IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) - Rat Genome Database

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Gene: IARS2 (isoleucyl-tRNA synthetase 2, mitochondrial) Homo sapiens
Analyze
Symbol: IARS2
Name: isoleucyl-tRNA synthetase 2, mitochondrial
RGD ID: 1604336
HGNC Page HGNC:29685
Description: Predicted to enable isoleucine-tRNA ligase activity. Predicted to be involved in isoleucyl-tRNA aminoacylation and mitochondrial translation. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAGSSS; FLJ10326; ILERS; isoleucine tRNA ligase 2, mitochondrial; isoleucine--tRNA ligase; isoleucine--tRNA ligase, mitochondrial; isoleucine-tRNA synthetase 2, mitochondrial; isoleucyl-tRNA synthetase, mitochondrial; mitochondrial isoleucine tRNA synthetase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IARS2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381220,094,132 - 220,148,041 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1220,094,132 - 220,148,041 (+)EnsemblGRCh38hg38GRCh38
GRCh371220,267,474 - 220,321,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,334,078 - 218,388,006 (+)NCBINCBI36Build 36hg18NCBI36
Celera1193,486,662 - 193,540,592 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1190,941,806 - 190,995,804 (+)NCBIHuRef
CHM1_11221,540,260 - 221,593,871 (+)NCBICHM1_1
T2T-CHM13v2.01219,333,406 - 219,387,315 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IEA)
membrane  (IEA)
mitochondrial matrix  (IEA,TAS)
mitochondrion  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Achalasia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Brachydactyly  (IAGP)
Breech presentation  (IAGP)
Cataract  (IAGP)
Central adrenal insufficiency  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Coronal cleft vertebrae  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Deeply set eye  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Dislocation of the femoral head  (IAGP)
Distal sensory impairment  (IAGP)
Esotropia  (IAGP)
Fasting hypoglycemia  (IAGP)
Flared metaphysis  (IAGP)
Flat forehead  (IAGP)
Flexion contracture  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hip dislocation  (IAGP)
Horizontal nystagmus  (IAGP)
Hydrocephalus  (IAGP)
Hyperlordosis  (IAGP)
Hypermetropia  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Infantile onset  (IAGP)
Infra-orbital crease  (IAGP)
Joint hypermobility  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Long philtrum  (IAGP)
Mandibular prognathia  (IAGP)
Metaphyseal irregularity  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Narrow mouth  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Pain insensitivity  (IAGP)
Parathyroid carcinoma  (IAGP)
Periarticular subcutaneous nodules  (IAGP)
Peripheral neuropathy  (IAGP)
Pes planus  (IAGP)
Poikiloderma  (IAGP)
Prelingual sensorineural hearing impairment  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Scoliosis  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Short long bone  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Skeletal dysplasia  (IAGP)
Small foramen magnum  (IAGP)
Spinal canal stenosis  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Telangiectasia of the skin  (IAGP)
Thick eyebrow  (IAGP)
Thin vermilion border  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Underdeveloped nasal alae  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9466989   PMID:12477932   PMID:14702039   PMID:15161933   PMID:15489334   PMID:16263121   PMID:16710414   PMID:17081983   PMID:18029348   PMID:19209188   PMID:19490893   PMID:20877624  
PMID:21832049   PMID:21873635   PMID:22586326   PMID:22939629   PMID:24344204   PMID:25036637   PMID:25130867   PMID:25277244   PMID:25609649   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26508657   PMID:26638075   PMID:26639235   PMID:26722399   PMID:27078007   PMID:27375898   PMID:28380382   PMID:28514442   PMID:28718761   PMID:28883622   PMID:29395067  
PMID:29568061   PMID:29955894   PMID:30021884   PMID:30575818   PMID:30711629   PMID:30832756   PMID:30833792   PMID:30948266   PMID:31056398   PMID:31091453   PMID:31300519   PMID:31519766  
PMID:31536960   PMID:31551363   PMID:31586073   PMID:31617661   PMID:31722399   PMID:31871319   PMID:31980649   PMID:32129710   PMID:32457219   PMID:32628020   PMID:32687490   PMID:32807901  
PMID:32877691   PMID:33226137   PMID:33327715   PMID:33567341   PMID:33845483   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34591612   PMID:34672954  
PMID:34709727   PMID:35012549   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35563538   PMID:35687106   PMID:35831314   PMID:35844135   PMID:35944360   PMID:36114006  
PMID:36215168   PMID:36225252   PMID:36261009   PMID:36517590   PMID:36526897   PMID:36538041   PMID:37120454   PMID:37689310   PMID:37827155   PMID:37866880  


Genomics

Comparative Map Data
IARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381220,094,132 - 220,148,041 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1220,094,132 - 220,148,041 (+)EnsemblGRCh38hg38GRCh38
GRCh371220,267,474 - 220,321,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361218,334,078 - 218,388,006 (+)NCBINCBI36Build 36hg18NCBI36
Celera1193,486,662 - 193,540,592 (+)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1190,941,806 - 190,995,804 (+)NCBIHuRef
CHM1_11221,540,260 - 221,593,871 (+)NCBICHM1_1
T2T-CHM13v2.01219,333,406 - 219,387,315 (+)NCBIT2T-CHM13v2.0
Iars2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391185,018,839 - 185,061,615 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1185,016,923 - 185,061,593 (-)EnsemblGRCm39 Ensembl
GRCm381185,286,642 - 185,329,419 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1185,284,726 - 185,329,396 (-)EnsemblGRCm38mm10GRCm38
MGSCv371187,110,541 - 187,153,280 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361186,987,450 - 187,030,189 (-)NCBIMGSCv36mm8
Celera1192,244,078 - 192,279,032 (-)NCBICelera
Cytogenetic Map1H5NCBI
cM Map189.48NCBI
Iars2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81399,363,035 - 99,397,068 (-)NCBIGRCr8
mRatBN7.21396,831,484 - 96,865,518 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1396,831,484 - 96,865,501 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1399,330,620 - 99,364,644 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013100,736,584 - 100,770,617 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01397,912,874 - 97,946,903 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013103,229,868 - 103,265,019 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13103,231,387 - 103,264,906 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013107,904,738 - 107,938,042 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413101,289,607 - 101,337,461 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113101,481,932 - 101,526,405 (-)NCBI
Celera1396,346,977 - 96,378,913 (-)NCBICelera
Cytogenetic Map13q26NCBI
Iars2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555203,485,816 - 3,520,549 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555203,485,816 - 3,521,035 (-)NCBIChiLan1.0ChiLan1.0
IARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2129,265,349 - 29,319,096 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1129,227,709 - 29,281,454 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01195,666,995 - 195,720,661 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11200,703,860 - 200,756,849 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1200,703,711 - 200,757,648 (+)Ensemblpanpan1.1panPan2
IARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13814,864,004 - 14,925,684 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3814,863,998 - 14,925,635 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3814,906,454 - 14,968,937 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03814,899,113 - 14,961,588 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3814,898,983 - 14,962,667 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13814,909,808 - 14,971,917 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03815,255,376 - 15,317,833 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03815,543,643 - 15,606,062 (+)NCBIUU_Cfam_GSD_1.0
Iars2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934456,808,716 - 56,864,241 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366502,056,921 - 2,112,767 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366502,056,921 - 2,112,487 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl109,685,678 - 9,737,159 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1109,685,641 - 9,739,816 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21011,767,633 - 11,807,380 (+)NCBISscrofa10.2Sscrofa10.2susScr3
IARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1259,414,316 - 9,485,542 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl259,414,711 - 9,485,429 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660559,713,779 - 9,791,538 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iars2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248353,725,132 - 3,766,284 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248353,725,233 - 3,763,279 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IARS2
384 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000001.11:g.220093912T>A single nucleotide variant not provided [RCV001545124] Chr1:220093912 [GRCh38]
Chr1:220267254 [GRCh37]
Chr1:1q41
likely benign
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
NM_018060.3(IARS2):c.1766A>T (p.Glu589Val) single nucleotide variant Malignant melanoma [RCV000060088] Chr1:220126772 [GRCh38]
Chr1:220300114 [GRCh37]
Chr1:218366737 [NCBI36]
Chr1:1q41
not provided
NM_018060.3(IARS2):c.2710A>C (p.Ile904Leu) single nucleotide variant Malignant melanoma [RCV000060089] Chr1:220143093 [GRCh38]
Chr1:220316435 [GRCh37]
Chr1:218383058 [NCBI36]
Chr1:1q41
not provided
NM_018060.3(IARS2):c.1108C>T (p.Pro370Ser) single nucleotide variant Malignant melanoma [RCV000064540] Chr1:220105932 [GRCh38]
Chr1:220279274 [GRCh37]
Chr1:218345897 [NCBI36]
Chr1:1q41
not provided
NM_018060.3(IARS2):c.2880C>T (p.Phe960=) single nucleotide variant Malignant melanoma [RCV000064541] Chr1:220145637 [GRCh38]
Chr1:220318979 [GRCh37]
Chr1:218385602 [NCBI36]
Chr1:1q41
not provided
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV001334971]|Leigh syndrome [RCV000144716]|not provided [RCV000144955] Chr1:220126827 [GRCh38]
Chr1:220300169 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance|not provided
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000986556]|Leigh syndrome [RCV000144717]|not provided [RCV000144956]|not specified [RCV000601238] Chr1:220137990 [GRCh38]
Chr1:220311332 [GRCh37]
Chr1:1q41
pathogenic|likely benign|uncertain significance|not provided
NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) single nucleotide variant Cataract [RCV000144718]|Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000144954] Chr1:220143109 [GRCh38]
Chr1:220316451 [GRCh37]
Chr1:1q41
pathogenic|not provided
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.1151T>C (p.Met384Thr) single nucleotide variant not provided [RCV000224331] Chr1:220105975 [GRCh38]
Chr1:220279317 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.951G>A (p.Lys317=) single nucleotide variant Inborn genetic diseases [RCV002518525]|not provided [RCV001857839]|not specified [RCV000239219] Chr1:220103447 [GRCh38]
