ClinVar Miner

List of variants in gene CTSD reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 194
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 11p15.5(chr11:1774508-1785629)x3
NC_000011.9:g.(?_1774733)_(1785089_?)dup
NM_001909.4(CTSD):c.-132_-131insCCCGC rs886048068
NM_001909.5(CTSD):c.*117C>T rs527778631
NM_001909.5(CTSD):c.*130G>A
NM_001909.5(CTSD):c.*133G>A
NM_001909.5(CTSD):c.*200C>G
NM_001909.5(CTSD):c.*210C>G
NM_001909.5(CTSD):c.*330G>T
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*356C>G rs886048062
NM_001909.5(CTSD):c.*358C>T rs542969755
NM_001909.5(CTSD):c.*375A>G
NM_001909.5(CTSD):c.*390G>A
NM_001909.5(CTSD):c.*398G>A
NM_001909.5(CTSD):c.*403C>T rs140852332
NM_001909.5(CTSD):c.*494C>T
NM_001909.5(CTSD):c.*509C>T
NM_001909.5(CTSD):c.*555C>A
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*651C>T
NM_001909.5(CTSD):c.*654C>T rs148490566
NM_001909.5(CTSD):c.*694G>A rs751538234
NM_001909.5(CTSD):c.*736C>G rs577842141
NM_001909.5(CTSD):c.*98G>A
NM_001909.5(CTSD):c.-12_-10GCC[5] (p.Met1_Gln2insAla) rs886043526
NM_001909.5(CTSD):c.-24C>T rs587780917
NM_001909.5(CTSD):c.-37G>A rs756112449
NM_001909.5(CTSD):c.-3G>T rs541792699
NM_001909.5(CTSD):c.-47A>G rs886048067
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.1009G>T (p.Ala337Ser)
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1010C>T (p.Ala337Val) rs1057518324
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.5(CTSD):c.1028G>A (p.Gly343Glu) rs796052406
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
NM_001909.5(CTSD):c.1036G>C (p.Gly346Arg) rs1565018716
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu) rs765270800
NM_001909.5(CTSD):c.1071+12A>G rs113936232
NM_001909.5(CTSD):c.1071+6C>T rs759803379
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1076C>T (p.Ser359Leu)
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1105G>A (p.Gly369Ser)
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)
NM_001909.5(CTSD):c.1150A>G (p.Ile384Val) rs767863175
NM_001909.5(CTSD):c.1158C>T (p.Gly386=)
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1170C>G (p.Ile390Met) rs370985523
NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059
NM_001909.5(CTSD):c.1185T>G (p.Thr395=) rs1565018468
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.5(CTSD):c.1210G>T (p.Val404Leu) rs750489880
NM_001909.5(CTSD):c.1211T>G (p.Val404Gly) rs796052399
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)
NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)
NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)
NM_001909.5(CTSD):c.1232G>A (p.Arg411His)
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.127G>C (p.Val43Leu)
NM_001909.5(CTSD):c.131A>T (p.Glu44Val) rs1554963026
NM_001909.5(CTSD):c.135C>G (p.Asp45Glu) rs573939509
NM_001909.5(CTSD):c.141T>G (p.Ile47Met) rs545927559
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr) rs555516403
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.16C>T (p.Leu6Phe)
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.5(CTSD):c.184G>T (p.Val62Leu)
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys) rs539823013
NM_001909.5(CTSD):c.190G>C (p.Glu64Gln)
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.5(CTSD):c.203C>T (p.Pro68Leu)
NM_001909.5(CTSD):c.215A>G (p.Lys72Arg)
NM_001909.5(CTSD):c.223A>G (p.Met75Val) rs144192783
NM_001909.5(CTSD):c.229-19G>A rs368152533
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.241G>A (p.Gly81Arg) rs199551387
NM_001909.5(CTSD):c.241G>T (p.Gly81Trp) rs199551387
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.285C>T (p.Val95=)
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser)
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro) rs1049074086
NM_001909.5(CTSD):c.307C>G (p.Leu103Val)
NM_001909.5(CTSD):c.315C>A (p.Val105=)
NM_001909.5(CTSD):c.339G>A (p.Leu113=)
