Total 166 pathogenic variants reported for Creatine transporter deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) SNV
Germline		 ChrX:153694577 Pathogenic Creatine transporter deficiency
Inborn genetic diseases
Condition: not provided
Intellectual disability		 Reviewed By Expert Panel
 CA256009 rs_122453113

7 SubmittersRCV000012462RCV000623751RCV000713354RCV001257720
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) SNV
Germline		 ChrX:153693586 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA256011 rs_122453114

2 SubmittersRCV000012463
NM_005629.4(SLC6A8):c.263-2A>G SNV
Germline		 ChrX:153690373 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415077240 rs_1569539244

2 SubmittersRCV000012467
NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) SNV
Germline		 ChrX:153693361 Pathogenic Creatine transporter deficiency No Assertion Criteria Provided
 CA256013 rs_122453116

1 SubmittersRCV000012468
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) SNV
Germline		 ChrX:153691304 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA256014 rs_122453117

2 SubmittersRCV000012469
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) SNV
Germline		 ChrX:153694424 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA256015 rs_122453118

2 SubmittersRCV000012470
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) SNV
Germline		 ChrX:153694753 Likely pathogenic Creatine transporter deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA345034 rs_397515558

4 SubmittersRCV000055918RCV004767050
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) SNV
Germline		 ChrX:153694783 Pathogenic Creatine transporter deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA345036 rs_397515559

4 SubmittersRCV000055919RCV004721257
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys) SNV
Germline		 ChrX:153694749 Conflicting classifications of pathogenicity not specified
Creatine transporter deficiency
Creatine deficiency syndrome 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA206289 rs_782028471

4 SubmittersRCV000193056RCV001045442RCV001835718RCV004965317
NM_005629.4(SLC6A8):c.1254+1G>A SNV
Germline		 ChrX:153694018 Pathogenic/Likely pathogenic Condition: not provided
Creatine transporter deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415086648 rs_1557045333

2 SubmittersRCV000520778RCV001844184
NM_005629.4(SLC6A8):c.1393-8T>G SNV
Germline		 ChrX:153694336 Conflicting classifications of pathogenicity Condition: not provided
Creatine transporter deficiency		 Criteria Provided
Conflicting Classifications
 CA658659052 rs_1557045456

2 SubmittersRCV000522899RCV005056130
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) SNV
Germline		 ChrX:153695084 Conflicting classifications of pathogenicity Creatine transporter deficiency
Inborn genetic diseases
Condition: not provided
SLC6A8-related disorder		 Criteria Provided
Conflicting Classifications
 CA10549662 rs_782560726

5 SubmittersRCV000541130RCV002314990RCV001697309RCV004755956
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) SNV
Germline		 ChrX:153693934 Likely pathogenic Creatine transporter deficiency
Inborn genetic diseases
Condition: not provided		 Reviewed By Expert Panel
 CA415086241 rs_1557045267

6 SubmittersRCV000551024RCV000623839RCV001572173
NM_005629.4(SLC6A8):c.1016+2T>C SNV
Germline		 ChrX:153693368 Pathogenic Inborn genetic diseases
Creatine transporter deficiency		 Reviewed By Expert Panel
 CA415085022 rs_1557045066

5 SubmittersRCV000622581RCV001803901
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) SNV
Germline		 ChrX:153693908 Likely pathogenic Creatine transporter deficiency
Intellectual disability
Condition: not provided		 Reviewed By Expert Panel
 CA415086073 rs_1557045250

7 SubmittersRCV000640931RCV001255373RCV002251491
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) SNV
Germline		 ChrX:153694406 Pathogenic Creatine transporter deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA415087669 rs_1569539443

2 SubmittersRCV000703298
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter) SNV
Germline		 ChrX:153694781 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415090776 rs_1569539466

1 SubmittersRCV000704541
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) SNV
Germline		 ChrX:153694379 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415087492 rs_1239466041

1 SubmittersRCV000821021
NM_005629.4(SLC6A8):c.1142-2A>C SNV
Germline		 ChrX:153693903 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415086031 rs_1603217176

1 SubmittersRCV000851519
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) SNV
Germline		 ChrX:153694347 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415087229 rs_1603217473

3 SubmittersRCV000990970
NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter) SNV
Germline		 ChrX:153694445 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415087934 rs_143916832

1 SubmittersRCV001027537
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter) SNV
Germline		 ChrX:153692029 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415079988 rs_2091458828

1 SubmittersRCV001066106
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu) SNV
Germline		 ChrX:153695170 Conflicting classifications of pathogenicity Creatine deficiency syndrome 1
Creatine transporter deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA415091249 rs_1160275875

4 SubmittersRCV001276528RCV001047301RCV004726829
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) SNV
Germline		 ChrX:153690454 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415077745 rs_2091449037

2 SubmittersRCV001210427
NM_005629.4(SLC6A8):c.912+2T>G SNV
Germline		 ChrX:153693177 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415084348 rs_2091466607

