SLC19A3 (solute carrier family 19 member 3) - Rat Genome Database

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Gene: SLC19A3 (solute carrier family 19 member 3) Homo sapiens
Analyze
Symbol: SLC19A3
Name: solute carrier family 19 member 3
RGD ID: 1322863
HGNC Page HGNC:16266
Description: Predicted to enable thiamine transmembrane transporter activity. Involved in pyridoxine transport and thiamine transport. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in biotin-responsive basal ganglia disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BBGD; hTHTR2; solute carrier family 19 (thiamine transporter), member 3; solute carrier family 19, member 3; thiamine transporter 2; THMD2; thTr-2; THTR2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC073324.1   LOC100420667  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382227,683,763 - 227,718,028 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2227,683,763 - 227,718,028 (-)EnsemblGRCh38hg38GRCh38
GRCh372228,548,479 - 228,582,744 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,258,170 - 228,290,989 (-)NCBINCBI36Build 36hg18NCBI36
Build 342228,375,430 - 228,408,231NCBI
Celera2222,319,407 - 222,352,201 (-)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2220,392,670 - 220,425,503 (-)NCBIHuRef
CHM1_12228,556,170 - 228,588,989 (-)NCBICHM1_1
T2T-CHM13v2.02228,166,399 - 228,200,658 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA,NAS)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Effect of chronic kidney disease on the expression of thiamin and folic acid transporters. Bukhari FJ, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2137-44. doi: 10.1093/ndt/gfq675. Epub 2010 Dec 13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3060175   PMID:11136550   PMID:11731220   PMID:12477932   PMID:12861052   PMID:14770311   PMID:15217784   PMID:15328374   PMID:15489334   PMID:15623830   PMID:15815621   PMID:15871139  
PMID:16055442   PMID:16371350   PMID:16705148   PMID:16790503   PMID:17463047   PMID:19423748   PMID:19816091   PMID:20301334   PMID:20930543   PMID:21176162   PMID:21516116   PMID:21789241  
PMID:21873635   PMID:21988832   PMID:22777947   PMID:23251661   PMID:23285265   PMID:23423671   PMID:23482991   PMID:23989004   PMID:24260777   PMID:24282057   PMID:24372704   PMID:24667528  
PMID:24667918   PMID:26528626   PMID:26718501   PMID:26863430   PMID:27743994   PMID:27749535   PMID:27905264   PMID:28402605   PMID:28514442   PMID:28696212   PMID:30054086   PMID:31095747  
PMID:32238601   PMID:32296183   PMID:33008889   PMID:33961781   PMID:34614013   PMID:35512554   PMID:35724964   PMID:36456177   PMID:36964488   PMID:39358356  


Genomics

Comparative Map Data
SLC19A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382227,683,763 - 227,718,028 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2227,683,763 - 227,718,028 (-)EnsemblGRCh38hg38GRCh38
GRCh372228,548,479 - 228,582,744 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362228,258,170 - 228,290,989 (-)NCBINCBI36Build 36hg18NCBI36
Build 342228,375,430 - 228,408,231NCBI
Celera2222,319,407 - 222,352,201 (-)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2220,392,670 - 220,425,503 (-)NCBIHuRef
CHM1_12228,556,170 - 228,588,989 (-)NCBICHM1_1
T2T-CHM13v2.02228,166,399 - 228,200,658 (-)NCBIT2T-CHM13v2.0
Slc19a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39182,990,242 - 83,016,541 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl182,990,244 - 83,016,169 (-)EnsemblGRCm39 Ensembl
GRCm38183,012,523 - 83,038,820 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl183,012,523 - 83,038,448 (-)EnsemblGRCm38mm10GRCm38
MGSCv37183,009,098 - 83,035,023 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36182,892,821 - 82,917,472 (-)NCBIMGSCv36mm8
Celera183,077,119 - 83,103,116 (-)NCBICelera
Cytogenetic Map1C5NCBI
cM Map142.65NCBI
Slc19a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8991,723,799 - 91,747,499 (-)NCBIGRCr8
mRatBN7.2984,275,722 - 84,299,368 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl984,277,024 - 84,299,337 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx992,707,216 - 92,729,248 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0997,835,678 - 97,857,714 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0996,218,535 - 96,240,515 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0988,762,775 - 88,828,553 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl988,764,073 - 88,816,898 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0988,510,631 - 88,572,788 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4982,323,669 - 82,346,559 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1982,507,109 - 82,532,580 (-)NCBI
Celera981,719,462 - 81,741,701 (-)NCBICelera
Cytogenetic Map9q35NCBI
Slc19a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554536,935,371 - 6,958,103 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554536,935,372 - 6,957,808 (+)NCBIChiLan1.0ChiLan1.0
SLC19A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213130,298,237 - 130,333,141 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B130,313,207 - 130,348,111 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B114,925,990 - 114,957,841 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B233,736,721 - 233,767,935 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B233,736,050 - 233,764,514 (-)Ensemblpanpan1.1panPan2
LOC486151
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12540,411,489 - 40,442,183 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2540,412,427 - 40,438,042 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2541,028,950 - 41,066,567 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02540,657,948 - 40,695,609 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2540,657,948 - 40,675,743 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12540,594,535 - 40,632,168 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02540,436,167 - 40,473,798 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02540,609,381 - 40,647,026 (-)NCBIUU_Cfam_GSD_1.0
LOC101963615
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303182,599,704 - 182,624,242 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365258,322,602 - 8,340,082 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365258,323,550 - 8,339,686 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC19A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15129,071,582 - 129,096,282 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115129,071,563 - 129,096,338 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215142,948,609 - 142,973,510 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Slc19a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248431,900,240 - 1,916,610 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC19A3
597 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000525273]|Inborn genetic diseases [RCV002528394]|not provided [RCV001755834] Chr2:227699254 [GRCh38]
Chr2:228563970 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000544428]|not provided [RCV001799679] Chr2:227698801 [GRCh38]
Chr2:228563517 [GRCh37]
Chr2:2q36.3		 uncertain significance
SLC19A3, IVS3AS, A-G, -14 single nucleotide variant Biotin-responsive basal ganglia disease [RCV000004826] Chr2:2q36.3 pathogenic
SLC19A3, 1-BP DUP, 74T duplication Biotin-responsive basal ganglia disease [RCV000004829] Chr2:2q36.3 pathogenic
NM_025243.4(SLC19A3):c.870A>G (p.Ala290=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640715]|SLC19A3-related disorder [RCV004755998] Chr2:227698845 [GRCh38]
Chr2:228563561 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000542921]|not provided [RCV001805172] Chr2:227699018 [GRCh38]
Chr2:228563734 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000004824]|Inborn genetic diseases [RCV003242961]|not provided [RCV001310775] Chr2:227702251 [GRCh38]
Chr2:228566967 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000004825]|Inborn genetic diseases [RCV002512775]|Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) [RCV004527286]|not provided [RCV000489300] Chr2:227688216 [GRCh38]
Chr2:228552932 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000004827] Chr2:227702189 [GRCh38]
Chr2:228566905 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000004828] Chr2:227698757 [GRCh38]
Chr2:228563473 [GRCh37]
Chr2:2q36.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000534567]|not provided [RCV000676549]|not specified [RCV000118358] Chr2:227696012 [GRCh38]
Chr2:228560728 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001083851]|not provided [RCV000676553]|not specified [RCV000118359] Chr2:227699406 [GRCh38]
Chr2:228564122 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001084177]|not provided [RCV000713317]|not specified [RCV000118360] Chr2:227702277 [GRCh38]
Chr2:228566993 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000549286]|not provided [RCV004707985]|not specified [RCV000118361] Chr2:227699280 [GRCh38]
Chr2:228563996 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001083046]|not provided [RCV000676552]|not specified [RCV000118362] Chr2:227699195 [GRCh38]
Chr2:228563911 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000531269]|not provided [RCV004709285]|not specified [RCV000118363] Chr2:227699166 [GRCh38]
Chr2:228563882 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.-2-10A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000277249]|not provided [RCV004708052]|not specified [RCV000128056] Chr2:227702330 [GRCh38]
Chr2:227702330..227702331 [GRCh38]
Chr2:228567046 [GRCh37]
Chr2:228567046..228567047 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000528317]|not provided [RCV000426605]|not specified [RCV000177348] Chr2:227699294 [GRCh38]
Chr2:228564010 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001083651]|not provided [RCV000676551]|not specified [RCV000128063] Chr2:227698959 [GRCh38]
Chr2:228563675 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) duplication Biotin-responsive basal ganglia disease [RCV000170443]|not provided [RCV000367514] Chr2:227702244..227702245 [GRCh38]
Chr2:228566960..228566961 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.546G>A (p.Val182=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001085266]|not provided [RCV000555222]|not specified [RCV000177349] Chr2:227699169 [GRCh38]
Chr2:228563885 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.383A>G (p.Tyr128Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001302686]|not provided [RCV001729844] Chr2:227699332 [GRCh38]
Chr2:228564048 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-14A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000697912]|not provided [RCV000514518] Chr2:227696095 [GRCh38]
Chr2:228560811 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000149551]|not provided [RCV001310776] Chr2:227702299 [GRCh38]
Chr2:228567015 [GRCh37]
Chr2:2q36.3		 pathogenic|not provided
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000806997]|SLC19A3-related disorder [RCV003917774]|not provided [RCV001561553]|not specified [RCV000193057] Chr2:227699528 [GRCh38]
Chr2:228564244 [GRCh37]
Chr2:2q36.3		 pathogenic|likely benign|uncertain significance
NM_025243.4(SLC19A3):c.544G>A (p.Val182Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001853110]|not specified [RCV000195083] Chr2:227699171 [GRCh38]
Chr2:228563887 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*8G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000319079]|not provided [RCV000724036]|not specified [RCV000198795] Chr2:227687389 [GRCh38]
Chr2:228552105 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*2130T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000259238]|not provided [RCV004708534] Chr2:227685267 [GRCh38]
Chr2:228549983 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1090G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000265590]|not provided [RCV004708544] Chr2:227686307 [GRCh38]
Chr2:228551023 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.662A>C (p.His221Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002515432]|not specified [RCV000196692] Chr2:227699053 [GRCh38]
Chr2:228563769 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.980-4del deletion Biotin-responsive basal ganglia disease [RCV000987049]|Thiamine Metabolism Dysfunction Syndrome [RCV000345647]|not provided [RCV000676550]|not specified [RCV000200477] Chr2:227696085 [GRCh38]
Chr2:228560801 [GRCh37]
Chr2:2q36.3		 pathogenic|benign
NM_025243.4(SLC19A3):c.1379_1381dup (p.Ile460dup) duplication Biotin-responsive basal ganglia disease [RCV000550793]|Inborn genetic diseases [RCV002515433]|SLC19A3-related disorder [RCV003967524] Chr2:227687506..227687507 [GRCh38]
Chr2:228552222..228552223 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001853198]|not provided [RCV000200692] Chr2:227698850 [GRCh38]
Chr2:228563566 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg) single nucleotide variant not provided [RCV000197098] Chr2:227687556 [GRCh38]
Chr2:228552272 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001083300]|not provided [RCV000726481]|not specified [RCV000366632] Chr2:227699316 [GRCh38]
Chr2:228564032 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000539133]|not provided [RCV001722096] Chr2:227699158 [GRCh38]
Chr2:228563874 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.979+19A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002054341]|not provided [RCV004709383]|not specified [RCV000198560] Chr2:227698717 [GRCh38]
Chr2:228563433 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000294366] Chr2:227695907 [GRCh38]
Chr2:228560623 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_025243.3(SLC19A3):c.1478C>G (p.Ser493Ter) single nucleotide variant not provided [RCV000199348] Chr2:227687410 [GRCh38]
Chr2:228552126 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000530460]|SLC19A3-related disorder [RCV003955195]|not provided [RCV000415854] Chr2:227699094 [GRCh38]
Chr2:228563810 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000624942]|not provided [RCV000676548] Chr2:227695949 [GRCh38]
Chr2:228560665 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.1314+1G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001368943]|not provided [RCV000255502] Chr2:227688165 [GRCh38]
Chr2:228552881 [GRCh37]
Chr2:2q36.3		 pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001085971]|not provided [RCV000333120] Chr2:227695916 [GRCh38]
Chr2:228560632 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000556824]|not provided [RCV001718708] Chr2:227702220 [GRCh38]
Chr2:228566936 [GRCh37]
Chr2:2q36.3		 benign|likely benign|uncertain significance
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000578309] Chr2:227699174 [GRCh38]
Chr2:228563890 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.*803G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000281126] Chr2:227686594 [GRCh38]
Chr2:228551310 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*2104T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000274322] Chr2:227685293 [GRCh38]
Chr2:228550009 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*1974G>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000270767]|not provided [RCV004708537] Chr2:227685423 [GRCh38]
Chr2:228550139 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*203C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000268537]|not provided [RCV001613087] Chr2:227687194 [GRCh38]
Chr2:228551910 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1320C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000268657] Chr2:227686077 [GRCh38]
Chr2:228550793 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1517T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000277331] Chr2:227685880 [GRCh38]
Chr2:228550596 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1427T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000313794]|not provided [RCV004708543] Chr2:227685970 [GRCh38]
Chr2:228550686 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.-52T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000332399] Chr2:227717992 [GRCh38]
Chr2:228582708 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000373769] Chr2:227687446 [GRCh38]
Chr2:228552162 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000684964]|Inborn genetic diseases [RCV002521413]|not provided [RCV001556309] Chr2:227698738 [GRCh38]