Chr1:220276789 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018060.4(IARS2):c.55C>T (p.Arg19Ter) single nucleotide variant not provided [RCV000578626] Chr1:220094271 [GRCh38]
Chr1:220267613 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_018060.4(IARS2):c.1328-5del deletion not provided [RCV001644704]|not specified [RCV000600915] Chr1:220110771 [GRCh38]
Chr1:220284113 [GRCh37]
Chr1:1q41
benign|no classifications from unflagged records
NM_018060.4(IARS2):c.2952_2958dup (p.Cys987fs) duplication not provided [RCV000599241] Chr1:220147545..220147546 [GRCh38]
Chr1:220320887..220320888 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2897-5dup duplication not provided [RCV002529501]|not specified [RCV000606589] Chr1:220147481..220147482 [GRCh38]
Chr1:220320823..220320824 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.1342C>T (p.Gln448Ter) single nucleotide variant not provided [RCV000599378] Chr1:220110800 [GRCh38]
Chr1:220284142 [GRCh37]
Chr1:1q41
likely pathogenic
NM_018060.4(IARS2):c.700-11G>C single nucleotide variant not provided [RCV001722618] Chr1:220102352 [GRCh38]
Chr1:220275694 [GRCh37]
Chr1:1q41
benign|likely benign
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
NM_018060.4(IARS2):c.111G>C (p.Thr37=) single nucleotide variant not provided [RCV000964849]|not specified [RCV000431155] Chr1:220094327 [GRCh38]
Chr1:220267669 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2316A>G (p.Glu772=) single nucleotide variant not provided [RCV002522392]|not specified [RCV000421021] Chr1:220140191 [GRCh38]
Chr1:220313533 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.390+10A>G single nucleotide variant not provided [RCV000958553]|not specified [RCV000431359] Chr1:220096236 [GRCh38]
Chr1:220269578 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.492A>G (p.Val164=) single nucleotide variant not specified [RCV000434821] Chr1:220100591 [GRCh38]
Chr1:220273933 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.267+8C>A single nucleotide variant not provided [RCV002065063]|not specified [RCV000424591] Chr1:220094491 [GRCh38]
Chr1:220267833 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV000676402]|not specified [RCV000435089] Chr1:220094257 [GRCh38]
Chr1:220267599 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.636C>T (p.Tyr212=) single nucleotide variant not specified [RCV000442880] Chr1:220102214 [GRCh38]
Chr1:220275556 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.990C>T (p.Tyr330=) single nucleotide variant not provided [RCV002063393]|not specified [RCV000419237] Chr1:220103486 [GRCh38]
Chr1:220276828 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1726A>G (p.Lys576Glu) single nucleotide variant not provided [RCV000676406]|not specified [RCV000435899] Chr1:220125322 [GRCh38]
Chr1:220298664 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) single nucleotide variant not provided [RCV000676401]|not specified [RCV000429298] Chr1:220094239 [GRCh38]
Chr1:220267581 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.390+7A>G single nucleotide variant not provided [RCV000890267] Chr1:220096233 [GRCh38]
Chr1:220269575 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) single nucleotide variant not provided [RCV000676405]|not specified [RCV000443724] Chr1:220114398 [GRCh38]
Chr1:220287740 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.2175+1G>A single nucleotide variant not provided [RCV000429997] Chr1:220138044 [GRCh38]
Chr1:220311386 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_018060.4(IARS2):c.267+5G>C single nucleotide variant not provided [RCV000890754] Chr1:220094488 [GRCh38]
Chr1:220267830 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.268-7A>T single nucleotide variant not provided [RCV000676403]|not specified [RCV000444119] Chr1:220096097 [GRCh38]
Chr1:220269439 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1809C>T (p.Ser603=) single nucleotide variant not provided [RCV000420181] Chr1:220126815 [GRCh38]
Chr1:220300157 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2896+12A>G single nucleotide variant not provided [RCV002062282]|not specified [RCV000426783] Chr1:220145665 [GRCh38]
Chr1:220319007 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.942T>C (p.Pro314=) single nucleotide variant not provided [RCV000899645] Chr1:220102769 [GRCh38]
Chr1:220276111 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.2691T>C (p.Asn897=) single nucleotide variant not provided [RCV000892260] Chr1:220143074 [GRCh38]
Chr1:220316416 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.699+17dup duplication not provided [RCV002063750]|not specified [RCV000484328] Chr1:220102288..220102289 [GRCh38]
Chr1:220275630..220275631 [GRCh37]
Chr1:1q41
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_018060.4(IARS2):c.2337T>G (p.Phe779Leu) single nucleotide variant Inborn genetic diseases [RCV003254122] Chr1:220140212 [GRCh38]
Chr1:220313554 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1770T>C (p.Tyr590=) single nucleotide variant not provided [RCV002529723]|not specified [RCV000607175] Chr1:220126776 [GRCh38]
Chr1:220300118 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2661C>G (p.Asp887Glu) single nucleotide variant Inborn genetic diseases [RCV003240509] Chr1:220143044 [GRCh38]
Chr1:220316386 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.225G>T (p.Leu75=) single nucleotide variant not provided [RCV001707801] Chr1:220094441 [GRCh38]
Chr1:220267783 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.453C>T (p.Pro151=) single nucleotide variant not provided [RCV002062902]|not specified [RCV000615194] Chr1:220100552 [GRCh38]
Chr1:220273894 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2897-15T>C single nucleotide variant not provided [RCV002063979]|not specified [RCV000612773] Chr1:220147478 [GRCh38]
Chr1:220320820 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.1947-20del deletion not specified [RCV000610103] Chr1:220136789 [GRCh38]
Chr1:220310131 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.-35G>T single nucleotide variant not specified [RCV000616150] Chr1:220094182 [GRCh38]
Chr1:220267524 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.300A>G (p.Gln100=) single nucleotide variant not specified [RCV000616552] Chr1:220096136 [GRCh38]
Chr1:220269478 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1164G>A (p.Thr388=) single nucleotide variant not provided [RCV000908939] Chr1:220105988 [GRCh38]
Chr1:220279330 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.1020T>G (p.Val340=) single nucleotide variant not specified [RCV000608184] Chr1:220103516 [GRCh38]
Chr1:220276858 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.551-3del deletion not provided [RCV001698034] Chr1:220102119 [GRCh38]
Chr1:220275461 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.1328-18G>T single nucleotide variant not provided [RCV002063243]|not specified [RCV000608982] Chr1:220110768 [GRCh38]
Chr1:220284110 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2307+14A>G single nucleotide variant not provided [RCV002064185]|not specified [RCV000611677] Chr1:220139153 [GRCh38]
Chr1:220312495 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.2976G>A (p.Lys992=) single nucleotide variant not provided [RCV001722600] Chr1:220147572 [GRCh38]
Chr1:220320914 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1554A>T (p.Pro518=) single nucleotide variant not specified [RCV000604937] Chr1:220114388 [GRCh38]
Chr1:220287730 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000714684] Chr1:220114338 [GRCh38]
Chr1:220287680 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.268-4del deletion not provided [RCV000676404] Chr1:220096097 [GRCh38]
Chr1:220269439 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q41(chr1:220262511-220346373)x1 copy number loss not provided [RCV000684703] Chr1:220262511..220346373 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2176-47G>A single nucleotide variant not provided [RCV001547027] Chr1:220138961 [GRCh38]
Chr1:220312303 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_018060.4(IARS2):c.1215G>A (p.Ala405=) single nucleotide variant not provided [RCV001584800] Chr1:220106039 [GRCh38]
Chr1:220279381 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.267+10C>G single nucleotide variant not provided [RCV000916290] Chr1:220094493 [GRCh38]
Chr1:220267835 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2103T>C (p.Ala701=) single nucleotide variant not provided [RCV000902783] Chr1:220137971 [GRCh38]
Chr1:220311313 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2781C>T (p.Thr927=) single nucleotide variant not provided [RCV000900511] Chr1:220145538 [GRCh38]
Chr1:220318880 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1689T>C (p.Asp563=) single nucleotide variant not provided [RCV000892048] Chr1:220125285 [GRCh38]
Chr1:220298627 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.137C>T (p.Ser46Phe) single nucleotide variant not provided [RCV000948581] Chr1:220094353 [GRCh38]
Chr1:220267695 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.268-8T>A single nucleotide variant not provided [RCV000942746] Chr1:220096096 [GRCh38]
Chr1:220269438 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 copy number gain not provided [RCV000848714] Chr1:219379258..222049547 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2282A>G (p.His761Arg) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000791258] Chr1:220139114 [GRCh38]
Chr1:220312456 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.741G>A (p.Pro247=) single nucleotide variant not provided [RCV000930532] Chr1:220102404 [GRCh38]
Chr1:220275746 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2646G>A (p.Ala882=) single nucleotide variant not provided [RCV000908020] Chr1:220143029 [GRCh38]
Chr1:220316371 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.550+10C>T single nucleotide variant not provided [RCV000982960] Chr1:220100659 [GRCh38]
Chr1:220274001 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1943A>G (p.Tyr648Cys) single nucleotide variant Inborn genetic diseases [RCV002540750]|not provided [RCV000906529] Chr1:220134507 [GRCh38]
Chr1:220307849 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.551-93G>A single nucleotide variant not provided [RCV000835540] Chr1:220102036 [GRCh38]
Chr1:220275378 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2049+94A>C single nucleotide variant not provided [RCV000835626] Chr1:220137005 [GRCh38]
Chr1:220310347 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1480-306C>T single nucleotide variant not provided [RCV000840473] Chr1:220114008 [GRCh38]
Chr1:220287350 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1640+284G>A single nucleotide variant not provided [RCV000840474] Chr1:220114758 [GRCh38]
Chr1:220288100 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2896+306T>G single nucleotide variant not provided [RCV000840519] Chr1:220145959 [GRCh38]
Chr1:220319301 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.680T>C (p.Phe227Ser) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000791255] Chr1:220102258 [GRCh38]
Chr1:220275600 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.2450G>A (p.Arg817His) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000791256] Chr1:220141838 [GRCh38]
Chr1:220315180 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.391-268T>G single nucleotide variant not provided [RCV000840411] Chr1:220100222 [GRCh38]