1 SubmittersRCV001226930
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) SNV
Germline		 ChrX:153694748 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415090650 rs_140601882

1 SubmittersRCV001262629
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg) SNV
Germline		 ChrX:153688773 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415076828 rs_1557043855

1 SubmittersRCV001262444
NM_005629.4(SLC6A8):c.1108C>T (p.Gln370Ter) SNV
Germline		 ChrX:153693553 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415085720 rs_2148363243

1 SubmittersRCV001381299
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) SNV
Germline		 ChrX:153691528 Likely pathogenic Condition: not provided
Creatine transporter deficiency		 Reviewed By Expert Panel
 CA415079397 rs_1557044461

2 SubmittersRCV001587504RCV003159211
NM_005629.4(SLC6A8):c.1820G>A (p.Arg607Gln) SNV
Germline		 ChrX:153695126 Conflicting classifications of pathogenicity Condition: not provided
Creatine transporter deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA415091159 rs_1557045843

3 SubmittersRCV001768517RCV002540247RCV004968251
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter) SNV
Germline		 ChrX:153694205 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415086858 rs_2091474617

1 SubmittersRCV001754572
NM_005629.4(SLC6A8):c.1055G>A (p.Ser352Asn) SNV
Germline		 ChrX:153693500 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415085356 rs_2148363211

1 SubmittersRCV001923263
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu) SNV
Germline		 ChrX:153693932 Pathogenic Creatine transporter deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA415086230 rs_2148363661

5 SubmittersRCV001874229RCV003128822
NM_005629.4(SLC6A8):c.1318C>T (p.Arg440Cys) SNV
Germline		 ChrX:153694193 Conflicting classifications of pathogenicity Creatine transporter deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10549491 rs_782326194

2 SubmittersRCV002005507RCV004970683
NM_005629.4(SLC6A8):c.1315T>G (p.Phe439Val) SNV
Germline		 ChrX:153694190 Conflicting classifications of pathogenicity Creatine transporter deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10549490 rs_782206415

2 SubmittersRCV002202373RCV005493255
NM_005629.4(SLC6A8):c.1885G>A (p.Val629Ile) SNV
Germline		 ChrX:153695191 Conflicting classifications of pathogenicity Condition: not provided
not specified
Creatine transporter deficiency		 Criteria Provided
Conflicting Classifications
 CA10549678 rs_781899045

3 SubmittersRCV002226061RCV003331332RCV005095778
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter) SNV
Germline		 ChrX:153694585 Pathogenic/Likely pathogenic Creatine transporter deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA415088410 rs_782074069

2 SubmittersRCV002283355
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter) SNV
Germline		 ChrX:153691338 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415078467 rs_2148360995

1 SubmittersRCV002289362
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter) SNV
Germline		 ChrX:153694379 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415087494 rs_1239466041

3 SubmittersRCV002465388
NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg) SNV
Germline		 ChrX:153688650 Conflicting classifications of pathogenicity Creatine transporter deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA415076140 rs_1233444890

2 SubmittersRCV003090308RCV004719295
NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter) SNV
Germline		 ChrX:153692058 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415080295 rs_2522158368

1 SubmittersRCV003019465
NM_005629.4(SLC6A8):c.1597-6C>G SNV
Germline		 ChrX:153694713 Conflicting classifications of pathogenicity Condition: not provided
Creatine transporter deficiency		 Criteria Provided
Conflicting Classifications
 CA2580101818 rs_2091478800

2 SubmittersRCV004725480RCV003051555
NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter) SNV
Germline		 ChrX:153691543 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415079466 rs_2522156636

1 SubmittersRCV003159279
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=) SNV
Germline		 ChrX:153693175 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415084325 rs_1064794836

1 SubmittersRCV003159283
NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter) SNV
Germline		 ChrX:153694576 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415088347 rs_2522168615

1 SubmittersRCV003236551
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser) SNV
Germline		 ChrX:153688803 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415076993 rs_2522145845

1 SubmittersRCV003314508
NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter) SNV
Germline		 ChrX:153694407 Pathogenic Condition: not provided
Creatine transporter deficiency		 Reviewed By Expert Panel
 CA415087684 rs_2522167571

2 SubmittersRCV004775380RCV003334336
NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter) SNV
Germline		 ChrX:153694591 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415088445 rs_2522168744

1 SubmittersRCV003334337
NM_005629.4(SLC6A8):c.913-1G>A SNV
Germline		 ChrX:153693262 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415084391 rs_2091467397

1 SubmittersRCV003334340
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter) SNV
Germline		 ChrX:153691416 Likely pathogenic Creatine transporter deficiency
Condition: not provided		 Reviewed By Expert Panel
 CA415078874 rs_2522156087

2 SubmittersRCV003334342RCV005416714
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro) SNV
Germline		 ChrX:153693973 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415086484 rs_2522165418

1 SubmittersRCV003334344
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly) SNV
Germline		 ChrX:153694372 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415087450 rs_2522167369

