Total 294 pathogenic variants reported for Biotinidase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) SNV
Germline
Chr3:15645451 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA278009 rs_104893688

21 SubmittersRCV000001974RCV000185809RCV004601086RCV004751190

NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) SNV
Germline
Chr3:15645468 Pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA220320 rs_80338686

18 SubmittersRCV000001975RCV000790794RCV003242960RCV003421895

NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) SNV
Germline
Chr3:15635479 Pathogenic/Likely pathogenic Biotinidase deficiency
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA278010 rs_119103232

10 SubmittersRCV000001976RCV004751191

NM_001370658.1(BTD):c.1270G>C (p.Asp424His) SNV
Germline
Chr3:15645186 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA090886 rs_13078881

52 SubmittersRCV000001977RCV000078064RCV002381235RCV004751192

NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) SNV
Germline
Chr3:15644611 Pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278012 rs_28934601

8 SubmittersRCV000001978RCV000445043

NM_001370658.1(BTD):c.1308A>C (p.Gln436His) SNV
Germline
Chr3:15645224 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Intellectual disability
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA285304 rs_80338685

32 SubmittersRCV000001979RCV000078065RCV001251700RCV004018539RCV004751193

NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) SNV
Germline
Chr3:15645322 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA278014 rs_104893692

5 SubmittersRCV000001980RCV002272006RCV003230341

NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) SNV
Germline
Chr3:15645063 Conflicting classifications of pathogenicity; other Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA312373 rs_104893686

9 SubmittersRCV000501861RCV000727665

NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) SNV
Germline
Chr3:15635614 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278016 rs_104893687

9 SubmittersRCV000001982RCV001815158

NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) SNV
Unknown
Chr3:15645013 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
rs_397514401

1 SubmittersRCV004575471

NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) SNV
Germline
Chr3:15635512 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Condition: not provided
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA241269 rs_34885143

13 SubmittersRCV000021888RCV000185799RCV000724323RCV003974849

NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) SNV
Germline
Chr3:15645127 Pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA278318 rs_397514335

6 SubmittersRCV002214276RCV003475304

NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) SNV
Germline
Chr3:15635515 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278146 rs_397514336

2 SubmittersRCV003474466

NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) SNV
Germline
Chr3:15635550 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278148 rs_397514339

2 SubmittersRCV003474461

NM_001370658.1(BTD):c.134A>G (p.His45Arg) SNV
Germline
Chr3:15635573 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
rs_397514341

1 SubmittersRCV005198251

NM_001370658.1(BTD):c.185C>T (p.Ala62Val) SNV
Germline
Chr3:15635624 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA278170 rs_397507171

6 SubmittersRCV000021907RCV001171830RCV001800312

NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) SNV
Germline
Chr3:15635627 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278175 rs_397514347

2 SubmittersRCV000021909

NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) SNV
Unknown
Chr3:15635641 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278177 rs_151071780

1 SubmittersRCV003474470

NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) SNV
Germline
Chr3:15635657 Pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278179 rs_397514348

6 SubmittersRCV000021911RCV004584595

NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) SNV
Germline
Chr3:15635677 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278181 rs_397514350

2 SubmittersRCV002651644

NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) SNV
Germline
Chr3:15641932 Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278187 rs_397514352

3 SubmittersRCV000021916RCV000759006

NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) SNV
Germline
Chr3:15641932 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278189 rs_397514352

2 SubmittersRCV003499922

NM_001370658.1(BTD):c.281G>T (p.Gly94Val) SNV
Germline
Chr3:15641939 Pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA278191 rs_375712490

9 SubmittersRCV000021918RCV000759007RCV002513162

NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) SNV
Germline
Chr3:15641962 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA278195 rs_397514354

4 SubmittersRCV000021920RCV000755882RCV005237401

NM_001370658.1(BTD):c.322T>G (p.Phe108Val) SNV
Germline
Chr3:15641980 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA278197 rs_397514355

2 SubmittersRCV003474459

NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) SNV
Germline
Chr3:15642022 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA278199 rs_397514357

7 SubmittersRCV000021923RCV000438885RCV001266904RCV003904859

NM_001370658.1(BTD):c.383G>A (p.Arg128His) SNV
Germline
Chr3:15642041 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA278201 rs_367902696

