EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) - Rat Genome Database

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Gene: EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) Homo sapiens
Analyze
Symbol: EARS2
Name: glutamyl-tRNA synthetase 2, mitochondrial
RGD ID: 1604541
HGNC Page HGNC:29419
Description: Enables glutamate-tRNA ligase activity and glutamate-tRNA(Gln) ligase activity. Involved in glutamyl-tRNA aminoacylation and tRNA aminoacylation for mitochondrial protein translation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 12.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXPD12; gluRS; glutamate tRNA ligase 2, mitochondrial; glutamate--tRNA ligase; glutamate--tRNA(Gln) ligase EARS2, mitochondrial; glutamyl-tRNA synthetase 2, mitochondrial (putative); KIAA1970; mitochondrial glutamyl-tRNA synthetase; MSE1; mtGlnRS; mtGluRS; nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial; probable glutamate--tRNA ligase, mitochondrial; probable glutamyl-tRNA synthetase, mitochondrial
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
GRCh381623,520,754 - 23,557,375 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,520,754 - 23,557,731 (-)EnsemblGRCh38hg38GRCh38
GRCh371623,532,075 - 23,568,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,440,835 - 23,476,197 (-)NCBINCBI36Build 36hg18NCBI36
Celera1622,311,508 - 22,346,870 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,624,001 - 21,659,478 (-)NCBIHuRef
CHM1_11624,544,893 - 24,580,247 (-)NCBICHM1_1
T2T-CHM13v2.01623,796,546 - 23,833,174 (-)NCBIT2T-CHM13v2.0
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
mitochondrial matrix  (IEA)
mitochondrion  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10493829   PMID:11853319   PMID:12477932   PMID:14702039   PMID:15779907   PMID:16344560   PMID:18029348   PMID:19805282   PMID:20877624   PMID:21873635   PMID:22277967   PMID:22492562  
PMID:23008233   PMID:24501781   PMID:25921289   PMID:26186194   PMID:26972000   PMID:27320910   PMID:28380382   PMID:28514442   PMID:29395067   PMID:31056398   PMID:31073040   PMID:31091453  
PMID:31617661   PMID:31753913   PMID:31932471   PMID:32344865   PMID:32628020   PMID:32877691   PMID:32994395   PMID:33001583   PMID:33545068   PMID:33567341   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34373451   PMID:35256949   PMID:35545034   PMID:35563538   PMID:35779338   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36538041   PMID:36543142   PMID:36597993  
PMID:37827155   PMID:38070861  


Genomics

Comparative Map Data
EARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381623,520,754 - 23,557,375 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1623,520,754 - 23,557,731 (-)EnsemblGRCh38hg38GRCh38
GRCh371623,532,075 - 23,568,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361623,440,835 - 23,476,197 (-)NCBINCBI36Build 36hg18NCBI36
Celera1622,311,508 - 22,346,870 (-)NCBICelera
Cytogenetic Map16p12.2NCBI
HuRef1621,624,001 - 21,659,478 (-)NCBIHuRef
CHM1_11624,544,893 - 24,580,247 (-)NCBICHM1_1
T2T-CHM13v2.01623,796,546 - 23,833,174 (-)NCBIT2T-CHM13v2.0
Ears2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397121,633,385 - 121,666,436 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7121,636,436 - 121,666,486 (-)EnsemblGRCm39 Ensembl
GRCm387122,034,162 - 122,067,094 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7122,037,213 - 122,067,263 (-)EnsemblGRCm38mm10GRCm38
MGSCv377129,182,335 - 129,210,577 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367121,829,969 - 121,858,211 (-)NCBIMGSCv36mm8
Celera7121,928,821 - 121,956,955 (-)NCBICelera
Cytogenetic Map7F2NCBI
cM Map765.3NCBI
Ears2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81186,025,740 - 186,057,165 (-)NCBIGRCr8
mRatBN7.21176,597,986 - 176,625,848 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1176,597,986 - 176,625,836 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1184,925,885 - 184,953,749 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01192,111,834 - 192,139,699 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,795,689 - 184,823,517 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01191,997,512 - 192,025,350 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1191,997,512 - 192,025,350 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01198,699,309 - 198,716,446 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01199,083,532 - 199,087,792 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,861,635 - 180,889,473 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11181,001,656 - 181,029,365 (-)NCBI
Celera1174,307,704 - 174,335,598 (-)NCBICelera
Cytogenetic Map1q36NCBI
Ears2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554932,090,940 - 2,113,843 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554932,083,272 - 2,113,403 (-)NCBIChiLan1.0ChiLan1.0
EARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21824,923,982 - 24,969,321 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11629,453,430 - 29,488,681 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01614,552,664 - 14,588,022 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11623,774,565 - 23,809,868 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1623,774,123 - 23,809,873 (-)Ensemblpanpan1.1panPan2
EARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1622,276,189 - 22,299,865 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl622,276,230 - 22,297,428 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha623,842,973 - 23,870,454 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0622,418,593 - 22,440,442 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl622,418,631 - 22,441,009 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1622,223,450 - 22,245,635 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0622,126,093 - 22,147,774 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0622,521,275 - 22,543,545 (+)NCBIUU_Cfam_GSD_1.0
Ears2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344120,091,497 - 120,111,506 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365018,188,071 - 8,209,386 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365018,190,466 - 8,209,320 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl322,657,766 - 22,684,241 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1322,654,351 - 22,684,246 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21085,186 - 115,545 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1521,248,866 - 21,282,725 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl521,251,224 - 21,282,966 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660688,516,756 - 8,551,182 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ears2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247828,700,195 - 8,719,911 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247828,698,743 - 8,719,064 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EARS2
284 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001083614.2(EARS2):c.293C>T (p.Ala98Val) single nucleotide variant not provided [RCV000519634] Chr16:23552151 [GRCh38]
Chr16:23563472 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) single nucleotide variant Global developmental delay [RCV000626746]|Inborn genetic diseases [RCV000622765]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033009]|See cases [RCV003156066]|not provided [RCV000255688] Chr16:23544677 [GRCh38]
Chr16:23555998 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001083614.2(EARS2):c.502A>G (p.Arg168Gly) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033010] Chr16:23535344 [GRCh38]
Chr16:23546665 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) single nucleotide variant Inborn genetic diseases [RCV000624375]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033011]|not provided [RCV000485250] Chr16:23544671 [GRCh38]
Chr16:23555992 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033012]|not provided [RCV001852665]|not specified [RCV002271382] Chr16:23535236 [GRCh38]
Chr16:23546557 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033013] Chr16:23552158 [GRCh38]
Chr16:23563479 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033014]|not provided [RCV001731474] Chr16:23535346 [GRCh38]
Chr16:23546667 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_001083614.2(EARS2):c.193A>G (p.Lys65Glu) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000033015] Chr16:23552251 [GRCh38]
Chr16:23563572 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 copy number gain See cases [RCV000051829] Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 copy number gain See cases [RCV000051842] Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 copy number loss See cases [RCV000052519] Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1		 pathogenic
GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 copy number gain See cases [RCV000053859] Chr16:22755932..23546240 [GRCh38]
Chr16:22767253..23557561 [GRCh37]
Chr16:22674754..23465062 [NCBI36]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.606C>G (p.Val202=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000297010]|not provided [RCV000676417]|not specified [RCV000124858] Chr16:23535240 [GRCh38]
