"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CTNS-AS1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786644	NM_004937.3(CTNS):c.327C>T (p.Thr109=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +3 more	GBenign/Likely benign
Select item 322837	NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)	CTNS, CTNS-AS1 (P111L)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 712938	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	CTNS-AS1, CTNS (A122T)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +4 more	GConflicting classifications of pathogenicity
Select item 761319	NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)	CTNS, CTNS-AS1 (I123S)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GLikely benign
Select item 322839	NM_004937.3(CTNS):c.407T>G (p.Val136Gly)	CTNS, CTNS-AS1 (V136G)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
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 551859	NM_004937.3(CTNS):c.425_427del (p.Phe142del)	CTNS, CTNS-AS1 (F142del)	Deletion (inframe_deletion +1 more)	Nephropathic cystinosis +2 more	GUncertain significance
Select item 889140	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	CTNS, CTNS-AS1 (R152W +1 more)	Single nucleotide variant (missense variant)	CTNS-related disorder +3 more	GUncertain significance
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 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 189067	NM_004937.3(CTNS):c.561+1del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1585480	NM_004937.3(CTNS):c.562-20T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 1652153	NM_004937.3(CTNS):c.562-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
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 990466	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	CTNS, CTNS-AS1 (A212T +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 371084	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS-AS1, CTNS (T216fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 891377	NM_004937.3(CTNS):c.661G>A (p.Val221Met)	CTNS, CTNS-AS1 (V221M +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS-AS1, CTNS	Single nucleotide variant (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic
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 1417838	NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	CTNS, CTNS-AS1 (R228C +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 740597	NM_004937.3(CTNS):c.684C>T (p.Arg228=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 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 551688	NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	CTNS, CTNS-AS1 (V233fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic

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Items: 24