Chr1:220273564 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.950+214A>G single nucleotide variant not provided [RCV000840412] Chr1:220102991 [GRCh38]
Chr1:220276333 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2414+222G>A single nucleotide variant not provided [RCV000840413] Chr1:220140511 [GRCh38]
Chr1:220313853 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1066+191T>G single nucleotide variant not provided [RCV000840414] Chr1:220103753 [GRCh38]
Chr1:220277095 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1480-195C>T single nucleotide variant not provided [RCV000840415] Chr1:220114119 [GRCh38]
Chr1:220287461 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2415-200G>A single nucleotide variant not provided [RCV000840416] Chr1:220141603 [GRCh38]
Chr1:220314945 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2897-294A>G single nucleotide variant not provided [RCV000840417] Chr1:220147199 [GRCh38]
Chr1:220320541 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1255G>A (p.Asp419Asn) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000986555] Chr1:220107079 [GRCh38]
Chr1:220280421 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2620G>A (p.Gly874Arg) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000791254] Chr1:220143003 [GRCh38]
Chr1:220316345 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.2702A>G (p.Tyr901Cys) single nucleotide variant not provided [RCV000994260] Chr1:220143085 [GRCh38]
Chr1:220316427 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2897-212C>T single nucleotide variant not provided [RCV000827470] Chr1:220147281 [GRCh38]
Chr1:220320623 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2725C>T (p.Pro909Ser) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV000791257] Chr1:220143108 [GRCh38]
Chr1:220316450 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.390+232C>T single nucleotide variant not provided [RCV000840466] Chr1:220096458 [GRCh38]
Chr1:220269800 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.551-301G>A single nucleotide variant not provided [RCV000840467] Chr1:220101828 [GRCh38]
Chr1:220275170 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1038A>G (p.Thr346=) single nucleotide variant not provided [RCV000919992] Chr1:220103534 [GRCh38]
Chr1:220276876 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093909del deletion not provided [RCV001608869] Chr1:220093897 [GRCh38]
Chr1:220267239 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1744-57T>C single nucleotide variant not provided [RCV000835625] Chr1:220126693 [GRCh38]
Chr1:220300035 [GRCh37]
Chr1:1q41
benign
NM_018060.3(IARS2):c.-128T>A single nucleotide variant not provided [RCV000835887] Chr1:220094089 [GRCh38]
Chr1:220267431 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 copy number loss not provided [RCV001005174] Chr1:219734913..224104993 [GRCh37]
Chr1:1q41-42.11
pathogenic
GRCh37/hg19 1q41(chr1:219959610-220609144)x3 copy number gain not provided [RCV001005177] Chr1:219959610..220609144 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
NM_018060.4(IARS2):c.1827T>C (p.Tyr609=) single nucleotide variant not provided [RCV003104357] Chr1:220126833 [GRCh38]
Chr1:220300175 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.547_550del (p.Lys183fs) microsatellite Leigh syndrome [RCV003110149]|not provided [RCV003456570] Chr1:220100640..220100643 [GRCh38]
Chr1:220273982..220273985 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_018060.4(IARS2):c.391-113G>T single nucleotide variant not provided [RCV001590317] Chr1:220100377 [GRCh38]
Chr1:220273719 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1328-198A>T single nucleotide variant not provided [RCV001555007] Chr1:220110588 [GRCh38]
Chr1:220283930 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093907_220093911del deletion not provided [RCV001555360] Chr1:220093906..220093910 [GRCh38]
Chr1:220267248..220267252 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093910del deletion not provided [RCV001598419] Chr1:220093910 [GRCh38]
Chr1:220267252 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1946+258G>T single nucleotide variant not provided [RCV001715821] Chr1:220134768 [GRCh38]
Chr1:220308110 [GRCh37]
Chr1:1q41
benign
NC_000001.11:g.220093909AT[8] microsatellite not provided [RCV001593750] Chr1:220093909..220093910 [GRCh38]
Chr1:220267251..220267252 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.551-297C>G single nucleotide variant not provided [RCV001618165] Chr1:220101832 [GRCh38]
Chr1:220275174 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.*46A>G single nucleotide variant not provided [RCV001716221] Chr1:220147681 [GRCh38]
Chr1:220321023 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1947-351G>C single nucleotide variant not provided [RCV001671943] Chr1:220136458 [GRCh38]
Chr1:220309800 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1640+265del deletion not provided [RCV001587196] Chr1:220114739 [GRCh38]
Chr1:220288081 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2073T>C (p.Tyr691=) single nucleotide variant not provided [RCV001570478] Chr1:220137941 [GRCh38]
Chr1:220311283 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2415-169C>T single nucleotide variant not provided [RCV001541791] Chr1:220141634 [GRCh38]
Chr1:220314976 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.800G>A (p.Arg267His) single nucleotide variant not provided [RCV000931050] Chr1:220102545 [GRCh38]
Chr1:220275887 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_018060.4(IARS2):c.3019G>C (p.Glu1007Gln) single nucleotide variant not provided [RCV000974888] Chr1:220147615 [GRCh38]
Chr1:220320957 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.228G>C (p.Leu76=) single nucleotide variant not provided [RCV000885588] Chr1:220094444 [GRCh38]
Chr1:220267786 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2128G>A (p.Ala710Thr) single nucleotide variant not provided [RCV000913541] Chr1:220137996 [GRCh38]
Chr1:220311338 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2896+114C>T single nucleotide variant not provided [RCV001596082] Chr1:220145767 [GRCh38]
Chr1:220319109 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2414+185G>A single nucleotide variant not provided [RCV001553528] Chr1:220140474 [GRCh38]
Chr1:220313816 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2414+84A>G single nucleotide variant not provided [RCV001675082] Chr1:220140373 [GRCh38]
Chr1:220313715 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser) single nucleotide variant not provided [RCV001592287] Chr1:220103553 [GRCh38]
Chr1:220276895 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_018060.4(IARS2):c.1946+275del deletion not provided [RCV001671762] Chr1:220134769 [GRCh38]
Chr1:220308111 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.551-305C>T single nucleotide variant not provided [RCV001590613] Chr1:220101824 [GRCh38]
Chr1:220275166 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2752-87C>T single nucleotide variant not provided [RCV001590791] Chr1:220145422 [GRCh38]
Chr1:220318764 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1838-68A>G single nucleotide variant not provided [RCV001640901] Chr1:220134334 [GRCh38]
Chr1:220307676 [GRCh37]
Chr1:1q41
benign
NC_000001.11:g.220093908_220093909del deletion not provided [RCV001598314] Chr1:220093897..220093898 [GRCh38]
Chr1:220267239..220267240 [GRCh37]
Chr1:1q41
benign
NC_000001.11:g.220093909_220093911del deletion not provided [RCV001715878] Chr1:220093908..220093910 [GRCh38]
Chr1:220267250..220267252 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1067-263T>C single nucleotide variant not provided [RCV001596341] Chr1:220105628 [GRCh38]
Chr1:220278970 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093910_220093912del deletion not provided [RCV001671274] Chr1:220093910..220093912 [GRCh38]
Chr1:220267252..220267254 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.950+185C>T single nucleotide variant not provided [RCV001636095] Chr1:220102962 [GRCh38]
Chr1:220276304 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NM_018060.4(IARS2):c.1237-214G>A single nucleotide variant not provided [RCV001567524] Chr1:220106847 [GRCh38]
Chr1:220280189 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093908A>T single nucleotide variant not provided [RCV001696024] Chr1:220093908 [GRCh38]
Chr1:220267250 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2307+152G>T single nucleotide variant not provided [RCV001583370] Chr1:220139291 [GRCh38]
Chr1:220312633 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1640+98G>A single nucleotide variant not provided [RCV001584752] Chr1:220114572 [GRCh38]
Chr1:220287914 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1328-5dup duplication Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV002502024]|not provided [RCV001694673] Chr1:220110770..220110771 [GRCh38]
Chr1:220284112..220284113 [GRCh37]
Chr1:1q41
benign|likely benign
NM_018060.4(IARS2):c.2752-269G>C single nucleotide variant not provided [RCV001581189] Chr1:220145240 [GRCh38]
Chr1:220318582 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1067-295A>G single nucleotide variant not provided [RCV001549338] Chr1:220105596 [GRCh38]
Chr1:220278938 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2896+115A>G single nucleotide variant not provided [RCV001611678] Chr1:220145768 [GRCh38]
Chr1:220319110 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2176-289A>C single nucleotide variant not provided [RCV001586959] Chr1:220138719 [GRCh38]
Chr1:220312061 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2050-78G>T single nucleotide variant not provided [RCV001547334] Chr1:220137840 [GRCh38]
Chr1:220311182 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV001334972] Chr1:220102179 [GRCh38]
Chr1:220275521 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV001333990]|not provided [RCV001785810] Chr1:220103512 [GRCh38]
Chr1:220276854 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2804T>C (p.Met935Thr) single nucleotide variant Inborn genetic diseases [RCV001266071]|not provided [RCV002537684] Chr1:220145561 [GRCh38]
Chr1:220318903 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.693T>A (p.Tyr231Ter) single nucleotide variant Inborn genetic diseases [RCV001266072] Chr1:220102271 [GRCh38]
Chr1:220275613 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2502dup (p.Ala835fs) duplication Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia [RCV001329039] Chr1:220141886..220141887 [GRCh38]
Chr1:220315228..220315229 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.749G>C (p.Arg250Thr) single nucleotide variant not provided [RCV001312200] Chr1:220102412 [GRCh38]
Chr1:220275754 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_018060.4(IARS2):c.2896+161G>A single nucleotide variant not provided [RCV001538936] Chr1:220145814 [GRCh38]
Chr1:220319156 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1837+27G>A single nucleotide variant not provided [RCV001530749] Chr1:220126870 [GRCh38]
Chr1:220300212 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2752-329T>C single nucleotide variant not provided [RCV001535079] Chr1:220145180 [GRCh38]
Chr1:220318522 [GRCh37]
Chr1:1q41
benign
NC_000001.11:g.220093908_220093911del deletion not provided [RCV001609291] Chr1:220093907..220093910 [GRCh38]
