"Natera, Inc."[submitter] AND "CTNS"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990025	NM_004937.3(CTNS):c.-645C>T	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
Select item 990026	NM_004937.3(CTNS):c.-643G>A	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
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 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	not provided +6 more	GPathogenic
Select item 322834	NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	CTNS (V32I)	Single nucleotide variant (missense variant +2 more)	Cystinosis +5 more	GConflicting classifications of pathogenicity
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 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 764463	NM_004937.3(CTNS):c.117G>A (p.Ser39=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 990027	NM_004937.3(CTNS):c.123C>T (p.Asn41=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
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 952419	NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)	CTNS (R47W)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 990028	NM_004937.3(CTNS):c.140+3A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GUncertain significance
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 786643	NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)	CTNS (D74N)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 990029	NM_004937.3(CTNS):c.226G>A (p.Val76Ile)	CTNS-AS1, CTNS (V76I)	Single nucleotide variant (missense variant +1 more)	Cystinosis	GUncertain significance
Select item 990030	NM_004937.3(CTNS):c.270A>T (p.Thr90=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +2 more	GLikely benign
Select item 714823	NM_004937.3(CTNS):c.285A>T (p.Gly95=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
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 761840	NM_004937.3(CTNS):c.341G>A (p.Arg114His)	CTNS, CTNS-AS1 (R114H)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GLikely benign
Select item 198524	NM_004937.3(CTNS):c.356G>A (p.Arg119His)	CTNS, CTNS-AS1 (R119H)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +4 more	GBenign
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 990031	NM_004937.3(CTNS):c.386T>A (p.Val129Glu)	CTNS, CTNS-AS1 (V129E)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 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 935444	NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)	CTNS-AS1, CTNS (Q145*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +2 more	GPathogenic
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 789618	NM_004937.3(CTNS):c.461+10del	CTNS, CTNS-AS1	Deletion (intron variant)	Ocular cystinosis +2 more	GLikely benign
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 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 496275	NM_004937.3(CTNS):c.480C>T (p.Phe160=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +4 more	GConflicting classifications of pathogenicity
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 765982	NM_004937.3(CTNS):c.510C>T (p.Phe170=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 990032	NM_004937.3(CTNS):c.534C>G (p.Ile178Met)	CTNS, CTNS-AS1 (I178M +1 more)	Single nucleotide variant (missense variant)	Cystinosis	GUncertain significance
Select item 715414	NM_004937.3(CTNS):c.534C>T (p.Ile178=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GBenign
Select item 990033	NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe)	CTNS, CTNS-AS1 (Y185F +1 more)	Single nucleotide variant (missense variant)	Cystinosis	GUncertain significance
Select item 257156	NM_004937.3(CTNS):c.561+4C>T	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GConflicting classifications of pathogenicity
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 798720	NM_004937.3(CTNS):c.621C>T (p.Phe207=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
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 1020638	NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	CTNS, CTNS-AS1 (A212V +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GPathogenic
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 553330	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS-AS1, CTNS	Single nucleotide variant (splice donor variant)	Cystinosis +4 more	GPathogenic
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 322842	NM_004937.3(CTNS):c.695G>A (p.Arg232His)	CTNS (R232H +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 496276	NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	CTNS (G258fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
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 551290	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS (T277fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 648616	NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	CTNS (L278P +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 716783	NM_004937.3(CTNS):c.834G>A (p.Leu278=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GBenign
Select item 757755	NM_004937.3(CTNS):c.852+8C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 730692	NM_004937.3(CTNS):c.897T>C (p.Ile299=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1090762	NM_004937.3(CTNS):c.909C>T (p.Leu303=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 188714	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS (S310fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS (G308R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 736454	NM_004937.3(CTNS):c.966C>T (p.Asn322=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 284194	NM_004937.3(CTNS):c.969C>T (p.Asn323=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 322844	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	CTNS (D324N +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +4 more	GUncertain significance
Select item 526030	NM_004937.3(CTNS):c.971-12G>A	CTNS	Single nucleotide variant (intron variant)	Infantile nephropathic cystinosis +4 more	GPathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +5 more	GPathogenic
Select item 1103058	NM_004937.3(CTNS):c.1029C>T (p.Ile343=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 841093	NM_004937.3(CTNS):c.1029C>A (p.Ile343=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1042415	NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	CTNS (F203del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GUncertain significance
Select item 574468	NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)	CTNS (P361L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 66