Chr2:228563454 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*591ATT[2] microsatellite Thiamine Metabolism Dysfunction Syndrome [RCV000315040] Chr2:227686798..227686800 [GRCh38]
Chr2:228551514..228551516 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000547751]|not provided [RCV001310774] Chr2:227699325 [GRCh38]
Chr2:228564041 [GRCh37]
Chr2:2q36.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*977del deletion Thiamine Metabolism Dysfunction Syndrome [RCV000375676] Chr2:227686420 [GRCh38]
Chr2:228551136 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1000A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000335774]|not provided [RCV004708545] Chr2:227686397 [GRCh38]
Chr2:228551113 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1818T>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000376681] Chr2:227685579 [GRCh38]
Chr2:228550295 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*506C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000399647] Chr2:227686891 [GRCh38]
Chr2:228551607 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*2130_*2132delinsCGC indel Thiamine Metabolism Dysfunction Syndrome [RCV000356402] Chr2:227685265..227685267 [GRCh38]
Chr2:228549981..228549983 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1740G>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000401462]|not provided [RCV004709906] Chr2:227685657 [GRCh38]
Chr2:228550373 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1815A>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV001094628]|Thiamine Metabolism Dysfunction Syndrome [RCV000286925]|not provided [RCV004708540] Chr2:227685582 [GRCh38]
Chr2:228550298 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*231G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000303603]|not provided [RCV004710880] Chr2:227687166 [GRCh38]
Chr2:228551882 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.*2132T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000303833]|not provided [RCV004708533] Chr2:227685265 [GRCh38]
Chr2:228549981 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1792C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000338152] Chr2:227685605 [GRCh38]
Chr2:228550321 [GRCh37]
Chr2:2q36.3		 benign|uncertain significance
NM_025243.4(SLC19A3):c.*204G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000358432] Chr2:227687193 [GRCh38]
Chr2:228551909 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.-60C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000382302] Chr2:227718000 [GRCh38]
Chr2:228582716 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.*1925A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000290664] Chr2:227685472 [GRCh38]
Chr2:228550188 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*1839G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000340885]|not provided [RCV004709905] Chr2:227685558 [GRCh38]
Chr2:228550274 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000361560] Chr2:227699234 [GRCh38]
Chr2:228563950 [GRCh37]
Chr2:2q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*1953G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000384981]|not provided [RCV004708539] Chr2:227685444 [GRCh38]
Chr2:228550160 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*499C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000306964] Chr2:227686898 [GRCh38]
Chr2:228551614 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.*1339C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000363787] Chr2:227686058 [GRCh38]
Chr2:228550774 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1963C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000325716]|not provided [RCV004708538] Chr2:227685434 [GRCh38]
Chr2:228550150 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1996T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000388566]|not provided [RCV004708536] Chr2:227685401 [GRCh38]
Chr2:228550117 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*348A>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000366580] Chr2:227687049 [GRCh38]
Chr2:228551765 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.*1684A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000367272]|not provided [RCV004708542] Chr2:227685713 [GRCh38]
Chr2:228550429 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000547029]|SLC19A3-related disorder [RCV003940362]|not provided [RCV000439271] Chr2:227695929 [GRCh38]
Chr2:228560645 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*1121G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000328452] Chr2:227686276 [GRCh38]
Chr2:228550992 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000556127]|Inborn genetic diseases [RCV002523120]|Intellectual disability [RCV001251644]|not provided [RCV003311766]|not specified [RCV000443556] Chr2:227699102 [GRCh38]
Chr2:228563818 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*2109C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000369211]|not provided [RCV004708535] Chr2:227685288 [GRCh38]
Chr2:228550004 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*2139G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000392660] Chr2:227685258 [GRCh38]
Chr2:228549974 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1813A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV001094629]|Thiamine Metabolism Dysfunction Syndrome [RCV000297242]|not provided [RCV004708541] Chr2:227685584 [GRCh38]
Chr2:228550300 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1696G>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000312416] Chr2:227685701 [GRCh38]
Chr2:228550417 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.*2129A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000298101] Chr2:227685268 [GRCh38]
Chr2:228549984 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*575G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000351192] Chr2:227686822 [GRCh38]
Chr2:228551538 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001084366]|SLC19A3-related disorder [RCV003930046]|not provided [RCV000724904] Chr2:227698914 [GRCh38]
Chr2:228563630 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000813702]|not provided [RCV000273994] Chr2:227699390 [GRCh38]
Chr2:228564106 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*33A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000260346] Chr2:227687364 [GRCh38]
Chr2:228552080 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.225T>C (p.Asp75=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002059288]|not provided [RCV000275775] Chr2:227699490 [GRCh38]
Chr2:228564206 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000408622]|not provided [RCV001546114] Chr2:227699378 [GRCh38]
Chr2:228564094 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.979+292G>A single nucleotide variant not provided [RCV001571788] Chr2:227698444 [GRCh38]
Chr2:228563160 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1228A>C (p.Asn410His) single nucleotide variant not provided [RCV000489741] Chr2:227688252 [GRCh38]
Chr2:228552968 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.151-36G>T single nucleotide variant not provided [RCV001547953] Chr2:227699600 [GRCh38]
Chr2:228564316 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001234509]|not provided [RCV000488928] Chr2:227699492 [GRCh38]
Chr2:228564208 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.*1059C>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000379878] Chr2:227686338 [GRCh38]
Chr2:228551054 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*685G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000400373] Chr2:227686712 [GRCh38]
Chr2:228551428 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.3(SLC19A3):c.-90C>T single nucleotide variant Thiamine Metabolism Dysfunction Syndrome [RCV000317884]|not provided [RCV001613256] Chr2:227718030 [GRCh38]
Chr2:228582746 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*1104T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000383059] Chr2:227686293 [GRCh38]
Chr2:228551009 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*2033A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000334047] Chr2:227685364 [GRCh38]
Chr2:228550080 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1072A>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000320656] Chr2:227686325 [GRCh38]
Chr2:228551041 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*778G>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV000350284] Chr2:227686619 [GRCh38]
Chr2:228551335 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1003G>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV000285407] Chr2:227686394 [GRCh38]
Chr2:228551110 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*300G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000407852] Chr2:227687097 [GRCh38]
Chr2:228551813 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) duplication Biotin-responsive basal ganglia disease [RCV000408606]|not provided [RCV000790727] Chr2:227702236..227702237 [GRCh38]
Chr2:228566952..228566953 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.*176A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000323578] Chr2:227687221 [GRCh38]
Chr2:228551937 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*106A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000355178] Chr2:227687291 [GRCh38]
Chr2:228552007 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.466G>A (p.Val156Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001366890]|not provided [RCV000596273] Chr2:227699249 [GRCh38]
Chr2:228563965 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.781G>A (p.Val261Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640711] Chr2:227698934 [GRCh38]
Chr2:228563650 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.57C>G (p.Leu19=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640713] Chr2:227702262 [GRCh38]
Chr2:228566978 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*1355G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139340] Chr2:227686042 [GRCh38]
Chr2:228550758 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001087078]|not provided [RCV000593122] Chr2:227696005 [GRCh38]
Chr2:228560721 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.979+9A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002529480]|not specified [RCV000603125] Chr2:227698727 [GRCh38]
Chr2:228563443 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*2159G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139242] Chr2:227685238 [GRCh38]
Chr2:228549954 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001086955]|SLC19A3-related disorder [RCV003409576]|not provided [RCV000414665] Chr2:227688228 [GRCh38]
Chr2:228552944 [GRCh37]
Chr2:2q36.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000800842]|Inborn genetic diseases [RCV004027031]|not provided [RCV000732174] Chr2:227699153 [GRCh38]
Chr2:228563869 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.106A>G (p.Ile36Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001046655]|not provided [RCV000730839] Chr2:227702213 [GRCh38]
Chr2:228566929 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1 copy number loss See cases [RCV000449366] Chr2:228534400..228589902 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1148A>G (p.Tyr383Cys) single nucleotide variant not provided [RCV000423967] Chr2:227695913 [GRCh38]
Chr2:228560629 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000558668]|SLC19A3-related disorder [RCV003902596]|not provided [RCV001698181] Chr2:227702301 [GRCh38]
Chr2:228567017 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.-6G>T single nucleotide variant not specified [RCV000441927] Chr2:227717946 [GRCh38]
Chr2:228582662 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.387C>T (p.Ser129=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640717]|not provided [RCV001703766] Chr2:227699328 [GRCh38]
Chr2:228564044 [GRCh37]
Chr2:2q36.3		 likely benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 likely pathogenic
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001856855]|not provided [RCV000482702] Chr2:227688227 [GRCh38]
Chr2:228552943 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) deletion Biotin-responsive basal ganglia disease [RCV001346469]|not provided [RCV000486999] Chr2:227699210..227699212 [GRCh38]
Chr2:228563926..228563928 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_025243.4(SLC19A3):c.488C>A (p.Ser163Tyr) single nucleotide variant not provided [RCV000493510] Chr2:227699227 [GRCh38]
Chr2:228563943 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
NC_000002.12:g.227717535_227722344del deletion Biotin-responsive basal ganglia disease [RCV000490817] Chr2:227717535..227722344 [GRCh38]
Chr2:228582251..228587060 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu) single nucleotide variant not provided [RCV000494124]|not specified [RCV004767302] Chr2:227699251 [GRCh38]
Chr2:228563967 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001301246]|not provided [RCV000494248] Chr2:227695943 [GRCh38]
Chr2:228560659 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.148G>T (p.Glu50Ter) single nucleotide variant not provided [RCV000494363] Chr2:227702171 [GRCh38]
Chr2:228566887 [GRCh37]
Chr2:2q36.3		 likely pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_025243.4(SLC19A3):c.957A>G (p.Val319=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611527]|not specified [RCV000601600] Chr2:227698758 [GRCh38]
Chr2:228563474 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.587G>A (p.Ser196Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640709] Chr2:227699128 [GRCh38]
Chr2:228563844 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1173-4A>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001085436]|Inborn genetic diseases [RCV002532420]|not provided [RCV000595717] Chr2:227688311 [GRCh38]
Chr2:228553027 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000002.11:g.(?_228552093)_(228567054_?)dup duplication Biotin-responsive basal ganglia disease [RCV000558513] Chr2:227687377..227702338 [GRCh38]
Chr2:228552093..228567054 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000533777]|Inborn genetic diseases [RCV002530059]|not provided [RCV003105950] Chr2:227687518 [GRCh38]
Chr2:228552234 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.1364T>G (p.Met455Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640710] Chr2:227687524 [GRCh38]
Chr2:228552240 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.597dup (p.His200fs) duplication Biotin-responsive basal ganglia disease [RCV000640712]|not provided [RCV001268315] Chr2:227699117..227699118 [GRCh38]
Chr2:228563833..228563834 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.1172+9T>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640716] Chr2:227695880 [GRCh38]
Chr2:228560596 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000656114] Chr2:227699450 [GRCh38]
Chr2:228564166 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1274TAG[1] (p.Val426del) microsatellite Biotin-responsive basal ganglia disease [RCV000656113] Chr2:227688201..227688203 [GRCh38]
Chr2:228552917..228552919 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.917A>G (p.Lys306Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640705] Chr2:227698798 [GRCh38]
Chr2:228563514 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001087388]|SLC19A3-related disorder [RCV003953140]|not provided [RCV000733532] Chr2:227699279 [GRCh38]
Chr2:228563995 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640708]|not provided [RCV003318614] Chr2:227699564 [GRCh38]
Chr2:228564280 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.979+15C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502542]|not specified [RCV000608470] Chr2:227698721 [GRCh38]
Chr2:228563437 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000656115] Chr2:227699518 [GRCh38]
Chr2:228564234 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000656116] Chr2:227698753 [GRCh38]
Chr2:228563469 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.637G>C (p.Val213Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000640706] Chr2:227699078 [GRCh38]
Chr2:228563794 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000656117] Chr2:227698865 [GRCh38]
Chr2:228563581 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) deletion Biotin-responsive basal ganglia disease [RCV000721987] Chr2:227702208 [GRCh38]
