CTNS-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059934, LOC130059935 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	HASPIN, ITGAE +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154546	GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1	CTNS, CTNS-AS1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 57150	GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3	CTNS, CTNS-AS1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 4445	NC_000017.11:g.3600934_3658165del	CTNS, CTNS-AS1 +6 more	Deletion	Nephropathic cystinosis	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 157374	Single allele	CTNS, CTNS-AS1 +11 more	Deletion	Normal pregnancy	Gnot provided
Select item 151502	GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1	CTNS, CTNS-AS1 +5 more	Copy number loss	See cases	GBenign
Select item 652375	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 526033	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 455786	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS, LOC130059981 +2 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 149370	GRCh38/hg38 17p13.2(chr17:3637051-3661051)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 144620	GRCh38/hg38 17p13.2(chr17:3637051-3657972)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GBenign
Select item 144433	GRCh38/hg38 17p13.2(chr17:3637097-3657852)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GBenign
Select item 146829	GRCh38/hg38 17p13.2(chr17:3638550-3656739)x1	CTNS, CTNS-AS1	Copy number loss	See cases	GLikely benign
Select item 147854	GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1	CTNS, CTNS-AS1	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 584155	NC_000017.11:g.(?_3647444)_(3658175_?)del	CTNS-AS1, CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
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 2932749	NM_004937.3(CTNS):c.226-15C>T	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2931554	NM_004937.3(CTNS):c.226-14A>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2037264	NM_004937.3(CTNS):c.226-13dup	CTNS, CTNS-AS1	Duplication (intron variant)	Ocular cystinosis +2 more	GUncertain significance
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 1086292	NM_004937.3(CTNS):c.226-8C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2944246	NM_004937.3(CTNS):c.226-7C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2922143	NM_004937.3(CTNS):c.226-6dup	CTNS, CTNS-AS1	Duplication (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1535286	NM_004937.3(CTNS):c.226-7C>T	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2950669	NC_000017.11:g.3654998del	CTNS, CTNS-AS1	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 2681021	NM_004937.3(CTNS):c.226-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2014278	NM_004937.3(CTNS):c.226-1G>C	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Ocular cystinosis +2 more	GLikely pathogenic
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 1726980	NM_004937.3(CTNS):c.236del (p.Pro79fs)	CTNS, CTNS-AS1 (P79fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +2 more	GLikely pathogenic
Select item 1108795	NM_004937.3(CTNS):c.246G>A (p.Val82=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1354041	NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)	CTNS, CTNS-AS1 (T83I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 370183	NM_004937.3(CTNS):c.251del (p.Asn84fs)	CTNS, CTNS-AS1 (N84fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2462393	NM_004937.3(CTNS):c.253T>A (p.Ser85Thr)	CTNS-AS1, CTNS (S85T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 253206	NM_004937.3(CTNS):c.257_258del (p.Ser86fs)	CTNS, CTNS-AS1 (S86fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1065629	NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	CTNS, CTNS-AS1 (Q88K)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	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 1071434	NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)	CTNS, CTNS-AS1 (Q92*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2162357	NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)	CTNS, CTNS-AS1 (N93S)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 4441	NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)	CTNS-AS1, CTNS (G95*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis	GPathogenic
Select item 714823	NM_004937.3(CTNS):c.285A>T (p.Gly95=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 1724190	NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	CTNS, CTNS-AS1 (Q96*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 2953143	NM_004937.3(CTNS):c.288A>G (p.Gln96=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2111174	NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)	CTNS, CTNS-AS1 (L97F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 188741	NM_004937.3(CTNS):c.292dup (p.Thr98fs)	CTNS, CTNS-AS1 (T98fs)	Duplication (frameshift variant +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 984078	NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	CTNS, CTNS-AS1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 788745	NM_004937.3(CTNS):c.300T>C (p.Tyr100=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 891307	NM_004937.3(CTNS):c.306T>C (p.His102=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1955370	NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)	CTNS-AS1, CTNS (N104S)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 554790	NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	CTNS-AS1, CTNS (N107fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 253205	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS, CTNS-AS1 (Q108fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
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 2063360	NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)	CTNS, CTNS-AS1 (G110S)	Single nucleotide variant (missense variant +1 more)	Juvenile nephropathic cystinosis +2 more	GUncertain significance
Select item 4457	NM_004937.3(CTNS):c.329G>T (p.Gly110Val)	CTNS, CTNS-AS1 (G110V)	Single nucleotide variant (missense variant +1 more)	Cystinosis, atypical nephropathic	GPathogenic
Select item 371171	NM_004937.3(CTNS):c.329+2T>C	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Nephropathic cystinosis +1 more	GConflicting classifications of pathogenicity
Select item 1104758	NM_004937.3(CTNS):c.329+10C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2950772	NM_004937.3(CTNS):c.329+13C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2931530	NM_004937.3(CTNS):c.329+14_329+15del	CTNS, CTNS-AS1	Deletion (intron variant)	Ocular cystinosis +2 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 2952600	NM_004937.3(CTNS):c.330-20G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2942536	NM_004937.3(CTNS):c.330-18C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2925226	NM_004937.3(CTNS):c.330-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1566726	NM_004937.3(CTNS):c.330-9_330-7del	CTNS, CTNS-AS1	Deletion (intron variant)	Juvenile nephropathic cystinosis +2 more	GLikely 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 1146556	NM_004937.3(CTNS):c.333G>A (p.Pro111=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Juvenile nephropathic cystinosis +2 more	GLikely benign
Select item 2002842	NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)	CTNS, CTNS-AS1	Deletion (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1466140	NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)	CTNS, CTNS-AS1	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1154166	NM_004937.3(CTNS):c.354C>T (p.Ile118=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant +1 more)	Juvenile nephropathic cystinosis +2 more	GLikely benign
Select item 290319	NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)	CTNS, CTNS-AS1 (R119C)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 198524	NM_004937.3(CTNS):c.356G>A (p.Arg119His)	CTNS, CTNS-AS1 (R119H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 1388528	NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)	CTNS, CTNS-AS1 (S120N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 322838	NM_004937.3(CTNS):c.363C>T (p.Ser121=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 712938	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	CTNS, CTNS-AS1 (A122T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1404985	NM_004937.3(CTNS):c.365C>T (p.Ala122Val)	CTNS, CTNS-AS1 (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2938154	NM_004937.3(CTNS):c.366C>T (p.Ala122=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +2 more	GLikely benign
Select item 1511707	NM_004937.3(CTNS):c.367A>G (p.Ile123Val)	CTNS, CTNS-AS1 (I123V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 761319	NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)	CTNS-AS1, CTNS (I123S)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GLikely benign

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