Total 113 pathogenic variants reported for Biotin-responsive basal ganglia disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) SNV
Germline
Chr2:227702251 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA253226 rs_121917882

13 SubmittersRCV000004824RCV001310775RCV003242961

NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) SNV
Germline
Chr2:227688216 Pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Inborn genetic diseases
Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type)
Criteria Provided
Multiple Submitters
No Conflicts
CA253227 rs_121917884

13 SubmittersRCV000004825RCV000489300RCV002512775RCV004527286

NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu) SNV
Germline
Chr2:227702189 Pathogenic Biotin-responsive basal ganglia disease No Assertion Criteria Provided
CA253228 rs_137852957

1 SubmittersRCV000004827

NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln) SNV
Germline
Chr2:227698757 Pathogenic Biotin-responsive basal ganglia disease No Assertion Criteria Provided
CA253230 rs_137852958

1 SubmittersRCV000004828

NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) SNV
Germline
Chr2:227702299 Pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Single Submitter
CA273053 rs_713993048

2 SubmittersRCV000149551RCV001310776

NM_025243.4(SLC19A3):c.*8G>A SNV
Germline
Chr2:227687389 Conflicting classifications of pathogenicity not specified
Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA246821 rs_188532608

5 SubmittersRCV000198795RCV000319079RCV000724036

NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) SNV
Germline
Chr2:227695907 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications
CA323377 rs_563607795

2 SubmittersRCV000294366

NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) SNV
Germline
Chr2:227695949 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA320642 rs_142166552

6 SubmittersRCV000624942RCV000676548

NM_025243.4(SLC19A3):c.662A>C (p.His221Pro) SNV
Germline
Chr2:227699053 Conflicting classifications of pathogenicity not specified
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA321122 rs_863224203

2 SubmittersRCV000196692RCV002515432

NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) SNV
Germline
Chr2:227699094 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
SLC19A3-related disorder
Criteria Provided
Conflicting Classifications
CA324112 rs_145804755

10 SubmittersRCV000415854RCV000530460RCV003955195

NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) SNV
Germline
Chr2:227699158 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA322152 rs_116533505

2 SubmittersRCV000539133RCV001722096

NM_025243.4(SLC19A3):c.1314+1G>A SNV
Germline
Chr2:227688165 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149110 rs_141957107

3 SubmittersRCV000255502RCV001368943

NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) SNV
Germline
Chr2:227698914 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
SLC19A3-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA2149230 rs_147205930

8 SubmittersRCV000724904RCV001084366RCV003930046RCV006445640

NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) SNV
Germline
Chr2:227699390 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2149332 rs_780569649

8 SubmittersRCV000273994RCV000813702RCV005480349

NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) SNV
Germline
Chr2:227695916 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149149 rs_145288025

5 SubmittersRCV000333120RCV001085971

NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) SNV
Germline
Chr2:227699316 Conflicting classifications of pathogenicity not specified
Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149306 rs_138363524

8 SubmittersRCV000366632RCV000726481RCV001083300

NM_025243.4(SLC19A3):c.225T>C (p.Asp75=) SNV
Germline
Chr2:227699490 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA10606769 rs_886044447

2 SubmittersRCV000275775RCV002059288

NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) SNV
Germline
Chr2:227699234 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications
CA2149289 rs_375099581

2 SubmittersRCV000361560

NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) SNV
Germline
Chr2:227699102 Conflicting classifications of pathogenicity not specified
Biotin-responsive basal ganglia disease
Intellectual disability
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149257 rs_199558186

7 SubmittersRCV000443556RCV000556127RCV001251644RCV002523120RCV003311766

NM_025243.4(SLC19A3):c.390G>T (p.Val130=) SNV
Germline
Chr2:227699325 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2149308 rs_376187918

5 SubmittersRCV000547751RCV001310774RCV004999336

NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) SNV
Germline
Chr2:227699378 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2149329 rs_145999922

5 SubmittersRCV000408622RCV001546114

NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) SNV
Germline
Chr2:227688228 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
SLC19A3-related disorder
Criteria Provided
Conflicting Classifications
CA2149121 rs_368364131

5 SubmittersRCV000414665RCV001086955RCV003409576

NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg) SNV
Germline
Chr2:227688227 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA16617491 rs_1064795112

2 SubmittersRCV000482702RCV001856855

NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) SNV
Germline
Chr2:227699492 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA66660892 rs_980641322

3 SubmittersRCV000488928RCV001234509

NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val) SNV
Germline
Chr2:227698753 Pathogenic Biotin-responsive basal ganglia disease No Assertion Criteria Provided
CA350876082 rs_1282844765

