SLC52A3 (solute carrier family 52 member 3) - Rat Genome Database

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Gene: SLC52A3 (solute carrier family 52 member 3) Homo sapiens
Analyze
Symbol: SLC52A3
Name: solute carrier family 52 member 3
RGD ID: 1312203
HGNC Page HGNC:16187
Description: Enables riboflavin transmembrane transporter activity. Involved in riboflavin transport and sensory perception of sound. Located in cytoplasm; nucleus; and plasma membrane. Is integral component of plasma membrane. Implicated in Brown-Vialetto-Van Laere syndrome 1 and Fazio-Londe disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA371L19.1; BVVLS; BVVLS1; C20orf54; hRFT2; hypothetical protein LOC113278; MGC10698; RFT2; RFVT3; riboflavin transporter 2; SLC52A3a; SLC52A3b; solute carrier family 52 (riboflavin transporter), member 3; solute carrier family 52, riboflavin transporter, member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820760,080 - 780,033 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl20760,080 - 776,015 (-)EnsemblGRCh38hg38GRCh38
GRCh3720740,724 - 756,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620688,724 - 697,228 (-)NCBINCBI36hg18NCBI36
Build 3420688,724 - 697,131NCBI
Celera20835,489 - 844,006 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef20692,137 - 700,684 (-)NCBIHuRef
CHM1_120740,737 - 749,241 (-)NCBICHM1_1
T2T-CHM13v2.020804,408 - 820,382 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11780052   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16344560   PMID:17207965   PMID:19122205   PMID:20206331   PMID:20463145   PMID:20724488   PMID:20729853  
PMID:21512156   PMID:21873635   PMID:22273710   PMID:22471455   PMID:22533825   PMID:22718020   PMID:22791947   PMID:23275236   PMID:23413253   PMID:23506902   PMID:24139842   PMID:24152165  
PMID:24260322   PMID:24264046   PMID:24761851   PMID:25045844   PMID:25394472   PMID:25427582   PMID:26072523   PMID:26154995   PMID:26722538   PMID:27272163   PMID:27472962   PMID:27584688  
PMID:27600099   PMID:28637675   PMID:28912250   PMID:29053833   PMID:29428966   PMID:29715086   PMID:29987050   PMID:30156861   PMID:30553531   PMID:30666517   PMID:30793323   PMID:32814053  
PMID:32888389   PMID:33189404   PMID:34223992   PMID:34384672  


Genomics

Comparative Map Data
SLC52A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820760,080 - 780,033 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl20760,080 - 776,015 (-)EnsemblGRCh38hg38GRCh38
GRCh3720740,724 - 756,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3620688,724 - 697,228 (-)NCBINCBI36hg18NCBI36
Build 3420688,724 - 697,131NCBI
Celera20835,489 - 844,006 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef20692,137 - 700,684 (-)NCBIHuRef
CHM1_120740,737 - 749,241 (-)NCBICHM1_1
T2T-CHM13v2.020804,408 - 820,382 (-)NCBI
Slc52a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392151,838,431 - 151,851,178 (+)NCBIGRCm39mm39
GRCm39 Ensembl2151,838,431 - 151,851,178 (+)Ensembl
GRCm382151,996,511 - 152,009,258 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2151,996,511 - 152,009,258 (+)EnsemblGRCm38mm10GRCm38
MGSCv372151,822,247 - 151,834,994 (+)NCBIGRCm37mm9NCBIm37
MGSCv362151,688,069 - 151,700,697 (+)NCBImm8
Celera2157,812,297 - 157,825,037 (+)NCBICelera
Cytogenetic Map2G3NCBI
Slc52a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23140,498,924 - 140,515,845 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3140,509,473 - 140,514,096 (+)Ensembl
Rnor_6.03147,503,266 - 147,517,935 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,511,406 - 147,516,455 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03153,853,145 - 153,866,321 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,360,661 - 142,365,285 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13142,266,232 - 142,288,334 (+)NCBI
Celera3139,263,935 - 139,268,559 (+)NCBICelera
Cytogenetic Map3q41NCBI
Slc52a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495559647,108 - 60,239 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495559648,463 - 60,239 (-)NCBIChiLan1.0ChiLan1.0
SLC52A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.120739,556 - 755,486 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl20739,556 - 755,486 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v020970,380 - 986,368 (-)NCBIMhudiblu_PPA_v0panPan3
SLC52A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12420,127,527 - 20,141,070 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2420,127,520 - 20,156,003 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2419,780,739 - 19,794,279 (+)NCBI
ROS_Cfam_1.02420,818,447 - 20,831,867 (+)NCBI
ROS_Cfam_1.0 Ensembl2420,818,436 - 20,830,516 (+)Ensembl
UMICH_Zoey_3.12420,094,778 - 20,108,312 (+)NCBI
UNSW_CanFamBas_1.02420,200,464 - 20,214,008 (+)NCBI
UU_Cfam_GSD_1.02420,631,248 - 20,644,641 (+)NCBI
Slc52a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640169,340,088 - 169,345,973 (+)NCBI
SpeTri2.0NW_00493648517,771,797 - 17,777,637 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC52A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,459,359 - 34,481,026 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,459,291 - 34,481,022 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21739,144,206 - 39,161,184 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC52A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1255,744,934 - 55,760,957 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl255,752,837 - 55,761,120 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660788,196,338 - 8,204,817 (-)NCBIVero_WHO_p1.0
Slc52a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247412,097,723 - 2,107,127 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247412,093,190 - 2,106,918 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH80917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720740,726 - 740,930UniSTSGRCh37
Build 3620688,726 - 688,930RGDNCBI36
Celera20835,491 - 835,695RGD
Cytogenetic Map20p13UniSTS
HuRef20692,139 - 692,343UniSTS
GeneMap99-GB4 RH Map204.91UniSTS
RH102145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720741,069 - 741,193UniSTSGRCh37
Build 3620689,069 - 689,193RGDNCBI36
Celera20835,834 - 835,958RGD
Cytogenetic Map20p13UniSTS
HuRef20692,482 - 692,606UniSTS
GeneMap99-GB4 RH Map2011.04UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1808
Count of miRNA genes:770
Interacting mature miRNAs:903
Transcripts:ENST00000217254, ENST00000381944, ENST00000473664, ENST00000488495
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 330 7 15 15 76 17 93 7 146 109 676 73 6 17 26 1
Low 1824 1394 753 239 183 78 2946 1331 3213 244 708 1223 167 1 1067 1644 5 2
Below cutoff 277 1334 896 315 943 315 1279 832 341 57 68 276 1 120 1110

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI244952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX213163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA302552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA358731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX478249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY978478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY978479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN534336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000217254   ⟹   ENSP00000217254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20760,080 - 776,015 (-)Ensembl
RefSeq Acc Id: ENST00000381944   ⟹   ENSP00000371370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20760,080 - 768,633 (-)Ensembl
RefSeq Acc Id: ENST00000473664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20760,080 - 765,825 (-)Ensembl
RefSeq Acc Id: ENST00000488495   ⟹   ENSP00000494009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20760,094 - 768,500 (-)Ensembl
RefSeq Acc Id: ENST00000645534   ⟹   ENSP00000494193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20760,080 - 768,500 (-)Ensembl
RefSeq Acc Id: ENST00000674666   ⟹   ENSP00000502783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20765,641 - 775,985 (-)Ensembl
RefSeq Acc Id: ENST00000675066   ⟹   ENSP00000501902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20762,076 - 768,424 (-)Ensembl
RefSeq Acc Id: ENST00000675466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20767,511 - 775,983 (-)Ensembl
RefSeq Acc Id: ENST00000676154   ⟹   ENSP00000501807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl20763,887 - 775,985 (-)Ensembl
