNS (V42I)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +5 more	GBenign/Likely benign
Select item 1184632	NM_004937.3(CTNS):c.141-103G>A	CTNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1272215	NM_004937.3(CTNS):c.225+147G>C	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262245	NM_004937.3(CTNS):c.226-301dup	CTNS, CTNS-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1196573	NM_004937.3(CTNS):c.226-194G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707136	NM_004937.3(CTNS):c.226-11C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely 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 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 651886	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	CTNS, CTNS-AS1 (S141F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 2502614	NM_004937.3(CTNS):c.443T>C (p.Met148Thr)	CTNS, CTNS-AS1 (M148T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1184686	NM_004937.3(CTNS):c.461+49A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 683626	NM_004937.3(CTNS):c.461+52G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 672024	NM_004937.3(CTNS):c.461+54G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1227016	NM_004937.3(CTNS):c.461+317C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 449354	NM_004937.3(CTNS):c.516dup (p.Tyr173fs)	CTNS, CTNS-AS1 (Y173fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 2576715	NM_004937.3(CTNS):c.665A>G (p.Gln222Arg)	CTNS, CTNS-AS1 (Q222R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 672025	NM_004937.3(CTNS):c.681+274G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219867	NM_004937.3(CTNS):c.681+293_681+299del	CTNS, CTNS-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186893	NM_004937.3(CTNS):c.682-98G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194195	NM_004937.3(CTNS):c.682-66C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 664004	NM_004937.3(CTNS):c.682-1G>T	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
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 1255176	NM_004937.3(CTNS):c.852+228G>A	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244509	NM_004937.3(CTNS):c.852+242C>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290036	NM_004937.3(CTNS):c.852+243A>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267639	NM_004937.3(CTNS):c.852+259C>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204720	NM_004937.3(CTNS):c.852+275C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281365	NM_004937.3(CTNS):c.852+281T>C	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208692	NM_004937.3(CTNS):c.853-236G>A	CTNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558926	NM_004937.3(CTNS):c.853-28C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 422148	NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)	CTNS (Q315R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 257158	NM_004937.3(CTNS):c.970+15G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GBenign
Select item 1174169	NM_004937.3(CTNS):c.970+45C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184687	NM_004937.3(CTNS):c.970+70C>T	CTNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1212047	NM_004937.3(CTNS):c.971-114G>A	CTNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257152	NM_004937.3(CTNS):c.*300C>G	CTNS (P380A)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GBenign
Select item 322852	NM_004937.3(CTNS):c.*405G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 322853	NM_004937.3(CTNS):c.*410A>G	CTNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322854	NM_004937.3(CTNS):c.*421T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 322856	NM_004937.3(CTNS):c.*527G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322857	NM_004937.3(CTNS):c.*555T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 322858	NM_004937.3(CTNS):c.*572A>G	CTNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322860	NM_004937.3(CTNS):c.*627T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 322861	NM_004937.3(CTNS):c.*631T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Nephropathic cystinosis +2 more	GBenign
Select item 253683	GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3	ASPA, CTNS +8 more	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64