ClinVar Miner

List of variants in gene CTNS reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP
CTNS, -295G-C, PROMOTER
CTNS, IVS7AS, C-G, -10
NC_000017.10:g.(?_3539712)_(3560109_?)del
NC_000017.10:g.(?_3539712)_(3561479_?)del
NC_000017.10:g.(?_3539712)_(3561489_?)del
NC_000017.10:g.(?_3550718)_(3552245_?)del
NC_000017.10:g.(?_3550728)_(3552235_?)del
NC_000017.10:g.(?_3550738)_(3561469_?)del
NC_000017.10:g.(?_3561289)_(3564038_?)del
NM_001031681.2(CTNS):c.1015G>A (p.Gly339Arg) rs121908127
NM_001031681.2(CTNS):c.140+1G>T
NM_001031681.2(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_001031681.2(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_001031681.2(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_001031681.2(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_001031681.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_001031681.2(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_001031681.2(CTNS):c.429C>A (p.Tyr143Ter)
NM_001031681.2(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_001031681.2(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001031681.2(CTNS):c.58_59TG[1] (p.Cys20_Glu21delinsTer) rs1567695026
NM_001031681.2(CTNS):c.613G>A (p.Asp205Asn) rs113994208
NM_001031681.2(CTNS):c.646dup (p.Thr216fs) rs893207601
NM_001031681.2(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_001031681.2(CTNS):c.682-1G>T
NM_001031681.2(CTNS):c.696dup (p.Val233fs) rs113994209
NM_001031681.2(CTNS):c.751_754delinsCG (p.Thr251fs) rs1555564051
NM_001031681.2(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_001031681.2(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_001031681.2(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.971-12G>A rs375952052

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.