Chr1:220267249..220267252 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1946+287G>T single nucleotide variant not provided [RCV001715790] Chr1:220134797 [GRCh38]
Chr1:220308139 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.950+231G>A single nucleotide variant not provided [RCV001590208] Chr1:220103008 [GRCh38]
Chr1:220276350 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093906A>T single nucleotide variant not provided [RCV001583310] Chr1:220093906 [GRCh38]
Chr1:220267248 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093907_220093909del deletion not provided [RCV001686008] Chr1:220093897..220093899 [GRCh38]
Chr1:220267239..220267241 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1479+112T>C single nucleotide variant not provided [RCV001590603] Chr1:220111049 [GRCh38]
Chr1:220284391 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.220093912del deletion not provided [RCV001536784] Chr1:220093912 [GRCh38]
Chr1:220267254 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2862C>T (p.Ile954=) single nucleotide variant not provided [RCV003109016] Chr1:220145619 [GRCh38]
Chr1:220318961 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1043T>G (p.Phe348Cys) single nucleotide variant not provided [RCV001726783] Chr1:220103539 [GRCh38]
Chr1:220276881 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.752C>T (p.Thr251Ile) single nucleotide variant not provided [RCV003108642] Chr1:220102497 [GRCh38]
Chr1:220275839 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1166G>C (p.Gly389Ala) single nucleotide variant Developmental cataract [RCV001775026] Chr1:220105990 [GRCh38]
Chr1:220279332 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1549C>T (p.Arg517Trp) single nucleotide variant not provided [RCV001754109] Chr1:220114383 [GRCh38]
Chr1:220287725 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2441C>A (p.Pro814His) single nucleotide variant not provided [RCV001763290] Chr1:220141829 [GRCh38]
Chr1:220315171 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.866C>T (p.Ser289Leu) single nucleotide variant not provided [RCV001772565] Chr1:220102693 [GRCh38]
Chr1:220276035 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.555A>T (p.Arg185Ser) single nucleotide variant Inborn genetic diseases [RCV002544296]|not provided [RCV001786315] Chr1:220102133 [GRCh38]
Chr1:220275475 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2266G>C (p.Asp756His) single nucleotide variant not provided [RCV001764894] Chr1:220139098 [GRCh38]
Chr1:220312440 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1943A>C (p.Tyr648Ser) single nucleotide variant not provided [RCV001763586] Chr1:220134507 [GRCh38]
Chr1:220307849 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.267+2T>A single nucleotide variant not provided [RCV001864480] Chr1:220094485 [GRCh38]
Chr1:220267827 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_018060.4(IARS2):c.2575T>C (p.Phe859Leu) single nucleotide variant not provided [RCV001915443] Chr1:220142958 [GRCh38]
Chr1:220316300 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:220070126-220600061)x3 copy number gain not provided [RCV001829108] Chr1:220070126..220600061 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2312C>G (p.Thr771Ser) single nucleotide variant not provided [RCV002025145] Chr1:220140187 [GRCh38]
Chr1:220313529 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2017A>G (p.Ile673Val) single nucleotide variant not provided [RCV001984640] Chr1:220136879 [GRCh38]
Chr1:220310221 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.286C>G (p.Leu96Val) single nucleotide variant not provided [RCV001863271] Chr1:220096122 [GRCh38]
Chr1:220269464 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1226A>G (p.Asn409Ser) single nucleotide variant not provided [RCV002045426] Chr1:220106050 [GRCh38]
Chr1:220279392 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.351T>G (p.Tyr117Ter) single nucleotide variant not provided [RCV001968936] Chr1:220096187 [GRCh38]
Chr1:220269529 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_018060.4(IARS2):c.526T>G (p.Ser176Ala) single nucleotide variant not provided [RCV001889796] Chr1:220100625 [GRCh38]
Chr1:220273967 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1885G>A (p.Gly629Arg) single nucleotide variant not provided [RCV002021241] Chr1:220134449 [GRCh38]
Chr1:220307791 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1027A>G (p.Thr343Ala) single nucleotide variant Inborn genetic diseases [RCV002642126]|not provided [RCV002042711] Chr1:220103523 [GRCh38]
Chr1:220276865 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_018060.4(IARS2):c.1620G>T (p.Lys540Asn) single nucleotide variant not provided [RCV001948314] Chr1:220114454 [GRCh38]
Chr1:220287796 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2029G>A (p.Val677Ile) single nucleotide variant not provided [RCV002007906] Chr1:220136891 [GRCh38]
Chr1:220310233 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2648G>A (p.Cys883Tyr) single nucleotide variant not provided [RCV001894739] Chr1:220143031 [GRCh38]
Chr1:220316373 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2450G>T (p.Arg817Leu) single nucleotide variant not provided [RCV001986707] Chr1:220141838 [GRCh38]
Chr1:220315180 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.68G>A (p.Gly23Glu) single nucleotide variant Inborn genetic diseases [RCV002548820]|not provided [RCV002021043] Chr1:220094284 [GRCh38]
Chr1:220267626 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV002002665] Chr1:220094232 [GRCh38]
Chr1:220267574 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.740C>T (p.Pro247Leu) single nucleotide variant not provided [RCV001892643] Chr1:220102403 [GRCh38]
Chr1:220275745 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.3036dup (p.Ter1013IleextTer?) duplication not provided [RCV001894882] Chr1:220147628..220147629 [GRCh38]
Chr1:220320970..220320971 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.406G>A (p.Ala136Thr) single nucleotide variant not provided [RCV001968925] Chr1:220100505 [GRCh38]
Chr1:220273847 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1327+6C>T single nucleotide variant not provided [RCV002001816] Chr1:220107157 [GRCh38]
Chr1:220280499 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1285G>C (p.Glu429Gln) single nucleotide variant Inborn genetic diseases [RCV002561565]|not provided [RCV001946522] Chr1:220107109 [GRCh38]
Chr1:220280451 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2307+6T>C single nucleotide variant not provided [RCV001948256] Chr1:220139145 [GRCh38]
Chr1:220312487 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2027A>G (p.Asp676Gly) single nucleotide variant Inborn genetic diseases [RCV002555324]|not provided [RCV001908975] Chr1:220136889 [GRCh38]
Chr1:220310231 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.2848A>C (p.Thr950Pro) single nucleotide variant not provided [RCV001973948] Chr1:220145605 [GRCh38]
Chr1:220318947 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.479T>C (p.Ile160Thr) single nucleotide variant not provided [RCV001962442] Chr1:220100578 [GRCh38]
Chr1:220273920 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1207G>A (p.Gly403Ser) single nucleotide variant Inborn genetic diseases [RCV002557871]|not provided [RCV001916677] Chr1:220106031 [GRCh38]
Chr1:220279373 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_018060.4(IARS2):c.2049+4G>A single nucleotide variant not provided [RCV002035948] Chr1:220136915 [GRCh38]
Chr1:220310257 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.30G>A (p.Pro10=) single nucleotide variant not provided [RCV001879637] Chr1:220094246 [GRCh38]
Chr1:220267588 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_018060.4(IARS2):c.1475C>T (p.Ala492Val) single nucleotide variant Inborn genetic diseases [RCV003303517]|not provided [RCV001963606] Chr1:220110933 [GRCh38]
Chr1:220284275 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.557C>T (p.Ser186Leu) single nucleotide variant not provided [RCV001919031] Chr1:220102135 [GRCh38]
Chr1:220275477 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1759G>A (p.Ala587Thr) single nucleotide variant Inborn genetic diseases [RCV003348713]|not provided [RCV001994429] Chr1:220126765 [GRCh38]
Chr1:220300107 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2806G>A (p.Ala936Thr) single nucleotide variant not provided [RCV001880365] Chr1:220145563 [GRCh38]
Chr1:220318905 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2951A>C (p.Lys984Thr) single nucleotide variant not provided [RCV001882321] Chr1:220147547 [GRCh38]
Chr1:220320889 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2888A>G (p.Asn963Ser) single nucleotide variant not provided [RCV001932864] Chr1:220145645 [GRCh38]
Chr1:220318987 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1292A>G (p.Gln431Arg) single nucleotide variant not provided [RCV001952238] Chr1:220107116 [GRCh38]
Chr1:220280458 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2752A>G (p.Met918Val) single nucleotide variant not provided [RCV001876701] Chr1:220145509 [GRCh38]
Chr1:220318851 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1163C>T (p.Thr388Met) single nucleotide variant not provided [RCV001978225] Chr1:220105987 [GRCh38]
Chr1:220279329 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2739T>G (p.Phe913Leu) single nucleotide variant not provided [RCV002046144] Chr1:220143122 [GRCh38]
Chr1:220316464 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2369A>G (p.Tyr790Cys) single nucleotide variant not provided [RCV001876858] Chr1:220140244 [GRCh38]
Chr1:220313586 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.3028A>G (p.Ser1010Gly) single nucleotide variant not provided [RCV001877048] Chr1:220147624 [GRCh38]
Chr1:220320966 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.417C>G (p.Phe139Leu) single nucleotide variant not provided [RCV001952674] Chr1:220100516 [GRCh38]
Chr1:220273858 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2984C>T (p.Ala995Val) single nucleotide variant not provided [RCV001973695] Chr1:220147580 [GRCh38]
Chr1:220320922 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2562G>C (p.Glu854Asp) single nucleotide variant not provided [RCV001995457] Chr1:220142945 [GRCh38]
Chr1:220316287 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2906T>C (p.Ile969Thr) single nucleotide variant not provided [RCV001878418] Chr1:220147502 [GRCh38]
Chr1:220320844 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2494C>A (p.Arg832Ser) single nucleotide variant not provided [RCV001904560] Chr1:220141882 [GRCh38]
Chr1:220315224 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2909G>A (p.Arg970His) single nucleotide variant not provided [RCV001924459] Chr1:220147505 [GRCh38]
Chr1:220320847 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1488A>T (p.Leu496Phe) single nucleotide variant not provided [RCV001955707] Chr1:220114322 [GRCh38]
Chr1:220287664 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.554G>A (p.Arg185Lys) single nucleotide variant Inborn genetic diseases [RCV002547914]|not provided [RCV001876357] Chr1:220102132 [GRCh38]
Chr1:220275474 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2192G>A (p.Arg731His) single nucleotide variant not provided [RCV001979483] Chr1:220139024 [GRCh38]
Chr1:220312366 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2131A>G (p.Ile711Val) single nucleotide variant not provided [RCV001898140] Chr1:220137999 [GRCh38]