8 SubmittersRCV000021924RCV000490188RCV003226165RCV002513163

NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) SNV
Germline
Chr3:15642043 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278206 rs_397514359

3 SubmittersRCV000021926RCV004700264

NM_001370658.1(BTD):c.399G>A (p.Glu133=) SNV
Germline
Chr3:15642057 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278210 rs_397514360

6 SubmittersRCV000021928RCV000425369

NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) SNV
Germline
Chr3:15644322 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278213 rs_397514362

4 SubmittersRCV000021930

NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) SNV
Germline
Chr3:15644325 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278215 rs_397514363

5 SubmittersRCV000021931RCV000414201

NM_001370658.1(BTD):c.425C>T (p.Ala142Val) SNV
Germline
Chr3:15644341 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278217 rs_397514364

5 SubmittersRCV000021934

NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) SNV
Germline
Chr3:15644367 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA285305 rs_13073139

24 SubmittersRCV000031859RCV000078073RCV002514126

NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) SNV
Germline
Chr3:15644384 Pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA220325 rs_397514367

11 SubmittersRCV000021938RCV000078074RCV000623242

NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) SNV
Germline
Chr3:15644413 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA220327 rs_397514369

9 SubmittersRCV000021940RCV000790752

NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) SNV
Germline
Chr3:15644439 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA278225 rs_397514370

6 SubmittersRCV000021942RCV000727575RCV002298448

NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) SNV
Germline
Chr3:15644440 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278227 rs_397514371

1 SubmittersRCV002664294

NM_001370658.1(BTD):c.535G>A (p.Val179Met) SNV
Germline
Chr3:15644451 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA278235 rs_397514375

12 SubmittersRCV000021947RCV000985649RCV003415728

NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) SNV
Germline
Chr3:15644461 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA278237 rs_397514376

5 SubmittersRCV002966879

NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) SNV
Germline
Chr3:15644487 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA278241 rs_372844636

7 SubmittersRCV000021950RCV000508413

NM_001370658.1(BTD):c.572G>A (p.Arg191His) SNV
Germline
Chr3:15644488 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA220331 rs_112195009

7 SubmittersRCV000021951RCV000078077RCV004751220

NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) SNV
Germline
Chr3:15644497 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA278395 rs_397514377

8 SubmittersRCV000032022RCV000520641

NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) SNV
Germline
Chr3:15644499 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278243 rs_190386869

6 SubmittersRCV000021953

NM_001370658.1(BTD):c.585C>T (p.Leu195=) SNV
Germline
Chr3:15644501 Conflicting classifications of pathogenicity not specified
Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA145713 rs_145388314

8 SubmittersRCV000078078RCV000021954RCV000755881

NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) SNV
Germline
Chr3:15644510 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278247 rs_397514379

3 SubmittersRCV003474454

NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) SNV
Germline
Chr3:15644538 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA278249 rs_397514380

5 SubmittersRCV000185805RCV003473119

NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) SNV
Germline
Chr3:15644565 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278250 rs_397514381

3 SubmittersRCV000021958

NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) SNV
Germline
Chr3:15644599 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278254 rs_397514382

7 SubmittersRCV000021960RCV001284605

NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) SNV
Germline
Chr3:15644613 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278256 rs_397514383

5 SubmittersRCV000021961

NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) SNV
Germline
Chr3:15644620 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278258 rs_397514384

6 SubmittersRCV000021962

NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) SNV
Germline
Chr3:15644670 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278262 rs_397514387

3 SubmittersRCV000021965

NM_001370658.1(BTD):c.772C>G (p.Leu258Val) SNV
Germline
Chr3:15644688 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278264 rs_397514388

2 SubmittersRCV000021966

NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) SNV
Germline
Chr3:15644689 Pathogenic/Likely pathogenic Biotinidase deficiency
Intellectual disability
Criteria Provided
Multiple Submitters
No Conflicts
CA278266 rs_397514389

6 SubmittersRCV000021967RCV001251702

NM_001370658.1(BTD):c.827T>G (p.Val276Gly) SNV
Germline
Chr3:15644743 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278272 rs_397514391