1 SubmittersRCV000656116

NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg) SNV
Germline
Chr2:227698865 Pathogenic Biotin-responsive basal ganglia disease No Assertion Criteria Provided
CA350876332 rs_1553571227

1 SubmittersRCV000656117

NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) SNV
Germline
Chr2:227699450 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
not specified
Criteria Provided
Conflicting Classifications
CA2149341 rs_759807393

3 SubmittersRCV000656114RCV004782411

NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro) SNV
Germline
Chr2:227699518 Pathogenic Biotin-responsive basal ganglia disease No Assertion Criteria Provided
CA350877726 rs_1553571813

1 SubmittersRCV000656115

NM_025243.4(SLC19A3):c.980-14A>G SNV
Germline
Chr2:227696095 Pathogenic/Likely pathogenic Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Multiple Submitters
No Conflicts
CA2149183 rs_200542114

8 SubmittersRCV000514518RCV000697912

NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn) SNV
Germline
Chr2:227687518 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149087 rs_138839321

6 SubmittersRCV000533777RCV002530059RCV003105950

NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) SNV
Germline
Chr2:227699174 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA2149273 rs_773971505

2 SubmittersRCV000578309

NM_025243.4(SLC19A3):c.1173-4A>T SNV
Germline
Chr2:227688311 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2149132 rs_367737262

3 SubmittersRCV000595717RCV001085436RCV002532420

NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) SNV
Germline
Chr2:227696005 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149163 rs_149806390

5 SubmittersRCV000593122RCV001087078

NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile) SNV
Germline
Chr2:227699279 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
SLC19A3-related disorder
Criteria Provided
Conflicting Classifications
CA2149295 rs_147502239

4 SubmittersRCV000733532RCV001087388RCV003953140

NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val) SNV
Germline
Chr2:227702213 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149408 rs_372637185

3 SubmittersRCV000730839RCV001046655

NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val) SNV
Germline
Chr2:227699153 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2149270 rs_146949876

4 SubmittersRCV000732174RCV000800842RCV004027031

NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter) SNV
Germline
Chr2:227699526 Pathogenic Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Multiple Submitters
No Conflicts
CA350877742 rs_1559250774

2 SubmittersRCV000760653RCV001387186

NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) SNV
Germline
Chr2:227699167 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications
CA66660417 rs_199970847

2 SubmittersRCV000785910

NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr) SNV
Germline
Chr2:227687549 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149096 rs_754794859

3 SubmittersRCV000811380RCV001577595

NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn) SNV
Germline
Chr2:227699104 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149259 rs_773705000

2 SubmittersRCV000815888RCV002284442

NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) SNV
Germline
Chr2:227688276 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149127 rs_150523975

3 SubmittersRCV000950526RCV001558668

NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala) SNV
Germline
Chr2:227687545 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149094 rs_201544540

2 SubmittersRCV000924786RCV001664551

NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser) SNV
Germline
Chr2:227699380 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149330 rs_200971390

4 SubmittersRCV000938104RCV001564416

NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) SNV
Germline
Chr2:227698854 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications
CA2149223 rs_764867524

2 SubmittersRCV000975516

NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met) SNV
Germline
Chr2:227687447 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2149076 rs_368717276

3 SubmittersRCV001062076RCV004761915RCV005732273

NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) SNV
Germline
Chr2:227698861 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Inborn genetic diseases
SLC19A3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA2149224 rs_373198092

5 SubmittersRCV001052853RCV001819772RCV002553297RCV003898057

NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) SNV
Germline
Chr2:227698821 Pathogenic Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Multiple Submitters
No Conflicts
CA350876231 rs_1474448985

2 SubmittersRCV001093253RCV001809982

NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) SNV
Germline
Chr2:227699435 Pathogenic/Likely pathogenic Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Multiple Submitters
No Conflicts
CA350877554 rs_1695586409

3 SubmittersRCV001093254RCV001873462

NM_025243.4(SLC19A3):c.360G>A (p.Glu120=) SNV
Germline
Chr2:227699355 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications
CA2149319 rs_566837952

2 SubmittersRCV001140321

NM_025243.4(SLC19A3):c.150+2T>C SNV
Germline
Chr2:227702167 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA2149397 rs_780157041

1 SubmittersRCV001215703

NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter) SNV
Germline
Chr2:227699331 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350877331 rs_746490830

1 SubmittersRCV001226019

NM_025243.4(SLC19A3):c.1172+1G>A SNV
Germline
Chr2:227695888 Pathogenic/Likely pathogenic Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Multiple Submitters
No Conflicts
CA350875634 rs_1219632810