Chr1:220311341 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.999G>A (p.Ala333=) single nucleotide variant not provided [RCV001996564] Chr1:220103495 [GRCh38]
Chr1:220276837 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_018060.4(IARS2):c.2915A>G (p.Glu972Gly) single nucleotide variant not provided [RCV001884518] Chr1:220147511 [GRCh38]
Chr1:220320853 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2543A>G (p.His848Arg) single nucleotide variant not provided [RCV001997734] Chr1:220141931 [GRCh38]
Chr1:220315273 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2014G>A (p.Val672Ile) single nucleotide variant not provided [RCV002035073] Chr1:220136876 [GRCh38]
Chr1:220310218 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1942_1945dup (p.Lys649delinsIleTer) microsatellite not provided [RCV001884588] Chr1:220134505..220134506 [GRCh38]
Chr1:220307847..220307848 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NC_000001.10:g.(?_220320815)_(220320977_?)del deletion not provided [RCV001992703] Chr1:220320815..220320977 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1093A>G (p.Ser365Gly) single nucleotide variant not provided [RCV002047617] Chr1:220105917 [GRCh38]
Chr1:220279259 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2111A>T (p.Asn704Ile) single nucleotide variant not provided [RCV002026391] Chr1:220137979 [GRCh38]
Chr1:220311321 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.79C>T (p.Leu27Phe) single nucleotide variant Inborn genetic diseases [RCV003164091]|not provided [RCV001878629] Chr1:220094295 [GRCh38]
Chr1:220267637 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.515C>G (p.Ala172Gly) single nucleotide variant Inborn genetic diseases [RCV002550290]|not provided [RCV001934696] Chr1:220100614 [GRCh38]
Chr1:220273956 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.55C>G (p.Arg19Gly) single nucleotide variant Inborn genetic diseases [RCV002557590]|not provided [RCV001906733] Chr1:220094271 [GRCh38]
Chr1:220267613 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2738T>C (p.Phe913Ser) single nucleotide variant not provided [RCV001906932] Chr1:220143121 [GRCh38]
Chr1:220316463 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2111A>G (p.Asn704Ser) single nucleotide variant not provided [RCV002034834] Chr1:220137979 [GRCh38]
Chr1:220311321 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2062G>T (p.Glu688Ter) single nucleotide variant not provided [RCV002031586] Chr1:220137930 [GRCh38]
Chr1:220311272 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_018060.4(IARS2):c.2669T>G (p.Leu890Arg) single nucleotide variant Leigh syndrome [RCV003107865]|not provided [RCV001876589] Chr1:220143052 [GRCh38]
Chr1:220316394 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2832G>C (p.Gln944His) single nucleotide variant not provided [RCV002031132] Chr1:220145589 [GRCh38]
Chr1:220318931 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.594A>C (p.Ala198=) single nucleotide variant not provided [RCV002112061] Chr1:220102172 [GRCh38]
Chr1:220275514 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1237-5T>C single nucleotide variant not provided [RCV002192512] Chr1:220107056 [GRCh38]
Chr1:220280398 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1774_1777del (p.Pro592fs) deletion not provided [RCV002211134] Chr1:220126779..220126782 [GRCh38]
Chr1:220300121..220300124 [GRCh37]
Chr1:1q41
likely pathogenic
NM_018060.4(IARS2):c.1066+16T>C single nucleotide variant not provided [RCV002206329] Chr1:220103578 [GRCh38]
Chr1:220276920 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1722T>A (p.Leu574=) single nucleotide variant not provided [RCV002125335] Chr1:220125318 [GRCh38]
Chr1:220298660 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2571T>C (p.Ser857=) single nucleotide variant not provided [RCV002087244] Chr1:220142954 [GRCh38]
Chr1:220316296 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1946+16T>C single nucleotide variant not provided [RCV002148334] Chr1:220134526 [GRCh38]
Chr1:220307868 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1328-14T>G single nucleotide variant not provided [RCV002148775] Chr1:220110772 [GRCh38]
Chr1:220284114 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.700-8T>C single nucleotide variant not provided [RCV002210272] Chr1:220102355 [GRCh38]
Chr1:220275697 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1641-9dup duplication not provided [RCV002206271] Chr1:220125222..220125223 [GRCh38]
Chr1:220298564..220298565 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.268-8dup duplication not provided [RCV002129343] Chr1:220096084..220096085 [GRCh38]
Chr1:220269426..220269427 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1743+13T>C single nucleotide variant not provided [RCV002127574] Chr1:220125352 [GRCh38]
Chr1:220298694 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1884C>T (p.Leu628=) single nucleotide variant not provided [RCV002149076] Chr1:220134448 [GRCh38]
Chr1:220307790 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1345A>G (p.Thr449Ala) single nucleotide variant not provided [RCV002211132] Chr1:220110803 [GRCh38]
Chr1:220284145 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2949G>A (p.Thr983=) single nucleotide variant not provided [RCV002116805] Chr1:220147545 [GRCh38]
Chr1:220320887 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2238C>T (p.Ser746=) single nucleotide variant not provided [RCV002213812] Chr1:220139070 [GRCh38]
Chr1:220312412 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2832G>A (p.Gln944=) single nucleotide variant not provided [RCV002077952] Chr1:220145589 [GRCh38]
Chr1:220318931 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.391-5T>C single nucleotide variant not provided [RCV002150236] Chr1:220100485 [GRCh38]
Chr1:220273827 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.267+14C>G single nucleotide variant not provided [RCV002134261] Chr1:220094497 [GRCh38]
Chr1:220267839 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.268-8del deletion Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV002498191]|not provided [RCV002188110] Chr1:220096085 [GRCh38]
Chr1:220269427 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1546A>G (p.Arg516Gly) single nucleotide variant not provided [RCV002211133] Chr1:220114380 [GRCh38]
Chr1:220287722 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2307+20C>A single nucleotide variant not provided [RCV002214725] Chr1:220139159 [GRCh38]
Chr1:220312501 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1160G>T (p.Gly387Val) single nucleotide variant not provided [RCV001944997] Chr1:220105984 [GRCh38]
Chr1:220279326 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1506T>C (p.Ile502=) single nucleotide variant not provided [RCV002205764] Chr1:220114340 [GRCh38]
Chr1:220287682 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1640+7T>C single nucleotide variant not provided [RCV002208647] Chr1:220114481 [GRCh38]
Chr1:220287823 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2414+17A>G single nucleotide variant not provided [RCV002196215] Chr1:220140306 [GRCh38]
Chr1:220313648 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.551-16T>G single nucleotide variant not provided [RCV002133920] Chr1:220102113 [GRCh38]
Chr1:220275455 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2752-16A>T single nucleotide variant not provided [RCV002201397] Chr1:220145493 [GRCh38]
Chr1:220318835 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln) single nucleotide variant not provided [RCV002198223] Chr1:220140235 [GRCh38]
Chr1:220313577 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_018060.4(IARS2):c.749+17C>T single nucleotide variant not provided [RCV002176067] Chr1:220102429 [GRCh38]
Chr1:220275771 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.93G>C (p.Pro31=) single nucleotide variant not provided [RCV002182525] Chr1:220094309 [GRCh38]
Chr1:220267651 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1837+17G>C single nucleotide variant not provided [RCV002201889] Chr1:220126860 [GRCh38]
Chr1:220300202 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.78C>T (p.Arg26=) single nucleotide variant not provided [RCV002161481] Chr1:220094294 [GRCh38]
Chr1:220267636 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.950+16C>T single nucleotide variant not provided [RCV002181027] Chr1:220102793 [GRCh38]
Chr1:220276135 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1837+12A>G single nucleotide variant not provided [RCV002179274] Chr1:220126855 [GRCh38]
Chr1:220300197 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2943G>A (p.Pro981=) single nucleotide variant not provided [RCV002202283] Chr1:220147539 [GRCh38]
Chr1:220320881 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.551-15T>C single nucleotide variant not provided [RCV002181907] Chr1:220102114 [GRCh38]
Chr1:220275456 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1551G>A (p.Arg517=) single nucleotide variant not provided [RCV002161314] Chr1:220114385 [GRCh38]
Chr1:220287727 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2142C>T (p.Ser714=) single nucleotide variant not provided [RCV003112833] Chr1:220138010 [GRCh38]
Chr1:220311352 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_220088791)_(220406225_?)dup duplication Martsolf syndrome [RCV003116595] Chr1:220088791..220406225 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_218520044)_(220986760_?)del deletion Martsolf syndrome [RCV003116596] Chr1:218520044..220986760 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.25G>A (p.Gly9Arg) single nucleotide variant not provided [RCV003118651] Chr1:220094241 [GRCh38]
Chr1:220267583 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_220298559)_(220325126_?)dup duplication not provided [RCV003119868] Chr1:220298559..220325126 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_220088791)_(220445679_?)del deletion not provided [RCV003119869] Chr1:220088791..220445679 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_220088791)_(220986760_?)dup duplication not provided [RCV003119870] Chr1:220088791..220986760 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV003156586] Chr1:220103509 [GRCh38]
Chr1:220276851 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV003152064] Chr1:220096189 [GRCh38]
Chr1:220269531 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2446C>T (p.Arg816Ter) single nucleotide variant not provided [RCV002292085] Chr1:220141834 [GRCh38]
Chr1:220315176 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.11:g.220093909_220093910insATATA insertion not provided [RCV002292166] Chr1:220093908..220093909 [GRCh38]
Chr1:220267250..220267251 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1256A>G (p.Asp419Gly) single nucleotide variant not provided [RCV002278868] Chr1:220107080 [GRCh38]
Chr1:220280422 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_018060.4(IARS2):c.2632G>A (p.Ala878Thr) single nucleotide variant not provided [RCV003149208] Chr1:220143015 [GRCh38]
Chr1:220316357 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2391T>A (p.Phe797Leu) single nucleotide variant Inborn genetic diseases [RCV002902015] Chr1:220140266 [GRCh38]
Chr1:220313608 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2350C>T (p.Arg784Trp) single nucleotide variant not provided [RCV003230121] Chr1:220140225 [GRCh38]
Chr1:220313567 [GRCh37]