3 SubmittersRCV001310478RCV003497832RCV003323364

NM_001370658.1(BTD):c.836C>T (p.Ala279Val) SNV
Germline
Chr3:15644752 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278274 rs_397514392

2 SubmittersRCV003499927RCV005407184

NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) SNV
Germline
Chr3:15644785 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278276 rs_397514393

1 SubmittersRCV003499928

NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) SNV
Germline
Chr3:15644788 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
rs_397514394

2 SubmittersRCV005139558

NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) SNV
Germline
Chr3:15644791 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278285 rs_377651057

3 SubmittersRCV000021977RCV004700265

NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) SNV
Germline
Chr3:15645190 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278330 rs_397514402

6 SubmittersRCV000022007RCV000985644

NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) SNV
Germline
Chr3:15645070 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278302 rs_397514406

1 SubmittersRCV002651648

NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) SNV
Germline
Chr3:15645108 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278305 rs_397514408

5 SubmittersRCV000021994

NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) SNV
Germline
Chr3:15645109 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278309 rs_397514410

5 SubmittersRCV000021996

NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) SNV
Germline
Chr3:15645123 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278312 rs_397514412

6 SubmittersRCV000021998RCV002477004

NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) SNV
Germline
Chr3:15645127 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278316 rs_397514335

3 SubmittersRCV000022000RCV000493447

NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) SNV
Germline
Chr3:15645169 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278324 rs_397514415

1 SubmittersRCV002651649

NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) SNV
Germline
Chr3:15645170 Pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278326 rs_397514416

4 SubmittersRCV000022005RCV002281043

NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) SNV
Germline
Chr3:15645195 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278332 rs_397514418

4 SubmittersRCV000022008

NM_001370658.1(BTD):c.1309G>A (p.Val437Met) SNV
Germline
Chr3:15645225 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278335 rs_146600671

1 SubmittersRCV002651650

NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) SNV
Germline
Chr3:15645288 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278340 rs_181396238

4 SubmittersRCV000022014RCV000484254

NM_001370658.1(BTD):c.1395C>G (p.His465Gln) SNV
Germline
Chr3:15645311 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA278342 rs_201604102

8 SubmittersRCV000022015RCV002477005RCV002513165

NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) SNV
Germline
Chr3:15645315 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA278344 rs_397514422

2 SubmittersRCV000434827RCV005089295

NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) SNV
Germline
Chr3:15645345 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA220317 rs_138818907

15 SubmittersRCV000022019RCV000078068

NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) SNV
Germline
Chr3:15645387 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA278352 rs_397514427

4 SubmittersRCV000022022

NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) SNV
Germline
Chr3:15645466 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278354 rs_397514428

1 SubmittersRCV003499930

NM_001370658.1(BTD):c.1553G>A (p.Arg518His) SNV
Germline
Chr3:15645469 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278356 rs_397514429

7 SubmittersRCV000022024RCV004589521

NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) SNV
Germline
Chr3:15645475 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278359 rs_397514431

2 SubmittersRCV000022026

NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) SNV
Germline
Chr3:15645485 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA220321 rs_146136265

10 SubmittersRCV000022028RCV000078071

NM_001370658.1(BTD):c.604G>C (p.Asp202His) SNV
Germline
Chr3:15644520 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA278366 rs_200337373

1 SubmittersRCV003499923

NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) SNV
Germline
Chr3:15644857 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278368 rs_397514433

2 SubmittersRCV002651647RCV005406616

NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) SNV
Germline
Chr3:15645288 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA278372 rs_181396238

7 SubmittersRCV000022034RCV002271373RCV001266891RCV003476902

NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) SNV
Germline
Chr3:15644485 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278239 rs_397507174

4 SubmittersRCV000021949RCV000724129

NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) SNV
Germline
Chr3:15644415 Conflicting classifications of pathogenicity not specified
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
rs_397507173

3 SubmittersRCV004699969RCV005023650

NM_001370658.1(BTD):c.908A>G (p.His303Arg) SNV
Germline
Chr3:15644824 Conflicting classifications of pathogenicity Biotinidase deficiency
Inborn genetic diseases
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA220339 rs_397507176

14 SubmittersRCV000021978RCV000622271RCV000723564RCV002298452

NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) SNV
Germline
Chr3:15644590 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA278252 rs_397507175