RefSeq Acc Id: NM_001370085   ⟹   NP_001357014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 775,985 (-)NCBI
T2T-CHM13v2.020804,408 - 820,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370086   ⟹   NP_001357015
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 775,985 (-)NCBI
T2T-CHM13v2.020804,408 - 820,382 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033409   ⟹   NP_212134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 768,500 (-)NCBI
GRCh3720740,724 - 756,628 (-)NCBI
Build 3620688,724 - 697,228 (-)NCBI Archive
Celera20835,489 - 844,006 (-)RGD
HuRef20692,137 - 700,684 (-)RGD
CHM1_120740,737 - 749,241 (-)NCBI
T2T-CHM13v2.020804,408 - 812,910 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451821   ⟹   XP_024307589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 774,952 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439867   ⟹   XP_047295823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 773,337 (-)NCBI
RefSeq Acc Id: XM_047439868   ⟹   XP_047295824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820760,080 - 780,033 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_212134   ⟸   NM_033409
- UniProtKB: Q9NQ40 (UniProtKB/Swiss-Prot),   K0A6P4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307589   ⟸   XM_024451821
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001357014   ⟸   NM_001370085
RefSeq Acc Id: NP_001357015   ⟸   NM_001370086
RefSeq Acc Id: ENSP00000217254   ⟸   ENST00000217254
RefSeq Acc Id: ENSP00000371370   ⟸   ENST00000381944
RefSeq Acc Id: ENSP00000494009   ⟸   ENST00000488495
RefSeq Acc Id: ENSP00000494193   ⟸   ENST00000645534
RefSeq Acc Id: ENSP00000502783   ⟸   ENST00000674666
RefSeq Acc Id: ENSP00000501902   ⟸   ENST00000675066
RefSeq Acc Id: ENSP00000501807   ⟸   ENST00000676154
RefSeq Acc Id: XP_047295824   ⟸   XM_047439868
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295823   ⟸   XM_047439867
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQ40-F1-model_v2 AlphaFold Q9NQ40 1-469 view protein structure

Promoters
RGD ID:13206087
Promoter ID:EPDNEW_H26624
Type:initiation region
Name:SLC52A3_1
Description:solute carrier family 52 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
GRCh3820768,500 - 768,560EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000550541] Chr20:765250 [GRCh38]
Chr20:745894 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000549502] Chr20:765744 [GRCh38]
Chr20:746388 [GRCh37]
Chr20:20p13
uncertain significance
SLC52A3, 1198A-C, -2 single nucleotide variant Progressive bulbar palsy of childhood [RCV000024020] Chr20:20p13 pathogenic
SLC52A3, TRP17ARG variation Brown-Vialetto-Van Laere syndrome 1 [RCV000024021]|Brown-Vialetto-Van laere syndrome [RCV000024021] Chr20:20p13 pathogenic
SLC52A3, TYR213TER variation Brown-Vialetto-Van Laere syndrome 1 [RCV000024022]|Brown-Vialetto-Van laere syndrome [RCV000024022] Chr20:20p13 pathogenic
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) deletion Brown-Vialetto-van Laere syndrome 1 [RCV000000162]|not provided [RCV000494398] Chr20:761110..761111 [GRCh38]
Chr20:741754..741755 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000163] Chr20:765564 [GRCh38]
Chr20:746208 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000164] Chr20:765381 [GRCh38]
Chr20:746025 [GRCh37]
Chr20:20p13
pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000165] Chr20:763901 [GRCh38]
Chr20:744545 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000166]|Progressive bulbar palsy of childhood [RCV002247227]|not provided [RCV001560824] Chr20:765669 [GRCh38]
Chr20:746313 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000167]|not specified [RCV000826040] Chr20:761198 [GRCh38]
Chr20:741842 [GRCh37]
Chr20:20p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000000168] Chr20:765693 [GRCh38]
Chr20:746337 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000552024]|not provided [RCV001577531] Chr20:761158 [GRCh38]
Chr20:741802 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000549609]|not provided [RCV001591300]|not specified [RCV000825090] Chr20:763866 [GRCh38]
Chr20:744510 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000555754] Chr20:763638 [GRCh38]
Chr20:744282 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000557473]|not provided [RCV001540821]|not specified [RCV000825236] Chr20:765380 [GRCh38]
Chr20:746024 [GRCh37]
Chr20:20p13
likely benign|uncertain significance
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653712]|not provided [RCV000521405] Chr20:765572 [GRCh38]
Chr20:746216 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000545740] Chr20:763577 [GRCh38]
Chr20:744221 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.3(SLC52A3):c.1073+656G>A single nucleotide variant Lung cancer [RCV000101751] Chr20:762842 [GRCh38]
Chr20:743486 [GRCh37]
Chr20:20p13
uncertain significance
GRCh38/hg38 20p13(chr20:89939-1360110)x1 copy number loss See cases [RCV000050841] Chr20:89939..1360110 [GRCh38]
Chr20:70580..1340754 [GRCh37]
Chr20:18580..1288754 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3 copy number gain See cases [RCV000050986] Chr20:89939..1028206 [GRCh38]
Chr20:70580..1008849 [GRCh37]
Chr20:18580..956849 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13(chr20:89939-975656)x1 copy number loss See cases [RCV000052733] Chr20:89939..975656 [GRCh38]
Chr20:70580..956299 [GRCh37]
Chr20:18580..904299 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22
pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh37/hg19 20p13(chr20:406876-802123)x3 copy number gain See cases [RCV000663384] Chr20:406876..802123 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3 copy number gain See cases [RCV000135794] Chr20:89939..1246891 [GRCh38]
Chr20:70580..1227535 [GRCh37]
Chr20:18580..1175535 [NCBI36]
Chr20:20p13
uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1 copy number loss See cases [RCV000139403] Chr20:80093..1246766 [GRCh38]
Chr20:60734..1227410 [GRCh37]
Chr20:8734..1175410 [NCBI36]
Chr20:20p13
pathogenic
GRCh38/hg38 20p13(chr20:364204-879317)x3 copy number gain See cases [RCV000139812] Chr20:364204..879317 [GRCh38]
Chr20:344848..859960 [GRCh37]
Chr20:292848..807960 [NCBI36]
Chr20:20p13
uncertain significance
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13
uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3
uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1 copy number loss See cases [RCV000142919] Chr20:80106..1246891 [GRCh38]
Chr20:60747..1227535 [GRCh37]
Chr20:8747..1175535 [NCBI36]
Chr20:20p13
likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13
likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191956] Chr20:765726 [GRCh38]
Chr20:746370 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191957]|Progressive bulbar palsy of childhood [RCV001770141]|not provided [RCV001589066]|not specified [RCV000790977] Chr20:765713 [GRCh38]
Chr20:746357 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191958] Chr20:765615 [GRCh38]
Chr20:746259 [GRCh37]
Chr20:20p13
pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191959] Chr20:765602 [GRCh38]
Chr20:746246 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191960] Chr20:765564 [GRCh38]
Chr20:746208 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191961] Chr20:765551 [GRCh38]
Chr20:746195 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.3(SLC52A3):c.568-19_568-18insCTGATTGAC insertion Brown-Vialetto-Van Laere syndrome 1 [RCV000191962]|Brown-Vialetto-Van laere syndrome [RCV000191962] Chr20:20p13 pathogenic
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191963]|Progressive bulbar palsy of childhood [RCV002247619] Chr20:763932 [GRCh38]
Chr20:744576 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191964] Chr20:763912 [GRCh38]
Chr20:744556 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191965]|not provided [RCV000483942] Chr20:763775 [GRCh38]
Chr20:744419 [GRCh37]
Chr20:20p13
pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191966] Chr20:763636 [GRCh38]
Chr20:744280 [GRCh37]
Chr20:20p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191967] Chr20:763616 [GRCh38]
Chr20:744260 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191968] Chr20:763582 [GRCh38]
Chr20:744226 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191969]|not provided [RCV000514570]|not specified [RCV000604517] Chr20:763523 [GRCh38]