Chr1:1q41
likely pathogenic
NM_018060.4(IARS2):c.2767G>A (p.Glu923Lys) single nucleotide variant not provided [RCV002305942] Chr1:220145524 [GRCh38]
Chr1:220318866 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.527C>T (p.Ser176Leu) single nucleotide variant Inborn genetic diseases [RCV003348970]|not provided [RCV002994185] Chr1:220100626 [GRCh38]
Chr1:220273968 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.749+18G>A single nucleotide variant not provided [RCV002771341] Chr1:220102430 [GRCh38]
Chr1:220275772 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2359C>A (p.Arg787=) single nucleotide variant not provided [RCV002865997] Chr1:220140234 [GRCh38]
Chr1:220313576 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2810C>G (p.Ser937Cys) single nucleotide variant not provided [RCV003017659] Chr1:220145567 [GRCh38]
Chr1:220318909 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2751+3A>G single nucleotide variant not provided [RCV002820117] Chr1:220143137 [GRCh38]
Chr1:220316479 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2359C>T (p.Arg787Trp) single nucleotide variant not provided [RCV002908937] Chr1:220140234 [GRCh38]
Chr1:220313576 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.288_289del (p.Tyr97fs) deletion not provided [RCV002617982] Chr1:220096123..220096124 [GRCh38]
Chr1:220269465..220269466 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.390+14A>G single nucleotide variant not provided [RCV002863560] Chr1:220096240 [GRCh38]
Chr1:220269582 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2020C>G (p.His674Asp) single nucleotide variant Inborn genetic diseases [RCV002774585] Chr1:220136882 [GRCh38]
Chr1:220310224 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.998C>T (p.Ala333Val) single nucleotide variant not provided [RCV002615777] Chr1:220103494 [GRCh38]
Chr1:220276836 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2050-11T>C single nucleotide variant not provided [RCV003033443] Chr1:220137907 [GRCh38]
Chr1:220311249 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.3017C>T (p.Ala1006Val) single nucleotide variant not provided [RCV002613872] Chr1:220147613 [GRCh38]
Chr1:220320955 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.951-7A>G single nucleotide variant not provided [RCV002775718] Chr1:220103440 [GRCh38]
Chr1:220276782 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1207G>T (p.Gly403Cys) single nucleotide variant Inborn genetic diseases [RCV002817659] Chr1:220106031 [GRCh38]
Chr1:220279373 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2776A>G (p.Ser926Gly) single nucleotide variant not provided [RCV002838737] Chr1:220145533 [GRCh38]
Chr1:220318875 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.846G>C (p.Leu282Phe) single nucleotide variant Inborn genetic diseases [RCV002753233] Chr1:220102591 [GRCh38]
Chr1:220275933 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1293A>C (p.Gln431His) single nucleotide variant Inborn genetic diseases [RCV002859966] Chr1:220107117 [GRCh38]
Chr1:220280459 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2313C>T (p.Thr771=) single nucleotide variant not provided [RCV002775889] Chr1:220140188 [GRCh38]
Chr1:220313530 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.799C>T (p.Arg267Cys) single nucleotide variant not provided [RCV002686248] Chr1:220102544 [GRCh38]
Chr1:220275886 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.490G>A (p.Val164Ile) single nucleotide variant Inborn genetic diseases [RCV002859011] Chr1:220100589 [GRCh38]
Chr1:220273931 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1380G>A (p.Val460=) single nucleotide variant not provided [RCV002862219] Chr1:220110838 [GRCh38]
Chr1:220284180 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1404G>A (p.Arg468=) single nucleotide variant not provided [RCV003033437] Chr1:220110862 [GRCh38]
Chr1:220284204 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1973T>G (p.Leu658Arg) single nucleotide variant not provided [RCV003016430] Chr1:220136835 [GRCh38]
Chr1:220310177 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1309G>A (p.Glu437Lys) single nucleotide variant Inborn genetic diseases [RCV002907257] Chr1:220107133 [GRCh38]
Chr1:220280475 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.74C>T (p.Pro25Leu) single nucleotide variant not provided [RCV002462449] Chr1:220094290 [GRCh38]
Chr1:220267632 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_018060.4(IARS2):c.1635C>A (p.Ile545=) single nucleotide variant not provided [RCV003033711] Chr1:220114469 [GRCh38]
Chr1:220287811 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.575T>C (p.Ile192Thr) single nucleotide variant Inborn genetic diseases [RCV002618432]|not provided [RCV002626046] Chr1:220102153 [GRCh38]
Chr1:220275495 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2556T>A (p.Ile852=) single nucleotide variant not provided [RCV002726727] Chr1:220141944 [GRCh38]
Chr1:220315286 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.85T>C (p.Cys29Arg) single nucleotide variant not provided [RCV002880552] Chr1:220094301 [GRCh38]
Chr1:220267643 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1640+18dup duplication not provided [RCV002592698] Chr1:220114488..220114489 [GRCh38]
Chr1:220287830..220287831 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.920A>G (p.Asn307Ser) single nucleotide variant not provided [RCV002740248] Chr1:220102747 [GRCh38]
Chr1:220276089 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2980A>G (p.Thr994Ala) single nucleotide variant not provided [RCV002914087] Chr1:220147576 [GRCh38]
Chr1:220320918 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.435C>T (p.Ser145=) single nucleotide variant not provided [RCV002622658] Chr1:220100534 [GRCh38]
Chr1:220273876 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2102C>T (p.Ala701Val) single nucleotide variant not provided [RCV003002824] Chr1:220137970 [GRCh38]
Chr1:220311312 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1067-18G>A single nucleotide variant not provided [RCV003002856] Chr1:220105873 [GRCh38]
Chr1:220279215 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.550+13T>C single nucleotide variant not provided [RCV002590436] Chr1:220100662 [GRCh38]
Chr1:220274004 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1509T>C (p.Pro503=) single nucleotide variant not provided [RCV002735076] Chr1:220114343 [GRCh38]
Chr1:220287685 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.950+3G>A single nucleotide variant not provided [RCV002636444] Chr1:220102780 [GRCh38]
Chr1:220276122 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2191C>T (p.Arg731Cys) single nucleotide variant not provided [RCV002639073] Chr1:220139023 [GRCh38]
Chr1:220312365 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2307+9A>G single nucleotide variant not provided [RCV002591724] Chr1:220139148 [GRCh38]
Chr1:220312490 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.275G>A (p.Gly92Glu) single nucleotide variant not provided [RCV002823900] Chr1:220096111 [GRCh38]
Chr1:220269453 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.858A>T (p.Ile286=) single nucleotide variant not provided [RCV003018451] Chr1:220102603 [GRCh38]
Chr1:220275945 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1799G>C (p.Trp600Ser) single nucleotide variant not provided [RCV002736446] Chr1:220126805 [GRCh38]
Chr1:220300147 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1713A>G (p.Glu571=) single nucleotide variant not provided [RCV002867189] Chr1:220125309 [GRCh38]
Chr1:220298651 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1708C>G (p.Pro570Ala) single nucleotide variant not provided [RCV002690578] Chr1:220125304 [GRCh38]
Chr1:220298646 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2964C>T (p.Pro988=) single nucleotide variant not provided [RCV002797244] Chr1:220147560 [GRCh38]
Chr1:220320902 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.750-7C>T single nucleotide variant not provided [RCV003017940] Chr1:220102488 [GRCh38]
Chr1:220275830 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.950+13T>C single nucleotide variant not provided [RCV002795361] Chr1:220102790 [GRCh38]
Chr1:220276132 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2902G>A (p.Asp968Asn) single nucleotide variant Inborn genetic diseases [RCV002911798] Chr1:220147498 [GRCh38]
Chr1:220320840 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.157C>T (p.Pro53Ser) single nucleotide variant not provided [RCV002622022] Chr1:220094373 [GRCh38]
Chr1:220267715 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1378G>C (p.Val460Leu) single nucleotide variant Inborn genetic diseases [RCV002798903] Chr1:220110836 [GRCh38]
Chr1:220284178 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.550+20G>C single nucleotide variant not provided [RCV002695549] Chr1:220100669 [GRCh38]
Chr1:220274011 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2175+4A>C single nucleotide variant not provided [RCV003035756] Chr1:220138047 [GRCh38]
Chr1:220311389 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2070G>A (p.Pro690=) single nucleotide variant not provided [RCV003080353] Chr1:220137938 [GRCh38]
Chr1:220311280 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.959T>C (p.Val320Ala) single nucleotide variant Inborn genetic diseases [RCV002619345]|not provided [RCV002619344] Chr1:220103455 [GRCh38]
Chr1:220276797 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1790T>C (p.Leu597Ser) single nucleotide variant not provided [RCV003018223] Chr1:220126796 [GRCh38]
Chr1:220300138 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1975G>C (p.Gly659Arg) single nucleotide variant not provided [RCV002999948] Chr1:220136837 [GRCh38]
Chr1:220310179 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2040T>C (p.Asn680=) single nucleotide variant not provided [RCV002846289] Chr1:220136902 [GRCh38]
Chr1:220310244 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1739C>G (p.Ser580Cys) single nucleotide variant not provided [RCV002706523] Chr1:220125335 [GRCh38]
Chr1:220298677 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1886G>C (p.Gly629Ala) single nucleotide variant not provided [RCV002662521] Chr1:220134450 [GRCh38]
Chr1:220307792 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2416C>T (p.Leu806Phe) single nucleotide variant Inborn genetic diseases [RCV002692672] Chr1:220141804 [GRCh38]
Chr1:220315146 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.900A>G (p.Gln300=) single nucleotide variant not provided [RCV002791334] Chr1:220102727 [GRCh38]
Chr1:220276069 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2050-18T>C single nucleotide variant not provided [RCV002851389] Chr1:220137900 [GRCh38]
Chr1:220311242 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.784C>T (p.Pro262Ser) single nucleotide variant not provided [RCV002573778] Chr1:220102529 [GRCh38]
Chr1:220275871 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.550+6T>A single nucleotide variant Inborn genetic diseases [RCV002713702] Chr1:220100655 [GRCh38]
Chr1:220273997 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.570A>C (p.Ala190=) single nucleotide variant not provided [RCV002959071] Chr1:220102148 [GRCh38]
Chr1:220275490 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1457C>T (p.Thr486Met) single nucleotide variant not provided [RCV002790562] Chr1:220110915 [GRCh38]