Chr16:23546561 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121527]|not provided [RCV000676416]|not specified [RCV000124859] Chr16:23532740 [GRCh38]
Chr16:23544061 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1068-5C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000289917]|not provided [RCV000676415]|not specified [RCV000124860] Chr16:23529902 [GRCh38]
Chr16:23541223 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000273802]|not provided [RCV000676414]|not specified [RCV000124861] Chr16:23525363 [GRCh38]
Chr16:23536684 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001117995]|not provided [RCV000514249]|not specified [RCV000124862] Chr16:23525320 [GRCh38]
Chr16:23536641 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.1:c.+12T>G single nucleotide variant not provided [RCV000124863] Chr16:16p12.2 benign
NM_001083614.2(EARS2):c.15G>C (p.Leu5=) single nucleotide variant not provided [RCV000124864] Chr16:23557329 [GRCh38]
Chr16:23568650 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) single nucleotide variant EARS2-related condition [RCV003975103]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119626]|not provided [RCV000442922]|not specified [RCV000124865] Chr16:23557328 [GRCh38]
Chr16:23568649 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.264G>A (p.Ala88=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000277874]|not provided [RCV000676420]|not specified [RCV000124866] Chr16:23552180 [GRCh38]
Chr16:23563501 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001331591] Chr16:23529503 [GRCh38]
Chr16:23540824 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1400G>C (p.Gly467Ala) single nucleotide variant not provided [RCV001963894] Chr16:23525332 [GRCh38]
Chr16:23536653 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 copy number gain See cases [RCV000135594] Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 copy number gain See cases [RCV000140235] Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2		 likely pathogenic
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000763375]|See cases [RCV003156088]|not provided [RCV000254773]|not specified [RCV003235167] Chr16:23524396 [GRCh38]
Chr16:23535717 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic|uncertain significance
NM_001083614.2(EARS2):c.*15G>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000304361] Chr16:23524356 [GRCh38]
Chr16:23535677 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) single nucleotide variant EARS2-related condition [RCV003957523]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000367728]|not provided [RCV000726575]|not specified [RCV000284636] Chr16:23552164 [GRCh38]
Chr16:23563485 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Breast ductal adenocarcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_001083614.2(EARS2):c.809A>G (p.His270Arg) single nucleotide variant not provided [RCV000224313] Chr16:23535037 [GRCh38]
Chr16:23546358 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*12T>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000354559] Chr16:23524359 [GRCh38]
Chr16:23535680 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.687C>G (p.His229Gln) single nucleotide variant Inborn genetic diseases [RCV000623616] Chr16:23535159 [GRCh38]
Chr16:23546480 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2(chr16:23533522-23563732)x3 copy number gain See cases [RCV000240368] Chr16:23533522..23563732 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*2193A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000282524] Chr16:23522178 [GRCh38]
Chr16:23533499 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1488+15C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000299737]|not provided [RCV002521002] Chr16:23525229 [GRCh38]
Chr16:23536550 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.*1408A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000265012] Chr16:23522963 [GRCh38]
Chr16:23534284 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*383GA[1] microsatellite Combined oxidative phosphorylation deficiency [RCV000303131] Chr16:23523985..23523986 [GRCh38]
Chr16:23535306..23535307 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000286269]|not provided [RCV002521003] Chr16:23534897 [GRCh38]
Chr16:23546218 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_001083614.2(EARS2):c.*535del deletion Combined oxidative phosphorylation deficiency [RCV000287636] Chr16:23523836 [GRCh38]
Chr16:23535157 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1317G>A (p.Ser439=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000270158]|not provided [RCV000912485]|not specified [RCV000444867] Chr16:23529537 [GRCh38]
Chr16:23540858 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001083614.2(EARS2):c.1489-14C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000259813]|not provided [RCV002056483] Chr16:23524468 [GRCh38]
Chr16:23535789 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.*715G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000295919] Chr16:23523656 [GRCh38]
Chr16:23534977 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.*1233C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000261392] Chr16:23523138 [GRCh38]
Chr16:23534459 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.*1048del deletion Combined oxidative phosphorylation deficiency [RCV000280561] Chr16:23523323 [GRCh38]
Chr16:23534644 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*2309G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000322764] Chr16:23522062 [GRCh38]
Chr16:23533383 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000368435] Chr16:23525323 [GRCh38]
Chr16:23536644 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.558G>A (p.Ala186=) single nucleotide variant Combined oxidative phosphorylation deficiency [RCV000394255]|not provided [RCV002061195] Chr16:23535288 [GRCh38]
Chr16:23546609 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000394258]|not provided [RCV000483207] Chr16:23535179 [GRCh38]
Chr16:23546500 [GRCh37]
Chr16:16p12.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001083614.2(EARS2):c.*1388C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000324772] Chr16:23522983 [GRCh38]
Chr16:23534304 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.*458C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000347467] Chr16:23523913 [GRCh38]
Chr16:23535234 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.*400A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000396290] Chr16:23523971 [GRCh38]
Chr16:23535292 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.*1808G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000397184] Chr16:23522563 [GRCh38]
Chr16:23533884 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*2105C>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000397196] Chr16:23522266 [GRCh38]
Chr16:23533587 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.*2294T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000372737] Chr16:23522077 [GRCh38]
Chr16:23533398 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.*1498A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000398896] Chr16:23522873 [GRCh38]
Chr16:23534194 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.485G>A (p.Arg162Gln) single nucleotide variant not provided [RCV000384613] Chr16:23544514 [GRCh38]
Chr16:23555835 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1099A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000375051] Chr16:23523272 [GRCh38]
Chr16:23534593 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.959-15C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000376266] Chr16:23532780 [GRCh38]
Chr16:23544101 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1443C>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000309655] Chr16:23522928 [GRCh38]
Chr16:23534249 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.*917C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000330992] Chr16:23523454 [GRCh38]
Chr16:23534775 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1033C>G (p.Leu345Val) single nucleotide variant Inborn genetic diseases [RCV003258732]|not provided [RCV000360099] Chr16:23532691 [GRCh38]
Chr16:23544012 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.351A>G (p.Gln117=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000312960]|not provided [RCV002521004] Chr16:23544648 [GRCh38]
Chr16:23555969 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*380_*384del deletion Combined oxidative phosphorylation deficiency [RCV000357890] Chr16:23523987..23523991 [GRCh38]
Chr16:23535308..23535312 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) single nucleotide variant EARS2-related condition [RCV003957646]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000314264]|not provided [RCV000906961] Chr16:23552181 [GRCh38]
Chr16:23563502 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000384507] Chr16:23529894 [GRCh38]
Chr16:23541215 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*914T>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000385526] Chr16:23523457 [GRCh38]