Chr2:228566924 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_025243.4(SLC19A3):c.1089G>A (p.Met363Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000704158] Chr2:227695972 [GRCh38]
Chr2:228560688 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1193T>G (p.Leu398Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000701827] Chr2:227688287 [GRCh38]
Chr2:228553003 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) duplication Biotin-responsive basal ganglia disease [RCV000702941] Chr2:227695981..227695982 [GRCh38]
Chr2:228560697..228560698 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala) single nucleotide variant not provided [RCV000713318] Chr2:227698819 [GRCh38]
Chr2:228563535 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.275T>C (p.Ile92Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000697435] Chr2:227699440 [GRCh38]
Chr2:228564156 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1015G>A (p.Val339Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000695001] Chr2:227696046 [GRCh38]
Chr2:228560762 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.862G>A (p.Ala288Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000691146]|Inborn genetic diseases [RCV004025073] Chr2:227698853 [GRCh38]
Chr2:228563569 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.400G>A (p.Glu134Lys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000698025]|not provided [RCV004692153] Chr2:227699315 [GRCh38]
Chr2:228564031 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.494C>A (p.Ala165Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000696773]|Inborn genetic diseases [RCV002534334] Chr2:227699221 [GRCh38]
Chr2:228563937 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1256C>A (p.Thr419Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000703368] Chr2:227688224 [GRCh38]
Chr2:228552940 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000689414]|not provided [RCV003226967] Chr2:227696037 [GRCh38]
Chr2:228560753 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:228568652-228612016)x1 copy number loss not provided [RCV000740929] Chr2:228568652..228612016 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.335T>C (p.Phe112Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000938104]|not provided [RCV001564416] Chr2:227699380 [GRCh38]
Chr2:228564096 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.-2-76del deletion not provided [RCV001609923]|not specified [RCV004594401] Chr2:227702396 [GRCh38]
Chr2:228567112 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.980-10T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611554]|not provided [RCV001703254] Chr2:227696091 [GRCh38]
Chr2:228560807 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1172+227A>G single nucleotide variant not provided [RCV001565476] Chr2:227695662 [GRCh38]
Chr2:228560378 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1376A>G (p.Tyr459Cys) single nucleotide variant Inborn genetic diseases [RCV003267439] Chr2:227687512 [GRCh38]
Chr2:228552228 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001387186]|not provided [RCV000760653] Chr2:227699526 [GRCh38]
Chr2:228564242 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.412A>G (p.Arg138Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001054776] Chr2:227699303 [GRCh38]
Chr2:228564019 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-46G>T single nucleotide variant not provided [RCV001567323] Chr2:227696127 [GRCh38]
Chr2:228560843 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1378A>G (p.Ile460Val) single nucleotide variant not provided [RCV000997691] Chr2:227687510 [GRCh38]
Chr2:228552226 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001067742]|not provided [RCV000997693] Chr2:227699183 [GRCh38]
Chr2:228563899 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.987G>A (p.Val329=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000926665]|not provided [RCV001566416] Chr2:227696074 [GRCh38]
Chr2:228560790 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1230C>T (p.Asn410=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001450263] Chr2:227688250 [GRCh38]
Chr2:228552966 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.901A>G (p.Ile301Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000882379] Chr2:227698814 [GRCh38]
Chr2:228563530 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000924786]|not provided [RCV001664551] Chr2:227687545 [GRCh38]
Chr2:228552261 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.1309A>T (p.Ile437Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001044063] Chr2:227688171 [GRCh38]
Chr2:228552887 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001067418]|not provided [RCV001732034] Chr2:227699342 [GRCh38]
Chr2:228564058 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.168C>A (p.Phe56Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001068683] Chr2:227699547 [GRCh38]
Chr2:228564263 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001062076]|not provided [RCV004761915] Chr2:227687447 [GRCh38]
Chr2:228552163 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.680G>A (p.Gly227Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001046822] Chr2:227699035 [GRCh38]
Chr2:228563751 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs) duplication Biotin-responsive basal ganglia disease [RCV001036230] Chr2:227687405..227687406 [GRCh38]
Chr2:228552121..228552122 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.357C>T (p.Ala119=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000888472] Chr2:227699358 [GRCh38]
Chr2:228564074 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000975516] Chr2:227698854 [GRCh38]
Chr2:228563570 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity
NM_025243.4(SLC19A3):c.24A>T (p.Leu8=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000981397] Chr2:227702295 [GRCh38]
Chr2:228567011 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1315-4C>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001431936]|SLC19A3-related disorder [RCV003970621] Chr2:227687577 [GRCh38]
Chr2:228552293 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.779A>T (p.Asp260Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000960445] Chr2:227698936 [GRCh38]
Chr2:228563652 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.979+279_979+282del microsatellite not provided [RCV000833059] Chr2:227698454..227698457 [GRCh38]
Chr2:228563170..228563173 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1172+273_1172+277del deletion not provided [RCV000833064] Chr2:227695612..227695616 [GRCh38]
Chr2:228560328..228560332 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.447C>G (p.Ala149=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001464944] Chr2:227699268 [GRCh38]
Chr2:228563984 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000815888]|not provided [RCV002284442] Chr2:227699104 [GRCh38]
Chr2:228563820 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.979+93G>A single nucleotide variant not provided [RCV000835759] Chr2:227698643 [GRCh38]
Chr2:228563359 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1314+121C>A single nucleotide variant not provided [RCV000835760] Chr2:227688045 [GRCh38]
Chr2:228552761 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1315-123C>T single nucleotide variant not provided [RCV000835761] Chr2:227687696 [GRCh38]
Chr2:228552412 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.979+182A>G single nucleotide variant not provided [RCV000832521] Chr2:227698554 [GRCh38]
Chr2:228563270 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1172+273A>G single nucleotide variant not provided [RCV000832522] Chr2:227695616 [GRCh38]
Chr2:228560332 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1173-47C>T single nucleotide variant not provided [RCV000832937] Chr2:227688354 [GRCh38]
Chr2:228553070 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.150+198A>G single nucleotide variant not provided [RCV000833058] Chr2:227701971 [GRCh38]
Chr2:228566687 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1051G>T (p.Val351Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000810710] Chr2:227696010 [GRCh38]
Chr2:228560726 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.979+105G>A single nucleotide variant not provided [RCV000836222] Chr2:227698631 [GRCh38]
Chr2:228563347 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000807647] Chr2:227687437 [GRCh38]
Chr2:228552153 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.4G>A (p.Asp2Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000805176] Chr2:227702315 [GRCh38]
Chr2:228567031 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000811380]|not provided [RCV001577595] Chr2:227687549 [GRCh38]
Chr2:228552265 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.259G>T (p.Gly87Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000801909] Chr2:227699456 [GRCh38]
Chr2:228564172 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-246G>A single nucleotide variant not provided [RCV000833476] Chr2:227696327 [GRCh38]
Chr2:228561043 [GRCh37]
Chr2:2q36.3		 benign
GRCh37/hg19 2q36.3(chr2:228568988-228610384)x1 copy number loss not provided [RCV000847744] Chr2:228568988..228610384 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000785910] Chr2:227699167 [GRCh38]
Chr2:228563883 [GRCh37]
Chr2:2q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.100T>G (p.Phe34Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000818608] Chr2:227702219 [GRCh38]
Chr2:228566935 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.979+42G>C single nucleotide variant not provided [RCV000832990] Chr2:227698694 [GRCh38]
Chr2:228563410 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.980-235G>A single nucleotide variant not provided [RCV000833060] Chr2:227696316 [GRCh38]
Chr2:228561032 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.980-205G>A single nucleotide variant not provided [RCV000833061] Chr2:227696286 [GRCh38]
Chr2:228561002 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1172+196A>T single nucleotide variant not provided [RCV000833062] Chr2:227695693 [GRCh38]
Chr2:228560409 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1172+209A>G single nucleotide variant not provided [RCV000833063] Chr2:227695680 [GRCh38]
Chr2:228560396 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000802469] Chr2:227687440 [GRCh38]
Chr2:228552156 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.52A>G (p.Ile18Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000811563] Chr2:227702267 [GRCh38]
Chr2:228566983 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.998C>T (p.Ala333Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000794115] Chr2:227696063 [GRCh38]
Chr2:228560779 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:228534817-228656069)x3 copy number gain not provided [RCV000846056] Chr2:228534817..228656069 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.242C>T (p.Pro81Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000818153]|Inborn genetic diseases [RCV002535464]|Seizure [RCV001255066] Chr2:227699473 [GRCh38]
Chr2:228564189 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.-2-224G>T single nucleotide variant not provided [RCV000830812] Chr2:227702544 [GRCh38]
Chr2:228567260 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.660T>A (p.Thr220=) single nucleotide variant not provided [RCV000895298] Chr2:227699055 [GRCh38]
Chr2:228563771 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.151-311T>A single nucleotide variant not provided [RCV000844040] Chr2:227699875 [GRCh38]
Chr2:228564591 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.979+213G>A single nucleotide variant not provided [RCV000844042] Chr2:227698523 [GRCh38]
Chr2:228563239 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1314+173G>A single nucleotide variant not provided [RCV000844044] Chr2:227687993 [GRCh38]
Chr2:228552709 [GRCh37]
Chr2:2q36.3		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_025243.4(SLC19A3):c.1173-4A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV000809256] Chr2:227688311 [GRCh38]
Chr2:228553027 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.17C>A (p.Thr6Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000817072] Chr2:227702302 [GRCh38]
Chr2:228567018 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1154T>C (p.Leu385Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000823366] Chr2:227695907 [GRCh38]
Chr2:228560623 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.761C>G (p.Pro254Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000817266]|Inborn genetic diseases [RCV004678845] Chr2:227698954 [GRCh38]
Chr2:228563670 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.150+203A>C single nucleotide variant not provided [RCV000832520] Chr2:227701966 [GRCh38]
Chr2:228566682 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1173-7A>G single nucleotide variant not provided [RCV000997692] Chr2:227688314 [GRCh38]
Chr2:228553030 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1842T>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137096] Chr2:227685555 [GRCh38]
Chr2:228550271 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1463G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139339] Chr2:227685934 [GRCh38]
Chr2:228550650 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.895_925del (p.Val299fs) deletion not provided [RCV001008836] Chr2:227698790..227698820 [GRCh38]
Chr2:228563506..228563536 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001052853]|Inborn genetic diseases [RCV002553297]|SLC19A3-related disorder [RCV003898057]|not provided [RCV001819772] Chr2:227698861 [GRCh38]
Chr2:228563577 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.*8G>T single nucleotide variant not provided [RCV000992995] Chr2:227687389 [GRCh38]
Chr2:228552105 [GRCh37]
Chr2:2q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.10T>A (p.Tyr4Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001889165] Chr2:227702309 [GRCh38]
Chr2:228567025 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.670G>A (p.Glu224Lys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001061721] Chr2:227699045 [GRCh38]
Chr2:228563761 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:228568988-228610384)x1 copy number loss not provided [RCV000846759] Chr2:228568988..228610384 [GRCh37]
Chr2:2q36.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1 copy number loss not provided [RCV001007513] Chr2:228534400..228589902 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:228562089-228649448)x1 copy number loss not provided [RCV001007514] Chr2:228562089..228649448 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.551T>C (p.Phe184Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001214715] Chr2:227699164 [GRCh38]
Chr2:228563880 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1217T>C (p.Val406Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001210069] Chr2:227688263 [GRCh38]
Chr2:228552979 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001226019] Chr2:227699331 [GRCh38]
Chr2:228564047 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.193G>C (p.Val65Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001216545] Chr2:227699522 [GRCh38]
Chr2:228564238 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*59T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV001140230] Chr2:227687338 [GRCh38]
Chr2:228552054 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1995G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143657] Chr2:227685402 [GRCh38]
Chr2:228550118 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*1044G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143766] Chr2:227686353 [GRCh38]
Chr2:228551069 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.172G>T (p.Val58Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001061337] Chr2:227699543 [GRCh38]
Chr2:228564259 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1264A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV001141961] Chr2:227686133 [GRCh38]
Chr2:228550849 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001809982]|not provided [RCV001093253] Chr2:227698821 [GRCh38]
Chr2:228563537 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV004699956] Chr2:227699558 [GRCh38]