6 SubmittersRCV000021959RCV000724643

NM_001370658.1(BTD):c.410G>A (p.Arg137His) SNV
Germline
Chr3:15644326 Pathogenic Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA220323 rs_146015592

12 SubmittersRCV000021904RCV000078072RCV005532573

NM_001370658.1(BTD):c.124G>A (p.Val42Met) SNV
Germline
Chr3:15635563 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278152 rs_397507170

7 SubmittersRCV000021895

NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) SNV
Germline
Chr3:15644721 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA081769 rs_397514334

1 SubmittersRCV001975221

NM_001370658.1(BTD):c.176G>A (p.Arg59His) SNV
Germline
Chr3:15635615 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA278166 rs_397514343

7 SubmittersRCV000021905RCV003125847RCV003993755

NM_001370658.1(BTD):c.68A>G (p.His23Arg) SNV
Germline
Chr3:15635507 Conflicting classifications of pathogenicity Biotinidase deficiency
Intellectual disability
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA278364 rs_146011150

7 SubmittersRCV000022030RCV001251701RCV002513289

NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) SNV
Germline
Chr3:15635591 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278161 rs_397514333

6 SubmittersRCV000021900RCV000427971

NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) SNV
Germline
Chr3:15645014 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278383 rs_397514434

3 SubmittersRCV000032015

NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) SNV
Germline
Chr3:15635571 Pathogenic Biotinidase deficiency
not specified
Criteria Provided
Multiple Submitters
No Conflicts
CA278386 rs_397514436

2 SubmittersRCV000032017RCV000506513

NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) SNV
Germline
Chr3:15644614 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278390 rs_397514438

2 SubmittersRCV003499925RCV005240824

NM_001370658.1(BTD):c.566G>A (p.Arg189His) SNV
Germline
Chr3:15644482 Pathogenic/Likely pathogenic Biotinidase deficiency
Condition: not provided
BTD-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA220329 rs_398123139

11 SubmittersRCV000144058RCV000507456RCV003905037

NM_001370658.1(BTD):c.197T>G (p.Met66Arg) SNV
Germline
Chr3:15635636 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA278433 rs_587783002

4 SubmittersRCV000144056RCV003323415

NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) SNV
Germline
Chr3:15642053 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA278435 rs_587783003

3 SubmittersRCV000144057RCV000985647

NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) SNV
Germline
Chr3:15644539 Pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA278437 rs_587783004

1 SubmittersRCV000144059

NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) SNV
Germline
Chr3:15644557 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA278439 rs_587783005

8 SubmittersRCV000144060

NM_001370658.1(BTD):c.838A>C (p.Asn280His) SNV
Germline
Chr3:15644754 Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA278441 rs_587783006

2 SubmittersRCV000144061RCV000494587

NM_001370658.1(BTD):c.339G>A (p.Pro113=) SNV
Germline
Chr3:15641997 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA243087 rs_181743799

3 SubmittersRCV000176974RCV000714993

NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) SNV
Germline
Chr3:15645331 Conflicting classifications of pathogenicity Biotinidase deficiency
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA312371 rs_1553654190

2 SubmittersRCV003497997RCV003414156

NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) SNV
Germline
Chr3:15645468 Pathogenic/Likely pathogenic Inborn genetic diseases
Biotinidase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA312375 rs_80338686

6 SubmittersRCV000623390RCV000409281

NM_001370658.1(BTD):c.1041C>T (p.Gly347=) SNV
Germline
Chr3:15644957 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA2277421 rs_142421934

7 SubmittersRCV000352964RCV000371736

NM_001370658.1(BTD):c.201C>T (p.Asn67=) SNV
Germline
Chr3:15635640 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2277271 rs_147057169

6 SubmittersRCV000633685RCV000726430

NM_001370658.1(BTD):c.-148C>T SNV
Germline
Chr3:15601763 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2277149 rs_774964227

3 SubmittersRCV000380207RCV001354666

NM_001370658.1(BTD):c.48C>T (p.Tyr16=) SNV
Germline
Chr3:15635487 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2277241 rs_201823743

4 SubmittersRCV000346716RCV003884503

NM_001370658.1(BTD):c.1425C>A (p.Ile475=) SNV
Germline
Chr3:15645341 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA2277480 rs_780182371