Chr16:23534778 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1138G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000316569] Chr16:23523233 [GRCh38]
Chr16:23534554 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000337975]|not provided [RCV000896854] Chr16:23535266 [GRCh38]
Chr16:23546587 [GRCh37]
Chr16:16p12.2		 benign|uncertain significance
NM_001083614.2(EARS2):c.*2156T>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000337596] Chr16:23522215 [GRCh38]
Chr16:23533536 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.*1327A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000360817] Chr16:23523044 [GRCh38]
Chr16:23534365 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.*1594C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000363221] Chr16:23522777 [GRCh38]
Chr16:23534098 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000387987]|not provided [RCV003151767] Chr16:23529502 [GRCh38]
Chr16:23540823 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000341525]|not provided [RCV001550307] Chr16:23534972 [GRCh38]
Chr16:23546293 [GRCh37]
Chr16:16p12.2		 benign|likely benign|uncertain significance
NM_001083614.1(EARS2):c.-19G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000364300] Chr16:23557362 [GRCh38]
Chr16:23568683 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.949G>A (p.Gly317Ser) single nucleotide variant not provided [RCV000489173] Chr16:23534897 [GRCh38]
Chr16:23546218 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) single nucleotide variant Inborn genetic diseases [RCV002525993]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121525]|not provided [RCV000487917] Chr16:23532679 [GRCh38]
Chr16:23544000 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 copy number loss Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] Chr16:21475039..29043958 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.*155A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000401164] Chr16:23524216 [GRCh38]
Chr16:23535537 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1902dup duplication Combined oxidative phosphorylation deficiency [RCV000293119] Chr16:23522468..23522469 [GRCh38]
Chr16:23533789..23533790 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*713T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000350784] Chr16:23523658 [GRCh38]
Chr16:23534979 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*535dup duplication Combined oxidative phosphorylation deficiency [RCV000405238] Chr16:23523835..23523836 [GRCh38]
Chr16:23535156..23535157 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1720G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000308533] Chr16:23522651 [GRCh38]
Chr16:23533972 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1809T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000352786] Chr16:23522562 [GRCh38]
Chr16:23533883 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1435C>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000359694] Chr16:23522936 [GRCh38]
Chr16:23534257 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.488A>G (p.Tyr163Cys) single nucleotide variant Inborn genetic diseases [RCV000622991]|not provided [RCV001860436] Chr16:23535358 [GRCh38]
Chr16:23546679 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000578413]|not provided [RCV000522647] Chr16:23544679 [GRCh38]
Chr16:23556000 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.2(chr16:23567993-23666408)x1 copy number loss See cases [RCV000447156] Chr16:23567993..23666408 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001118085]|not provided [RCV000676418]|not specified [RCV000431460] Chr16:23544597 [GRCh38]
Chr16:23555918 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.813C>T (p.Phe271=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116641]|not provided [RCV000898757] Chr16:23535033 [GRCh38]
Chr16:23546354 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.1(EARS2):c.-14C>A single nucleotide variant not specified [RCV000419205] Chr16:23557357 [GRCh38]
Chr16:23568678 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.63C>T (p.Pro21=) single nucleotide variant EARS2-related condition [RCV003970153]|not provided [RCV001703684] Chr16:23557281 [GRCh38]
Chr16:23568602 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1209C>T (p.Leu403=) single nucleotide variant not provided [RCV001704364] Chr16:23529756 [GRCh38]
Chr16:23541077 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.700G>C (p.Val234Leu) single nucleotide variant not provided [RCV000441862] Chr16:23535146 [GRCh38]
Chr16:23546467 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.212del (p.Phe71fs) deletion Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003447531]|not provided [RCV000487247] Chr16:23552232 [GRCh38]
Chr16:23563553 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000509178]|not provided [RCV001591162] Chr16:23544665 [GRCh38]
Chr16:23555986 [GRCh37]
Chr16:16p12.2		 likely pathogenic|not provided
NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003152712]|not provided [RCV000493851] Chr16:23529884 [GRCh38]
Chr16:23541205 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 copy number gain See cases [RCV000511587] Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001083614.2(EARS2):c.875T>C (p.Val292Ala) single nucleotide variant Inborn genetic diseases [RCV003262127] Chr16:23534971 [GRCh38]
Chr16:23546292 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV002282261]|not provided [RCV000879878]|not specified [RCV000595215] Chr16:23535176 [GRCh38]
Chr16:23546497 [GRCh37]
Chr16:16p12.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001083614.2(EARS2):c.570C>T (p.Arg190=) single nucleotide variant not specified [RCV000616538] Chr16:23535276 [GRCh38]
Chr16:23546597 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.958+4C>T single nucleotide variant EARS2-related condition [RCV003980166]|not provided [RCV002529762]|not specified [RCV000609023] Chr16:23534884 [GRCh38]
Chr16:23546205 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.45G>A (p.Ser15=) single nucleotide variant not specified [RCV000612109] Chr16:23557299 [GRCh38]
Chr16:23568620 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1194C>G (p.Tyr398Ter) single nucleotide variant not provided [RCV000578763] Chr16:23529771 [GRCh38]
Chr16:23541092 [GRCh37]
Chr16:16p12.2		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000625893] Chr16:23535056 [GRCh38]
Chr16:23546377 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1481G>A (p.Gly494Glu) single nucleotide variant not provided [RCV000512815] Chr16:23525251 [GRCh38]
Chr16:23536572 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 copy number gain See cases [RCV000512478] Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) indel not provided [RCV000676419] Chr16:23552180..23552181 [GRCh38]
Chr16:23563501..23563502 [GRCh37]
Chr16:16p12.2		 likely pathogenic|benign|uncertain significance
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) single nucleotide variant Inborn genetic diseases [RCV002531380]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119623]|not provided [RCV000676421]|not specified [RCV002249401] Chr16:23552235 [GRCh38]
Chr16:23563556 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 copy number loss not provided [RCV000683786] Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.1488+310G>A single nucleotide variant not provided [RCV001567812] Chr16:23524934 [GRCh38]
Chr16:23536255 [GRCh37]
Chr16:16p12.2		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p12.2(chr16:23347304-23534098)x3 copy number gain not provided [RCV000739106] Chr16:23347304..23534098 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.295+281G>T single nucleotide variant not provided [RCV001583312] Chr16:23551868 [GRCh38]
Chr16:23563189 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.911C>A (p.Pro304His) single nucleotide variant not provided [RCV001586525] Chr16:23534935 [GRCh38]
Chr16:23546256 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.23557459T>G single nucleotide variant not provided [RCV001570068] Chr16:23557459 [GRCh38]
Chr16:23568780 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1277_1279dup (p.Thr426_Arg427insPro) duplication Fetal akinesia deformation sequence 1 [RCV000855495]|not provided [RCV002536201] Chr16:23529574..23529575 [GRCh38]
Chr16:23540895..23540896 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_001083614.2(EARS2):c.878T>C (p.Phe293Ser) single nucleotide variant Inborn genetic diseases [RCV003264063]|not provided [RCV001570296] Chr16:23534968 [GRCh38]
Chr16:23546289 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116640] Chr16:23534995 [GRCh38]
Chr16:23546316 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000989546] Chr16:23535162 [GRCh38]
Chr16:23546483 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.1338C>T (p.Ala446=) single nucleotide variant not provided [RCV000899048] Chr16:23529516 [GRCh38]
Chr16:23540837 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.497G>A (p.Arg166Gln) single nucleotide variant Inborn genetic diseases [RCV003338897]|not provided [RCV000996239] Chr16:23535349 [GRCh38]