Chr2:228564274 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.175T>C (p.Trp59Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003107769] Chr2:227699540 [GRCh38]
Chr2:228564256 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1253A>C (p.Gln418Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003110163] Chr2:227688227 [GRCh38]
Chr2:228552943 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.150+233G>A single nucleotide variant not provided [RCV001588216] Chr2:227701936 [GRCh38]
Chr2:228566652 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1315-64G>A single nucleotide variant not provided [RCV001580871] Chr2:227687637 [GRCh38]
Chr2:228552353 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002579497]|not provided [RCV001590844] Chr2:227699091 [GRCh38]
Chr2:228563807 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.399C>T (p.Pro133=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001467574] Chr2:227699316 [GRCh38]
Chr2:228564032 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.519C>T (p.Asn173=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000929755] Chr2:227699196 [GRCh38]
Chr2:228563912 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.222C>T (p.Thr74=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000908454] Chr2:227699493 [GRCh38]
Chr2:228564209 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1137C>T (p.Phe379=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001437229] Chr2:227695924 [GRCh38]
Chr2:228560640 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV000950526]|not provided [RCV001558668] Chr2:227688276 [GRCh38]
Chr2:228552992 [GRCh37]
Chr2:2q36.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.1449C>T (p.His483=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001858596] Chr2:227687439 [GRCh38]
Chr2:228552155 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.745C>T (p.Leu249=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002065526] Chr2:227698970 [GRCh38]
Chr2:228563686 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.819C>T (p.Tyr273=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001402868] Chr2:227698896 [GRCh38]
Chr2:228563612 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*103C>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001140229]|not provided [RCV001586001] Chr2:227687294 [GRCh38]
Chr2:228552010 [GRCh37]
Chr2:2q36.3		 benign|likely benign
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001873462]|not provided [RCV001093254] Chr2:227699435 [GRCh38]
Chr2:228564151 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) deletion Biotin-responsive basal ganglia disease [RCV001250166]|not provided [RCV001587288] Chr2:227699232..227699233 [GRCh38]
Chr2:228563948..228563949 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.357C>A (p.Ala119=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001227650] Chr2:227699358 [GRCh38]
Chr2:228564074 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.402G>C (p.Glu134Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001234276] Chr2:227699313 [GRCh38]
Chr2:228564029 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1365G>A (p.Met455Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001063400] Chr2:227687523 [GRCh38]
Chr2:228552239 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1328G>T (p.Gly443Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001209643] Chr2:227687560 [GRCh38]
Chr2:228552276 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1205G>A (p.Arg402His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001065872] Chr2:227688275 [GRCh38]
Chr2:228552991 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1315-7T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV001462220] Chr2:227687580 [GRCh38]
Chr2:228552296 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001038260]|not provided [RCV000997694] Chr2:227699360 [GRCh38]
Chr2:228564076 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.171del (p.Val58fs) deletion Biotin-responsive basal ganglia disease [RCV003771790]|not provided [RCV001582322] Chr2:227699544 [GRCh38]
Chr2:228564260 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002568489]|not provided [RCV001576249] Chr2:227696081 [GRCh38]
Chr2:228560797 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*2050C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001141861] Chr2:227685347 [GRCh38]
Chr2:228550063 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1207C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001141963] Chr2:227686190 [GRCh38]
Chr2:228550906 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1094C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001141964]|not provided [RCV004711533] Chr2:227686303 [GRCh38]
Chr2:228551019 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*975G>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143767]|not provided [RCV004711537] Chr2:227686422 [GRCh38]
Chr2:228551138 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.*1800C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137097]|not provided [RCV004709030] Chr2:227685597 [GRCh38]
Chr2:228550313 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.*570T>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137212] Chr2:227686827 [GRCh38]
Chr2:228551543 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.876T>C (p.Phe292=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137315] Chr2:227698839 [GRCh38]
Chr2:228563555 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.12:g.(?_227616600)_(227744395_?)del deletion Biotin-responsive basal ganglia disease [RCV001194694] Chr2:228481316..228609111 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.*289A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139457] Chr2:227687108 [GRCh38]
Chr2:228551824 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001174545] Chr2:227698810 [GRCh38]
Chr2:228563526 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.*1256C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001141962] Chr2:227686141 [GRCh38]
Chr2:228550857 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.-3+142T>G single nucleotide variant not provided [RCV001590180] Chr2:227717801 [GRCh38]
Chr2:228582517 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.-2-62G>A single nucleotide variant not provided [RCV001708244]|not specified [RCV004594536] Chr2:227702382 [GRCh38]
Chr2:228567098 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1054T>C (p.Phe352Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001068401] Chr2:227696007 [GRCh38]
Chr2:228560723 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1349C>G (p.Ala450Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001047772] Chr2:227687539 [GRCh38]
Chr2:228552255 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001214556]|not provided [RCV001760189] Chr2:227698853 [GRCh38]
Chr2:228563569 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.382T>C (p.Tyr128His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001049208] Chr2:227699333 [GRCh38]
Chr2:228564049 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1859C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137095] Chr2:227685538 [GRCh38]
Chr2:228550254 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001050594] Chr2:227687449 [GRCh38]
Chr2:228552165 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1630G>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139338] Chr2:227685767 [GRCh38]
Chr2:228550483 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.785T>C (p.Phe262Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001212631] Chr2:227698930 [GRCh38]
Chr2:228563646 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.636C>A (p.Ser212Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137316] Chr2:227699079 [GRCh38]
Chr2:228563795 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.346G>A (p.Val116Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001205346] Chr2:227699369 [GRCh38]
Chr2:228564085 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.12:g.(?_227687377)_(227702338_?)del deletion Biotin-responsive basal ganglia disease [RCV001031079] Chr2:228552093..228567054 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001044146]|not provided [RCV003117720] Chr2:227687425 [GRCh38]
Chr2:228552141 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1070C>T (p.Ala357Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001216086] Chr2:227695991 [GRCh38]
Chr2:228560707 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*1905G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143658] Chr2:227685492 [GRCh38]
Chr2:228550208 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.482T>C (p.Leu161Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001215150] Chr2:227699233 [GRCh38]
Chr2:228563949 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.169C>A (p.Pro57Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001218486] Chr2:227699546 [GRCh38]
Chr2:228564262 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.553C>A (p.Leu185Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001205914] Chr2:227699162 [GRCh38]
Chr2:228563878 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.518A>G (p.Asn173Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001246380] Chr2:227699197 [GRCh38]
Chr2:228563913 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1225A>C (p.Ile409Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001228809] Chr2:227688255 [GRCh38]
Chr2:228552971 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.26G>A (p.Ser9Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001211359] Chr2:227702293 [GRCh38]
Chr2:228567009 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001140321] Chr2:227699355 [GRCh38]
Chr2:228564071 [GRCh37]
Chr2:2q36.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_025243.4(SLC19A3):c.*713C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001137211] Chr2:227686684 [GRCh38]
Chr2:228551400 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001142076] Chr2:227687476 [GRCh38]
Chr2:228552192 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.982G>A (p.Ala328Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001142077] Chr2:227696079 [GRCh38]
Chr2:228560795 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.893A>G (p.Tyr298Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001233655] Chr2:227698822 [GRCh38]
Chr2:228563538 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*115C>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV001139458] Chr2:227687282 [GRCh38]
Chr2:228551998 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.150+2T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV001215703] Chr2:227702167 [GRCh38]
Chr2:228566883 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.*1889T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143659] Chr2:227685508 [GRCh38]
Chr2:228550224 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.-2-11C>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV001140322] Chr2:227702331 [GRCh38]
Chr2:228567047 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.*924C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001143768] Chr2:227686473 [GRCh38]
Chr2:228551189 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1 copy number loss not provided [RCV001259188] Chr2:226027074..229110812 [GRCh37]
Chr2:2q36.2-36.3		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_025243.4(SLC19A3):c.1172+1G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502593]|not provided [RCV001268291] Chr2:227695888 [GRCh38]
Chr2:228560604 [GRCh37]
Chr2:2q36.3		 pathogenic|likely pathogenic
NM_025243.4(SLC19A3):c.1374del (p.Met458fs) deletion Biotin-responsive basal ganglia disease [RCV001300761] Chr2:227687514 [GRCh38]
Chr2:228552230 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001351366]|not specified [RCV002509669] Chr2:227699108 [GRCh38]
Chr2:228563824 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1166T>C (p.Ile389Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001312812] Chr2:227695895 [GRCh38]
Chr2:228560611 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1099G>A (p.Ala367Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001343988] Chr2:227695962 [GRCh38]
Chr2:228560678 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1183G>T (p.Ala395Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001338650] Chr2:227688297 [GRCh38]
Chr2:228553013 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.232C>T (p.Arg78Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001359775] Chr2:227699483 [GRCh38]
Chr2:228564199 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1245G>A (p.Leu415=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001360355] Chr2:227688235 [GRCh38]
Chr2:228552951 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.-2-3996A>T single nucleotide variant not provided [RCV001310777] Chr2:227706316 [GRCh38]
Chr2:228571032 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.141C>A (p.Thr47=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001396278] Chr2:227702178 [GRCh38]
Chr2:228566894 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.577C>T (p.Pro193Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001296557] Chr2:227699138 [GRCh38]
Chr2:228563854 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1070C>A (p.Ala357Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001306217] Chr2:227695991 [GRCh38]
Chr2:228560707 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1355T>C (p.Ile452Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001362939]|Inborn genetic diseases [RCV004671370] Chr2:227687533 [GRCh38]
Chr2:228552249 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.466G>T (p.Val156Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001342353] Chr2:227699249 [GRCh38]
Chr2:228563965 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.388G>A (p.Val130Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001305721] Chr2:227699327 [GRCh38]
Chr2:228564043 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1245G>T (p.Leu415Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001298293] Chr2:227688235 [GRCh38]
Chr2:228552951 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.883G>A (p.Val295Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001363253] Chr2:227698832 [GRCh38]
Chr2:228563548 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001369171]|not provided [RCV004774432] Chr2:227687479 [GRCh38]
Chr2:228552195 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.530T>C (p.Leu177Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001344210] Chr2:227699185 [GRCh38]
Chr2:228563901 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.448G>A (p.Ala150Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001374329]|not provided [RCV004699347] Chr2:227699267 [GRCh38]
Chr2:228563983 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.59G>A (p.Cys20Tyr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001363632] Chr2:227702260 [GRCh38]
Chr2:228566976 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1352G>A (p.Gly451Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001321163] Chr2:227687536 [GRCh38]
Chr2:228552252 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001322644]|See cases [RCV002252360]|not provided [RCV001760408] Chr2:227688276 [GRCh38]
Chr2:228552992 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.712C>T (p.Leu238Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001345542] Chr2:227699003 [GRCh38]
Chr2:228563719 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.88C>A (p.Pro30Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001360312] Chr2:227702231 [GRCh38]
Chr2:228566947 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.484G>A (p.Val162Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001315689] Chr2:227699231 [GRCh38]
Chr2:228563947 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1300C>T (p.Pro434Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001315098] Chr2:227688180 [GRCh38]
Chr2:228552896 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001317080]|not provided [RCV003442842] Chr2:227688265 [GRCh38]
Chr2:228552981 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.396C>A (p.Ser132Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001299185] Chr2:227699319 [GRCh38]
Chr2:228564035 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.171C>G (p.Pro57=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001505622] Chr2:227699544 [GRCh38]