NM_001909.5(CTSD):c.346G>A (p.Ala116Thr) rs367743333
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.358C>T (p.His120Tyr)
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp) rs1590907227
NM_001909.5(CTSD):c.376G>A (p.Asp126Asn) rs796052401
NM_001909.5(CTSD):c.409T>A (p.Ser137Thr)
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.411G>A (p.Ser137=) rs372999684
NM_001909.5(CTSD):c.429C>T (p.Gly143=)
NM_001909.5(CTSD):c.431C>G (p.Ser144Trp) rs754147413
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.443C>T (p.Ser148Phe) rs796052402
NM_001909.5(CTSD):c.463A>T (p.Thr155Ser)
NM_001909.5(CTSD):c.464_465delinsGC (p.Thr155Ser)
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.471G>A (p.Ser157=) rs760318745
NM_001909.5(CTSD):c.478T>C (p.Cys160Arg)
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.5(CTSD):c.491C>T (p.Ser164Leu)
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
NM_001909.5(CTSD):c.505C>G (p.Leu169Val) rs768487717
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.5(CTSD):c.518A>G (p.Lys173Arg)
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr) rs796052403
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.561C>T (p.Gly187=) rs796052405
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.586G>A (p.Asp196Asn)
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.614G>A (p.Arg205His)
NM_001909.5(CTSD):c.621C>A (p.Ser207=) rs367978332
NM_001909.5(CTSD):c.622G>A (p.Val208Ile)
NM_001909.5(CTSD):c.631G>A (p.Val211Met)
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.640G>A (p.Val214Ile)
NM_001909.5(CTSD):c.646G>A (p.Asp216Asn)
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.653T>C (p.Leu218Pro) rs1131691905
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.665A>G (p.Lys222Arg)
NM_001909.5(CTSD):c.68+6G>A rs1011130987
NM_001909.5(CTSD):c.704+5G>A rs1064796905
NM_001909.5(CTSD):c.704+6C>A
NM_001909.5(CTSD):c.704+6C>T rs370847523
NM_001909.5(CTSD):c.704+7G>A rs748547852
NM_001909.5(CTSD):c.70A>T (p.Ile24Phe)
NM_001909.5(CTSD):c.716C>T (p.Ala239Val)
NM_001909.5(CTSD):c.73C>T (p.Pro25Ser)
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu) rs145852974
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.5(CTSD):c.758A>G (p.Lys253Arg) rs138191189
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser) rs746312808
NM_001909.5(CTSD):c.76C>A (p.Leu26Met) rs1029534680
NM_001909.5(CTSD):c.770G>C (p.Gly257Ala) rs1057518289
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.799A>C (p.Lys267Gln)
NM_001909.5(CTSD):c.7C>T (p.Pro3Ser) rs952058991
NM_001909.5(CTSD):c.817C>T (p.His273Tyr) rs145905196
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.828-5C>T rs762444592
NM_001909.5(CTSD):c.828-6C>G
NM_001909.5(CTSD):c.829G>A (p.Val277Met)
NM_001909.5(CTSD):c.877A>C (p.Ile293Leu) rs748185051
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.5(CTSD):c.898C>T (p.Leu300Phe)
NM_001909.5(CTSD):c.89C>T (p.Thr30Met) rs747274524
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.924G>A (p.Val308=) rs1554962286
NM_001909.5(CTSD):c.926G>A (p.Arg309His) rs374540411
NM_001909.5(CTSD):c.927C>T (p.Arg309=) rs1174115566
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572
NM_001909.5(CTSD):c.956C>T (p.Pro319Leu) rs373170074
NM_001909.5(CTSD):c.968G>A (p.Gly323Asp)
NM_001909.5(CTSD):c.969C>T (p.Gly323=)
NM_001909.5(CTSD):c.972+10G>A rs531682785
NM_001909.5(CTSD):c.972+9C>T rs746243061
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.976A>G (p.Met326Val)
NM_001909.5(CTSD):c.977T>C (p.Met326Thr) rs1565018786
NM_001909.5(CTSD):c.978G>A (p.Met326Ile) rs370282882
NM_001909.5(CTSD):c.982C>G (p.Pro328Ala) rs796052397
NM_001909.5(CTSD):c.982C>T (p.Pro328Ser)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_001909.5(CTSD):c.999C>A (p.Ser333=)

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.