Chr16:23546670 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1215G>A (p.Leu405=) single nucleotide variant not provided [RCV000939605] Chr16:23529750 [GRCh38]
Chr16:23541071 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.705C>T (p.Asp235=) single nucleotide variant not provided [RCV000918138] Chr16:23535141 [GRCh38]
Chr16:23546462 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.642G>A (p.Glu214=) single nucleotide variant not provided [RCV000899049] Chr16:23535204 [GRCh38]
Chr16:23546525 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV000909176] Chr16:23557245 [GRCh38]
Chr16:23568566 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1533G>A (p.Lys511=) single nucleotide variant not provided [RCV000894262] Chr16:23524410 [GRCh38]
Chr16:23535731 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.485+109G>A single nucleotide variant not provided [RCV000835517] Chr16:23544405 [GRCh38]
Chr16:23555726 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr) single nucleotide variant Fetal akinesia deformation sequence 1 [RCV000855494]|not provided [RCV001310323] Chr16:23535032 [GRCh38]
Chr16:23546353 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.480G>A (p.Thr160=) single nucleotide variant not provided [RCV000915004] Chr16:23544519 [GRCh38]
Chr16:23555840 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.912C>T (p.Pro304=) single nucleotide variant not provided [RCV000915415] Chr16:23534934 [GRCh38]
Chr16:23546255 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.959-209C>T single nucleotide variant not provided [RCV000840358] Chr16:23532974 [GRCh38]
Chr16:23544295 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1488+199A>G single nucleotide variant not provided [RCV000840359] Chr16:23525045 [GRCh38]
Chr16:23536366 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1352+25G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001664452]|not provided [RCV000830744] Chr16:23529477 [GRCh38]
Chr16:23540798 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.*1647C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001117886] Chr16:23522724 [GRCh38]
Chr16:23534045 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001118084]|not provided [RCV001856553] Chr16:23544596 [GRCh38]
Chr16:23555917 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1362T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119440] Chr16:23523009 [GRCh38]
Chr16:23534330 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 copy number gain not provided [RCV001006786] Chr16:21576802..29351826 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.*555G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116540] Chr16:23523816 [GRCh38]
Chr16:23535137 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1488+34G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001664455]|not provided [RCV000830844] Chr16:23525210 [GRCh38]
Chr16:23536531 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.296-4C>G single nucleotide variant not provided [RCV000841298] Chr16:23544707 [GRCh38]
Chr16:23556028 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.*637A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116539] Chr16:23523734 [GRCh38]
Chr16:23535055 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.873C>T (p.Asp291=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116639]|not provided [RCV002558154] Chr16:23534973 [GRCh38]
Chr16:23546294 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV000989545]|not provided [RCV002549729] Chr16:23529611 [GRCh38]
Chr16:23540932 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1283del (p.Pro428fs) deletion Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001249580] Chr16:23529571 [GRCh38]
Chr16:23540892 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.319C>T (p.Arg107Cys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001249579] Chr16:23544680 [GRCh38]
Chr16:23556001 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001118086] Chr16:23552181 [GRCh38]
Chr16:23563502 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001090120]|not provided [RCV002554807] Chr16:23529620 [GRCh38]
Chr16:23540941 [GRCh37]
Chr16:16p12.2		 likely pathogenic|uncertain significance
NM_001083614.2(EARS2):c.*180A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116541] Chr16:23524191 [GRCh38]
Chr16:23535512 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119624]|not provided [RCV001568490] Chr16:23552247 [GRCh38]
Chr16:23563568 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.102G>T (p.Gly34=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119625] Chr16:23557242 [GRCh38]
Chr16:23568563 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.484C>T (p.Arg162Trp) single nucleotide variant not provided [RCV003106780] Chr16:23544515 [GRCh38]
Chr16:23555836 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.10:g.23557571A>G single nucleotide variant not provided [RCV001715783] Chr16:23557571 [GRCh38]
Chr16:23568892 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.204G>A (p.Gln68=) single nucleotide variant not provided [RCV001688453] Chr16:23552240 [GRCh38]
Chr16:23563561 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1068-55G>A single nucleotide variant not provided [RCV001596565] Chr16:23529952 [GRCh38]
Chr16:23541273 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1352+262del deletion not provided [RCV001594357] Chr16:23529240 [GRCh38]
Chr16:23540561 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.139+327G>C single nucleotide variant not provided [RCV001653136] Chr16:23556878 [GRCh38]
Chr16:23568199 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1206C>T (p.Ile402=) single nucleotide variant not provided [RCV000933548] Chr16:23529759 [GRCh38]
Chr16:23541080 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.246C>T (p.Arg82=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119622]|not provided [RCV000908656] Chr16:23552198 [GRCh38]
Chr16:23563519 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.861G>A (p.Lys287=) single nucleotide variant EARS2-related condition [RCV003958311]|not provided [RCV000910405] Chr16:23534985 [GRCh38]
Chr16:23546306 [GRCh37]
Chr16:16p12.2		 benign|likely benign
NM_001083614.2(EARS2):c.164G>A (p.Arg55His) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001249430]|not provided [RCV001879753] Chr16:23552280 [GRCh38]
Chr16:23563601 [GRCh37]
Chr16:16p12.2		 uncertain significance|not provided
NM_001083614.2(EARS2):c.*1902A>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116433] Chr16:23522469 [GRCh38]
Chr16:23533790 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1068-4G>A single nucleotide variant not provided [RCV000934446] Chr16:23529901 [GRCh38]
Chr16:23541222 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.699G>T (p.Val233=) single nucleotide variant not provided [RCV000934682] Chr16:23535147 [GRCh38]
Chr16:23546468 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.633C>T (p.Ala211=) single nucleotide variant EARS2-related condition [RCV003895689]|not provided [RCV000935890] Chr16:23535213 [GRCh38]
Chr16:23546534 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.100G>A (p.Gly34Arg) single nucleotide variant Inborn genetic diseases [RCV003298924]|not provided [RCV001552893] Chr16:23557244 [GRCh38]
Chr16:23568565 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV002466930] Chr16:23552208 [GRCh38]
Chr16:23563529 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003146226]|not provided [RCV001653134] Chr16:23535277 [GRCh38]
Chr16:23546598 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001083614.2(EARS2):c.295+286A>G single nucleotide variant not provided [RCV001658564] Chr16:23551863 [GRCh38]
Chr16:23563184 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.*1082T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119441] Chr16:23523289 [GRCh38]
Chr16:23534610 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*966G>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121431] Chr16:23523405 [GRCh38]
Chr16:23534726 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121526] Chr16:23532730 [GRCh38]
Chr16:23544051 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119524]|not provided [RCV001541142] Chr16:23529772 [GRCh38]
Chr16:23541093 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1027G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121430] Chr16:23523344 [GRCh38]
Chr16:23534665 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1489-210dup duplication not provided [RCV001708080] Chr16:23524646..23524647 [GRCh38]
Chr16:23535967..23535968 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.296-41C>T single nucleotide variant not provided [RCV001566919] Chr16:23544744 [GRCh38]
Chr16:23556065 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1353-169C>T single nucleotide variant not provided [RCV001583964] Chr16:23525548 [GRCh38]
Chr16:23536869 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.*91C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116542] Chr16:23524280 [GRCh38]