2 SubmittersRCV000270145

NM_001370658.1(BTD):c.-17+1G>A SNV
Germline
Chr3:15601895 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA16040905 rs_1057516440

4 SubmittersRCV000409752

NM_001370658.1(BTD):c.-17+1G>C SNV
Unknown
Chr3:15601895 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA16040906 rs_1057516440

1 SubmittersRCV000410337

NM_001370658.1(BTD):c.-17+1G>T SNV
Unknown
Chr3:15601895 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA16040907 rs_1057516440

1 SubmittersRCV000411884

NM_001370658.1(BTD):c.249+1G>T SNV
Germline
Chr3:15635689 Likely pathogenic Biotinidase deficiency
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA2277279 rs_373249212

4 SubmittersRCV000409760RCV005532636

NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) SNV
Germline
Chr3:15644985 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA16040911 rs_1057516252

2 SubmittersRCV000410177

NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) SNV
Germline
Chr3:15642040 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA2277309 rs_137877018

4 SubmittersRCV000414058RCV000675064

NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) SNV
Germline
Chr3:15644520 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
not specified
Intellectual disability
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2277359 rs_200337373

7 SubmittersRCV000420327RCV000675128RCV001731677RCV001251699RCV004022351

NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) SNV
Germline
Chr3:15635641 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Inborn genetic diseases
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA2277272 rs_151071780

9 SubmittersRCV000755884RCV000876680RCV002521735RCV003912709

NM_001370658.1(BTD):c.806C>T (p.Ala269Val) SNV
Germline
Chr3:15644722 Likely pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA16604827 rs_1057520533

5 SubmittersRCV000428786RCV000675056

NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) SNV
Germline
Chr3:15645162 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA2277452 rs_749460715

3 SubmittersRCV000483848RCV000675109

NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) SNV
Germline
Chr3:15645249 Likely pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Single Submitter
CA2277467 rs_746099217

2 SubmittersRCV000483575RCV000675116

NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) SNV
Germline
Chr3:15644751 Pathogenic/Likely pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA351607446 rs_1157567876

5 SubmittersRCV000508475RCV000715008

NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) SNV
Germline
Chr3:15645459 Conflicting classifications of pathogenicity not specified
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA351962544 rs_771537277

2 SubmittersRCV000505981RCV001309054

NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) SNV
Germline
Chr3:15645469 Conflicting classifications of pathogenicity not specified
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA351962560 rs_397514429

2 SubmittersRCV000506930RCV001315219

NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) SNV
Germline
Chr3:15644481 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2277351 rs_369102875

11 SubmittersRCV000537387RCV001591206RCV002527692

NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) SNV
Germline
Chr3:15645217 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA2277463 rs_397514345

11 SubmittersRCV000524591RCV001578266RCV004751584

NM_001370658.1(BTD):c.1536G>A (p.Thr512=) SNV
Germline
Chr3:15645452 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA2277499 rs_774052068

4 SubmittersRCV000597261RCV000801863RCV003962699

NM_001370658.1(BTD):c.239C>T (p.Ala80Val) SNV
Germline
Chr3:15635678 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA351604172 rs_1553652171

3 SubmittersRCV000673777RCV003117479

NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) SNV
Germline
Chr3:15641914 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351605034 rs_1553653062

3 SubmittersRCV000669656

NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) SNV
Germline
Chr3:15642018 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351605672 rs_1306944669

3 SubmittersRCV000672734

NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) SNV
Germline
Chr3:15644941 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA2277419 rs_747548016

2 SubmittersRCV000665777

NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) SNV
Germline
Chr3:15644982 Likely pathogenic Biotinidase deficiency
Condition: not provided
Criteria Provided
Single Submitter
CA351608129 rs_760612966

2 SubmittersRCV000667458RCV003456422

NM_001370658.1(BTD):c.*159G>A SNV
Germline
Chr3:15645647 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA70623461 rs_530872564

5 SubmittersRCV000671749RCV002298730RCV003945702

NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) SNV
Germline
Chr3:15645225 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351608653 rs_146600671