Chr20:744167 [GRCh37]
Chr20:20p13
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_033409.4(SLC52A3):c.1198-2A>C single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191970]|Progressive bulbar palsy of childhood [RCV000024020] Chr20:761240 [GRCh38]
Chr20:741884 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191972] Chr20:761140 [GRCh38]
Chr20:741784 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.3:c.1325_1326delTG deletion Brown-Vialetto-Van Laere syndrome 1 [RCV000191973]|Brown-Vialetto-Van laere syndrome [RCV000191973] Chr20:20p13 pathogenic
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191974]|not provided [RCV000493823] Chr20:761065 [GRCh38]
Chr20:741709 [GRCh37]
Chr20:20p13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001869811]|not provided [RCV001823390] Chr20:765401 [GRCh38]
Chr20:746045 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191976]|not provided [RCV001753593] Chr20:765372 [GRCh38]
Chr20:746016 [GRCh37]
Chr20:20p13
pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000191977]|not specified [RCV001195405] Chr20:763937 [GRCh38]
Chr20:744581 [GRCh37]
Chr20:20p13
pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) single nucleotide variant Brown-Vialetto-Van Laere syndrome 1 [RCV000191978] Chr20:763900 [GRCh38]
Chr20:744544 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.3:c.1128-1129_insT insertion Brown-Vialetto-Van Laere syndrome 1 [RCV000191979] Chr20:20p13 pathogenic
NM_033409.4(SLC52A3):c.1255G>A (p.Val419Met) single nucleotide variant Brown-Vialetto-Van Laere syndrome 1 [RCV000191980] Chr20:761181 [GRCh38]
Chr20:741825 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1293G>A (p.Trp431Ter) single nucleotide variant Brown-Vialetto-Van Laere syndrome 1 [RCV000191981] Chr20:761143 [GRCh38]
Chr20:741787 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000546514]|not provided [RCV000762335] Chr20:761055 [GRCh38]
Chr20:741699 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3
pathogenic
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000559040] Chr20:765581 [GRCh38]
Chr20:746225 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000578156] Chr20:761120 [GRCh38]
Chr20:741764 [GRCh37]
Chr20:20p13
likely pathogenic
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000552608]|not provided [RCV002253510] Chr20:763626 [GRCh38]
Chr20:744270 [GRCh37]
Chr20:20p13
likely benign
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001516818]|Progressive bulbar palsy of childhood [RCV001544333]|not provided [RCV000836069]|not specified [RCV000244024] Chr20:761203 [GRCh38]
Chr20:741847 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.*16del deletion not provided [RCV001660354]|not specified [RCV000244346] Chr20:761010 [GRCh38]
Chr20:741654 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000554051]|not provided [RCV001660355]|not specified [RCV000246921] Chr20:765766 [GRCh38]
Chr20:746410 [GRCh37]
Chr20:20p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001510810]|not provided [RCV001711837]|not specified [RCV000249280] Chr20:765319 [GRCh38]
Chr20:745963 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001523330]|not provided [RCV001538142]|not specified [RCV000242118] Chr20:763664 [GRCh38]
Chr20:744308 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001516820]|Progressive bulbar palsy of childhood [RCV001544410]|not provided [RCV001538839]|not specified [RCV000244524] Chr20:765454 [GRCh38]
Chr20:746098 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000543583]|not provided [RCV001711836]|not specified [RCV000254378] Chr20:765535 [GRCh38]
Chr20:746179 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001510811]|not provided [RCV001537335]|not specified [RCV000249592] Chr20:765553 [GRCh38]
Chr20:746197 [GRCh37]
Chr20:20p13
benign|likely benign|conflicting interpretations of pathogenicity
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001516349]|not provided [RCV000836079]|not specified [RCV000249785] Chr20:763926 [GRCh38]
Chr20:744570 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1073+21A>T single nucleotide variant not provided [RCV001636824]|not specified [RCV000252259] Chr20:763477 [GRCh38]
Chr20:744121 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000541843]|not provided [RCV001689926]|not specified [RCV000245038] Chr20:763971 [GRCh38]
Chr20:744615 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.-14_-6del deletion Brown-Vialetto-van Laere syndrome 1 [RCV001544412]|Progressive bulbar palsy of childhood [RCV001544411]|not provided [RCV001618473]|not specified [RCV000247507] Chr20:765780..765788 [GRCh38]
Chr20:746424..746432 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001523331]|not provided [RCV001640575]|not specified [RCV000250284] Chr20:763738 [GRCh38]
Chr20:744382 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001516819]|not provided [RCV001610741]|not specified [RCV000245544] Chr20:763771 [GRCh38]
Chr20:744415 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001521145]|Progressive bulbar palsy of childhood [RCV001544340]|not provided [RCV001598643]|not specified [RCV000252910] Chr20:763806 [GRCh38]
Chr20:744450 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC insertion Brown-Vialetto-van Laere syndrome 1 [RCV000191962]|not provided [RCV001597026]|not specified [RCV000253239] Chr20:764018..764019 [GRCh38]
Chr20:744662..744663 [GRCh37]
Chr20:20p13
pathogenic|benign
NM_033409.4(SLC52A3):c.1074-76C>T single nucleotide variant not provided [RCV001566359] Chr20:761900 [GRCh38]
Chr20:742544 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro) single nucleotide variant Inborn genetic diseases [RCV000623851] Chr20:761123 [GRCh38]
Chr20:741767 [GRCh37]
Chr20:20p13
likely pathogenic
Single allele single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000551008] Chr20:759188 [GRCh38]
Chr20:739832 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000532601] Chr20:761125 [GRCh38]
Chr20:741769 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000538591] Chr20:763677 [GRCh38]
Chr20:744321 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000540477] Chr20:761073 [GRCh38]
Chr20:741717 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13(chr20:652426-889990)x3 copy number gain See cases [RCV000446160] Chr20:652426..889990 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-806878)x1 copy number loss See cases [RCV000447172] Chr20:61568..806878 [GRCh37]
Chr20:20p13
likely pathogenic
NM_033409.4(SLC52A3):c.1223G>A (p.Gly408Asp) single nucleotide variant not provided [RCV000431504] Chr20:761213 [GRCh38]
Chr20:741857 [GRCh37]
Chr20:20p13
likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13
pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3
uncertain significance
GRCh37/hg19 20p13(chr20:381794-1268103)x3 copy number gain See cases [RCV000510434] Chr20:381794..1268103 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13
likely pathogenic
NM_033409.4(SLC52A3):c.1334T>G (p.Leu445Arg) single nucleotide variant not provided [RCV000494168] Chr20:761102 [GRCh38]
Chr20:741746 [GRCh37]
Chr20:20p13
likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_033409.4(SLC52A3):c.-52+394T>C single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000534045] Chr20:767903 [GRCh38]
Chr20:748547 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000524717]|not specified [RCV000615203] Chr20:765229 [GRCh38]
Chr20:745873 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000560391] Chr20:765525 [GRCh38]
Chr20:746169 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000529622] Chr20:761062 [GRCh38]
Chr20:741706 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000537910]|not provided [RCV001544835]|not specified [RCV000825091] Chr20:765254 [GRCh38]
Chr20:745898 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000539683]|not provided [RCV001553511] Chr20:763635 [GRCh38]
Chr20:744279 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000539545]|not provided [RCV001662605] Chr20:761166 [GRCh38]
Chr20:741810 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001860345]|not specified [RCV000609830] Chr20:765681 [GRCh38]
Chr20:746325 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000540318]|not provided [RCV001562785]|not specified [RCV001449782] Chr20:763524 [GRCh38]
Chr20:744168 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653711] Chr20:765641 [GRCh38]