Chr2:228564260 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.351C>T (p.Thr117=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001456998] Chr2:227699364 [GRCh38]
Chr2:228564080 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1071C>T (p.Ala357=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001487526] Chr2:227695990 [GRCh38]
Chr2:228560706 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1002G>T (p.Val334=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001473495] Chr2:227696059 [GRCh38]
Chr2:228560775 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1113G>A (p.Ala371=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001470573] Chr2:227695948 [GRCh38]
Chr2:228560664 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.78C>G (p.Ser26=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001428468] Chr2:227702241 [GRCh38]
Chr2:228566957 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001506666]|not provided [RCV003434297] Chr2:227695957 [GRCh38]
Chr2:228560673 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.816C>T (p.Cys272=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001496869] Chr2:227698899 [GRCh38]
Chr2:228563615 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer) deletion Biotin-responsive basal ganglia disease [RCV001388133] Chr2:227695897 [GRCh38]
Chr2:228560613 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.980-40dup duplication not provided [RCV001536676]|not specified [RCV004594319] Chr2:227696118..227696119 [GRCh38]
Chr2:228560834..228560835 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.375C>T (p.Ala125=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001456128] Chr2:227699340 [GRCh38]
Chr2:228564056 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.972C>A (p.Thr324=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001400761] Chr2:227698743 [GRCh38]
Chr2:228563459 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.690G>A (p.Glu230=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001393707] Chr2:227699025 [GRCh38]
Chr2:228563741 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.18T>C (p.Thr6=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001489981] Chr2:227702301 [GRCh38]
Chr2:228567017 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.228T>C (p.Tyr76=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001430687] Chr2:227699487 [GRCh38]
Chr2:228564203 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1383C>G (p.Thr461=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001425499] Chr2:227687505 [GRCh38]
Chr2:228552221 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001375973]|not provided [RCV004720883] Chr2:227699299 [GRCh38]
Chr2:228564015 [GRCh37]
Chr2:2q36.3		 likely pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.327A>C (p.Val109=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001408767] Chr2:227699388 [GRCh38]
Chr2:228564104 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.924A>G (p.Pro308=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001398909] Chr2:227698791 [GRCh38]
Chr2:228563507 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1467T>C (p.Asn489=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001428520] Chr2:227687421 [GRCh38]
Chr2:228552137 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.141C>T (p.Thr47=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001437696]|not provided [RCV001549513] Chr2:227702178 [GRCh38]
Chr2:228566894 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.513C>T (p.Tyr171=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001484515] Chr2:227699202 [GRCh38]
Chr2:228563918 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.825A>C (p.Ser275=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001499068] Chr2:227698890 [GRCh38]
Chr2:228563606 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1314+9C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV001476240] Chr2:227688157 [GRCh38]
Chr2:228552873 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.941T>C (p.Ile314Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001476467] Chr2:227698774 [GRCh38]
Chr2:228563490 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.366C>T (p.Ala122=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001423333] Chr2:227699349 [GRCh38]
Chr2:228564065 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.105T>C (p.Leu35=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001393303] Chr2:227702214 [GRCh38]
Chr2:228566930 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.522C>A (p.Val174=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001515661] Chr2:227699193 [GRCh38]
Chr2:228563909 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1383C>T (p.Thr461=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001400611] Chr2:227687505 [GRCh38]
Chr2:228552221 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.825A>G (p.Ser275=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001485539] Chr2:227698890 [GRCh38]
Chr2:228563606 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1257del (p.Ile420fs) deletion Biotin-responsive basal ganglia disease [RCV001386752] Chr2:227688223 [GRCh38]
Chr2:228552939 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.776_777del (p.Val259fs) microsatellite Biotin-responsive basal ganglia disease [RCV001384512] Chr2:227698938..227698939 [GRCh38]
Chr2:228563654..228563655 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.355G>T (p.Ala119Ser) single nucleotide variant not provided [RCV001756323] Chr2:227699360 [GRCh38]
Chr2:228564076 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_025243.4(SLC19A3):c.555T>C (p.Leu185=) single nucleotide variant not provided [RCV001786593] Chr2:227699160 [GRCh38]
Chr2:228563876 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.39T>G (p.Ile13Met) single nucleotide variant not provided [RCV001763821] Chr2:227702280 [GRCh38]
Chr2:228566996 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV001767877] Chr2:227699243 [GRCh38]
Chr2:228563959 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.217C>T (p.Leu73Phe) single nucleotide variant Inborn genetic diseases [RCV002540479]|not provided [RCV001774442] Chr2:227699498 [GRCh38]
Chr2:228564214 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.500T>A (p.Met167Lys) single nucleotide variant not provided [RCV001751989] Chr2:227699215 [GRCh38]
Chr2:228563931 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003120675]|not provided [RCV001767876] Chr2:227699227 [GRCh38]
Chr2:228563943 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.113A>G (p.Tyr38Cys) single nucleotide variant not provided [RCV001769223] Chr2:227702206 [GRCh38]
Chr2:228566922 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.63del (p.Leu21fs) deletion Biotin-responsive basal ganglia disease [RCV001784976] Chr2:227702256 [GRCh38]
Chr2:228566972 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.307dup (p.Val103fs) duplication Biotin-responsive basal ganglia disease [RCV001806393] Chr2:227699407..227699408 [GRCh38]
Chr2:228564123..228564124 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1019A>G (p.Asn340Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001950367]|Inborn genetic diseases [RCV003167433] Chr2:227696042 [GRCh38]
Chr2:228560758 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.150+1143C>G single nucleotide variant Spastic paraplegia [RCV001823787]|not provided [RCV004692696] Chr2:227701026 [GRCh38]
Chr2:228565742 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1216G>A (p.Val406Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002044399] Chr2:227688264 [GRCh38]
Chr2:228552980 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.679G>A (p.Gly227Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001914036] Chr2:227699036 [GRCh38]
Chr2:228563752 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.869C>T (p.Ala290Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001929238] Chr2:227698846 [GRCh38]
Chr2:228563562 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1280A>G (p.Asp427Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001915492] Chr2:227688200 [GRCh38]
Chr2:228552916 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) copy number loss not specified [RCV002053287] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 pathogenic
NM_025243.4(SLC19A3):c.1172+2T>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002020467] Chr2:227695887 [GRCh38]
Chr2:228560603 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.892T>G (p.Tyr298Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001911659] Chr2:227698823 [GRCh38]
Chr2:228563539 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.961G>A (p.Ala321Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001908303] Chr2:227698754 [GRCh38]
Chr2:228563470 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.931G>T (p.Asp311Tyr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002022281] Chr2:227698784 [GRCh38]
Chr2:228563500 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1073G>A (p.Gly358Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001966338] Chr2:227695988 [GRCh38]
Chr2:228560704 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.150+19A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002023255] Chr2:227702150 [GRCh38]
Chr2:228566866 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.835T>C (p.Phe279Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001891931] Chr2:227698880 [GRCh38]
Chr2:228563596 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.406T>C (p.Tyr136His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001893496] Chr2:227699309 [GRCh38]
Chr2:228564025 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.715A>G (p.Ser239Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002022703] Chr2:227699000 [GRCh38]
Chr2:228563716 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.779A>G (p.Asp260Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002041129] Chr2:227698936 [GRCh38]
Chr2:228563652 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_228552113)_(228567034_?)dup duplication Biotin-responsive basal ganglia disease [RCV001982742] Chr2:228552113..228567034 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.426del (p.Cys143fs) deletion Biotin-responsive basal ganglia disease [RCV001982938] Chr2:227699289 [GRCh38]
Chr2:228564005 [GRCh37]
Chr2:2q36.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1 copy number loss not specified [RCV002053290] Chr2:228534400..228589902 [GRCh37]
Chr2:2q36.3		 pathogenic|uncertain significance
NM_025243.4(SLC19A3):c.172G>A (p.Val58Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001948449] Chr2:227699543 [GRCh38]
Chr2:228564259 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1070C>G (p.Ala357Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001984210] Chr2:227695991 [GRCh38]
Chr2:228560707 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001903287]|not provided [RCV002511107] Chr2:227698792 [GRCh38]
Chr2:228563508 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.316A>G (p.Met106Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001980501] Chr2:227699399 [GRCh38]
Chr2:228564115 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001941887] Chr2:227702283 [GRCh38]
Chr2:228566999 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.738G>C (p.Lys246Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001867521] Chr2:227698977 [GRCh38]
Chr2:228563693 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.558C>G (p.Phe186Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001944152] Chr2:227699157 [GRCh38]
Chr2:228563873 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1457A>G (p.Glu486Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001962582] Chr2:227687431 [GRCh38]
Chr2:228552147 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.403C>A (p.His135Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001880918] Chr2:227699312 [GRCh38]
Chr2:228564028 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1049_1050inv (p.Val350Ala) inversion Biotin-responsive basal ganglia disease [RCV001886269] Chr2:227696011..227696012 [GRCh38]
Chr2:228560727..228560728 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.948T>G (p.Asn316Lys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001886891] Chr2:227698767 [GRCh38]
Chr2:228563483 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.622A>C (p.Lys208Gln) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002039107] Chr2:227699093 [GRCh38]
Chr2:228563809 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.766A>G (p.Asn256Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001977643] Chr2:227698949 [GRCh38]
Chr2:228563665 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1476G>C (p.Met492Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002031881] Chr2:227687412 [GRCh38]
Chr2:228552128 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1263G>A (p.Met421Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002018783] Chr2:227688217 [GRCh38]
Chr2:228552933 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1406A>T (p.Asp469Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001995100] Chr2:227687482 [GRCh38]
Chr2:228552198 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1314+3A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV001991723] Chr2:227688163 [GRCh38]
Chr2:228552879 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.591G>A (p.Met197Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001870301] Chr2:227699124 [GRCh38]
Chr2:228563840 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.421G>T (p.Gly141Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002050385] Chr2:227699294 [GRCh38]
Chr2:228564010 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1116C>G (p.Cys372Trp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001956739] Chr2:227695945 [GRCh38]
Chr2:228560661 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1382C>A (p.Thr461Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001993885] Chr2:227687506 [GRCh38]
Chr2:228552222 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1306A>C (p.Ser436Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002047008] Chr2:227688174 [GRCh38]
Chr2:228552890 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.158A>C (p.Asn53Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001884589] Chr2:227699557 [GRCh38]
Chr2:228564273 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.185C>T (p.Ser62Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001900944] Chr2:227699530 [GRCh38]
Chr2:228564246 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs) microsatellite Biotin-responsive basal ganglia disease [RCV001940022] Chr2:227687444..227687445 [GRCh38]
Chr2:228552160..228552161 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.989C>A (p.Ala330Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001989190] Chr2:227696072 [GRCh38]
Chr2:228560788 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.127G>A (p.Asp43Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001870188] Chr2:227702192 [GRCh38]
Chr2:228566908 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_228552113)_(228567034_?)del deletion Biotin-responsive basal ganglia disease [RCV001951525] Chr2:228552113..228567034 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.586A>G (p.Ser196Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001955372] Chr2:227699129 [GRCh38]
Chr2:228563845 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.999A>G (p.Ala333=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001902310] Chr2:227696062 [GRCh38]
Chr2:228560778 [GRCh37]
Chr2:2q36.3		 likely benign|uncertain significance
NM_025243.4(SLC19A3):c.1378A>C (p.Ile460Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001877093] Chr2:227687510 [GRCh38]
Chr2:228552226 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.539T>C (p.Val180Ala) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002019086] Chr2:227699176 [GRCh38]
Chr2:228563892 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001939377] Chr2:227698860 [GRCh38]
Chr2:228563576 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1150A>T (p.Met384Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001884366] Chr2:227695911 [GRCh38]