2 SubmittersRCV000665732

NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) SNV
Germline
Chr3:15645295 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
BTD-related disorder
Criteria Provided
Conflicting Classifications
CA2277476 rs_558477960

7 SubmittersRCV000664856RCV001355022RCV004751654

NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) SNV
Unknown
Chr3:15645316 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA351608938 rs_1277029090

1 SubmittersRCV000672288

NM_001370658.1(BTD):c.250-1G>T SNV
Unknown
Chr3:15641907 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA351605014 rs_1553653053

1 SubmittersRCV000666795

NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) SNV
Germline
Chr3:15645190 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351608570 rs_397514402

2 SubmittersRCV000672281

NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) SNV
Germline
Chr3:15644335 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA2277336 rs_745343884

2 SubmittersRCV000693060RCV004689858

NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) SNV
Germline
Chr3:15644438 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351606482 rs_750363004

3 SubmittersRCV000714997

NM_001370658.1(BTD):c.710T>A (p.Val237Asp) SNV
Germline
Chr3:15644626 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA351607167 rs_1190721481

2 SubmittersRCV003499926RCV004801364

NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) SNV
Germline
Chr3:15644671 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA70622203 rs_148031701

2 SubmittersRCV003155628

NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) SNV
Unknown
Chr3:15645382 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351962383 rs_1559601041

1 SubmittersRCV003474468

NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) SNV
Germline
Chr3:15645484 Conflicting classifications of pathogenicity not specified
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA70623352 rs_1050035768

2 SubmittersRCV003230963RCV003475551

NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) SNV
Germline
Chr3:15645303 Pathogenic/Likely pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA351608885 rs_1559600871

3 SubmittersRCV000755883RCV001065482

NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) SNV
Germline
Chr3:15645484 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351962593 rs_1050035768

2 SubmittersRCV000985098

NM_001370658.1(BTD):c.265G>C (p.Val89Leu) SNV
Germline
Chr3:15641923 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA2277295 rs_372416959

3 SubmittersRCV000985645RCV003769290RCV005408115

NM_001370658.1(BTD):c.262A>G (p.Ile88Val) SNV
Germline
Chr3:15641920 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA70619149 rs_976185636

3 SubmittersRCV000987130RCV001844252

NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) SNV
Germline
Chr3:15644412 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA70621546 rs_955385869

2 SubmittersRCV000987131

NM_001370658.1(BTD):c.705C>G (p.Ile235Met) SNV
Unknown
Chr3:15644621 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351607143 rs_1575029719

1 SubmittersRCV000987132

NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) SNV
Unknown
Chr3:15645381 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351962379 rs_1344607767

1 SubmittersRCV000987134

NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) SNV
Germline
Chr3:15645175 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA351608540 rs_1575031012

2 SubmittersRCV000998009RCV003444022

NM_001370658.1(BTD):c.249+1G>A SNV
Unknown
Chr3:15635689 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA2277278 rs_373249212

1 SubmittersRCV001195863

NM_001370658.1(BTD):c.1021T>G (p.Phe341Val) SNV
Germline
Chr3:15644937 Pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA351608028 rs_1204990361

1 SubmittersRCV001251432

NM_001370658.1(BTD):c.1541C>T (p.Ala514Val) SNV
Germline
Chr3:15645457 Pathogenic Biotinidase deficiency No Assertion Criteria Provided
CA351962542 rs_1210441433

1 SubmittersRCV001251433

NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) SNV
Germline
Chr3:15645459 Conflicting classifications of pathogenicity Condition: not provided
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA2277502 rs_771537277

4 SubmittersRCV001284604RCV001871662

NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) SNV
Germline
Chr3:15644412 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606362 rs_955385869

1 SubmittersRCV001299844

NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) SNV
Germline
Chr3:15644598 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351607039 rs_398123140

1 SubmittersRCV001301669

NM_001370658.1(BTD):c.751G>T (p.Ala251Ser) SNV
Germline
Chr3:15644667 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2277381 rs_144575084

2 SubmittersRCV001327642RCV001800982

NM_001370658.1(BTD):c.-17+2T>C SNV
Germline
Chr3:15601896 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA2277187 rs_745648160

5 SubmittersRCV001379913

NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) SNV
Germline
Chr3:15642017 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351605664 rs_2125486425