Chr16:23535601 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001117994] Chr16:23524452 [GRCh38]
Chr16:23535773 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_019116.1(UBFD1):c.307G>C (p.Ala103Pro) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001119627] Chr16:23557377 [GRCh38]
Chr16:23568698 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.*755C>T single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121434] Chr16:23523616 [GRCh38]
Chr16:23534937 [GRCh37]
Chr16:16p12.2		 benign
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 copy number gain not provided [RCV001249228] Chr16:21312200..29646379 [GRCh37]
Chr16:16p12.2-11.2		 not provided
NM_001083614.2(EARS2):c.*936T>C single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121432] Chr16:23523435 [GRCh38]
Chr16:23534756 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*824G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001121433] Chr16:23523547 [GRCh38]
Chr16:23534868 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.*1904A>G single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001116432] Chr16:23522467 [GRCh38]
Chr16:23533788 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn) single nucleotide variant Inborn genetic diseases [RCV002546494]|Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001331593] Chr16:23534933 [GRCh38]
Chr16:23546254 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001331592] Chr16:23557301 [GRCh38]
Chr16:23568622 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_001083614.2(EARS2):c.1489-47T>C single nucleotide variant not provided [RCV001568066] Chr16:23524501 [GRCh38]
Chr16:23535822 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV001336166] Chr16:23535101 [GRCh38]
Chr16:23546422 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1294C>T (p.Arg432Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 12 [RCV001335649] Chr16:23529560 [GRCh38]
Chr16:23540881 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.21530207_29332245del deletion not provided [RCV001030428] Chr16:21530207..29332245 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.291G>A (p.Trp97Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 12 [RCV001336165] Chr16:23552153 [GRCh38]
Chr16:23563474 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.1489-295G>C single nucleotide variant not provided [RCV001545616] Chr16:23524749 [GRCh38]
Chr16:23536070 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.140-171G>A single nucleotide variant not provided [RCV001530904] Chr16:23552475 [GRCh38]
Chr16:23563796 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.958+231T>C single nucleotide variant not provided [RCV001674216] Chr16:23534657 [GRCh38]
Chr16:23545978 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.1(EARS2):c.-9C>T single nucleotide variant not provided [RCV001527764] Chr16:23557352 [GRCh38]
Chr16:23568673 [GRCh37]
Chr16:16p12.2		 benign
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) single nucleotide variant not provided [RCV001764824] Chr16:23525338 [GRCh38]
Chr16:23536659 [GRCh37]
Chr16:16p12.2		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 copy number loss not provided [RCV001795549] Chr16:21594997..29625302 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.1231T>G (p.Cys411Gly) single nucleotide variant not provided [RCV001964373] Chr16:23529623 [GRCh38]
Chr16:23540944 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1369_1370delinsGA (p.Ser457Asp) indel not provided [RCV001929061] Chr16:23525362..23525363 [GRCh38]
Chr16:23536683..23536684 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1235G>A (p.Arg412His) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003487010]|not provided [RCV001837659] Chr16:23529619 [GRCh38]
Chr16:23540940 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs) deletion Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003453845]|not provided [RCV002007569] Chr16:23544581..23544582 [GRCh38]
Chr16:23555902..23555903 [GRCh37]
Chr16:16p12.2		 pathogenic|likely pathogenic
NM_001083614.2(EARS2):c.139+4A>G single nucleotide variant not provided [RCV001986675] Chr16:23557201 [GRCh38]
Chr16:23568522 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1546C>G (p.Arg516Gly) single nucleotide variant not provided [RCV002044480] Chr16:23524397 [GRCh38]
Chr16:23535718 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1046A>T (p.Glu349Val) single nucleotide variant not provided [RCV001965210] Chr16:23532678 [GRCh38]
Chr16:23543999 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.596A>G (p.Gln199Arg) single nucleotide variant not provided [RCV001967156] Chr16:23535250 [GRCh38]
Chr16:23546571 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1240C>T (p.Gln414Ter) single nucleotide variant not provided [RCV001941767] Chr16:23529614 [GRCh38]
Chr16:23540935 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.1068-7T>G single nucleotide variant not provided [RCV001888440] Chr16:23529904 [GRCh38]
Chr16:23541225 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003152775]|not provided [RCV001897744] Chr16:23552200 [GRCh38]
Chr16:23563521 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.466C>T (p.Arg156Trp) single nucleotide variant not provided [RCV001959400] Chr16:23544533 [GRCh38]
Chr16:23555854 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1351G>T (p.Gly451Trp) single nucleotide variant not provided [RCV001960408] Chr16:23529503 [GRCh38]
Chr16:23540824 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.455A>T (p.Lys152Met) single nucleotide variant not provided [RCV001938097] Chr16:23544544 [GRCh38]
Chr16:23555865 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.857C>G (p.Ser286Cys) single nucleotide variant not provided [RCV001887601] Chr16:23534989 [GRCh38]
Chr16:23546310 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.515A>G (p.Gln172Arg) single nucleotide variant not provided [RCV002046744] Chr16:23535331 [GRCh38]
Chr16:23546652 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.820C>G (p.Leu274Val) single nucleotide variant not provided [RCV001989918] Chr16:23535026 [GRCh38]
Chr16:23546347 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1148C>A (p.Ala383Asp) single nucleotide variant not provided [RCV001957760] Chr16:23529817 [GRCh38]
Chr16:23541138 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1024C>T (p.His342Tyr) single nucleotide variant not provided [RCV001919873] Chr16:23532700 [GRCh38]
Chr16:23544021 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1082G>A (p.Arg361Gln) single nucleotide variant not provided [RCV001953229] Chr16:23529883 [GRCh38]
Chr16:23541204 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1098G>C (p.Glu366Asp) single nucleotide variant not provided [RCV001952063]|not specified [RCV002246598] Chr16:23529867 [GRCh38]
Chr16:23541188 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.106G>A (p.Ala36Thr) single nucleotide variant not provided [RCV001991742] Chr16:23557238 [GRCh38]
Chr16:23568559 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.814G>T (p.Ala272Ser) single nucleotide variant not provided [RCV002026353] Chr16:23535032 [GRCh38]
Chr16:23546353 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23464127)_(23635435_?)del deletion not provided [RCV001951393] Chr16:23464127..23635435 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.367C>G (p.Leu123Val) single nucleotide variant not provided [RCV001939954] Chr16:23544632 [GRCh38]
Chr16:23555953 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1195G>A (p.Val399Met) single nucleotide variant not provided [RCV002047966] Chr16:23529770 [GRCh38]
Chr16:23541091 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.917C>G (p.Ser306Cys) single nucleotide variant not provided [RCV001954236] Chr16:23534929 [GRCh38]
Chr16:23546250 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.48G>C (p.Ala16=) single nucleotide variant not provided [RCV002188859] Chr16:23557296 [GRCh38]
Chr16:23568617 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1122G>A (p.Gly374=) single nucleotide variant not provided [RCV002088899] Chr16:23529843 [GRCh38]
Chr16:23541164 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.729C>T (p.His243=) single nucleotide variant not provided [RCV002188723] Chr16:23535117 [GRCh38]
Chr16:23546438 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.139+19A>G single nucleotide variant not provided [RCV002093900] Chr16:23557186 [GRCh38]
Chr16:23568507 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.390G>A (p.Ala130=) single nucleotide variant not provided [RCV002216271] Chr16:23544609 [GRCh38]
Chr16:23555930 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala) single nucleotide variant not provided [RCV002185781] Chr16:23529562 [GRCh38]
Chr16:23540883 [GRCh37]
Chr16:16p12.2		 likely benign|conflicting interpretations of pathogenicity
NM_001083614.2(EARS2):c.1352+15G>T single nucleotide variant not provided [RCV002173562] Chr16:23529487 [GRCh38]
Chr16:23540808 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1352+11G>T single nucleotide variant not provided [RCV002136589] Chr16:23529491 [GRCh38]