Chr2:228560627 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001991003]|not provided [RCV002274244] Chr2:227698760 [GRCh38]
Chr2:228563476 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.622A>G (p.Lys208Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002016795] Chr2:227699093 [GRCh38]
Chr2:228563809 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1183G>A (p.Ala395Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001875621] Chr2:227688297 [GRCh38]
Chr2:228553013 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.737A>C (p.Lys246Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001869962] Chr2:227698978 [GRCh38]
Chr2:228563694 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.98C>T (p.Pro33Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001952655] Chr2:227702221 [GRCh38]
Chr2:228566937 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.997G>A (p.Ala333Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV001899632] Chr2:227696064 [GRCh38]
Chr2:228560780 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.151-5T>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002031188] Chr2:227699569 [GRCh38]
Chr2:228564285 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-8T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV002186109] Chr2:227696089 [GRCh38]
Chr2:228560805 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1140G>A (p.Lys380=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002109124] Chr2:227695921 [GRCh38]
Chr2:228560637 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1314+11A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002149738] Chr2:227688155 [GRCh38]
Chr2:228552871 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.171C>T (p.Pro57=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002151601] Chr2:227699544 [GRCh38]
Chr2:228564260 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.420C>T (p.Ser140=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002113056] Chr2:227699295 [GRCh38]
Chr2:228564011 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.417G>C (p.Val139=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002171113] Chr2:227699298 [GRCh38]
Chr2:228564014 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1461G>A (p.Glu487=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002079551] Chr2:227687427 [GRCh38]
Chr2:228552143 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1254G>A (p.Gln418=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002194741] Chr2:227688226 [GRCh38]
Chr2:228552942 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1143C>T (p.Ser381=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002133163] Chr2:227695918 [GRCh38]
Chr2:228560634 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1314+20T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV002077642] Chr2:227688146 [GRCh38]
Chr2:228552862 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.805T>C (p.Leu269=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002208957] Chr2:227698910 [GRCh38]
Chr2:228563626 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.327A>G (p.Val109=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002102246] Chr2:227699388 [GRCh38]
Chr2:228564104 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.291G>C (p.Leu97=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002184418] Chr2:227699424 [GRCh38]
Chr2:228564140 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.78C>T (p.Ser26=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002177050] Chr2:227702241 [GRCh38]
Chr2:228566957 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.543C>T (p.Ser181=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002083371] Chr2:227699172 [GRCh38]
Chr2:228563888 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.582G>A (p.Lys194=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002199383] Chr2:227699133 [GRCh38]
Chr2:228563849 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.54C>T (p.Ile18=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002178642] Chr2:227702265 [GRCh38]
Chr2:228566981 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1440T>C (p.Asp480=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002204747] Chr2:227687448 [GRCh38]
Chr2:228552164 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.110C>T (p.Pro37Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003115479] Chr2:227702209 [GRCh38]
Chr2:228566925 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_228566865)_(228567034_?)dup duplication Biotin-responsive basal ganglia disease [RCV003122766] Chr2:228566865..228567034 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1380T>A (p.Ile460=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003118982] Chr2:227687508 [GRCh38]
Chr2:228552224 [GRCh37]
Chr2:2q36.3		 likely benign
NC_000002.11:g.(?_227659726)_(228567034_?)dup duplication not provided [RCV003122725] Chr2:227659726..228567034 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.414A>T (p.Arg138Ser) single nucleotide variant not specified [RCV003236291] Chr2:227699301 [GRCh38]
Chr2:228564017 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.718A>C (p.Thr240Pro) single nucleotide variant not provided [RCV002467305] Chr2:227698997 [GRCh38]
Chr2:228563713 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter) duplication Biotin-responsive basal ganglia disease [RCV003231062] Chr2:227687502..227687503 [GRCh38]
Chr2:228552218..228552219 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.503C>T (p.Ser168Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002302961] Chr2:227699212 [GRCh38]
Chr2:228563928 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.582G>T (p.Lys194Asn) single nucleotide variant Inborn genetic diseases [RCV002817413] Chr2:227699133 [GRCh38]
Chr2:228563849 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.951G>A (p.Gly317=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002776348] Chr2:227698764 [GRCh38]
Chr2:228563480 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.499A>G (p.Met167Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002819770] Chr2:227699216 [GRCh38]
Chr2:228563932 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.347T>G (p.Val116Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002815449] Chr2:227699368 [GRCh38]
Chr2:228564084 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1464T>C (p.Ser488=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003034436] Chr2:227687424 [GRCh38]
Chr2:228552140 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.826A>C (p.Lys276Gln) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003075925] Chr2:227698889 [GRCh38]
Chr2:228563605 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1398C>T (p.Ser466=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002756183] Chr2:227687490 [GRCh38]
Chr2:228552206 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1425A>C (p.Pro475=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002908613] Chr2:227687463 [GRCh38]
Chr2:228552179 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.312G>T (p.Lys104Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003017311] Chr2:227699403 [GRCh38]
Chr2:228564119 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.744G>A (p.Gln248=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002755565] Chr2:227698971 [GRCh38]
Chr2:228563687 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.993C>T (p.Ala331=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002776244] Chr2:227696068 [GRCh38]
Chr2:228560784 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1480A>G (p.Thr494Ala) single nucleotide variant Inborn genetic diseases [RCV002773442] Chr2:227687408 [GRCh38]
Chr2:228552124 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.390G>A (p.Val130=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003075033] Chr2:227699325 [GRCh38]
Chr2:228564041 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.723A>G (p.Ser241=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002903093] Chr2:227698992 [GRCh38]
Chr2:228563708 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.103C>T (p.Leu35Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002908588]|not provided [RCV004765591] Chr2:227702216 [GRCh38]
Chr2:228566932 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1261A>T (p.Met421Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003076771] Chr2:227688219 [GRCh38]
Chr2:228552935 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.202C>G (p.Leu68Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002838485] Chr2:227699513 [GRCh38]
Chr2:228564229 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.334T>G (p.Phe112Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002913203] Chr2:227699381 [GRCh38]
Chr2:228564097 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.769G>A (p.Val257Met) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002823978] Chr2:227698946 [GRCh38]
Chr2:228563662 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.542C>T (p.Ser181Phe) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002796960] Chr2:227699173 [GRCh38]
Chr2:228563889 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002909524] Chr2:227702252 [GRCh38]
Chr2:228566968 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.151-7T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV002999924] Chr2:227699571 [GRCh38]
Chr2:228564287 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-19T>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV002761642] Chr2:227688326 [GRCh38]
Chr2:228553042 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.405C>T (p.His135=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002847021] Chr2:227699310 [GRCh38]
Chr2:228564026 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.751A>G (p.Ser251Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002591494] Chr2:227698964 [GRCh38]
Chr2:228563680 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.17C>G (p.Thr6Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003002123] Chr2:227702302 [GRCh38]
Chr2:228567018 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.979+15C>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002866536] Chr2:227698721 [GRCh38]
Chr2:228563437 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.398C>T (p.Pro133Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003037945] Chr2:227699317 [GRCh38]
Chr2:228564033 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1080A>G (p.Leu360=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003078966] Chr2:227695981 [GRCh38]
Chr2:228560697 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1103A>G (p.Asn368Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002796666] Chr2:227695958 [GRCh38]
Chr2:228560674 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1090C>T (p.His364Tyr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003020021] Chr2:227695971 [GRCh38]
Chr2:228560687 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.990T>G (p.Ala330=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002621924] Chr2:227696071 [GRCh38]
Chr2:228560787 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.151-1G>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV002805831] Chr2:227699565 [GRCh38]
Chr2:228564281 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.919G>T (p.Ala307Ser) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002668096] Chr2:227698796 [GRCh38]
Chr2:228563512 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.919G>C (p.Ala307Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003058971] Chr2:227698796 [GRCh38]
Chr2:228563512 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.372C>T (p.Tyr124=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002624892] Chr2:227699343 [GRCh38]
Chr2:228564059 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.457G>A (p.Ala153Thr) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002828962] Chr2:227699258 [GRCh38]
Chr2:228563974 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.80TGA[1] (p.Met28del) microsatellite Biotin-responsive basal ganglia disease [RCV003022996] Chr2:227702234..227702236 [GRCh38]
Chr2:228566950..228566952 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.574A>G (p.Met192Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003023035] Chr2:227699141 [GRCh38]
Chr2:228563857 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.516C>G (p.Leu172=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002872310] Chr2:227699199 [GRCh38]
Chr2:228563915 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.955G>C (p.Val319Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002624311] Chr2:227698760 [GRCh38]
Chr2:228563476 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002852519] Chr2:227699555 [GRCh38]
Chr2:228564271 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.523A>G (p.Ile175Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002701451] Chr2:227699192 [GRCh38]
Chr2:228563908 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.644C>T (p.Pro215Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002791360] Chr2:227699071 [GRCh38]
Chr2:228563787 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.151-20G>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV002623575] Chr2:227699584 [GRCh38]
Chr2:228564300 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1258A>G (p.Ile420Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002596682] Chr2:227688222 [GRCh38]
Chr2:228552938 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1005T>C (p.Gly335=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002872391] Chr2:227696056 [GRCh38]
Chr2:228560772 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.612C>G (p.Ser204Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003082682] Chr2:227699103 [GRCh38]
Chr2:228563819 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1233C>T (p.Thr411=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002663822] Chr2:227688247 [GRCh38]
Chr2:228552963 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.881A>G (p.Gln294Arg) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003048544] Chr2:227698834 [GRCh38]
Chr2:228563550 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1101C>A (p.Ala367=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002810511] Chr2:227695960 [GRCh38]
Chr2:228560676 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.84G>A (p.Met28Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003026705] Chr2:227702235 [GRCh38]
Chr2:228566951 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1232C>T (p.Thr411Ile) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002628451] Chr2:227688248 [GRCh38]
Chr2:228552964 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-19C>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV003087544] Chr2:227696100 [GRCh38]
Chr2:228560816 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.491T>C (p.Leu164Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002628805] Chr2:227699224 [GRCh38]
Chr2:228563940 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.980-9T>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002877350] Chr2:227696090 [GRCh38]
Chr2:228560806 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1329G>A (p.Gly443=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003027012] Chr2:227687559 [GRCh38]
Chr2:228552275 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.859T>C (p.Phe287Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002807226] Chr2:227698856 [GRCh38]
Chr2:228563572 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.717C>T (p.Ser239=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002651040] Chr2:227698998 [GRCh38]
Chr2:228563714 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1038G>T (p.Glu346Asp) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002725747] Chr2:227696023 [GRCh38]
Chr2:228560739 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1444_1445delinsCT (p.Ser482Leu) indel Biotin-responsive basal ganglia disease [RCV003067751] Chr2:227687443..227687444 [GRCh38]
Chr2:228552159..228552160 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs) deletion Biotin-responsive basal ganglia disease [RCV002582860] Chr2:227699089..227699092 [GRCh38]
Chr2:228563805..228563808 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1370_1371delinsAA (p.Ser457Lys) indel Biotin-responsive basal ganglia disease [RCV003051080] Chr2:227687517..227687518 [GRCh38]