Chr20:746285 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653713] Chr20:765635 [GRCh38]
Chr20:746279 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653714] Chr20:761749 [GRCh38]
Chr20:742393 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653715]|not provided [RCV001731846] Chr20:763678 [GRCh38]
Chr20:744322 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653716] Chr20:763943 [GRCh38]
Chr20:744587 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653717]|not specified [RCV000825830] Chr20:765412 [GRCh38]
Chr20:746056 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653718] Chr20:763584 [GRCh38]
Chr20:744228 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653719] Chr20:765337 [GRCh38]
Chr20:745981 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001487092]|not provided [RCV000653720] Chr20:763770 [GRCh38]
Chr20:744414 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653721]|not provided [RCV001310442]|not specified [RCV000825831] Chr20:765436 [GRCh38]
Chr20:746080 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653722] Chr20:763953 [GRCh38]
Chr20:744597 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653723] Chr20:761803 [GRCh38]
Chr20:742447 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000653724] Chr20:765534 [GRCh38]
Chr20:746178 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001446085]|not provided [RCV000525748] Chr20:763737 [GRCh38]
Chr20:744381 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) single nucleotide variant not provided [RCV000530967] Chr20:765565 [GRCh38]
Chr20:746209 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000533298]|not provided [RCV001555775] Chr20:763590 [GRCh38]
Chr20:744234 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000536570] Chr20:765456 [GRCh38]
Chr20:746100 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2
likely pathogenic
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001868146]|Inborn genetic diseases [RCV000622896] Chr20:761742 [GRCh38]
Chr20:742386 [GRCh37]
Chr20:20p13
likely pathogenic|uncertain significance
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13
likely pathogenic
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000701984] Chr20:765770 [GRCh38]
Chr20:746414 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000690964] Chr20:763681 [GRCh38]
Chr20:744325 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000705759] Chr20:761235 [GRCh38]
Chr20:741879 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000692067] Chr20:761796 [GRCh38]
Chr20:742440 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000689538] Chr20:765503 [GRCh38]
Chr20:746147 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000689783] Chr20:765258 [GRCh38]
Chr20:745902 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000695451] Chr20:765640 [GRCh38]
Chr20:746284 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000695538] Chr20:763925 [GRCh38]
Chr20:744569 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000704874] Chr20:763621 [GRCh38]
Chr20:744265 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000696012] Chr20:763657 [GRCh38]
Chr20:744301 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000703005] Chr20:763784 [GRCh38]
Chr20:744428 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_033409.4(SLC52A3):c.1053C>T (p.Val351=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001452561]|not provided [RCV000978161] Chr20:763518 [GRCh38]
Chr20:744162 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.753del (p.Val252fs) deletion Brown-Vialetto-van Laere syndrome 1 [RCV000761355] Chr20:763818 [GRCh38]
Chr20:744462 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic
NM_033409.4(SLC52A3):c.1154C>T (p.Pro385Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000761460] Chr20:761744 [GRCh38]
Chr20:742388 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1197+106A>G single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001544337]|Progressive bulbar palsy of childhood [RCV001544336]|not provided [RCV001655865] Chr20:761595 [GRCh38]
Chr20:742239 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1073+92T>C single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001544339]|Progressive bulbar palsy of childhood [RCV001544338]|not provided [RCV001685495] Chr20:763406 [GRCh38]
Chr20:744050 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.795C>A (p.Ile265=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001470229]|not provided [RCV000928412] Chr20:763776 [GRCh38]
Chr20:744420 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000878393] Chr20:763866 [GRCh38]
Chr20:744510 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000877333] Chr20:763860 [GRCh38]
Chr20:744504 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.510T>C (p.Thr170=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001428678]|not provided [RCV000876524] Chr20:765265 [GRCh38]
Chr20:745909 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000906086] Chr20:765592 [GRCh38]
Chr20:746236 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.979C>T (p.Leu327=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001497131]|not provided [RCV000900982] Chr20:763592 [GRCh38]
Chr20:744236 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001061397]|Progressive bulbar palsy of childhood [RCV001197661] Chr20:765717 [GRCh38]
Chr20:746361 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.394C>A (p.Arg132=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001062482] Chr20:765381 [GRCh38]
Chr20:746025 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001051448]|not provided [RCV001552328] Chr20:763625 [GRCh38]
Chr20:744269 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-1305971)x1 copy number loss not provided [RCV001007067] Chr20:61568..1305971 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001039519]|not provided [RCV001540911] Chr20:761726 [GRCh38]
Chr20:742370 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.858G>T (p.Gly286=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001396203]|not provided [RCV000908503] Chr20:763713 [GRCh38]
Chr20:744357 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000919652] Chr20:765472 [GRCh38]
Chr20:746116 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.483C>T (p.Ser161=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001447425]|not provided [RCV000877626] Chr20:765292 [GRCh38]
Chr20:745936 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000813861] Chr20:761110 [GRCh38]
Chr20:741754 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup) insertion Brown-Vialetto-van Laere syndrome 1 [RCV000806639] Chr20:761032..761033 [GRCh38]
Chr20:741676..741677 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000810466] Chr20:763865 [GRCh38]
Chr20:744509 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000816068] Chr20:763817 [GRCh38]
Chr20:744461 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000871371] Chr20:763956 [GRCh38]
Chr20:744600 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000819738] Chr20:765260 [GRCh38]
Chr20:745904 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr) single nucleotide variant not specified [RCV000826041] Chr20:763562 [GRCh38]
Chr20:744206 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000821600] Chr20:761102 [GRCh38]
Chr20:741746 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter) single nucleotide variant Progressive bulbar palsy of childhood [RCV000985191]|not provided [RCV001784483] Chr20:765704 [GRCh38]
Chr20:746348 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic
NC_000020.11:g.(?_761006)_(765794_?)del deletion Brown-Vialetto-van Laere syndrome 1 [RCV000793484] Chr20:761006..765794 [GRCh38]
Chr20:741650..746438 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000877830]|not provided [RCV001574251]|not specified [RCV000825234] Chr20:765678 [GRCh38]
Chr20:746322 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000937677] Chr20:765277 [GRCh38]
Chr20:745921 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del) deletion Brown-Vialetto-van Laere syndrome 1 [RCV000800099] Chr20:761098..761109 [GRCh38]
Chr20:741742..741753 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:728577-1237670)x4 copy number gain not provided [RCV000849650] Chr20:728577..1237670 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=) single nucleotide variant not specified [RCV000825237] Chr20:761173 [GRCh38]