Chr1:220284257 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2554A>G (p.Ile852Val) single nucleotide variant not provided [RCV003042165] Chr1:220141942 [GRCh38]
Chr1:220315284 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1237-4A>G single nucleotide variant not provided [RCV002918734] Chr1:220107057 [GRCh38]
Chr1:220280399 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.268-9_268-8del deletion not provided [RCV002625985] Chr1:220096085..220096086 [GRCh38]
Chr1:220269427..220269428 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2175+18T>C single nucleotide variant not provided [RCV002805764] Chr1:220138061 [GRCh38]
Chr1:220311403 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2865G>C (p.Glu955Asp) single nucleotide variant not provided [RCV002575703] Chr1:220145622 [GRCh38]
Chr1:220318964 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2237C>G (p.Ser746Cys) single nucleotide variant not provided [RCV002643622] Chr1:220139069 [GRCh38]
Chr1:220312411 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1753C>T (p.Pro585Ser) single nucleotide variant not provided [RCV002931843] Chr1:220126759 [GRCh38]
Chr1:220300101 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.221A>G (p.Lys74Arg) single nucleotide variant Inborn genetic diseases [RCV002611593]|not provided [RCV002623523] Chr1:220094437 [GRCh38]
Chr1:220267779 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.32G>T (p.Gly11Val) single nucleotide variant not provided [RCV003024206] Chr1:220094248 [GRCh38]
Chr1:220267590 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1641-12C>T single nucleotide variant not provided [RCV002572652] Chr1:220125225 [GRCh38]
Chr1:220298567 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1328-16G>A single nucleotide variant not provided [RCV002625824] Chr1:220110770 [GRCh38]
Chr1:220284112 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1480-16T>C single nucleotide variant not provided [RCV002711514] Chr1:220114298 [GRCh38]
Chr1:220287640 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2050-15T>C single nucleotide variant not provided [RCV002572524] Chr1:220137903 [GRCh38]
Chr1:220311245 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.390G>A (p.Lys130=) single nucleotide variant not provided [RCV002852743] Chr1:220096226 [GRCh38]
Chr1:220269568 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1641-9C>G single nucleotide variant not provided [RCV003025759] Chr1:220125228 [GRCh38]
Chr1:220298570 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1458G>A (p.Thr486=) single nucleotide variant not provided [RCV002627039] Chr1:220110916 [GRCh38]
Chr1:220284258 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1431C>T (p.Ala477=) single nucleotide variant not provided [RCV002574125] Chr1:220110889 [GRCh38]
Chr1:220284231 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.859+11T>C single nucleotide variant not provided [RCV003059182] Chr1:220102615 [GRCh38]
Chr1:220275957 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2897-18T>G single nucleotide variant not provided [RCV002741296] Chr1:220147475 [GRCh38]
Chr1:220320817 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1947-12T>C single nucleotide variant not provided [RCV002740831] Chr1:220136797 [GRCh38]
Chr1:220310139 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1335G>A (p.Lys445=) single nucleotide variant not provided [RCV002575267] Chr1:220110793 [GRCh38]
Chr1:220284135 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2578C>T (p.Arg860Cys) single nucleotide variant not provided [RCV002928287] Chr1:220142961 [GRCh38]
Chr1:220316303 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2418C>G (p.Leu806=) single nucleotide variant not provided [RCV002663350] Chr1:220141806 [GRCh38]
Chr1:220315148 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2163T>C (p.Asp721=) single nucleotide variant not provided [RCV002741749] Chr1:220138031 [GRCh38]
Chr1:220311373 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1691T>C (p.Ile564Thr) single nucleotide variant not provided [RCV002700603] Chr1:220125287 [GRCh38]
Chr1:220298629 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1780C>G (p.Gln594Glu) single nucleotide variant not provided [RCV002625608] Chr1:220126786 [GRCh38]
Chr1:220300128 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2201T>C (p.Leu734Ser) single nucleotide variant not provided [RCV002626384] Chr1:220139033 [GRCh38]
Chr1:220312375 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.686A>G (p.Gln229Arg) single nucleotide variant not provided [RCV002801586] Chr1:220102264 [GRCh38]
Chr1:220275606 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.991G>A (p.Val331Ile) single nucleotide variant Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome [RCV003134498]|Inborn genetic diseases [RCV003167766]|not provided [RCV002790057] Chr1:220103487 [GRCh38]
Chr1:220276829 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_018060.4(IARS2):c.142G>C (p.Ala48Pro) single nucleotide variant not provided [RCV002825690] Chr1:220094358 [GRCh38]
Chr1:220267700 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2897-16A>G single nucleotide variant not provided [RCV002675925] Chr1:220147477 [GRCh38]
Chr1:220320819 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.268-12_268-8del deletion not provided [RCV002581408] Chr1:220096085..220096089 [GRCh38]
Chr1:220269427..220269431 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1392G>A (p.Pro464=) single nucleotide variant not provided [RCV002576801] Chr1:220110850 [GRCh38]
Chr1:220284192 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.372T>A (p.Val124=) single nucleotide variant not provided [RCV002806799] Chr1:220096208 [GRCh38]
Chr1:220269550 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2751+14T>C single nucleotide variant not provided [RCV003027691] Chr1:220143148 [GRCh38]
Chr1:220316490 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.551-17T>C single nucleotide variant not provided [RCV002676469] Chr1:220102112 [GRCh38]
Chr1:220275454 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.33C>T (p.Gly11=) single nucleotide variant not provided [RCV003087673] Chr1:220094249 [GRCh38]
Chr1:220267591 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.699+20_699+21del microsatellite not provided [RCV002650453] Chr1:220102294..220102295 [GRCh38]
Chr1:220275636..220275637 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2896+6_2896+8del microsatellite not provided [RCV002599042] Chr1:220145656..220145658 [GRCh38]
Chr1:220318998..220319000 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1057A>G (p.Thr353Ala) single nucleotide variant not provided [RCV002630394] Chr1:220103553 [GRCh38]
Chr1:220276895 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1088C>T (p.Thr363Ile) single nucleotide variant not provided [RCV002806113] Chr1:220105912 [GRCh38]
Chr1:220279254 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.101A>G (p.Gln34Arg) single nucleotide variant not provided [RCV002857174] Chr1:220094317 [GRCh38]
Chr1:220267659 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1253A>C (p.Glu418Ala) single nucleotide variant not provided [RCV003028413] Chr1:220107077 [GRCh38]
Chr1:220280419 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2752-9T>C single nucleotide variant not provided [RCV003046046] Chr1:220145500 [GRCh38]
Chr1:220318842 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.550+11T>G single nucleotide variant not provided [RCV002649947] Chr1:220100660 [GRCh38]
Chr1:220274002 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2555T>C (p.Ile852Thr) single nucleotide variant not provided [RCV002628040] Chr1:220141943 [GRCh38]
Chr1:220315285 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1328-6_1328-5dup duplication not provided [RCV002600943] Chr1:220110770..220110771 [GRCh38]
Chr1:220284112..220284113 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.2831A>G (p.Gln944Arg) single nucleotide variant Inborn genetic diseases [RCV002748529] Chr1:220145588 [GRCh38]
Chr1:220318930 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2269C>G (p.Gln757Glu) single nucleotide variant not provided [RCV003028606] Chr1:220139101 [GRCh38]
Chr1:220312443 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2752-11C>G single nucleotide variant not provided [RCV002646564] Chr1:220145498 [GRCh38]
Chr1:220318840 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1641-14C>T single nucleotide variant not provided [RCV002810987] Chr1:220125223 [GRCh38]
Chr1:220298565 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2442C>T (p.Pro814=) single nucleotide variant not provided [RCV002576839] Chr1:220141830 [GRCh38]
Chr1:220315172 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2840G>A (p.Arg947Gln) single nucleotide variant not provided [RCV002578931] Chr1:220145597 [GRCh38]
Chr1:220318939 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1771G>A (p.Val591Met) single nucleotide variant not provided [RCV002630495] Chr1:220126777 [GRCh38]
Chr1:220300119 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.677C>A (p.Thr226Asn) single nucleotide variant not provided [RCV003008988] Chr1:220102255 [GRCh38]
Chr1:220275597 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2251G>A (p.Asp751Asn) single nucleotide variant not provided [RCV002715462] Chr1:220139083 [GRCh38]
Chr1:220312425 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1947-20T>A single nucleotide variant not provided [RCV003031173] Chr1:220136789 [GRCh38]
Chr1:220310131 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.746C>T (p.Ser249Phe) single nucleotide variant not provided [RCV003066925] Chr1:220102409 [GRCh38]
Chr1:220275751 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.597T>C (p.Phe199=) single nucleotide variant not provided [RCV002583010] Chr1:220102175 [GRCh38]
Chr1:220275517 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.615G>T (p.Met205Ile) single nucleotide variant not provided [RCV002676839] Chr1:220102193 [GRCh38]
Chr1:220275535 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1707C>T (p.Pro569=) single nucleotide variant not provided [RCV002603418] Chr1:220125303 [GRCh38]
Chr1:220298645 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1904C>T (p.Ser635Phe) single nucleotide variant not provided [RCV002653643] Chr1:220134468 [GRCh38]
Chr1:220307810 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2792A>G (p.Asn931Ser) single nucleotide variant not provided [RCV002814523] Chr1:220145549 [GRCh38]
Chr1:220318891 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2862C>A (p.Ile954=) single nucleotide variant not provided [RCV003049944] Chr1:220145619 [GRCh38]
Chr1:220318961 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1640+19T>G single nucleotide variant not provided [RCV002604021] Chr1:220114493 [GRCh38]
Chr1:220287835 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1314G>A (p.Glu438=) single nucleotide variant not provided [RCV002815125] Chr1:220107138 [GRCh38]
Chr1:220280480 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2005_2049+21dup duplication Inborn genetic diseases [RCV002722771] Chr1:220136865..220136866 [GRCh38]
Chr1:220310207..220310208 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.713G>C (p.Arg238Pro) single nucleotide variant Inborn genetic diseases [RCV002677800] Chr1:220102376 [GRCh38]