1 SubmittersRCV003334346
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg) SNV
Germline		 ChrX:153691535 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415079430 rs_2522156561

1 SubmittersRCV003388817
NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter) SNV
Germline		 ChrX:153694781 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415090774 rs_1569539466

1 SubmittersRCV003448518
NM_005629.4(SLC6A8):c.1495+2T>G SNV
Germline		 ChrX:153694448 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415087966 rs_2522167771

1 SubmittersRCV003482176
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg) SNV
Germline		 ChrX:153694803 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415090844 rs_2522169971

1 SubmittersRCV003482178
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro) SNV
Germline		 ChrX:153694821 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415090882 rs_782398727

1 SubmittersRCV003482179
NM_005629.4(SLC6A8):c.1495+5G>C SNV
Germline		 ChrX:153694451 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA2580610964 rs_2522167787

1 SubmittersRCV003482180
NM_005629.4(SLC6A8):c.1667G>A (p.Trp556Ter) SNV
Germline		 ChrX:153694789 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415090808 rs_2522169864

1 SubmittersRCV003482181
NM_005629.4(SLC6A8):c.394+2T>G SNV
Germline		 ChrX:153690508 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415078137 rs_2522152542

1 SubmittersRCV003512842
NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter) SNV
Germline		 ChrX:153694438 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415087896 rs_2522167692

1 SubmittersRCV003625503
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His) SNV
Unknown		 ChrX:153695075 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 CA415091041 rs_868934708

1 SubmittersRCV003883230
NM_005629.4(SLC6A8):c.786C>G (p.Tyr262Ter) SNV
Germline		 ChrX:153693049 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415083182 rs_1557044940

1 SubmittersRCV003991427
NM_005629.4(SLC6A8):c.1685G>A (p.Trp562Ter) SNV
Germline		 ChrX:153694807 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415090852 rs_2522169987

1 SubmittersRCV003991429
NM_005629.4(SLC6A8):c.917G>A (p.Trp306Ter) SNV
Germline		 ChrX:153693267 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415084403 rs_2522162557

1 SubmittersRCV003991431
NM_005629.4(SLC6A8):c.1190C>T (p.Pro397Leu) SNV
Germline		 ChrX:153693953 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415086358 rs_2522165328

1 SubmittersRCV003991438
NM_005629.4(SLC6A8):c.1206G>A (p.Trp402Ter) SNV
Germline		 ChrX:153693969 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415086460 rs_2522165394

1 SubmittersRCV003991439
NM_005629.4(SLC6A8):c.1271G>A (p.Gly424Asp) SNV
Germline		 ChrX:153694146 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415086699 rs_11548960

2 SubmittersRCV003991446
NM_005629.4(SLC6A8):c.778-2A>G SNV
Germline		 ChrX:153693039 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415083128 rs_2522161767

1 SubmittersRCV003991448
NM_005629.4(SLC6A8):c.262+1G>T SNV
Germline		 ChrX:153688837 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415077156 rs_2522146020

1 SubmittersRCV003991449
NM_005629.4(SLC6A8):c.676G>T (p.Glu226Ter) SNV
Germline		 ChrX:153692006 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel
 CA415079810 rs_2522158159

1 SubmittersRCV003991453
NM_005629.4(SLC6A8):c.257G>A (p.Gly86Asp) SNV
Germline		 ChrX:153688831 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter
 rs_2522145985

1 SubmittersRCV004595246
NM_005629.4(SLC6A8):c.757G>C (p.Gly253Arg) SNV
Germline		 ChrX:153692087 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel

1 SubmittersRCV004597246
NM_005629.4(SLC6A8):c.1142-2A>G SNV
Germline		 ChrX:153693903 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel

1 SubmittersRCV004597248
NM_005629.4(SLC6A8):c.462G>A (p.Trp154Ter) SNV
Germline		 ChrX:153691371 Pathogenic Creatine transporter deficiency Reviewed By Expert Panel

1 SubmittersRCV004597250
NM_005629.4(SLC6A8):c.541T>C (p.Cys181Arg) SNV
Germline		 ChrX:153691450 Likely pathogenic Creatine transporter deficiency Reviewed By Expert Panel

1 SubmittersRCV004597252
NM_005629.4(SLC6A8):c.644+5G>C SNV
Germline		 ChrX:153691558 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004784935
NM_005629.4(SLC6A8):c.643G>T (p.Glu215Ter) SNV
Germline		 ChrX:153691552 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004794731
NM_005629.4(SLC6A8):c.951C>G (p.Tyr317Ter) SNV
Germline		 ChrX:153693301 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005233509
NM_005629.4(SLC6A8):c.729G>A (p.Trp243Ter) SNV
Germline		 ChrX:153692059 Pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005233563
NM_005629.4(SLC6A8):c.262+1G>A SNV
Germline		 ChrX:153688837 Likely pathogenic Creatine transporter deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005410869