Chr20:741817 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.*12A>G single nucleotide variant not specified [RCV000825829] Chr20:761014 [GRCh38]
Chr20:741658 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000792095] Chr20:765448 [GRCh38]
Chr20:746092 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000811184] Chr20:761063 [GRCh38]
Chr20:741707 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000795720]|not provided [RCV001759504] Chr20:765276 [GRCh38]
Chr20:745920 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000806603] Chr20:763843 [GRCh38]
Chr20:744487 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000821766] Chr20:765525 [GRCh38]
Chr20:746169 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000822051] Chr20:763970 [GRCh38]
Chr20:744614 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000872933]|not specified [RCV000825235] Chr20:765712 [GRCh38]
Chr20:746356 [GRCh37]
Chr20:20p13
benign|likely benign
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000796543] Chr20:761738 [GRCh38]
Chr20:742382 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.*13C>A single nucleotide variant not specified [RCV000825828] Chr20:761013 [GRCh38]
Chr20:741657 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1198-6C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000875108] Chr20:761244 [GRCh38]
Chr20:741888 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.378C>T (p.Phe126=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001503719]|not provided [RCV000916354] Chr20:765397 [GRCh38]
Chr20:746041 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1329A>G (p.Gly443=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001469379]|not provided [RCV000979363] Chr20:761107 [GRCh38]
Chr20:741751 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000803756]|not provided [RCV001797145] Chr20:763768 [GRCh38]
Chr20:744412 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000875408] Chr20:765331 [GRCh38]
Chr20:745975 [GRCh37]
Chr20:20p13
likely benign
NC_000020.10:g.(?_741650)_(746438_?)dup duplication Brown-Vialetto-van Laere syndrome 1 [RCV000807915] Chr20:761006..765794 [GRCh38]
Chr20:741650..746438 [GRCh37]
Chr20:20p13
uncertain significance
NC_000020.11:g.(?_408719)_(765794_?)dup duplication Polyglucosan body myopathy type 1 [RCV001032626] Chr20:389363..746438 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:288904-874280)x3 copy number gain not provided [RCV000848132] Chr20:288904..874280 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.927C>T (p.Phe309=) single nucleotide variant not specified [RCV001195345] Chr20:763644 [GRCh38]
Chr20:744288 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.215T>A (p.Val72Glu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001211660] Chr20:765560 [GRCh38]
Chr20:746204 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.514A>G (p.Ile172Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001234207] Chr20:765261 [GRCh38]
Chr20:745905 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001227311] Chr20:765488 [GRCh38]
Chr20:746132 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001242763] Chr20:765750 [GRCh38]
Chr20:746394 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001223361] Chr20:761721 [GRCh38]
Chr20:742365 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001065380] Chr20:765727 [GRCh38]
Chr20:746371 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001203115]|Madras motor neuron disease [RCV001095540] Chr20:763769 [GRCh38]
Chr20:744413 [GRCh37]
Chr20:20p13
likely pathogenic|uncertain significance
NM_033409.4(SLC52A3):c.568-200T>C single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001544409]|Progressive bulbar palsy of childhood [RCV001544408]|not provided [RCV001673177] Chr20:764203 [GRCh38]
Chr20:744847 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002032565]|not provided [RCV001546827] Chr20:765291 [GRCh38]
Chr20:745935 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.-51-124dup duplication not provided [RCV001670396] Chr20:765937..765938 [GRCh38]
Chr20:746581..746582 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.954G>A (p.Leu318=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001475102]|not provided [RCV000930238] Chr20:763617 [GRCh38]
Chr20:744261 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1272C>G (p.Leu424=) single nucleotide variant not provided [RCV000944698] Chr20:761164 [GRCh38]
Chr20:741808 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000874911] Chr20:761236 [GRCh38]
Chr20:741880 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000876463]|not provided [RCV001593107] Chr20:763769 [GRCh38]
Chr20:744413 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000933427] Chr20:765745 [GRCh38]
Chr20:746389 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000872431] Chr20:765250 [GRCh38]
Chr20:745894 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1105C>T (p.Leu369Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001221952] Chr20:761793 [GRCh38]
Chr20:742437 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.526G>A (p.Val176Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001222998]|not provided [RCV001546780] Chr20:765249 [GRCh38]
Chr20:745893 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1130A>T (p.Asn377Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001243679] Chr20:761768 [GRCh38]
Chr20:742412 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1198-2A>G single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001206450] Chr20:761240 [GRCh38]
Chr20:741884 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.228C>T (p.Phe76=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001401089]|not provided [RCV000935592] Chr20:765547 [GRCh38]
Chr20:746191 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.54G>A (p.Val18=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV000935693] Chr20:765721 [GRCh38]
Chr20:746365 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.*284G>A single nucleotide variant not provided [RCV001570624] Chr20:760742 [GRCh38]
Chr20:741386 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001065708] Chr20:761703 [GRCh38]
Chr20:742347 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.568-227C>T single nucleotide variant not provided [RCV001722786] Chr20:764230 [GRCh38]
Chr20:744874 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1073+315C>T single nucleotide variant not provided [RCV001660994] Chr20:763183 [GRCh38]
Chr20:743827 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1074-275G>A single nucleotide variant not provided [RCV001588120] Chr20:762099 [GRCh38]
Chr20:742743 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1197+128G>C single nucleotide variant not provided [RCV001722782] Chr20:761573 [GRCh38]
Chr20:742217 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.567+169G>A single nucleotide variant not provided [RCV001722783] Chr20:765039 [GRCh38]
Chr20:745683 [GRCh37]
Chr20:20p13
benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p13(chr20:63244-813880)x1 copy number loss See cases [RCV001194569] Chr20:63244..813880 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1074-163T>C single nucleotide variant not provided [RCV001616929] Chr20:761987 [GRCh38]
Chr20:742631 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.485G>T (p.Gly162Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001047843] Chr20:765290 [GRCh38]
Chr20:745934 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1073+110T>A single nucleotide variant not provided [RCV001680177] Chr20:763388 [GRCh38]
Chr20:744032 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1197+108C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001544335]|Progressive bulbar palsy of childhood [RCV001544334]|not provided [RCV001720314] Chr20:761593 [GRCh38]
Chr20:742237 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1074-248T>G single nucleotide variant not provided [RCV001648520] Chr20:762072 [GRCh38]
Chr20:742716 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1197+93C>T single nucleotide variant not provided [RCV001583931] Chr20:761608 [GRCh38]
Chr20:742252 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1074-243T>C single nucleotide variant not provided [RCV001585148] Chr20:762067 [GRCh38]
Chr20:742711 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup) duplication Brown-Vialetto-van Laere syndrome 1 [RCV001206451] Chr20:761097..761098 [GRCh38]
