Total 82 pathogenic variants reported for Hyperekplexia 3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) SNV
Germline
Chr11:20617755 Pathogenic Hyperekplexia 3 Criteria Provided
Multiple Submitters
No Conflicts
CA340450 rs_121908493

4 SubmittersRCV000006117

NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) SNV
Germline
Chr11:20628056 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA340453 rs_121908494

4 SubmittersRCV000006119

NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter) SNV
Germline
Chr11:20638477 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided
CA340454 rs_121908495

2 SubmittersRCV000006120

NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val) SNV
Germline
Chr11:20607583 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided
CA340456 rs_121908496

2 SubmittersRCV000006121

NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser) SNV
Germline
Chr11:20630717 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided
CA340457 rs_121908497

2 SubmittersRCV000006122

NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg) SNV
Germline
Chr11:20630721 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided
CA342798 rs_281864926

2 SubmittersRCV000024247

NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg) SNV
Unknown
Chr11:20628028 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided
CA343002 rs_281864925

1 SubmittersRCV000031924

NM_004211.5(SLC6A5):c.4-11T>C SNV
Germline
Chr11:20601118 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA5920971 rs_774039277

2 SubmittersRCV000346862

NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly) SNV
Germline
Chr11:20601259 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921005 rs_755131121

2 SubmittersRCV001246406RCV003258751

NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val) SNV
Germline
Chr11:20646890 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921663 rs_562578394

2 SubmittersRCV002056194RCV005492814

NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val) SNV
Germline
Chr11:20601184 Conflicting classifications of pathogenicity Hyperekplexia 3
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5920986 rs_200496125

3 SubmittersRCV001245247RCV001764270RCV005732083

NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) SNV
Germline
Chr11:20601134 Pathogenic/Likely pathogenic Condition: not provided
Hyperekplexia 3
Criteria Provided
Multiple Submitters
No Conflicts
CA5920975 rs_752254977

4 SubmittersRCV000522358RCV001857938

NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp) SNV
Germline
Chr11:20607010 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921176 rs_371265931

3 SubmittersRCV000650377RCV002531959

NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) SNV
Germline
Chr11:20636322 Pathogenic/Likely pathogenic Hyperekplexia 3
Condition: not provided
SLC6A5-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA5921539 rs_772652517

5 SubmittersRCV000650379RCV002281121RCV004754517

NM_004211.5(SLC6A5):c.571C>T (p.Arg191Ter) SNV
Germline
Chr11:20604316 Pathogenic Hyperekplexia 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA5921135 rs_376783257

2 SubmittersRCV000702191RCV005626166

NM_004211.5(SLC6A5):c.2070+1G>A SNV
Germline
Chr11:20646935 Pathogenic/Likely pathogenic Hyperekplexia 3 Criteria Provided
Multiple Submitters
No Conflicts
CA5921669 rs_770660705

2 SubmittersRCV000779055

NM_004211.5(SLC6A5):c.808C>T (p.Gln270Ter) SNV
Germline
Chr11:20607135 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA5921204 rs_778603956

1 SubmittersRCV000814781

NM_004211.5(SLC6A5):c.1969+4A>T SNV
Germline
Chr11:20638562 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA597487745 rs_1476186922

3 SubmittersRCV000796748

NM_004211.5(SLC6A5):c.679+1G>A SNV
Germline
Chr11:20604425 Pathogenic/Likely pathogenic Hyperekplexia 3 Criteria Provided
Multiple Submitters
No Conflicts
CA379913092 rs_1590154255

2 SubmittersRCV000807685

NM_004211.5(SLC6A5):c.1624+9C>T SNV
Germline
Chr11:20630824 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA5921514 rs_745823180

2 SubmittersRCV001108308

NM_004211.5(SLC6A5):c.340C>T (p.Pro114Ser) SNV
Germline
Chr11:20601465 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921049 rs_746842267

2 SubmittersRCV001312271RCV005278813

NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter) SNV
Germline
Chr11:20626762 Pathogenic Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA5921404 rs_142573911