Chr2:228552233..228552234 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.233G>A (p.Arg78His) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002725645] Chr2:227699482 [GRCh38]
Chr2:228564198 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.752G>A (p.Ser251Asn) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002582720] Chr2:227698963 [GRCh38]
Chr2:228563679 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.368A>G (p.Tyr123Cys) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002611600] Chr2:227699347 [GRCh38]
Chr2:228564063 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.356C>T (p.Ala119Val) single nucleotide variant Biotin-responsive basal ganglia disease [RCV002611770] Chr2:227699359 [GRCh38]
Chr2:228564075 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.151-17A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV002606675] Chr2:227699581 [GRCh38]
Chr2:228564297 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(228560798_228563451)_228563704del deletion Biotin-responsive basal ganglia disease [RCV003226858] Chr2:228563451..228563704 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.-2-4020G>A single nucleotide variant not specified [RCV004598459] Chr2:227706340 [GRCh38]
Chr2:228571056 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.58T>A (p.Cys20Ser) single nucleotide variant not provided [RCV003329918] Chr2:227702261 [GRCh38]
Chr2:228566977 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.180A>G (p.Thr60=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003874816] Chr2:227699535 [GRCh38]
Chr2:228564251 [GRCh37]
Chr2:2q36.3		 likely benign
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:228355418-229592972)x3 copy number gain not provided [RCV003484093] Chr2:228355418..229592972 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.307G>A (p.Val103Met) single nucleotide variant not provided [RCV003481684] Chr2:227699408 [GRCh38]
Chr2:228564124 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.328G>A (p.Glu110Lys) single nucleotide variant not provided [RCV003440208] Chr2:227699387 [GRCh38]
Chr2:228564103 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.123A>T (p.Gly41=) single nucleotide variant not provided [RCV003440209] Chr2:227702196 [GRCh38]
Chr2:228566912 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.198del (p.Leu67fs) deletion not provided [RCV003431155] Chr2:227699517 [GRCh38]
Chr2:228564233 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1173-8A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502383] Chr2:227688315 [GRCh38]
Chr2:228553031 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502762] Chr2:227702318 [GRCh38]
Chr2:228567034 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.1482A>C (p.Thr494=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503003] Chr2:227687406 [GRCh38]
Chr2:228552122 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.979+8A>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503967] Chr2:227698728 [GRCh38]
Chr2:228563444 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504529] Chr2:227699208 [GRCh38]
Chr2:228563924 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.111A>G (p.Pro37=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612917] Chr2:227702208 [GRCh38]
Chr2:228566924 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.243A>G (p.Pro81=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612924] Chr2:227699472 [GRCh38]
Chr2:228564188 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.730C>T (p.Leu244=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613355] Chr2:227698985 [GRCh38]
Chr2:228563701 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.378C>T (p.Tyr126=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003829492] Chr2:227699337 [GRCh38]
Chr2:228564053 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.972C>T (p.Thr324=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611304] Chr2:227698743 [GRCh38]
Chr2:228563459 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.183C>T (p.Tyr61=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611411] Chr2:227699532 [GRCh38]
Chr2:228564248 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.980-15A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612520] Chr2:227696096 [GRCh38]
Chr2:228560812 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.870A>C (p.Ala290=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612523] Chr2:227698845 [GRCh38]
Chr2:228563561 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-12G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612359] Chr2:227688319 [GRCh38]
Chr2:228553035 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.447C>T (p.Ala149=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003878166] Chr2:227699268 [GRCh38]
Chr2:228563984 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1410A>T (p.Val470=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611786] Chr2:227687478 [GRCh38]
Chr2:228552194 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.45C>G (p.Pro15=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502081] Chr2:227702274 [GRCh38]
Chr2:228566990 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.190C>T (p.Leu64=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502496] Chr2:227699525 [GRCh38]
Chr2:228564241 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1315-14T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503074] Chr2:227687587 [GRCh38]
Chr2:228552303 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1335T>C (p.Tyr445=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503080] Chr2:227687553 [GRCh38]
Chr2:228552269 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.125dup (p.Asp43fs) duplication Biotin-responsive basal ganglia disease [RCV003503264] Chr2:227702193..227702194 [GRCh38]
Chr2:228566909..228566910 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503422] Chr2:227699202 [GRCh38]
Chr2:228563918 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1131G>A (p.Leu377=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611053] Chr2:227695930 [GRCh38]
Chr2:228560646 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.754C>T (p.Leu252=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611057] Chr2:227698961 [GRCh38]
Chr2:228563677 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.486A>G (p.Val162=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611080] Chr2:227699229 [GRCh38]
Chr2:228563945 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.210G>A (p.Val70=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611126] Chr2:227699505 [GRCh38]
Chr2:228564221 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.980-5_980-4del deletion Biotin-responsive basal ganglia disease [RCV003611297] Chr2:227696085..227696086 [GRCh38]
Chr2:228560801..228560802 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611727] Chr2:227698899 [GRCh38]
Chr2:228563615 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.921G>A (p.Ala307=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612383] Chr2:227698794 [GRCh38]
Chr2:228563510 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.102C>T (p.Phe34=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612600] Chr2:227702217 [GRCh38]
Chr2:228566933 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1314+7T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612625] Chr2:227688159 [GRCh38]
Chr2:228552875 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1053C>T (p.Val351=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612920] Chr2:227696008 [GRCh38]
Chr2:228560724 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.856del (p.Ala286fs) deletion Biotin-responsive basal ganglia disease [RCV003613046] Chr2:227698859 [GRCh38]
Chr2:228563575 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.63A>G (p.Leu21=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613165] Chr2:227702256 [GRCh38]
Chr2:228566972 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.981G>T (p.Gly327=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613333] Chr2:227696080 [GRCh38]
Chr2:228560796 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1302A>G (p.Pro434=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613346] Chr2:227688178 [GRCh38]
Chr2:228552894 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.765C>T (p.Ser255=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613366] Chr2:227698950 [GRCh38]
Chr2:228563666 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.21A>T (p.Ser7=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613393] Chr2:227702298 [GRCh38]
Chr2:228567014 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.330G>A (p.Glu110=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612189] Chr2:227699385 [GRCh38]
Chr2:228564101 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.324T>C (p.Val108=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612008] Chr2:227699391 [GRCh38]
Chr2:228564107 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1315-16A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611869] Chr2:227687589 [GRCh38]
Chr2:228552305 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.564T>C (p.Leu188=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611813] Chr2:227699151 [GRCh38]
Chr2:228563867 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.780C>T (p.Asp260=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502840] Chr2:227698935 [GRCh38]
Chr2:228563651 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs) duplication Biotin-responsive basal ganglia disease [RCV003502890] Chr2:227698826..227698827 [GRCh38]
Chr2:228563542..228563543 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503177] Chr2:227702307 [GRCh38]
Chr2:228567023 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.705A>G (p.Ser235=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503451] Chr2:227699010 [GRCh38]
Chr2:228563726 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-17T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503465] Chr2:227688324 [GRCh38]
Chr2:228553040 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.639G>C (p.Val213=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504297] Chr2:227699076 [GRCh38]
Chr2:228563792 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.552C>T (p.Phe184=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611000] Chr2:227699163 [GRCh38]
Chr2:228563879 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1407T>C (p.Asp469=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611050] Chr2:227687481 [GRCh38]
Chr2:228552197 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.354C>T (p.Ala118=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611059] Chr2:227699361 [GRCh38]
Chr2:228564077 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.186C>G (p.Ser62=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611094] Chr2:227699529 [GRCh38]
Chr2:228564245 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1172+14A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611208] Chr2:227695875 [GRCh38]
Chr2:228560591 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-14A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611377] Chr2:227688321 [GRCh38]
Chr2:228553037 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1297T>C (p.Leu433=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611458] Chr2:227688183 [GRCh38]
Chr2:228552899 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.597del (p.His200fs) deletion Biotin-responsive basal ganglia disease [RCV003612469] Chr2:227699118 [GRCh38]
Chr2:228563834 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1488C>T (p.Leu496=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612626] Chr2:227687400 [GRCh38]
Chr2:228552116 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter) duplication Biotin-responsive basal ganglia disease [RCV003612849] Chr2:227702189..227702190 [GRCh38]
Chr2:228566905..228566906 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.786T>C (p.Phe262=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612868] Chr2:227698929 [GRCh38]
Chr2:228563645 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1212dup (p.Val406fs) duplication Biotin-responsive basal ganglia disease [RCV003613096] Chr2:227688267..227688268 [GRCh38]
Chr2:228552983..228552984 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.906G>C (p.Leu302=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613103] Chr2:227698809 [GRCh38]
Chr2:228563525 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613167] Chr2:227699538 [GRCh38]
Chr2:228564254 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613171] Chr2:227699240 [GRCh38]
Chr2:228563956 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.894T>C (p.Tyr298=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613276] Chr2:227698821 [GRCh38]
Chr2:228563537 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.306A>C (p.Gly102=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613281] Chr2:227699409 [GRCh38]
Chr2:228564125 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.534C>A (p.Ala178=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003875998] Chr2:227699181 [GRCh38]
Chr2:228563897 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1425A>G (p.Pro475=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613485] Chr2:227687463 [GRCh38]
Chr2:228552179 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1347T>C (p.Ile449=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003613502] Chr2:227687541 [GRCh38]
Chr2:228552257 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.701del (p.Thr234fs) deletion Biotin-responsive basal ganglia disease [RCV003613504] Chr2:227699014 [GRCh38]
Chr2:228563730 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.771G>C (p.Val257=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502338] Chr2:227698944 [GRCh38]
Chr2:228563660 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502958] Chr2:227698920 [GRCh38]
Chr2:228563636 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.117A>G (p.Leu39=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503414] Chr2:227702202 [GRCh38]
Chr2:228566918 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1392C>A (p.Thr464=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504009] Chr2:227687496 [GRCh38]
Chr2:228552212 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.732G>A (p.Leu244=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504476] Chr2:227698983 [GRCh38]
Chr2:228563699 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.980-14A>T single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612175] Chr2:227696095 [GRCh38]
Chr2:228560811 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003611922] Chr2:227698747 [GRCh38]
Chr2:228563463 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.1236T>C (p.Phe412=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003612921] Chr2:227688244 [GRCh38]
Chr2:228552960 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.980-21_980-17dup duplication Biotin-responsive basal ganglia disease [RCV003502502] Chr2:227696097..227696098 [GRCh38]
Chr2:228560813..228560814 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-1G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503210] Chr2:227688308 [GRCh38]
Chr2:228553024 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.150+11A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503365] Chr2:227702158 [GRCh38]
Chr2:228566874 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.849A>C (p.Leu283=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503442] Chr2:227698866 [GRCh38]
Chr2:228563582 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.534C>T (p.Ala178=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504206] Chr2:227699181 [GRCh38]
Chr2:228563897 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.636C>T (p.Ser212=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003880626] Chr2:227699079 [GRCh38]
Chr2:228563795 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.456A>G (p.Thr152=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502308] Chr2:227699259 [GRCh38]
Chr2:228563975 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1197T>C (p.Asn399=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502404] Chr2:227688283 [GRCh38]