Chr20:741741..741742 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001217366] Chr20:763952 [GRCh38]
Chr20:744596 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001060129] Chr20:765470 [GRCh38]
Chr20:746114 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001060855]|not provided [RCV001593240] Chr20:763676 [GRCh38]
Chr20:744320 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.457G>A (p.Ala153Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001061184] Chr20:765318 [GRCh38]
Chr20:745962 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.525C>A (p.Ser175Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001057369] Chr20:765250 [GRCh38]
Chr20:745894 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001053839] Chr20:763693 [GRCh38]
Chr20:744337 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001214730] Chr20:761235 [GRCh38]
Chr20:741879 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001859176]|not specified [RCV001195346] Chr20:763620 [GRCh38]
Chr20:744264 [GRCh37]
Chr20:20p13
likely benign|uncertain significance
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001202337]|not provided [RCV001586041] Chr20:763706 [GRCh38]
Chr20:744350 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001041237] Chr20:763738 [GRCh38]
Chr20:744382 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.304G>A (p.Gly102Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001059778] Chr20:765471 [GRCh38]
Chr20:746115 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.37G>A (p.Gly13Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001039792] Chr20:765738 [GRCh38]
Chr20:746382 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001038531] Chr20:765650 [GRCh38]
Chr20:746294 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001248146] Chr20:761706 [GRCh38]
Chr20:742350 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.829G>A (p.Gly277Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001215730] Chr20:763742 [GRCh38]
Chr20:744386 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.311A>G (p.His104Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001063710] Chr20:765464 [GRCh38]
Chr20:746108 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1197+18G>A single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002001631] Chr20:761683 [GRCh38]
Chr20:742327 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.797G>A (p.Arg266Gln) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001299238] Chr20:763774 [GRCh38]
Chr20:744418 [GRCh37]
Chr20:20p13
uncertain significance
NC_000020.10:g.741847_741848insCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG insertion Brown-Vialetto-van Laere syndrome 1 [RCV001349642] Chr20:761203..761204 [GRCh38]
Chr20:741847..741848 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.857G>A (p.Gly286Glu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001340035] Chr20:763714 [GRCh38]
Chr20:744358 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.130C>A (p.Leu44Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001352458] Chr20:765645 [GRCh38]
Chr20:746289 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1093G>C (p.Val365Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001309403] Chr20:761805 [GRCh38]
Chr20:742449 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.974C>T (p.Ser325Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001343916] Chr20:763597 [GRCh38]
Chr20:744241 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001338083] Chr20:765297 [GRCh38]
Chr20:745941 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1037C>G (p.Pro346Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001369144] Chr20:763534 [GRCh38]
Chr20:744178 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.727C>A (p.Arg243Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001316925] Chr20:763844 [GRCh38]
Chr20:744488 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001383229] Chr20:765225 [GRCh38]
Chr20:745869 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.383C>T (p.Pro128Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001312662] Chr20:765392 [GRCh38]
Chr20:746036 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1276C>T (p.Arg426Cys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001320117] Chr20:761160 [GRCh38]
Chr20:741804 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.661C>A (p.Leu221Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001345328] Chr20:763910 [GRCh38]
Chr20:744554 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1265G>A (p.Arg422His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001363528] Chr20:761171 [GRCh38]
Chr20:741815 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.965A>G (p.Gln322Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001298670] Chr20:763606 [GRCh38]
Chr20:744250 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.303C>A (p.Asp101Glu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001368200] Chr20:765472 [GRCh38]
Chr20:746116 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.130C>T (p.Leu44Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001299669] Chr20:765645 [GRCh38]
Chr20:746289 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.763C>T (p.Leu255Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001348455] Chr20:763808 [GRCh38]
Chr20:744452 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1000T>C (p.Tyr334His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001325168] Chr20:763571 [GRCh38]
Chr20:744215 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:67778-974841) copy number loss Global developmental delay [RCV001352667] Chr20:67778..974841 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.959C>G (p.Ser320Cys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001340863] Chr20:763612 [GRCh38]
Chr20:744256 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.384G>A (p.Pro128=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001412629] Chr20:765391 [GRCh38]
Chr20:746035 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.901G>A (p.Ala301Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001316285] Chr20:763670 [GRCh38]
Chr20:744314 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001369318] Chr20:761135 [GRCh38]
Chr20:741779 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1062C>G (p.Phe354Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001365658] Chr20:763509 [GRCh38]
Chr20:744153 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.753C>T (p.Ser251=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001475493] Chr20:763818 [GRCh38]
Chr20:744462 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.414C>G (p.Leu138=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001462779] Chr20:765361 [GRCh38]
Chr20:746005 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.568-4G>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001440176] Chr20:764007 [GRCh38]
Chr20:744651 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.249C>T (p.Thr83=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001497581] Chr20:765526 [GRCh38]
Chr20:746170 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.568-182C>T single nucleotide variant not provided [RCV001643611] Chr20:764185 [GRCh38]
Chr20:744829 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.1122G>A (p.Gly374=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001446301] Chr20:761776 [GRCh38]
Chr20:742420 [GRCh37]
Chr20:20p13
likely benign
NC_000020.10:g.(?_745957)_749607del deletion Brown-Vialetto-van Laere syndrome 1 [RCV001380368]   pathogenic
NM_033409.4(SLC52A3):c.546G>T (p.Thr182=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001430798] Chr20:765229 [GRCh38]
Chr20:745873 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1083G>A (p.Leu361=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001446869] Chr20:761815 [GRCh38]
Chr20:742459 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.558C>T (p.Asp186=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001439348] Chr20:765217 [GRCh38]
Chr20:745861 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1359G>A (p.Val453=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001405234] Chr20:761077 [GRCh38]
Chr20:741721 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1198-8C>A single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001445517] Chr20:761246 [GRCh38]