2 SubmittersRCV001784989RCV004040802

NM_004211.5(SLC6A5):c.187C>T (p.Gln63Ter) SNV
Germline
Chr11:20601312 Conflicting classifications of pathogenicity Condition: not provided
Hyperekplexia 3
Criteria Provided
Conflicting Classifications
CA379911273 rs_1474968844

2 SubmittersRCV002225954RCV001972589

NM_004211.5(SLC6A5):c.1260+1G>T SNV
Germline
Chr11:20617885 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379916525 rs_2133788446

1 SubmittersRCV001378436

NM_004211.5(SLC6A5):c.2171G>C (p.Cys724Ser) SNV
Germline
Chr11:20652389 Conflicting classifications of pathogenicity Condition: not provided
Hyperekplexia 3
Criteria Provided
Conflicting Classifications
CA5921711 rs_142440636

2 SubmittersRCV001756493RCV002074001

NM_004211.5(SLC6A5):c.710T>C (p.Leu237Pro) SNV
Germline
Chr11:20607037 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379913701 rs_2133774690

1 SubmittersRCV001964103

NM_004211.5(SLC6A5):c.2258C>T (p.Ser753Leu) SNV
Germline
Chr11:20654732 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921748 rs_1715297

2 SubmittersRCV001948290RCV002561390

NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser) SNV
Germline
Chr11:20636309 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921538 rs_555858151

3 SubmittersRCV002022699RCV004970757

NM_004211.5(SLC6A5):c.90C>A (p.Cys30Ter) SNV
Germline
Chr11:20601215 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA5920993 rs_186704689

1 SubmittersRCV001958731

NM_004211.5(SLC6A5):c.2124C>A (p.Tyr708Ter) SNV
Germline
Chr11:20652342 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA5921699 rs_755040627

1 SubmittersRCV001863615

NM_004211.5(SLC6A5):c.1948G>A (p.Val650Met) SNV
Germline
Chr11:20638537 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921631 rs_143967107

2 SubmittersRCV001968675RCV004044476

NM_004211.5(SLC6A5):c.1621C>T (p.Gln541Ter) SNV
Germline
Chr11:20630812 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA218741080 rs_931802079

1 SubmittersRCV001962839

NM_004211.5(SLC6A5):c.1641T>G (p.Phe547Leu) SNV
Germline
Chr11:20636323 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379917846 rs_2133808393

1 SubmittersRCV001957023

NM_004211.5(SLC6A5):c.2125C>T (p.Arg709Cys) SNV
Germline
Chr11:20652343 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921700 rs_151244472

2 SubmittersRCV002155817RCV003081060

NM_004211.5(SLC6A5):c.1007A>C (p.His336Pro) SNV
Germline
Chr11:20614700 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921286 rs_753404579

2 SubmittersRCV002146774RCV003025447

NM_004211.5(SLC6A5):c.2290C>G (p.Gln764Glu) SNV
Germline
Chr11:20654764 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA5921756 rs_753956513

2 SubmittersRCV002155730

NM_004211.5(SLC6A5):c.1696A>G (p.Ile566Val) SNV
Germline
Chr11:20636378 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921551 rs_200003617

2 SubmittersRCV002198963RCV004047159

NM_004211.5(SLC6A5):c.1046C>T (p.Thr349Ile) SNV
Germline
Chr11:20614739 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921294 rs_201604337

2 SubmittersRCV002082754RCV003269123

NM_004211.5(SLC6A5):c.1048G>A (p.Ala350Thr) SNV
Germline
Chr11:20614741 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921298 rs_759580965

2 SubmittersRCV002113418RCV005281131

NM_004211.5(SLC6A5):c.419C>A (p.Thr140Asn) SNV
Germline
Chr11:20601544 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921078 rs_144285788

2 SubmittersRCV002148475RCV003070642

NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu) SNV
Germline
Chr11:20626733 Pathogenic Hyperekplexia 3 Criteria Provided
Multiple Submitters
No Conflicts
CA5921398 rs_745539706

