CTNS[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 4454	NC_000017.11:g.3636418_3636419insT	CTNS	Insertion	Ocular cystinosis	GPathogenic
Select item 4453	NC_000017.11:g.3636418G>T	CTNS	Single nucleotide variant	Ocular cystinosis	GPathogenic
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	not provided +3 more	GBenign
Select item 558923	NM_004937.3(CTNS):c.-634C>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 889009	NM_004937.2(CTNS):c.-581A>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 322823	NM_004937.3(CTNS):c.-272A>C	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322824	NM_004937.3(CTNS):c.-258G>A	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322825	NM_004937.3(CTNS):c.-230+11A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +1 more	GBenign
Select item 322827	NM_004937.3(CTNS):c.-136C>A	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322828	NM_004937.3(CTNS):c.-74A>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322829	NM_004937.3(CTNS):c.-47A>C	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322830	NM_004937.3(CTNS):c.-24C>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322831	NM_004937.3(CTNS):c.-23AG[1]	CTNS	Microsatellite (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322832	NM_004937.3(CTNS):c.-20+13T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 1277327	NM_004937.3(CTNS):c.-19-211A>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 552524	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 553156	NM_004937.3(CTNS):c.-8C>T	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Nephropathic cystinosis	GUncertain significance
Select item 1391189	NM_004937.3(CTNS):c.1A>T (p.Met1Leu)	CTNS (M1L)	Single nucleotide variant (missense variant +3 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1358167	NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)	CTNS (I2T)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 1078471	NM_004937.3(CTNS):c.12T>C (p.Asn4=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS (W5*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +7 more	GPathogenic
Select item 549930	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2049001	NM_004937.3(CTNS):c.22A>G (p.Ile8Val)	CTNS (I8V)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 1454306	NM_004937.3(CTNS):c.27del (p.Phe9fs)	CTNS (F9fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1671398	NM_004937.3(CTNS):c.29T>C (p.Ile10Thr)	CTNS (I10T)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 1140984	NM_004937.3(CTNS):c.30C>A (p.Ile10=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 556926	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Deletion (nonsense +2 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1084631	NM_004937.3(CTNS):c.39C>T (p.Pro13=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2934624	NM_004937.3(CTNS):c.40C>T (p.Leu14=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2200916	NM_004937.3(CTNS):c.48C>T (p.Leu16=)	CTNS	Single nucleotide variant (intron variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2184869	NM_004937.3(CTNS):c.49G>A (p.Val17Ile)	CTNS (V17I)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 4442	NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)	CTNS	Microsatellite (nonsense +2 more)	Nephropathic cystinosis	GPathogenic
Select item 852141	NM_004937.3(CTNS):c.61_61+2del	CTNS	Deletion (splice donor variant +1 more)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1075103	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	CTNS (E21*)	Single nucleotide variant (nonsense +2 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1490046	NM_004937.3(CTNS):c.61+1G>T	CTNS	Single nucleotide variant (splice donor variant +1 more)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 557916	NM_004937.3(CTNS):c.61+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 1504210	NM_004937.3(CTNS):c.61+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Ocular cystinosis +3 more	GLikely pathogenic
Select item 836956	NM_004937.3(CTNS):c.61+5G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GPathogenic
Select item 1602795	NM_004937.3(CTNS):c.61+7T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1558065	NM_004937.3(CTNS):c.61+8T>G	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2162268	NM_004937.3(CTNS):c.61+10G>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2947709	NM_004937.3(CTNS):c.61+17C>G	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2066399	NM_004937.3(CTNS):c.61+19C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1663935	NM_004937.3(CTNS):c.61+20G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GLikely benign
Select item 870585	NM_004937.3(CTNS):c.62-2864_225+2278del	CTNS	Deletion (splice acceptor variant +2 more)	Nephropathic cystinosis	GPathogenic
Select item 1269524	NM_004937.3(CTNS):c.62-224C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665648	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 2929267	NM_004937.3(CTNS):c.62-19T>C	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2945025	NM_004937.3(CTNS):c.62-14T>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 658450	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Deletion	Inborn genetic diseases +3 more	GPathogenic
Select item 1084964	NM_004937.3(CTNS):c.62-8C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2934573	NM_004937.3(CTNS):c.62-5T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 556823	NM_004937.3(CTNS):c.62-2A>G	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 945056	NM_004937.3(CTNS):c.62-1G>T	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 651911	NM_004937.3(CTNS):c.62-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1903222	NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)	CTNS (S22T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 754780	NM_004937.3(CTNS):c.66A>C (p.Ser22=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 1151160	NM_004937.3(CTNS):c.69C>T (p.Ser23=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2178493	NM_004937.3(CTNS):c.70G>A (p.Val24Ile)	CTNS (V24I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 555150	NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	CTNS (S25C)	Single nucleotide variant (missense variant +2 more)	Nephropathic cystinosis	GConflicting classifications of pathogenicity
Select item 2177467	NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)	CTNS (L26F)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 2949065	NM_004937.3(CTNS):c.78C>G (p.Leu26=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1597694	NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)	CTNS (T27N)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2933252	NM_004937.3(CTNS):c.81T>C (p.Thr27=)	CTNS	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1069102	NM_004937.3(CTNS):c.82_83del (p.Val28fs)	CTNS (V28fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
Select item 322833	NM_004937.3(CTNS):c.82G>C (p.Val28Leu)	CTNS (V28L)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 2009652	NM_004937.3(CTNS):c.85_86del (p.Pro29fs)	CTNS (P29fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
Select item 2187714	NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)	CTNS (P29L)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 2021186	NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)	CTNS (P30S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1130353	NM_004937.3(CTNS):c.90T>C (p.Pro30=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 253208	NM_004937.3(CTNS):c.91dup (p.Val31fs)	CTNS (V31fs)	Duplication (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 1133834	NM_004937.3(CTNS):c.93C>T (p.Val31=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 322834	NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	CTNS (V32I)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 1160973	NM_004937.3(CTNS):c.99G>A (p.Lys33=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 1533968	NM_004937.3(CTNS):c.102G>A (p.Leu34=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1586298	NM_004937.3(CTNS):c.105G>A (p.Glu35=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2077180	NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)	CTNS (N36K)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
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)	Ocular cystinosis +6 more	GConflicting classifications of pathogenicity
Select item 2938396	NM_004937.3(CTNS):c.117G>T (p.Ser39=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 1130210	NM_004937.3(CTNS):c.117G>C (p.Ser39=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
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 2585203	NM_004937.3(CTNS):c.120dup (p.Asn41fs)	CTNS (N41fs)	Duplication (frameshift variant +2 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 253209	NM_004937.3(CTNS):c.120del (p.Asn41fs)	CTNS (N41fs)	Deletion (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 2068473	NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)	CTNS (N41T)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
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 +6 more	GBenign/Likely benign
Select item 1148092	NM_004937.3(CTNS):c.132C>T (p.Leu44=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2954303	NM_004937.3(CTNS):c.135C>A (p.Thr45=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2681015	NM_004937.3(CTNS):c.140+1_140+20del	CTNS	Deletion (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
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 1381664	NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)	CTNS (R47Q)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +3 more	GUncertain significance
Select item 1068522	NM_004937.3(CTNS):c.140+1del	CTNS	Deletion (splice donor variant +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 3242213	NM_004937.3(CTNS):c.140+2dup	CTNS	Duplication (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2936826	NM_004937.3(CTNS):c.140+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic

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