Chr16:23540812 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.150C>T (p.His50=) single nucleotide variant not provided [RCV002178872] Chr16:23552294 [GRCh38]
Chr16:23563615 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.384A>G (p.Thr128=) single nucleotide variant not provided [RCV002163573] Chr16:23544615 [GRCh38]
Chr16:23555936 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.479C>T (p.Thr160Met) single nucleotide variant not provided [RCV003115252] Chr16:23544520 [GRCh38]
Chr16:23555841 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23193865)_(23652612_?)del deletion COG7 congenital disorder of glycosylation [RCV003113761] Chr16:23193865..23652612 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23555815)_(23556044_?)del deletion not provided [RCV003122501] Chr16:23555815..23556044 [GRCh37]
Chr16:16p12.2		 pathogenic
NC_000016.9:g.(?_23543958)_(23619353_?)del deletion not provided [RCV003122502] Chr16:23543958..23619353 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.1316C>T (p.Ser439Leu) single nucleotide variant not provided [RCV003121634] Chr16:23529538 [GRCh38]
Chr16:23540859 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.119G>A (p.Arg40Gln) single nucleotide variant not provided [RCV003110794] Chr16:23557225 [GRCh38]
Chr16:23568546 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1214T>C (p.Leu405Pro) single nucleotide variant not provided [RCV003152005] Chr16:23529751 [GRCh38]
Chr16:23541072 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.730G>A (p.Val244Met) single nucleotide variant not provided [RCV002267422] Chr16:23535116 [GRCh38]
Chr16:23546437 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV002283349] Chr16:23544623 [GRCh38]
Chr16:23555944 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.437G>A (p.Arg146Gln) single nucleotide variant Inborn genetic diseases [RCV003259991] Chr16:23544562 [GRCh38]
Chr16:23555883 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1488+61del deletion Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV002472113] Chr16:23525183 [GRCh38]
Chr16:23536504 [GRCh37]
Chr16:16p12.2		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 copy number gain not provided [RCV002474541] Chr16:21576803..30177240 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV002471362] Chr16:23544703 [GRCh38]
Chr16:23556024 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.202C>T (p.Gln68Ter) single nucleotide variant not provided [RCV003154132] Chr16:23552242 [GRCh38]
Chr16:23563563 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.299T>C (p.Ile100Thr) single nucleotide variant not provided [RCV002474200] Chr16:23544700 [GRCh38]
Chr16:23556021 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1114C>G (p.Leu372Val) single nucleotide variant Inborn genetic diseases [RCV002836974] Chr16:23529851 [GRCh38]
Chr16:23541172 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1553A>G (p.Gln518Arg) single nucleotide variant not provided [RCV002614461] Chr16:23524390 [GRCh38]
Chr16:23535711 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1434C>G (p.Gly478=) single nucleotide variant not provided [RCV002750205] Chr16:23525298 [GRCh38]
Chr16:23536619 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.679A>G (p.Thr227Ala) single nucleotide variant not provided [RCV002462385] Chr16:23535167 [GRCh38]
Chr16:23546488 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1287A>T (p.Ala429=) single nucleotide variant not provided [RCV002615296] Chr16:23529567 [GRCh38]
Chr16:23540888 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.959-17G>A single nucleotide variant not provided [RCV002861512] Chr16:23532782 [GRCh38]
Chr16:23544103 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.783C>T (p.Tyr261=) single nucleotide variant not provided [RCV003017636] Chr16:23535063 [GRCh38]
Chr16:23546384 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.467G>A (p.Arg156Gln) single nucleotide variant Inborn genetic diseases [RCV002997568] Chr16:23544532 [GRCh38]
Chr16:23555853 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1519G>C (p.Ala507Pro) single nucleotide variant not provided [RCV002842624] Chr16:23524424 [GRCh38]
Chr16:23535745 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.36G>C (p.Glu12Asp) single nucleotide variant Inborn genetic diseases [RCV002729358] Chr16:23557308 [GRCh38]
Chr16:23568629 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV002726366] Chr16:23557217 [GRCh38]
Chr16:23568538 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1094A>G (p.Asn365Ser) single nucleotide variant Inborn genetic diseases [RCV002945632] Chr16:23529871 [GRCh38]
Chr16:23541192 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.141C>T (p.Gly47=) single nucleotide variant not provided [RCV002756399] Chr16:23552303 [GRCh38]
Chr16:23563624 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1015G>A (p.Val339Ile) single nucleotide variant not provided [RCV002736104] Chr16:23532709 [GRCh38]
Chr16:23544030 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.11T>C (p.Leu4Pro) single nucleotide variant not provided [RCV002824567] Chr16:23557333 [GRCh38]
Chr16:23568654 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.874G>T (p.Val292Phe) single nucleotide variant not provided [RCV002696242] Chr16:23534972 [GRCh38]
Chr16:23546293 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.920T>C (p.Leu307Ser) single nucleotide variant not provided [RCV002999685] Chr16:23534926 [GRCh38]
Chr16:23546247 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.389C>T (p.Ala130Val) single nucleotide variant not provided [RCV002735019] Chr16:23544610 [GRCh38]
Chr16:23555931 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.485+7A>T single nucleotide variant not provided [RCV002948850] Chr16:23544507 [GRCh38]
Chr16:23555828 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.863G>C (p.Arg288Thr) single nucleotide variant not provided [RCV002639088] Chr16:23534983 [GRCh38]
Chr16:23546304 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1570T>G (p.Ter524Glu) single nucleotide variant not provided [RCV002695436] Chr16:23524373 [GRCh38]
Chr16:23535694 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV002619961] Chr16:23535256 [GRCh38]
Chr16:23546577 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.247G>A (p.Val83Ile) single nucleotide variant Inborn genetic diseases [RCV002622170]|not provided [RCV002646058] Chr16:23552197 [GRCh38]
Chr16:23563518 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1540C>T (p.Arg514Trp) single nucleotide variant Inborn genetic diseases [RCV002869422] Chr16:23524403 [GRCh38]
Chr16:23535724 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1039G>A (p.Asp347Asn) single nucleotide variant Inborn genetic diseases [RCV002696972] Chr16:23532685 [GRCh38]
Chr16:23544006 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1194C>T (p.Tyr398=) single nucleotide variant not provided [RCV002575557] Chr16:23529771 [GRCh38]
Chr16:23541092 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1195G>T (p.Val399Leu) single nucleotide variant not provided [RCV002983011] Chr16:23529770 [GRCh38]
Chr16:23541091 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.513C>T (p.Ser171=) single nucleotide variant not provided [RCV002985441] Chr16:23535333 [GRCh38]
Chr16:23546654 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.184A>T (p.Ile62Phe) single nucleotide variant not provided [RCV003058496] Chr16:23552260 [GRCh38]
Chr16:23563581 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.545A>G (p.Asp182Gly) single nucleotide variant Inborn genetic diseases [RCV003377837]|not provided [RCV003023884] Chr16:23535301 [GRCh38]
Chr16:23546622 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.61C>A (p.Pro21Thr) single nucleotide variant not provided [RCV002954173] Chr16:23557283 [GRCh38]
Chr16:23568604 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1465C>T (p.Arg489Trp) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003487040]|not provided [RCV002741652] Chr16:23525267 [GRCh38]
Chr16:23536588 [GRCh37]
Chr16:16p12.2		 pathogenic|uncertain significance
NM_001083614.2(EARS2):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV002594192] Chr16:23535283 [GRCh38]
Chr16:23546604 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.697G>T (p.Val233Leu) single nucleotide variant not provided [RCV002958029] Chr16:23535149 [GRCh38]
Chr16:23546470 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.393G>A (p.Leu131=) single nucleotide variant not provided [RCV002700760] Chr16:23544606 [GRCh38]
Chr16:23555927 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.31C>A (p.Arg11Ser) single nucleotide variant Inborn genetic diseases [RCV002575644]|not provided [RCV002582837] Chr16:23557313 [GRCh38]
Chr16:23568634 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1140G>A (p.Val380=) single nucleotide variant not provided [RCV002675487] Chr16:23529825 [GRCh38]
Chr16:23541146 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1249G>A (p.Val417Met) single nucleotide variant not provided [RCV003064087] Chr16:23529605 [GRCh38]
Chr16:23540926 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1413del (p.Lys471fs) deletion not provided [RCV003064331] Chr16:23525319 [GRCh38]