2 SubmittersRCV003071720

NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser) SNV
Germline
Chr11:20636333 Conflicting classifications of pathogenicity Hyperekplexia 3 Criteria Provided
Conflicting Classifications
CA5921540 rs_781330809

2 SubmittersRCV003081836

NM_004211.5(SLC6A5):c.728C>G (p.Pro243Arg) SNV
Germline
Chr11:20607055 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379913733 rs_1254431908

1 SubmittersRCV002631618

NM_004211.5(SLC6A5):c.811+1G>T SNV
Germline
Chr11:20607139 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379913908 rs_2494105581

1 SubmittersRCV002760611

NM_004211.5(SLC6A5):c.985+1G>A SNV
Germline
Chr11:20607653 Likely pathogenic Hyperekplexia 3
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA379914693 rs_1251099671

2 SubmittersRCV002806522RCV005433887

NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter) SNV
Germline
Chr11:20607096 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379913822 rs_2494105360

1 SubmittersRCV002846749

NM_004211.5(SLC6A5):c.1969+1G>A SNV
Germline
Chr11:20638559 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA5921638 rs_373223627

1 SubmittersRCV002982705

NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter) SNV
Germline
Chr11:20626821 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379917102 rs_912922347

1 SubmittersRCV003007800

NM_004211.5(SLC6A5):c.3+1G>T SNV
Germline
Chr11:20599676 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379910268 rs_754519573

1 SubmittersRCV002976089

NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg) SNV
Germline
Chr11:20604413 Conflicting classifications of pathogenicity Inborn genetic diseases
Hyperekplexia 3
Criteria Provided
Conflicting Classifications
CA5921153 rs_752971854

2 SubmittersRCV002749203RCV003645938

NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter) SNV
Germline
Chr11:20601156 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379910537 rs_2494092557

1 SubmittersRCV003646670

NM_004211.5(SLC6A5):c.2070+2T>G SNV
Germline
Chr11:20646936 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379919715 rs_2133819352

1 SubmittersRCV003646690

NM_004211.5(SLC6A5):c.680-2A>G SNV
Germline
Chr11:20607005 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA5921175 rs_543949463

1 SubmittersRCV003646729

NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn) SNV
Germline
Chr11:20654767 Conflicting classifications of pathogenicity Hyperekplexia 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5921757 rs_762850669

2 SubmittersRCV003647221RCV004374352

NM_004211.5(SLC6A5):c.811+1G>A SNV
Germline
Chr11:20607139 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter
CA379913906 rs_2494105581

1 SubmittersRCV003990723

NM_004211.5(SLC6A5):c.2071-1G>A SNV
Germline
Chr11:20652288 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005085927

NM_004211.5(SLC6A5):c.3+2T>C SNV
Germline
Chr11:20599677 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005127040

NM_004211.5(SLC6A5):c.1624+2T>C SNV
Germline
Chr11:20630817 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005152488

NM_004211.5(SLC6A5):c.1738-1G>C SNV
Germline
Chr11:20637171 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005154514

NM_004211.5(SLC6A5):c.1966T>C (p.Tyr656His) SNV
Germline
Chr11:20638555 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV005200878

NM_004211.5(SLC6A5):c.1917T>A (p.Tyr639Ter) SNV
Germline
Chr11:20638506 Pathogenic Hyperekplexia 3 No Assertion Criteria Provided

1 SubmittersRCV005637940

NM_004211.5(SLC6A5):c.621C>G (p.Tyr207Ter) SNV
Germline
Chr11:20604366 Pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV006498186

NM_004211.5(SLC6A5):c.1625-2A>G SNV
Germline
Chr11:20636305 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV006501328

NM_004211.5(SLC6A5):c.1967A>G (p.Tyr656Cys) SNV
Germline
Chr11:20638556 Likely pathogenic Hyperekplexia 3 Criteria Provided
Single Submitter

1 SubmittersRCV006544177