"GeneDx"[submitter] AND "CTNS-AS1"[gene] - ClinVar

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

Search results

Items: 25

	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 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

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: 25