Chr20:741890 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.765C>G (p.Leu255=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001427490] Chr20:763806 [GRCh38]
Chr20:744450 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.174C>G (p.Val58=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001463410] Chr20:765601 [GRCh38]
Chr20:746245 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1014C>T (p.Ala338=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001482918] Chr20:763557 [GRCh38]
Chr20:744201 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1260C>A (p.Val420=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001464861] Chr20:761176 [GRCh38]
Chr20:741820 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.774C>T (p.Asp258=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001464564] Chr20:763797 [GRCh38]
Chr20:744441 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1073+10C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001429619] Chr20:763488 [GRCh38]
Chr20:744132 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001466100] Chr20:761068 [GRCh38]
Chr20:741712 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001400208] Chr20:763974 [GRCh38]
Chr20:744618 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.85del (p.Leu29fs) deletion Brown-Vialetto-van Laere syndrome 1 [RCV001387225] Chr20:765690 [GRCh38]
Chr20:746334 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.639C>T (p.Tyr213=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001400159] Chr20:763932 [GRCh38]
Chr20:744576 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.195G>A (p.Arg65=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001488853] Chr20:765580 [GRCh38]
Chr20:746224 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1353C>G (p.Val451=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001489094] Chr20:761083 [GRCh38]
Chr20:741727 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.441C>A (p.Leu147=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001398843] Chr20:765334 [GRCh38]
Chr20:745978 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001455171] Chr20:761170 [GRCh38]
Chr20:741814 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001468375] Chr20:761148 [GRCh38]
Chr20:741792 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp) single nucleotide variant Progressive bulbar palsy of childhood [RCV002246725] Chr20:765329 [GRCh38]
Chr20:745973 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001774818] Chr20:763861 [GRCh38]
Chr20:744505 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001774819] Chr20:763585 [GRCh38]
Chr20:744229 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.659C>T (p.Pro220Leu) single nucleotide variant not provided [RCV001752422] Chr20:763912 [GRCh38]
Chr20:744556 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV001771582] Chr20:765330 [GRCh38]
Chr20:745974 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.-85A>G single nucleotide variant not provided [RCV001762797] Chr20:768330 [GRCh38]
Chr20:748974 [GRCh37]
Chr20:20p13
benign
NM_033409.4(SLC52A3):c.983C>T (p.Ser328Phe) single nucleotide variant not provided [RCV001768803] Chr20:763588 [GRCh38]
Chr20:744232 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-806878) copy number loss not specified [RCV002052694] Chr20:61568..806878 [GRCh37]
Chr20:20p13
likely pathogenic
NC_000020.10:g.(?_389402)_(746418_?)dup duplication Polyglucosan body myopathy type 1 [RCV001973642]|not provided [RCV002007714] Chr20:389402..746418 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.94A>G (p.Met32Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002006901] Chr20:765681 [GRCh38]
Chr20:746325 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.554C>A (p.Thr185Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001863736] Chr20:765221 [GRCh38]
Chr20:745865 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1084T>C (p.Phe362Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001910127] Chr20:761814 [GRCh38]
Chr20:742458 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.193C>T (p.Arg65Trp) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002024336] Chr20:765582 [GRCh38]
Chr20:746226 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:242496-742740) copy number gain not specified [RCV002052696] Chr20:242496..742740 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.491C>A (p.Thr164Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001893326] Chr20:765284 [GRCh38]
Chr20:745928 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1306G>A (p.Val436Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002023451] Chr20:761130 [GRCh38]
Chr20:741774 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002005259] Chr20:763643 [GRCh38]
Chr20:744287 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.320C>G (p.Ala107Gly) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001890684] Chr20:765455 [GRCh38]
Chr20:746099 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1333C>G (p.Leu445Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001892785] Chr20:761103 [GRCh38]
Chr20:741747 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1074-50del deletion not provided [RCV001837158] Chr20:761874 [GRCh38]
Chr20:742518 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1336C>T (p.Leu446Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001890582] Chr20:761100 [GRCh38]
Chr20:741744 [GRCh37]
Chr20:20p13
uncertain significance
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.1254C>T (p.Gly418=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001927856] Chr20:761182 [GRCh38]
Chr20:741826 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001907487] Chr20:761210 [GRCh38]
Chr20:741854 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.592G>A (p.Ala198Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001982212] Chr20:763979 [GRCh38]
Chr20:744623 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.545C>T (p.Thr182Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002000576] Chr20:765230 [GRCh38]
Chr20:745874 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1248G>A (p.Met416Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002035755] Chr20:761188 [GRCh38]
Chr20:741832 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1093G>T (p.Val365Phe) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002037345] Chr20:761805 [GRCh38]
Chr20:742449 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.238G>A (p.Gly80Ser) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001973556] Chr20:765537 [GRCh38]
Chr20:746181 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.95T>C (p.Met32Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001887037] Chr20:765680 [GRCh38]
Chr20:746324 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.463G>T (p.Val155Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001978555] Chr20:765312 [GRCh38]
Chr20:745956 [GRCh37]
Chr20:20p13
uncertain significance
NC_000020.10:g.(?_389402)_(746418_?)del deletion Brown-Vialetto-van Laere syndrome 1 [RCV001900457]|not provided [RCV001877503] Chr20:389402..746418 [GRCh37]
Chr20:20p13
pathogenic
NC_000020.10:g.(?_741670)_(746418_?)dup duplication Brown-Vialetto-van Laere syndrome 1 [RCV001990079] Chr20:741670..746418 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1086C>G (p.Phe362Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001900703] Chr20:761812 [GRCh38]
Chr20:742456 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.814G>C (p.Asp272His) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001881307] Chr20:763757 [GRCh38]
Chr20:744401 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.746A>G (p.Glu249Gly) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001865127] Chr20:763825 [GRCh38]
Chr20:744469 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1340T>C (p.Met447Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001952635] Chr20:761096 [GRCh38]
Chr20:741740 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.3G>A (p.Met1Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001932045] Chr20:765772 [GRCh38]
Chr20:746416 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.269C>T (p.Ala90Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001882221] Chr20:765506 [GRCh38]
Chr20:746150 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1233T>G (p.Ser411Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001975291] Chr20:761203 [GRCh38]