Chr16:23536640 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.186C>A (p.Ile62=) single nucleotide variant not provided [RCV003087697] Chr16:23552258 [GRCh38]
Chr16:23563579 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1270_1277del (p.Leu424fs) deletion not provided [RCV002937824] Chr16:23529577..23529584 [GRCh38]
Chr16:23540898..23540905 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.1510A>G (p.Met504Val) single nucleotide variant Inborn genetic diseases [RCV002856070] Chr16:23524433 [GRCh38]
Chr16:23535754 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.273T>C (p.Ile91=) single nucleotide variant not provided [RCV002834524] Chr16:23552171 [GRCh38]
Chr16:23563492 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.247G>T (p.Val83Phe) single nucleotide variant Inborn genetic diseases [RCV002942483]|not provided [RCV002938962] Chr16:23552197 [GRCh38]
Chr16:23563518 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.1004A>G (p.Asn335Ser) single nucleotide variant not provided [RCV002988693] Chr16:23532720 [GRCh38]
Chr16:23544041 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.151C>T (p.Leu51=) single nucleotide variant not provided [RCV002576622] Chr16:23552293 [GRCh38]
Chr16:23563614 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1488G>T (p.Gln496His) single nucleotide variant not provided [RCV003043911] Chr16:23525244 [GRCh38]
Chr16:23536565 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1353-11TCT[2] microsatellite not provided [RCV002580196] Chr16:23525382..23525384 [GRCh38]
Chr16:23536703..23536705 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1107G>T (p.Arg369Ser) single nucleotide variant not provided [RCV002578972] Chr16:23529858 [GRCh38]
Chr16:23541179 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.197del (p.Lys66fs) deletion not provided [RCV002833026] Chr16:23552247 [GRCh38]
Chr16:23563568 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.474C>A (p.His158Gln) single nucleotide variant not provided [RCV002653841] Chr16:23544525 [GRCh38]
Chr16:23555846 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1488+16G>A single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003333225]|not provided [RCV002814311] Chr16:23525228 [GRCh38]
Chr16:23536549 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.959-17dup duplication not provided [RCV002654465] Chr16:23532781..23532782 [GRCh38]
Chr16:23544102..23544103 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.983C>T (p.Pro328Leu) single nucleotide variant Inborn genetic diseases [RCV002612106]|not provided [RCV002612105] Chr16:23532741 [GRCh38]
Chr16:23544062 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1326G>A (p.Val442=) single nucleotide variant not provided [RCV002610306] Chr16:23529528 [GRCh38]
Chr16:23540849 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1393C>T (p.Leu465=) single nucleotide variant not provided [RCV002610310] Chr16:23525339 [GRCh38]
Chr16:23536660 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.451A>T (p.Lys151Ter) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003144917] Chr16:23544548 [GRCh38]
Chr16:23555869 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.1556del (p.Lys519fs) deletion not provided [RCV003229270] Chr16:23524387 [GRCh38]
Chr16:23535708 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.302C>T (p.Pro101Leu) single nucleotide variant Inborn genetic diseases [RCV003194588] Chr16:23544697 [GRCh38]
Chr16:23556018 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.30G>T (p.Gln10His) single nucleotide variant Inborn genetic diseases [RCV003217827] Chr16:23557314 [GRCh38]
Chr16:23568635 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.341C>T (p.Pro114Leu) single nucleotide variant Inborn genetic diseases [RCV003309094] Chr16:23544658 [GRCh38]
Chr16:23555979 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.716T>C (p.Met239Thr) single nucleotide variant not provided [RCV003329841] Chr16:23535130 [GRCh38]
Chr16:23546451 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.209G>A (p.Ser70Asn) single nucleotide variant Inborn genetic diseases [RCV003356908]|not provided [RCV003777536] Chr16:23552235 [GRCh38]
Chr16:23563556 [GRCh37]
Chr16:16p12.2		 likely benign|uncertain significance
NM_001083614.2(EARS2):c.72G>A (p.Arg24=) single nucleotide variant not provided [RCV003426636] Chr16:23557272 [GRCh38]
Chr16:23568593 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1007T>A (p.Leu336Gln) single nucleotide variant Inborn genetic diseases [RCV003350137] Chr16:23532717 [GRCh38]
Chr16:23544038 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.999G>C (p.Gln333His) single nucleotide variant Inborn genetic diseases [RCV003347610] Chr16:23532725 [GRCh38]
Chr16:23544046 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.349C>T (p.Gln117Ter) single nucleotide variant EARS2-Related Disorders [RCV003335931] Chr16:23544650 [GRCh38]
Chr16:23555971 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.1408A>C (p.Lys470Gln) single nucleotide variant Inborn genetic diseases [RCV003386222] Chr16:23525324 [GRCh38]
Chr16:23536645 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003456319] Chr16:23532709 [GRCh38]
Chr16:23544030 [GRCh37]
Chr16:16p12.2		 uncertain significance
NC_000016.9:g.(?_23532074)_(23568672_?)dup duplication not specified [RCV003404719] Chr16:23532074..23568672 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.790C>T (p.Leu264=) single nucleotide variant not provided [RCV003411293] Chr16:23535056 [GRCh38]
Chr16:23546377 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.947C>G (p.Ser316Ter) single nucleotide variant Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [RCV003389032] Chr16:23534899 [GRCh38]
Chr16:23546220 [GRCh37]
Chr16:16p12.2		 likely pathogenic
NM_001083614.2(EARS2):c.63C>A (p.Pro21=) single nucleotide variant not provided [RCV003550579] Chr16:23557281 [GRCh38]
Chr16:23568602 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.327C>T (p.Gly109=) single nucleotide variant not provided [RCV003827536] Chr16:23544672 [GRCh38]
Chr16:23555993 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.324G>A (p.Arg108=) single nucleotide variant not provided [RCV003810730] Chr16:23544675 [GRCh38]
Chr16:23555996 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.768G>A (p.Lys256=) single nucleotide variant not provided [RCV003677428] Chr16:23535078 [GRCh38]
Chr16:23546399 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.1503A>G (p.Val501=) single nucleotide variant not provided [RCV003860138] Chr16:23524440 [GRCh38]
Chr16:23535761 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.139+11C>A single nucleotide variant not provided [RCV003858054] Chr16:23557194 [GRCh38]
Chr16:23568515 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.794G>C (p.Gly265Ala) single nucleotide variant not provided [RCV003679650] Chr16:23535052 [GRCh38]
Chr16:23546373 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.163C>T (p.Arg55Cys) single nucleotide variant not provided [RCV003732289] Chr16:23552281 [GRCh38]
Chr16:23563602 [GRCh37]
Chr16:16p12.2		 uncertain significance
NM_001083614.2(EARS2):c.1159C>T (p.Gln387Ter) single nucleotide variant not provided [RCV003844376] Chr16:23529806 [GRCh38]
Chr16:23541127 [GRCh37]
Chr16:16p12.2		 pathogenic
NM_001083614.2(EARS2):c.777C>T (p.Leu259=) single nucleotide variant not provided [RCV003860014] Chr16:23535069 [GRCh38]
Chr16:23546390 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.*6G>A single nucleotide variant EARS2-related condition [RCV003967060] Chr16:23524365 [GRCh38]
Chr16:23535686 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.852G>A (p.Lys284=) single nucleotide variant EARS2-related condition [RCV003901912] Chr16:23534994 [GRCh38]
Chr16:23546315 [GRCh37]
Chr16:16p12.2		 likely benign
NM_001083614.2(EARS2):c.699G>A (p.Val233=) single nucleotide variant EARS2-related condition [RCV003971866] Chr16:23535147 [GRCh38]
Chr16:23546468 [GRCh37]
Chr16:16p12.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5002
Count of miRNA genes:1187
Interacting mature miRNAs:1477
Transcripts:ENST00000449606, ENST00000561859, ENST00000562402, ENST00000562581, ENST00000562799, ENST00000563232, ENST00000563459, ENST00000563499, ENST00000564461, ENST00000564501, ENST00000564668, ENST00000564759, ENST00000564776, ENST00000564987, ENST00000564997, ENST00000565344, ENST00000566017
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH65694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,534,470 - 23,534,609UniSTSGRCh37
Build 361623,441,971 - 23,442,110RGDNCBI36
Celera1622,312,644 - 22,312,783RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,625,137 - 21,625,276UniSTS
GeneMap99-GB4 RH Map16193.96UniSTS
NCBI RH Map16230.2UniSTS
RH65293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,534,470 - 23,534,613UniSTSGRCh37
Build 361623,441,971 - 23,442,114RGDNCBI36
Celera1622,312,644 - 22,312,787RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,625,137 - 21,625,280UniSTS
D16S316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,566,831 - 23,566,999UniSTSGRCh37