Chr2:228552999 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1129T>C (p.Leu377=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503178] Chr2:227695932 [GRCh38]
Chr2:228560648 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.663C>T (p.His221=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003878948] Chr2:227699052 [GRCh38]
Chr2:228563768 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.675A>G (p.Ala225=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503811] Chr2:227699040 [GRCh38]
Chr2:228563756 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.493G>C (p.Ala165Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503867] Chr2:227699222 [GRCh38]
Chr2:228563938 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.645A>G (p.Pro215=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504364] Chr2:227699070 [GRCh38]
Chr2:228563786 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.980-10T>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504486] Chr2:227696091 [GRCh38]
Chr2:228560807 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1170A>C (p.Ala390=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003502792] Chr2:227695891 [GRCh38]
Chr2:228560607 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1020C>T (p.Asn340=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503426] Chr2:227696041 [GRCh38]
Chr2:228560757 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.651A>G (p.Leu217=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503587] Chr2:227699064 [GRCh38]
Chr2:228563780 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.648A>G (p.Val216=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503739] Chr2:227699067 [GRCh38]
Chr2:228563783 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1272T>C (p.Ile424=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003503826] Chr2:227688208 [GRCh38]
Chr2:228552924 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs) deletion Biotin-responsive basal ganglia disease [RCV003504465] Chr2:227687485 [GRCh38]
Chr2:228552201 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.504G>A (p.Ser168=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003504466] Chr2:227699211 [GRCh38]
Chr2:228563927 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.150+15A>G single nucleotide variant Biotin-responsive basal ganglia disease [RCV003852173] Chr2:227702154 [GRCh38]
Chr2:228566870 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.510T>C (p.Phe170=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003816583] Chr2:227699205 [GRCh38]
Chr2:228563921 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.198G>A (p.Leu66=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003813865] Chr2:227699517 [GRCh38]
Chr2:228564233 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.942C>A (p.Ile314=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003845619] Chr2:227698773 [GRCh38]
Chr2:228563489 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1173-6T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003861840] Chr2:227688313 [GRCh38]
Chr2:228553029 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.69T>C (p.Gly23=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003841059] Chr2:227702250 [GRCh38]
Chr2:228566966 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.979+11G>A single nucleotide variant Biotin-responsive basal ganglia disease [RCV003871156] Chr2:227698725 [GRCh38]
Chr2:228563441 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.253T>C (p.Leu85=) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003843683] Chr2:227699462 [GRCh38]
Chr2:228564178 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.979+10T>C single nucleotide variant Biotin-responsive basal ganglia disease [RCV003853172] Chr2:227698726 [GRCh38]
Chr2:228563442 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003988722] Chr2:227688216 [GRCh38]
Chr2:228552932 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.696del (p.Lys232fs) deletion Biotin-responsive basal ganglia disease [RCV004006229] Chr2:227699019 [GRCh38]
Chr2:228563735 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro) single nucleotide variant Biotin-responsive basal ganglia disease [RCV003989081] Chr2:227702182 [GRCh38]
Chr2:228566898 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.1341A>G (p.Ala447=) single nucleotide variant SLC19A3-related disorder [RCV003903818] Chr2:227687547 [GRCh38]
Chr2:228552263 [GRCh37]
Chr2:2q36.3		 likely benign
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_025243.4(SLC19A3):c.191dup (p.Val65fs) duplication Biotin-responsive basal ganglia disease [RCV003990785] Chr2:227699523..227699524 [GRCh38]
Chr2:228564239..228564240 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.326T>C (p.Val109Ala) single nucleotide variant not specified [RCV004690958] Chr2:227699389 [GRCh38]
Chr2:228564105 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_228566865)_(228567034_?)del deletion Biotin-responsive basal ganglia disease [RCV004582529] Chr2:228566865..228567034 [GRCh37]
Chr2:2q36.3		 pathogenic
NC_000002.11:g.(?_228552862)_(228553043_?)del deletion Biotin-responsive basal ganglia disease [RCV004582530] Chr2:228552862..228553043 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.861C>A (p.Phe287Leu) single nucleotide variant Inborn genetic diseases [RCV004672184] Chr2:227698854 [GRCh38]
Chr2:228563570 [GRCh37]
Chr2:2q36.3		 likely benign
NM_025243.4(SLC19A3):c.271A>G (p.Ile91Val) single nucleotide variant not provided [RCV004588782] Chr2:227699444 [GRCh38]
Chr2:228564160 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.-2-4439G>A single nucleotide variant not specified [RCV004594010] Chr2:227706759 [GRCh38]
Chr2:228571475 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.959A>C (p.Glu320Ala) single nucleotide variant not specified [RCV004587705] Chr2:227698756 [GRCh38]
Chr2:228563472 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.150+1229C>T single nucleotide variant not specified [RCV004595458] Chr2:227700940 [GRCh38]
Chr2:228565656 [GRCh37]
Chr2:2q36.3		 benign
NM_025243.4(SLC19A3):c.752G>T (p.Ser251Ile) single nucleotide variant not provided [RCV004773337] Chr2:227698963 [GRCh38]
Chr2:228563679 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_025243.4(SLC19A3):c.479T>C (p.Leu160Pro) single nucleotide variant not provided [RCV004726183] Chr2:227699236 [GRCh38]
Chr2:228563952 [GRCh37]
Chr2:2q36.3		 likely pathogenic
NM_025243.4(SLC19A3):c.1052T>A (p.Val351Asp) single nucleotide variant not provided [RCV004773478] Chr2:227696009 [GRCh38]
Chr2:228560725 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_228548478)_(228567037_228582658)del deletion Biotin-responsive basal ganglia disease [RCV004766682] Chr2:228548478..228567037 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.1441G>T (p.Val481Leu) single nucleotide variant not provided [RCV004762488]   uncertain significance
NC_000002.11:g.(?_228548478)_(228564281_228566884)del deletion Biotin-responsive basal ganglia disease [RCV004766817] Chr2:228548478..228564281 [GRCh37]
Chr2:2q36.3		 pathogenic
NM_025243.4(SLC19A3):c.950G>A (p.Gly317Glu) single nucleotide variant Biotin-responsive basal ganglia disease [RCV004771623] Chr2:227698765 [GRCh38]
Chr2:228563481 [GRCh37]
Chr2:2q36.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3043
Count of miRNA genes:941
Interacting mature miRNAs:1107
Transcripts:ENST00000258403, ENST00000409287, ENST00000409456, ENST00000419059, ENST00000425817, ENST00000431622, ENST00000456524, ENST00000477697, ENST00000541617
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407411871GWAS1060847_Hhigh density lipoprotein cholesterol measurement QTL GWAS1060847 (human)1e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)2227702330227702331Human
407412048GWAS1061024_Htotal cholesterol measurement QTL GWAS1061024 (human)4e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)2227702330227702331Human
407255308GWAS904284_Hhigh density lipoprotein cholesterol measurement QTL GWAS904284 (human)1e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)2227700940227700941Human
407254477GWAS903453_Hhigh density lipoprotein cholesterol measurement QTL GWAS903453 (human)4e-19high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)2227700940227700941Human
407279320GWAS928296_Hbody height QTL GWAS928296 (human)7e-09body height (VT:0001253)body height (CMO:0000106)2227713093227713094Human

Markers in Region
G59870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,579,192 - 228,579,294UniSTSGRCh37
Build 362228,287,436 - 228,287,538RGDNCBI36
Celera2222,348,648 - 222,348,750RGD
Cytogenetic Map2q37UniSTS
HuRef2220,421,950 - 220,422,052UniSTS
TNG Radiation Hybrid Map2126533.0UniSTS
RH47615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,579,192 - 228,579,313UniSTSGRCh37
Build 362228,287,436 - 228,287,557RGDNCBI36
Celera2222,348,648 - 222,348,769RGD
Cytogenetic Map2q37UniSTS
HuRef2220,421,950 - 220,422,071UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
NCBI RH Map21840.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2407 2783 2229 4929 1682 2284 6 623 1139 464 2261 6457 5650 39 3698 1 838 1697 1554 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC064853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF271633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI056985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258403   ⟹   ENSP00000258403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,685,871 - 227,714,612 (-)Ensembl
Ensembl Acc Id: ENST00000409287   ⟹   ENSP00000386298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,685,855 - 227,718,010 (-)Ensembl
Ensembl Acc Id: ENST00000409456   ⟹   ENSP00000387193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,699,553 - 227,718,001 (-)Ensembl
Ensembl Acc Id: ENST00000419059   ⟹   ENSP00000398349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,699,522 - 227,702,977 (-)Ensembl
Ensembl Acc Id: ENST00000425817   ⟹   ENSP00000397393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,686,484 - 227,718,001 (-)Ensembl
Ensembl Acc Id: ENST00000431622   ⟹   ENSP00000400627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,686,552 - 227,718,001 (-)Ensembl
Ensembl Acc Id: ENST00000456524   ⟹   ENSP00000399001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,699,204 - 227,718,028 (-)Ensembl
Ensembl Acc Id: ENST00000477697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,701,607 - 227,717,999 (-)Ensembl
Ensembl Acc Id: ENST00000642268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,687,435 - 227,701,252 (-)Ensembl
Ensembl Acc Id: ENST00000644224   ⟹   ENSP00000495385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,683,763 - 227,718,028 (-)Ensembl
Ensembl Acc Id: ENST00000645700   ⟹   ENSP00000495372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,687,513 - 227,702,320 (-)Ensembl
Ensembl Acc Id: ENST00000645923   ⟹   ENSP00000495010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,685,958 - 227,718,001 (-)Ensembl
Ensembl Acc Id: ENST00000646591   ⟹   ENSP00000496701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,686,835 - 227,706,656 (-)Ensembl
Ensembl Acc Id: ENST00000647113   ⟹   ENSP00000494966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,685,210 - 227,702,320 (-)Ensembl
Ensembl Acc Id: ENST00000676066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2227,685,680 - 227,701,395 (-)Ensembl
RefSeq Acc Id: NM_001371411   ⟹   NP_001358340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,714,624 (-)NCBI
T2T-CHM13v2.02228,166,399 - 228,197,250 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371412   ⟹   NP_001358341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,706,656 (-)NCBI
T2T-CHM13v2.02228,166,399 - 228,189,295 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371413   ⟹   NP_001358342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,718,028 (-)NCBI
T2T-CHM13v2.02228,166,399 - 228,200,658 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371414   ⟹   NP_001358343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,706,779 (-)NCBI
T2T-CHM13v2.02228,166,399 - 228,189,418 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025243   ⟹   NP_079519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,718,028 (-)NCBI
GRCh372228,549,926 - 228,582,814 (-)NCBI
Build 362228,258,170 - 228,290,989 (-)NCBI Archive
HuRef2220,392,670 - 220,425,503 (-)ENTREZGENE
CHM1_12228,556,170 - 228,588,989 (-)NCBI
T2T-CHM13v2.02228,166,399 - 228,200,658 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445927   ⟹   XP_047301883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,683,763 - 227,718,028 (-)NCBI
RefSeq Acc Id: NP_079519   ⟸   NM_025243
- Peptide Label: isoform 1
- UniProtKB: Q9BZV2 (UniProtKB/Swiss-Prot),   B2R674 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358342   ⟸   NM_001371413
- Peptide Label: isoform 2
- UniProtKB: B7Z761 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358340   ⟸   NM_001371411
- Peptide Label: isoform 1
- UniProtKB: Q9BZV2 (UniProtKB/Swiss-Prot),   B2R674 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358343   ⟸   NM_001371414
- Peptide Label: isoform 2
- UniProtKB: B7Z761 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358341   ⟸   NM_001371412
- Peptide Label: isoform 1
- UniProtKB: Q9BZV2 (UniProtKB/Swiss-Prot),   B2R674 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000397393   ⟸   ENST00000425817
Ensembl Acc Id: ENSP00000258403   ⟸   ENST00000258403
Ensembl Acc Id: ENSP00000399001   ⟸   ENST00000456524
Ensembl Acc Id: ENSP00000398349   ⟸   ENST00000419059
Ensembl Acc Id: ENSP00000400627   ⟸   ENST00000431622
Ensembl Acc Id: ENSP00000495385   ⟸   ENST00000644224
Ensembl Acc Id: ENSP00000387193   ⟸   ENST00000409456
Ensembl Acc Id: ENSP00000386298   ⟸   ENST00000409287
Ensembl Acc Id: ENSP00000495010   ⟸   ENST00000645923
Ensembl Acc Id: ENSP00000495372   ⟸   ENST00000645700
Ensembl Acc Id: ENSP00000496701   ⟸   ENST00000646591
Ensembl Acc Id: ENSP00000494966   ⟸   ENST00000647113
RefSeq Acc Id: XP_047301883   ⟸   XM_047445927
- Peptide Label: isoform X1
- UniProtKB: A0A2R8YHG5 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZV2-F1-model_v2 AlphaFold Q9BZV2 1-496 view protein structure

Promoters
RGD ID:6863006
Promoter ID:EPDNEW_H4668
Type:initiation region
Name:SLC19A3_1
Description:solute carrier family 19 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,718,028 - 227,718,088EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16266 AgrOrtholog
COSMIC SLC19A3 COSMIC
Ensembl Genes ENSG00000135917 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258403 ENTREZGENE
  ENST00000258403.8 UniProtKB/Swiss-Prot
  ENST00000409287.5 UniProtKB/TrEMBL
  ENST00000409456.2 UniProtKB/TrEMBL
  ENST00000419059.1 UniProtKB/TrEMBL
  ENST00000425817.6 UniProtKB/TrEMBL
  ENST00000431622.6 UniProtKB/TrEMBL
  ENST00000456524.6 UniProtKB/TrEMBL
  ENST00000644224 ENTREZGENE
  ENST00000644224.2 UniProtKB/Swiss-Prot
  ENST00000645700.1 UniProtKB/TrEMBL
  ENST00000645923.1 UniProtKB/TrEMBL
  ENST00000646591 ENTREZGENE
  ENST00000646591.1 UniProtKB/TrEMBL
  ENST00000647113.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135917 GTEx
HGNC ID HGNC:16266 ENTREZGENE
Human Proteome Map SLC19A3 Human Proteome Map
InterPro Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThTr-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80704 UniProtKB/Swiss-Prot
NCBI Gene 80704 ENTREZGENE
OMIM 606152 OMIM
PANTHER PTHR10686 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIAMINE TRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38397 PharmGKB
PIRSF Folate_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiamine_transporter_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y655_HUMAN UniProtKB/TrEMBL
  A0A2R8Y694_HUMAN UniProtKB/TrEMBL
  A0A2R8YFC5_HUMAN UniProtKB/TrEMBL
  A0A2R8YHG5 ENTREZGENE, UniProtKB/TrEMBL
  B2R674 ENTREZGENE, UniProtKB/TrEMBL
  B7Z761 ENTREZGENE, UniProtKB/TrEMBL
  B8ZZ39_HUMAN UniProtKB/TrEMBL
  B8ZZW1_HUMAN UniProtKB/TrEMBL
  C9IZI1_HUMAN UniProtKB/TrEMBL
  C9J4J5_HUMAN UniProtKB/TrEMBL
  E7EM61_HUMAN UniProtKB/TrEMBL
  Q9BZV2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC19A3  solute carrier family 19 member 3    solute carrier family 19 (thiamine transporter), member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC19A3  solute carrier family 19 (thiamine transporter), member 3    solute carrier family 19, member 3  Symbol and/or name change 5135510 APPROVED