Chr20:741847 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1139T>C (p.Met380Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002050849] Chr20:761759 [GRCh38]
Chr20:742403 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.599C>T (p.Pro200Leu) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001935192] Chr20:763972 [GRCh38]
Chr20:744616 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.70T>C (p.Trp24Arg) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002019595] Chr20:765705 [GRCh38]
Chr20:746349 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001938721] Chr20:761802 [GRCh38]
Chr20:742446 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.314G>A (p.Ser105Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001935708] Chr20:765461 [GRCh38]
Chr20:746105 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.814G>A (p.Asp272Asn) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001990782] Chr20:763757 [GRCh38]
Chr20:744401 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.151G>A (p.Ala51Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002019275] Chr20:765624 [GRCh38]
Chr20:746268 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.481_484dup (p.Gly162fs) duplication Brown-Vialetto-van Laere syndrome 1 [RCV001957312] Chr20:765290..765291 [GRCh38]
Chr20:745934..745935 [GRCh37]
Chr20:20p13
pathogenic
NM_033409.4(SLC52A3):c.827C>T (p.Ala276Val) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001998435] Chr20:763744 [GRCh38]
Chr20:744388 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1189G>A (p.Val397Ile) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002036026] Chr20:761709 [GRCh38]
Chr20:742353 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1204T>A (p.Ser402Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001977545] Chr20:761232 [GRCh38]
Chr20:741876 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001974084] Chr20:763544 [GRCh38]
Chr20:744188 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.567+6C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001937702] Chr20:765202 [GRCh38]
Chr20:745846 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002029381] Chr20:765213 [GRCh38]
Chr20:745857 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001879565] Chr20:761029 [GRCh38]
Chr20:741673 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.352G>A (p.Val118Met) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV001916099] Chr20:765423 [GRCh38]
Chr20:746067 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.667TTC[1] (p.Phe224del) microsatellite Brown-Vialetto-van Laere syndrome 1 [RCV002050967] Chr20:763899..763901 [GRCh38]
Chr20:744543..744545 [GRCh37]
Chr20:20p13
uncertain significance
NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002088954] Chr20:763524 [GRCh38]
Chr20:744168 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.567+15C>A single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002204988] Chr20:765193 [GRCh38]
Chr20:745837 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.567+16C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002075131] Chr20:765192 [GRCh38]
Chr20:745836 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1215T>C (p.Leu405=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002108579] Chr20:761221 [GRCh38]
Chr20:741865 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1197+10C>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002110644] Chr20:761691 [GRCh38]
Chr20:742335 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002090095] Chr20:761215 [GRCh38]
Chr20:741859 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.891G>C (p.Pro297=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002108258] Chr20:763680 [GRCh38]
Chr20:744324 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.468T>C (p.Ala156=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002197451] Chr20:765307 [GRCh38]
Chr20:745951 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.771T>C (p.Asn257=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002205367] Chr20:763800 [GRCh38]
Chr20:744444 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.414C>A (p.Leu138=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002195570] Chr20:765361 [GRCh38]
Chr20:746005 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1143G>A (p.Ala381=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002152327] Chr20:761755 [GRCh38]
Chr20:742399 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1212G>A (p.Val404=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002131607] Chr20:761224 [GRCh38]
Chr20:741868 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1073+16G>A single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002200782] Chr20:763482 [GRCh38]
Chr20:744126 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1197+14C>G single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002118299] Chr20:761687 [GRCh38]
Chr20:742331 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1197+15G>T single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002164396] Chr20:761686 [GRCh38]
Chr20:742330 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.432T>C (p.Gly144=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002155602] Chr20:765343 [GRCh38]
Chr20:745987 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.105C>T (p.Pro35=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002117557] Chr20:765670 [GRCh38]
Chr20:746314 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.1320G>A (p.Ser440=) single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002119654] Chr20:761116 [GRCh38]
Chr20:741760 [GRCh37]
Chr20:20p13
likely benign
NM_033409.4(SLC52A3):c.568-17T>C single nucleotide variant Brown-Vialetto-van Laere syndrome 1 [RCV002154924] Chr20:764020 [GRCh38]
Chr20:744664 [GRCh37]
Chr20:20p13
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16187 AgrOrtholog
COSMIC SLC52A3 COSMIC
Ensembl Genes ENSG00000101276 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000217254 ENTREZGENE
  ENSP00000217254.7 UniProtKB/Swiss-Prot
  ENSP00000371370.3 UniProtKB/Swiss-Prot
  ENSP00000494009 ENTREZGENE
  ENSP00000494009.1 UniProtKB/Swiss-Prot
  ENSP00000494193 ENTREZGENE
  ENSP00000494193.1 UniProtKB/Swiss-Prot
  ENSP00000501807.1 UniProtKB/TrEMBL
  ENSP00000501902.1 UniProtKB/TrEMBL
  ENSP00000502741.1 UniProtKB/TrEMBL
  ENSP00000502783.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000217254 ENTREZGENE
  ENST00000217254.11 UniProtKB/Swiss-Prot
  ENST00000381944.5 UniProtKB/Swiss-Prot
  ENST00000473664.2 UniProtKB/TrEMBL
  ENST00000488495 ENTREZGENE
  ENST00000488495.3 UniProtKB/Swiss-Prot
  ENST00000645534 ENTREZGENE
  ENST00000645534.1 UniProtKB/Swiss-Prot
  ENST00000674666.1 UniProtKB/TrEMBL
  ENST00000675066.1 UniProtKB/TrEMBL
  ENST00000676154.1 UniProtKB/TrEMBL
GTEx ENSG00000101276 GTEx
HGNC ID HGNC:16187 ENTREZGENE
Human Proteome Map SLC52A3 Human Proteome Map
InterPro Riboflavin_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113278 UniProtKB/Swiss-Prot
NCBI Gene 113278 ENTREZGENE
OMIM 211500 OMIM
  211530 OMIM
  613350 OMIM
PANTHER PTHR12929 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1011 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25764 PharmGKB
UniProt A0A6Q8PFG7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFQ2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHL2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHL7_HUMAN UniProtKB/TrEMBL
  K0A6P4 ENTREZGENE
  Q9NQ40 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A2I6BQ49 UniProtKB/Swiss-Prot
  A8K6P1 UniProtKB/Swiss-Prot
  K0A6P4 UniProtKB/Swiss-Prot
  Q5W1A0 UniProtKB/Swiss-Prot
  Q5W1A1 UniProtKB/Swiss-Prot
  Q8NCL7 UniProtKB/Swiss-Prot
  Q96GD5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC52A3  solute carrier family 52 member 3  SLC52A3  solute carrier family 52 (riboflavin transporter), member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC52A3  solute carrier family 52 (riboflavin transporter), member 3  SLC52A3  solute carrier family 52, riboflavin transporter, member 3  Symbol and/or name change 5135510 APPROVED
2012-03-06 SLC52A3  solute carrier family 52, riboflavin transporter, member 3  C20orf54  chromosome 20 open reading frame 54  Symbol and/or name change 5135510 APPROVED
2011-09-01 C20orf54  chromosome 20 open reading frame 54  C20orf54  chromosome 20 open reading frame 54  Symbol and/or name change 5135510 APPROVED