Build 361623,474,332 - 23,474,500RGDNCBI36
Celera1622,345,005 - 22,345,173RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,657,613 - 21,657,781UniSTS
WI-11144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,533,377 - 23,533,566UniSTSGRCh37
Build 361623,440,878 - 23,441,067RGDNCBI36
Celera1622,311,551 - 22,311,740RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,624,044 - 21,624,233UniSTS
GeneMap99-GB4 RH Map16193.96UniSTS
Whitehead-RH Map16113.5UniSTS
NCBI RH Map16230.2UniSTS
SHGC-57880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371623,534,520 - 23,534,669UniSTSGRCh37
Build 361623,442,021 - 23,442,170RGDNCBI36
Celera1622,312,694 - 22,312,843RGD
Cytogenetic Map16p12.2UniSTS
HuRef1621,625,187 - 21,625,336UniSTS
TNG Radiation Hybrid Map1613659.0UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 387 186 1112 205 685 182 1811 365 1383 294 1005 985 36 180 1105 3
Low 2045 2712 611 417 1185 282 2544 1818 2325 124 443 623 135 1024 1683 1
Below cutoff 86 78 10

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_003501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA306283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA692403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000449606   ⟹   ENSP00000395196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,520,754 - 23,557,350 (-)Ensembl
RefSeq Acc Id: ENST00000561859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,544,541 - 23,557,350 (-)Ensembl
RefSeq Acc Id: ENST00000562402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,532,748 - 23,535,449 (-)Ensembl
RefSeq Acc Id: ENST00000562581   ⟹   ENSP00000455519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,544,514 - 23,557,353 (-)Ensembl
RefSeq Acc Id: ENST00000562799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,552,207 - 23,557,350 (-)Ensembl
RefSeq Acc Id: ENST00000563232   ⟹   ENSP00000456218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,525,024 - 23,557,344 (-)Ensembl
RefSeq Acc Id: ENST00000563459   ⟹   ENSP00000456467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,522,017 - 23,557,350 (-)Ensembl
RefSeq Acc Id: ENST00000563499   ⟹   ENSP00000458604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,552,192 - 23,557,355 (-)Ensembl
RefSeq Acc Id: ENST00000564461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,544,508 - 23,557,054 (-)Ensembl
RefSeq Acc Id: ENST00000564501   ⟹   ENSP00000457107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,525,020 - 23,557,731 (-)Ensembl
RefSeq Acc Id: ENST00000564668   ⟹   ENSP00000455789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,535,320 - 23,557,364 (-)Ensembl
RefSeq Acc Id: ENST00000564759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,523,047 - 23,523,645 (-)Ensembl
RefSeq Acc Id: ENST00000564776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,523,037 - 23,524,084 (-)Ensembl
RefSeq Acc Id: ENST00000564987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,522,624 - 23,550,842 (-)Ensembl
RefSeq Acc Id: ENST00000564997   ⟹   ENSP00000455875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,544,565 - 23,557,364 (-)Ensembl
RefSeq Acc Id: ENST00000565344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,532,547 - 23,535,218 (-)Ensembl
RefSeq Acc Id: ENST00000566017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,535,274 - 23,545,262 (-)Ensembl
RefSeq Acc Id: ENST00000674054   ⟹   ENSP00000501251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1623,522,017 - 23,557,350 (-)Ensembl
RefSeq Acc Id: NM_001083614   ⟹   NP_001077083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,520,754 - 23,557,350 (-)NCBI
GRCh371623,533,334 - 23,568,696 (-)RGD
Build 361623,440,835 - 23,476,197 (-)NCBI Archive
Celera1622,311,508 - 22,346,870 (-)RGD
HuRef1621,624,001 - 21,659,478 (-)RGD
CHM1_11624,544,893 - 24,580,247 (-)NCBI
T2T-CHM13v2.01623,796,546 - 23,833,149 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308211   ⟹   NP_001295140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,525,020 - 23,557,375 (-)NCBI
CHM1_11624,547,894 - 24,580,247 (-)NCBI
T2T-CHM13v2.01623,800,806 - 23,833,174 (-)NCBI
Sequence:
RefSeq Acc Id: NR_003501
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,522,016 - 23,557,350 (-)NCBI
GRCh371623,533,334 - 23,568,696 (-)RGD
Build 361623,440,835 - 23,476,197 (-)NCBI Archive
Celera1622,311,508 - 22,346,870 (-)RGD
HuRef1621,624,001 - 21,659,478 (-)RGD
CHM1_11624,544,893 - 24,580,247 (-)NCBI
T2T-CHM13v2.01623,797,808 - 23,833,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545738   ⟹   XP_011544040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,520,754 - 23,557,350 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379612   ⟹   XP_054235587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,796,546 - 23,833,163 (-)NCBI
RefSeq Acc Id: XR_001751841
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381623,522,016 - 23,557,350 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008489056
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01623,797,808 - 23,833,163 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001077083   ⟸   NM_001083614
- Peptide Label: isoform 1
- UniProtKB: Q86YH3 (UniProtKB/Swiss-Prot),   D3DWF1 (UniProtKB/Swiss-Prot),   B3KTT2 (UniProtKB/Swiss-Prot),   Q8TF31 (UniProtKB/Swiss-Prot),   Q5JPH6 (UniProtKB/Swiss-Prot),   H3BTB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544040   ⟸   XM_011545738
- Peptide Label: isoform X1
- UniProtKB: H3BTB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295140   ⟸   NM_001308211
- Peptide Label: isoform 2
- UniProtKB: H3BTB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501251   ⟸   ENST00000674054
RefSeq Acc Id: ENSP00000455519   ⟸   ENST00000562581
RefSeq Acc Id: ENSP00000458604   ⟸   ENST00000563499
RefSeq Acc Id: ENSP00000456467   ⟸   ENST00000563459
RefSeq Acc Id: ENSP00000456218   ⟸   ENST00000563232
RefSeq Acc Id: ENSP00000457107   ⟸   ENST00000564501
RefSeq Acc Id: ENSP00000455875   ⟸   ENST00000564997
RefSeq Acc Id: ENSP00000455789   ⟸   ENST00000564668
RefSeq Acc Id: ENSP00000395196   ⟸   ENST00000449606
RefSeq Acc Id: XP_054235587   ⟸   XM_054379612
- Peptide Label: isoform X1
Protein Domains
Glutamyl/glutaminyl-tRNA synthetase class Ib

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5JPH6-F1-model_v2 AlphaFold Q5JPH6 1-523 view protein structure

Promoters
RGD ID:6792981
Promoter ID:HG_KWN:23310
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001083614,   NR_003501,   UC002DLU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361623,476,046 - 23,476,632 (-)MPROMDB
RGD ID:7231603
Promoter ID:EPDNEW_H21548
Type:initiation region
Name:EARS2_1
Description:glutamyl-tRNA synthetase 2, mitochondrial
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
GRCh381623,557,350 - 23,557,410EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29419 AgrOrtholog
COSMIC EARS2 COSMIC
Ensembl Genes ENSG00000103356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000449606 ENTREZGENE
  ENST00000449606.7 UniProtKB/Swiss-Prot
  ENST00000562581.5 UniProtKB/TrEMBL
  ENST00000563232 ENTREZGENE
  ENST00000563232.1 UniProtKB/Swiss-Prot
  ENST00000563499.1 UniProtKB/TrEMBL
  ENST00000564501.5 UniProtKB/TrEMBL
  ENST00000564668.5 UniProtKB/TrEMBL
  ENST00000564997.1 UniProtKB/TrEMBL
  ENST00000674054.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.350 UniProtKB/Swiss-Prot
  3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103356 GTEx
HGNC ID HGNC:29419 ENTREZGENE
Human Proteome Map EARS2 Human Proteome Map
InterPro aa-tRNA-synth_I_cd-bd UniProtKB/Swiss-Prot
  aa-tRNA-synth_I_codon-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_I_codon-bd_sub2 UniProtKB/Swiss-Prot
  aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu-tRNA-ligase_bac/mito UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gln-tRNA-synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gln-tRNA-synth_Ib_cat-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GluRS_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124454 UniProtKB/Swiss-Prot
NCBI Gene 124454 ENTREZGENE
OMIM 612799 OMIM
PANTHER GLUTAMATE--TRNA LIGASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLUTAMATE--TRNA LIGASE, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Anticodon_2 UniProtKB/Swiss-Prot
  tRNA-synt_1c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596439 PharmGKB
PRINTS TRNASYNTHGLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Nucleotidylyl transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48163 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KTT2 ENTREZGENE
  D3DWF1 ENTREZGENE
  H3BPY3_HUMAN UniProtKB/TrEMBL
  H3BQI0_HUMAN UniProtKB/TrEMBL
  H3BQP8_HUMAN UniProtKB/TrEMBL
  H3BTB7 ENTREZGENE, UniProtKB/TrEMBL
  I3L166_HUMAN UniProtKB/TrEMBL
  Q5JPH6 ENTREZGENE
  Q86YH3 ENTREZGENE
  Q8TF31 ENTREZGENE
  SYEM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KTT2 UniProtKB/Swiss-Prot
  D3DWF1 UniProtKB/Swiss-Prot
  Q86YH3 UniProtKB/Swiss-Prot
  Q8TF31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-30 EARS2  glutamyl-tRNA synthetase 2, mitochondrial    glutamyl-tRNA synthetase 2, mitochondrial (putative)  Symbol and/or name change 5135510 APPROVED