3 SubmittersRCV001381017

NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) SNV
Germline
Chr3:15644332 Conflicting classifications of pathogenicity Biotinidase deficiency Criteria Provided
Conflicting Classifications
CA2277335 rs_144717999

5 SubmittersRCV001619776

NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) SNV
Germline
Chr3:15644340 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606186 rs_2125500236

1 SubmittersRCV001845039

NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) SNV
Germline
Chr3:15645187 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351608564 rs_2065662435

1 SubmittersRCV001904240

NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter) SNV
Germline
Chr3:15644432 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA2277342 rs_766476582

2 SubmittersRCV001928662

NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter) SNV
Germline
Chr3:15644504 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606752 rs_2065635815

1 SubmittersRCV001916129

NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) SNV
Germline
Chr3:15641978 Conflicting classifications of pathogenicity Biotinidase deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2277301 rs_575787457

4 SubmittersRCV001977408RCV005623464

NM_001370658.1(BTD):c.675C>A (p.Cys225Ter) SNV
Germline
Chr3:15644591 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351607003 rs_767518580

1 SubmittersRCV002466297

NM_001370658.1(BTD):c.550G>A (p.Gly184Arg) SNV
Germline
Chr3:15644466 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606608 rs_2471510851

2 SubmittersRCV002281633

NM_001370658.1(BTD):c.249+2C>G SNV
Germline
Chr3:15635690 Pathogenic Condition: not provided
Biotinidase deficiency
Criteria Provided
Single Submitter
CA351604235 rs_2471443659

2 SubmittersRCV002293082RCV005416042

NM_001370658.1(BTD):c.220G>T (p.Glu74Ter) SNV
Unknown
Chr3:15635659 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351604070 rs_2065328619

1 SubmittersRCV002310397

NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp) SNV
Germline
Chr3:15645216 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA2277462 rs_200507575

1 SubmittersRCV003061466

NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr) SNV
Germline
Chr3:15644335 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA70621447 rs_745343884

3 SubmittersRCV002664293

NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp) SNV
Germline
Chr3:15645172 Pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351608535 rs_779141922

3 SubmittersRCV002664295

NM_001370658.1(BTD):c.346C>T (p.Gln116Ter) SNV
Germline
Chr3:15642004 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351605583 rs_2471489744

1 SubmittersRCV002586446

NM_001370658.1(BTD):c.399+2T>G SNV
Germline
Chr3:15642059 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351605899 rs_2471491093

1 SubmittersRCV002870804

NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter) SNV
Germline
Chr3:15635487 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351602822 rs_201823743

1 SubmittersRCV002943555

NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly) SNV
Germline
Chr3:15645262 Conflicting classifications of pathogenicity Inborn genetic diseases
Biotinidase deficiency
Criteria Provided
Conflicting Classifications
CA2277471 rs_369316343

2 SubmittersRCV002963063RCV002963062

NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe) SNV
Unknown
Chr3:15645268 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351608802 rs_773350924

1 SubmittersRCV003233062

NM_001370658.1(BTD):c.466A>T (p.Lys156Ter) SNV
Unknown
Chr3:15644382 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606278 rs_2471509696

1 SubmittersRCV003474457

NM_001370658.1(BTD):c.946C>T (p.Gln316Ter) SNV
Germline
Chr3:15644862 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351607733 rs_1303877451

4 SubmittersRCV003474462

NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser) SNV
Germline
Chr3:15645322 Pathogenic/Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351608966 rs_104893692

2 SubmittersRCV003474464

NM_001370658.1(BTD):c.59T>C (p.Leu20Pro) SNV
Germline
Chr3:15635498 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts
CA351602844 rs_2471439603

3 SubmittersRCV003486506

NM_001370658.1(BTD):c.229G>A (p.Val77Met) SNV
Germline
Chr3:15635668 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351604118 rs_1559592900

1 SubmittersRCV003499921

NM_001370658.1(BTD):c.671C>T (p.Thr224Ile) SNV
Germline
Chr3:15644587 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606988 rs_2471512475

1 SubmittersRCV003499924

NM_001370658.1(BTD):c.1137G>A (p.Met379Ile) SNV
Germline
Chr3:15645053 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA351608292 rs_2471518320

