ClinVar for PubMed (Select 9537412) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953592	NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)	CTNS, CTNS-AS1 (W182* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2951028	NM_004937.3(CTNS):c.682-2A>C	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2950669	NC_000017.11:g.3654998del	CTNS, CTNS-AS1	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 2947243	NM_004937.3(CTNS):c.405dup (p.Val136fs)	CTNS, CTNS-AS1 (V136fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2946687	NM_004937.3(CTNS):c.204del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2942210	NM_004937.3(CTNS):c.686_699del (p.Gly229fs)	CTNS, CTNS-AS1 (G229fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
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
Select item 2925595	NM_004937.3(CTNS):c.562-1G>C	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 2681024	NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)	CTNS, CTNS-AS1 (T216fs +1 more)	Insertion (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS (W5*)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 2425240	NC_000017.10:g.(?_3543501)_(3552245_?)del	CTNS	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 2425239	NC_000017.10:g.(?_3543501)_(3543581_?)del	CTNS	Deletion	Ocular cystinosis +2 more	GPathogenic
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 2009652	NM_004937.3(CTNS):c.85_86del (p.Pro29fs)	CTNS (P29fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
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 1705665	NM_004937.3(CTNS):c.751_752del (p.Thr251fs)	CTNS (T104fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +3 more	GPathogenic
Select item 1698582	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	CTNS, CTNS-AS1 (Q189* +1 more)	Single nucleotide variant (nonsense)	Cystinosis +4 more	GPathogenic/Likely 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 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 1459518	NC_000017.11:g.3659858del	CTNS	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 1458479	NC_000017.10:g.(?_3504346)_(3561464_?)del	CTNS, SHPK +1 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 1457577	NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs)	CTNS (A52fs)	Insertion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1456035	NC_000017.10:g.(?_3550728)_(3550826_?)del	CTNS	Deletion	Ocular cystinosis +2 more	GPathogenic
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 1451995	NM_004937.3(CTNS):c.668del (p.Cys223fs)	CTNS-AS1, CTNS (C223fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +2 more	GPathogenic
Select item 1449340	NC_000017.10:g.(?_3392509)_(3571820_?)del	ASPA, CTNS +4 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 1425663	NM_004937.3(CTNS):c.699_700del (p.Ser234fs)	CTNS (S234fs +1 more)	Microsatellite (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 1395082	NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)	CTNS, CTNS-AS1 (W150* +1 more)	Single nucleotide variant (nonsense)	Ocular cystinosis +2 more	GPathogenic
Select item 1362222	NM_004937.3(CTNS):c.539_551del (p.Leu180fs)	CTNS, CTNS-AS1 (L33fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +2 more	GPathogenic
Select item 1076859	NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)	CTNS (W245* +1 more)	Single nucleotide variant (nonsense)	Ocular cystinosis +2 more	GPathogenic
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 1071434	NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)	CTNS, CTNS-AS1 (Q92*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1069680	NC_000017.10:g.(?_3539712)_(3552235_?)del	CTNS	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 1069679	NC_000017.10:g.(?_3539712)_(3543571_?)del	CTNS	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 1069678	NC_000017.10:g.(?_3392519)_(3564038_?)del	ASPA, CTNS +3 more	Deletion	Inborn genetic diseases +3 more	GPathogenic
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 1068522	NM_004937.3(CTNS):c.140+1del	CTNS	Deletion (splice donor variant +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1066227	NM_004937.3(CTNS):c.852+1G>A	CTNS	Single nucleotide variant (splice donor variant)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 984078	NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	CTNS, CTNS-AS1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Cystinosis +4 more	GPathogenic
Select item 965725	NM_004937.3(CTNS):c.790_791del (p.Gln264fs)	CTNS (Q117fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +2 more	GPathogenic
Select item 959150	NM_004937.3(CTNS):c.140+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 958766	NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)	CTNS (Q117* +1 more)	Single nucleotide variant (nonsense)	Ocular cystinosis +2 more	GPathogenic
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 936074	NM_004937.3(CTNS):c.141-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Ocular cystinosis +2 more	GLikely 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 856604	NM_004937.3(CTNS):c.841dup (p.Tyr281fs)	CTNS (Y281fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	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 831009	NC_000017.11:g.(?_3654988)_(3655362_?)del	CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 666181	NM_004937.3(CTNS):c.140+1G>T	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 665648	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 664004	NM_004937.3(CTNS):c.682-1G>T	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 658450	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Deletion	Inborn genetic diseases +3 more	GPathogenic
Select item 654346	NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	CTNS, CTNS-AS1 (Y143*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 652375	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 651911	NM_004937.3(CTNS):c.62-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 599228	NM_004937.3(CTNS):c.768dup (p.Val257fs)	CTNS (V257fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 584155	NC_000017.11:g.(?_3647444)_(3658175_?)del	CTNS-AS1, CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 557791	NM_004937.3(CTNS):c.853-1G>A	CTNS	Single nucleotide variant (splice acceptor variant)	Ocular cystinosis +3 more	GLikely pathogenic
Select item 556926	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Deletion (nonsense +2 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 551688	NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	CTNS, CTNS-AS1 (V233fs +1 more)	Microsatellite (frameshift variant)	Ocular cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 551290	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS (T277fs +1 more)	Duplication (frameshift variant)	Ocular cystinosis +3 more	GPathogenic
Select item 551289	NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	CTNS (W297* +1 more)	Single nucleotide variant (nonsense)	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 526030	NM_004937.3(CTNS):c.971-12G>A	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +4 more	GPathogenic
Select item 496276	NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	CTNS (G258fs +1 more)	Deletion (frameshift variant)	Nephropathic cystinosis +5 more	GPathogenic
Select item 455787	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +4 more	GPathogenic
Select item 371212	NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)	CTNS, CTNS-AS1	Deletion (nonsense)	Nephropathic cystinosis	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 267306	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS, CTNS-AS1 (Q128*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
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 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 189067	NM_004937.3(CTNS):c.561+1del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Cystinosis +7 more	GPathogenic
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 21441	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS (V233fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 4445	NC_000017.11:g.3600934_3658165del	CTNS, CTNS-AS1 +6 more	Deletion	Nephropathic cystinosis	GPathogenic
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 4442	NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)	CTNS	Microsatellite (nonsense +2 more)	Nephropathic cystinosis	GPathogenic
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

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Items: 81