2 SubmittersRCV001268291RCV003502593

NM_025243.4(SLC19A3):c.1099G>A (p.Ala367Thr) SNV
Germline
Chr2:227695962 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA350875795 rs_1233252115

2 SubmittersRCV001343988RCV005278836

NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu) SNV
Germline
Chr2:227699299 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA350877257 rs_1574560025

2 SubmittersRCV001375973RCV004720883

NM_025243.4(SLC19A3):c.941T>C (p.Ile314Thr) SNV
Germline
Chr2:227698774 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2149210 rs_746794574

2 SubmittersRCV001476467RCV005622115

NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn) SNV
Germline
Chr2:227699091 Conflicting classifications of pathogenicity Condition: not provided
Biotin-responsive basal ganglia disease
Criteria Provided
Conflicting Classifications
CA2149255 rs_201274864

3 SubmittersRCV001590844RCV002579497

NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter) SNV
Germline
Chr2:227698860 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350876318 rs_1695551164

1 SubmittersRCV001939377

NM_025243.4(SLC19A3):c.1172+2T>G SNV
Germline
Chr2:227695887 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA350875631 rs_2106325851

2 SubmittersRCV002020467

NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter) SNV
Germline
Chr2:227702283 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA350878086 rs_778816786

2 SubmittersRCV001941887

NM_025243.4(SLC19A3):c.151-1G>C SNV
Germline
Chr2:227699565 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA350877829 rs_1203259286

2 SubmittersRCV002805831

NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter) SNV
Germline
Chr2:227699555 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350877807 rs_1695594361

1 SubmittersRCV002852519

NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg) SNV
Germline
Chr2:227702252 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350878018 rs_1209312070

1 SubmittersRCV002909524

NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu) SNV
Germline
Chr2:227702318 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA350878164 rs_2470581081

2 SubmittersRCV003502762

NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter) SNV
Germline
Chr2:227698920 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350876462 rs_2470572961

1 SubmittersRCV003502958

NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter) SNV
Germline
Chr2:227699208 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350877079 rs_2470573722

1 SubmittersRCV003504529

NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter) SNV
Germline
Chr2:227702307 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350878136 rs_2470581058

1 SubmittersRCV003503177

NM_025243.4(SLC19A3):c.1173-1G>A SNV
Germline
Chr2:227688308 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts
CA2149131 rs_531876613

2 SubmittersRCV003503210

NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter) SNV
Germline
Chr2:227699202 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA350877064 rs_1353757275

2 SubmittersRCV003503422RCV005861349

NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter) SNV
Germline
Chr2:227698899 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350876406 rs_2106328711

1 SubmittersRCV003611727

NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter) SNV
Germline
Chr2:227699538 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350877770 rs_2470575306

1 SubmittersRCV003613167

NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter) SNV
Germline
Chr2:227699240 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350877145 rs_2470573909

1 SubmittersRCV003613171

NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro) SNV
Germline
Chr2:227688216 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter
CA350875430 rs_121917884

1 SubmittersRCV003988722

NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp) SNV
Germline
Chr2:227699558 Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease Criteria Provided
Conflicting Classifications

2 SubmittersRCV004699956

NM_025243.4(SLC19A3):c.950G>A (p.Gly317Glu) SNV
Germline
Chr2:227698765 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV004771623

NM_025243.4(SLC19A3):c.151-2A>G SNV
Germline
Chr2:227699566 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV005024333

NM_025243.4(SLC19A3):c.35G>A (p.Trp12Ter) SNV
Germline
Chr2:227702284 Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005131839

NM_025243.4(SLC19A3):c.843G>A (p.Trp281Ter) SNV
Germline
Chr2:227698872 Pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV005121796

NM_025243.4(SLC19A3):c.1172+5G>C SNV
Germline
Chr2:227695884 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV005255263

NM_025243.4(SLC19A3):c.517A>G (p.Asn173Asp) SNV
Germline
Chr2:227699198 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV005418475

NM_025243.4(SLC19A3):c.170C>G (p.Pro57Arg) SNV
Germline
Chr2:227699545 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV006249167

NM_025243.4(SLC19A3):c.449C>T (p.Ala150Val) SNV
Germline
Chr2:227699266 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV006261884

NM_025243.4(SLC19A3):c.151-1G>A SNV
Germline
Chr2:227699565 Likely pathogenic Biotin-responsive basal ganglia disease Criteria Provided
Single Submitter

1 SubmittersRCV006530930