2 SubmittersRCV003499929RCV004526995

NM_001370658.1(BTD):c.1252T>C (p.Tyr418His) SNV
Germline
Chr3:15645168 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA351608527 rs_1279500513

2 SubmittersRCV003497656RCV005407193

NM_001370658.1(BTD):c.419G>C (p.Cys140Ser) SNV
Germline
Chr3:15644335 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606173 rs_745343884

1 SubmittersRCV003600609

NM_001370658.1(BTD):c.875G>T (p.Gly292Val) SNV
Germline
Chr3:15644791 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351607526 rs_377651057

1 SubmittersRCV003600684

NM_001370658.1(BTD):c.364C>T (p.Pro122Ser) SNV
Germline
Chr3:15642022 Conflicting classifications of pathogenicity Biotinidase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA351605708 rs_397514357

2 SubmittersRCV003602127RCV005419678

NM_001370658.1(BTD):c.640A>G (p.Thr214Ala) SNV
Germline
Chr3:15644556 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351606862 rs_2471511997

1 SubmittersRCV003602392

NM_001370658.1(BTD):c.881A>T (p.His294Leu) SNV
Germline
Chr3:15644797 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351607539 rs_1553653888

1 SubmittersRCV003600057

NM_001370658.1(BTD):c.125T>C (p.Val42Ala) SNV
Germline
Chr3:15635564 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA2277257 rs_780281959

1 SubmittersRCV003601990

NM_001370658.1(BTD):c.253G>A (p.Val85Ile) SNV
Germline
Chr3:15641911 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
CA351605022 rs_1385213836

1 SubmittersRCV003879243

NM_001370658.1(BTD):c.906C>G (p.Tyr302Ter) SNV
Unknown
Chr3:15644822 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter
rs_746332288

1 SubmittersRCV004575473

NM_001370658.1(BTD):c.1280A>G (p.His427Arg) SNV
Germline
Chr3:15645196 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004783550

NM_001370658.1(BTD):c.3G>A (p.Met1Ile) SNV
Germline
Chr3:15635442 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005035052

NM_001370658.1(BTD):c.570C>A (p.Tyr190Ter) SNV
Germline
Chr3:15644486 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005031310

NM_001370658.1(BTD):c.782C>T (p.Ala261Val) SNV
Germline
Chr3:15644698 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005031311

NM_001370658.1(BTD):c.1270G>T (p.Asp424Tyr) SNV
Germline
Chr3:15645186 Likely pathogenic Biotinidase deficiency Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005031315

NM_001370658.1(BTD):c.250-1G>A SNV
Germline
Chr3:15641907 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005117303

NM_001370658.1(BTD):c.311C>T (p.Ser104Phe) SNV
Germline
Chr3:15641969 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005169207

NM_001370658.1(BTD):c.845A>G (p.His282Arg) SNV
Germline
Chr3:15644761 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005202430

NM_001370658.1(BTD):c.190G>A (p.Glu64Lys) SNV
Unknown
Chr3:15635629 Pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005232600

NM_001370658.1(BTD):c.1167G>A (p.Trp389Ter) SNV
Germline
Chr3:15645083 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005413391

NM_001370658.1(BTD):c.1215T>A (p.Tyr405Ter) SNV
Germline
Chr3:15645131 Pathogenic Biotinidase deficiency No Assertion Criteria Provided

1 SubmittersRCV005416057

NM_001370658.1(BTD):c.1243A>T (p.Lys415Ter) SNV
Germline
Chr3:15645159 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided

1 SubmittersRCV005416058

NM_001370658.1(BTD):c.250-2A>G SNV
Germline
Chr3:15641906 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided

1 SubmittersRCV005416059

NM_001370658.1(BTD):c.-16-2A>C SNV
Germline
Chr3:15635422 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided

1 SubmittersRCV005416061

NM_001370658.1(BTD):c.763C>T (p.Gln255Ter) SNV
Germline
Chr3:15644679 Likely pathogenic Biotinidase deficiency No Assertion Criteria Provided

1 SubmittersRCV005416064

NM_001370658.1(BTD):c.404T>C (p.Leu135Pro) SNV
Germline
Chr3:15644320 Likely pathogenic Biotinidase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005431245