Chr1:220275718 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.551-14C>T single nucleotide variant not provided [RCV002814302] Chr1:220102115 [GRCh38]
Chr1:220275457 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1338G>A (p.Met446Ile) single nucleotide variant not provided [RCV002583126] Chr1:220110796 [GRCh38]
Chr1:220284138 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2775C>T (p.Ser925=) single nucleotide variant not provided [RCV002606762] Chr1:220145532 [GRCh38]
Chr1:220318874 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2579G>A (p.Arg860His) single nucleotide variant not provided [RCV002607917] Chr1:220142962 [GRCh38]
Chr1:220316304 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.692A>G (p.Tyr231Cys) single nucleotide variant not provided [RCV002610731] Chr1:220102270 [GRCh38]
Chr1:220275612 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.314_318del (p.Val105fs) deletion not provided [RCV003069875] Chr1:220096146..220096150 [GRCh38]
Chr1:220269488..220269492 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.1328-15T>G single nucleotide variant not provided [RCV002589000] Chr1:220110771 [GRCh38]
Chr1:220284113 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.788A>G (p.Glu263Gly) single nucleotide variant not provided [RCV002722017] Chr1:220102533 [GRCh38]
Chr1:220275875 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1641-13C>T single nucleotide variant not provided [RCV002587153] Chr1:220125224 [GRCh38]
Chr1:220298566 [GRCh37]
Chr1:1q41
benign
NM_018060.4(IARS2):c.1641-10C>G single nucleotide variant not provided [RCV002658165] Chr1:220125227 [GRCh38]
Chr1:220298569 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.1999A>G (p.Lys667Glu) single nucleotide variant not provided [RCV003050365] Chr1:220136861 [GRCh38]
Chr1:220310203 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.537A>C (p.Glu179Asp) single nucleotide variant not provided [RCV002584325] Chr1:220100636 [GRCh38]
Chr1:220273978 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2619C>T (p.Pro873=) single nucleotide variant not provided [RCV002587559] Chr1:220143002 [GRCh38]
Chr1:220316344 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.225G>A (p.Leu75=) single nucleotide variant not provided [RCV003049603] Chr1:220094441 [GRCh38]
Chr1:220267783 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.153C>G (p.His51Gln) single nucleotide variant Inborn genetic diseases [RCV003220171] Chr1:220094369 [GRCh38]
Chr1:220267711 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2186C>T (p.Thr729Ile) single nucleotide variant Inborn genetic diseases [RCV003304461] Chr1:220139018 [GRCh38]
Chr1:220312360 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.986T>C (p.Leu329Pro) single nucleotide variant not provided [RCV003227104] Chr1:220103482 [GRCh38]
Chr1:220276824 [GRCh37]
Chr1:1q41
likely pathogenic
NM_018060.4(IARS2):c.1641-3T>C single nucleotide variant not provided [RCV003326772] Chr1:220125234 [GRCh38]
Chr1:220298576 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.807A>G (p.Ile269Met) single nucleotide variant Inborn genetic diseases [RCV003362409] Chr1:220102552 [GRCh38]
Chr1:220275894 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2150A>G (p.Asn717Ser) single nucleotide variant Inborn genetic diseases [RCV003370662] Chr1:220138018 [GRCh38]
Chr1:220311360 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2897-20C>G single nucleotide variant not provided [RCV003571664] Chr1:220147473 [GRCh38]
Chr1:220320815 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 copy number loss not provided [RCV003484033] Chr1:214853277..222111742 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.454G>A (p.Gly152Ser) single nucleotide variant not provided [RCV003414779] Chr1:220100553 [GRCh38]
Chr1:220273895 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.603T>C (p.Arg201=) single nucleotide variant not provided [RCV003414780] Chr1:220102181 [GRCh38]
Chr1:220275523 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.1214C>T (p.Ala405Val) single nucleotide variant not provided [RCV003414781] Chr1:220106038 [GRCh38]
Chr1:220279380 [GRCh37]
Chr1:1q41
uncertain significance
NM_018060.4(IARS2):c.2308-16T>C single nucleotide variant not provided [RCV003660271] Chr1:220140167 [GRCh38]
Chr1:220313509 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2561-7T>C single nucleotide variant not provided [RCV003715913] Chr1:220142937 [GRCh38]
Chr1:220316279 [GRCh37]
Chr1:1q41
likely benign
NM_018060.4(IARS2):c.2775del (p.Ser926fs) deletion not provided [RCV003715725] Chr1:220145531 [GRCh38]
Chr1:220318873 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.419del (p.His140fs) deletion not provided [RCV003686754] Chr1:220100518 [GRCh38]
Chr1:220273860 [GRCh37]
Chr1:1q41
pathogenic
NM_018060.4(IARS2):c.1378G>T (p.Val460Leu) single nucleotide variant not provided [RCV003662825] Chr1:220110836 [GRCh38]
Chr1:220284178 [GRCh37]
Chr1:1q41
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:542
Count of miRNA genes:364
Interacting mature miRNAs:394
Transcripts:ENST00000302637, ENST00000366922, ENST00000467924, ENST00000488777, ENST00000490891
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
SHGC-132443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,087 - 220,321,378UniSTSGRCh37
Build 361218,387,710 - 218,388,001RGDNCBI36
Celera1193,540,296 - 193,540,587RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,508 - 190,995,799UniSTS
TNG Radiation Hybrid Map1109325.0UniSTS
SHGC-31919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,235 - 220,321,375UniSTSGRCh37
Build 361218,387,858 - 218,387,998RGDNCBI36
Celera1193,540,444 - 193,540,584RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,656 - 190,995,796UniSTS
Stanford-G3 RH Map18805.0UniSTS
GeneMap99-GB4 RH Map1705.93UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
Whitehead-RH Map1849.0UniSTS
NCBI RH Map11926.3UniSTS
GeneMap99-G3 RH Map18761.0UniSTS
SHGC-23988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,272 - 220,321,375UniSTSGRCh37
Build 361218,387,895 - 218,387,998RGDNCBI36
Celera1193,540,481 - 193,540,584RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,693 - 190,995,796UniSTS
TNG Radiation Hybrid Map1109284.0UniSTS
Stanford-G3 RH Map18790.0UniSTS
NCBI RH Map11899.1UniSTS
GeneMap99-G3 RH Map18746.0UniSTS
RH35983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,321,105 - 220,321,219UniSTSGRCh37
Build 361218,387,728 - 218,387,842RGDNCBI36
Celera1193,540,314 - 193,540,428RGD
Cytogenetic Map1q41UniSTS
HuRef1190,995,526 - 190,995,640UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
RH69283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q41UniSTS
HuRef1190,996,087 - 190,996,236UniSTS
GeneMap99-GB4 RH Map1707.33UniSTS
NCBI RH Map11905.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2436 2383 1707 611 1474 452 4357 2082 3432 407 1458 1610 175 1 1204 2788 6 2
Low 3 608 19 13 477 13 115 302 12 1 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC103590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY267462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY952883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI459732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000366922   ⟹   ENSP00000355889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,094,132 - 220,148,041 (+)Ensembl
RefSeq Acc Id: ENST00000467924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,140,181 - 220,143,344 (+)Ensembl
RefSeq Acc Id: ENST00000488777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,137,642 - 220,140,218 (+)Ensembl
RefSeq Acc Id: ENST00000490891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1220,114,451 - 220,134,846 (+)Ensembl
RefSeq Acc Id: NM_018060   ⟹   NP_060530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,094,132 - 220,148,041 (+)NCBI
GRCh371220,267,455 - 220,321,383 (+)RGD
Build 361218,334,078 - 218,388,006 (+)NCBI Archive
Celera1193,486,662 - 193,540,592 (+)RGD
HuRef1190,941,806 - 190,995,804 (+)ENTREZGENE
CHM1_11221,540,260 - 221,593,871 (+)NCBI
T2T-CHM13v2.01219,333,406 - 219,387,315 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060530   ⟸   NM_018060
- Peptide Label: precursor
- UniProtKB: Q9H9Q8 (UniProtKB/Swiss-Prot),   Q96D91 (UniProtKB/Swiss-Prot),   Q86WU9 (UniProtKB/Swiss-Prot),   Q7L439 (UniProtKB/Swiss-Prot),   Q6PI85 (UniProtKB/Swiss-Prot),   Q1M2P9 (UniProtKB/Swiss-Prot),   B2RPG8 (UniProtKB/Swiss-Prot),   Q9NW42 (UniProtKB/Swiss-Prot),   Q9NSE4 (UniProtKB/Swiss-Prot),   A8K5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000355889   ⟸   ENST00000366922
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSE4-F1-model_v2 AlphaFold Q9NSE4 1-1012 view protein structure

Promoters
RGD ID:6785749
Promoter ID:HG_KWN:7389
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366922
Position:
Human AssemblyChrPosition (strand)Source
Build 361218,333,666 - 218,334,297 (+)MPROMDB
RGD ID:6859024
Promoter ID:EPDNEW_H2676
Type:initiation region
Name:IARS2_1
Description:isoleucyl-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
GRCh381220,094,132 - 220,094,192EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29685 AgrOrtholog
COSMIC IARS2 COSMIC
Ensembl Genes ENSG00000067704 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366922 ENTREZGENE
  ENST00000366922.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.730.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.620 UniProtKB/Swiss-Prot
  3.90.740.10 UniProtKB/Swiss-Prot
  HUPs UniProtKB/TrEMBL
  Ile-tRNA synthetase CP2 domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain UniProtKB/TrEMBL
GTEx ENSG00000067704 GTEx
HGNC ID HGNC:29685 ENTREZGENE
Human Proteome Map IARS2 Human Proteome Map
InterPro aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_Ia UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anticodon_Ile_BEm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ile-tRNA-ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ile-tRNA-ligase_type1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M/V/L/I-tRNA-synth_anticd-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNAsynth_Ia_anticodon-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Val/Leu/Ile-tRNA-synth_edit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FPG/IleRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55699 UniProtKB/Swiss-Prot
NCBI Gene 55699 ENTREZGENE
OMIM 612801 OMIM
PANTHER ISOLEUCINE--TRNA LIGASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLEUCYL-TRNA SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Anticodon_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-FPG_IleRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671670 PharmGKB
PRINTS TRNASYNTHILE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases UniProtKB/TrEMBL
  Nucleotidylyl transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47323 UniProtKB/Swiss-Prot
  SSF50677 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5W7 ENTREZGENE, UniProtKB/TrEMBL
  B2RPG8 ENTREZGENE
  L8E8E9_HUMAN UniProtKB/TrEMBL
  L8EA13_HUMAN UniProtKB/TrEMBL
  Q1M2P9 ENTREZGENE
  Q6PI85 ENTREZGENE
  Q7L439 ENTREZGENE
  Q86WU9 ENTREZGENE
  Q96D91 ENTREZGENE
  Q9H9Q8 ENTREZGENE
  Q9NSE4 ENTREZGENE
  Q9NW42 ENTREZGENE
  SYIM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RPG8 UniProtKB/Swiss-Prot
  Q1M2P9 UniProtKB/Swiss-Prot
  Q6PI85 UniProtKB/Swiss-Prot
  Q7L439 UniProtKB/Swiss-Prot
  Q86WU9 UniProtKB/Swiss-Prot
  Q96D91 UniProtKB/Swiss-Prot
  Q9H9Q8 UniProtKB/Swiss-Prot
  Q9NW42 UniProtKB/Swiss-Prot