POLR3A (RNA polymerase III subunit A) - Rat Genome Database

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Gene: POLR3A (RNA polymerase III subunit A) Homo sapiens
Analyze
Symbol: POLR3A
Name: RNA polymerase III subunit A
RGD ID: 1351863
HGNC Page HGNC:30074
Description: Predicted to enable several functions, including DNA binding activity; chromatin binding activity; and metal ion binding activity. Predicted to contribute to DNA-directed 5'-3' RNA polymerase activity. Involved in innate immune response and positive regulation of interferon-beta production. Located in nucleoplasm. Part of RNA polymerase III complex. Implicated in hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism and progeria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADDH; C160; DNA-directed RNA polymerase III largest subunit; DNA-directed RNA polymerase III subunit A; DNA-directed RNA polymerase III subunit RPC1; HLD7; hRPC155; polymerase (RNA) III (DNA directed) polypeptide A, 155kDa; polymerase (RNA) III subunit A; RNA polymerase III 155 kDa subunit; RNA polymerase III subunit C1; RNA polymerase III subunit C160; RNA polymerase III subunit RPC155-D; RPC1; RPC155; WDRTS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381077,975,149 - 78,029,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1077,953,148 - 78,029,522 (-)EnsemblGRCh38hg38GRCh38
GRCh371079,734,907 - 79,789,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361079,405,900 - 79,459,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 341079,405,911 - 79,459,265NCBI
Celera1073,021,499 - 73,075,893 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1073,729,855 - 73,784,226 (-)NCBIHuRef
CHM1_11080,017,697 - 80,072,040 (-)NCBICHM1_1
T2T-CHM13v2.01078,844,187 - 78,898,555 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal basal ganglia morphology  (IAGP)
Abnormal corpus striatum morphology  (IAGP)
Abnormality of ocular smooth pursuit  (IAGP)
Absence of subcutaneous fat  (IAGP)
Absent earlobe  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Acanthosis nigricans  (IAGP)
Action tremor  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alopecia of scalp  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Ataxia  (IAGP)
Atlantoaxial abnormality  (IAGP)
Autonomic bladder dysfunction  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad eyebrow  (IAGP)
Broad forehead  (IAGP)
Caesarian section  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cervical vertebral dysplasia  (IAGP)
Chiari malformation  (IAGP)
Chiari type I malformation  (IAGP)
Childhood onset  (IAGP)
Clinodactyly  (IAGP)
Clumsiness  (IAGP)
CNS hypomyelination  (IAGP)
Confusion  (IAGP)
Congenital generalized lipodystrophy  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Congenital malformation of the left heart  (IAGP)
Congenital onset  (IAGP)
Convex nasal ridge  (IAGP)
Corneal opacity  (IAGP)
Cranial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in early adulthood  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Deeply set eye  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Depressed nasal bridge  (IAGP)
Dermal translucency  (IAGP)
Developmental regression  (IAGP)
Dilatation of renal calices  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Drooling  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dysplastic pulmonary valve  (IAGP)
Dystonia  (IAGP)
Ectropion  (IAGP)
Entropion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Frontal bossing  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Gynecomastia  (IAGP)
Hearing abnormality  (IAGP)
Hepatic steatosis  (IAGP)
High myoinositol in brain by MRS  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hyperthyroidism  (IAGP)
Hypertonia  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoplastic facial bones  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic vertebral bodies  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Impaired distal proprioception  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Increased circulating prolactin concentration  (IAGP)
Increased serum estradiol  (IAGP)
Increased serum testosterone level  (IAGP)
Increased subcutaneous truncal adipose tissue  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular sclerotic endplates  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Lagopthalmos  (IAGP)
Large beaked nose  (IAGP)
Large hands  (IAGP)
Laryngomalacia  (IAGP)
Leukodystrophy  (IAGP)
Limb hypertonia  (IAGP)
Lipoatrophy  (IAGP)
Long fingers  (IAGP)
Long foot  (IAGP)
Long neck  (IAGP)
Long penis  (IAGP)
Long philtrum  (IAGP)
Long toe  (IAGP)
Loss of ambulation  (IAGP)
Loss of facial adipose tissue  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal ridge  (IAGP)
Narrow nose  (IAGP)
Narrow palpebral fissure  (IAGP)
Natal tooth  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Optic atrophy  (IAGP)
Optic disc hypoplasia  (IAGP)
Osteopenia  (IAGP)
Parietal bossing  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Pneumonia  (IAGP)
Pointed chin  (IAGP)
Polymicrogyria  (IAGP)
Positive Romberg sign  (IAGP)
Posteriorly rotated ears  (IAGP)
Postural tremor  (IAGP)
Premature loss of teeth  (IAGP)
Premature skin wrinkling  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive  (IAGP)
Prominent forehead  (IAGP)
Prominent scalp veins  (IAGP)
Prominent supraorbital ridges  (IAGP)
Proptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent skin infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Relative macrocephaly  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Seizure  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Short femur  (IAGP)
Short humerus  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Slender build  (IAGP)
Slender long bone  (IAGP)
Small earlobe  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Smooth philtrum  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse scalp hair  (IAGP)
Spastic dysarthria  (IAGP)
Spasticity  (IAGP)
Submucous cleft soft palate  (IAGP)
Sudanophilic leukodystrophy  (IAGP)
Synophrys  (IAGP)
Synovitis  (IAGP)
Talipes equinovarus  (IAGP)
Thickened calvaria  (IAGP)
Thin long bone diaphyses  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Truncal ataxia  (IAGP)
Type II diabetes mellitus  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vertical supranuclear gaze palsy  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal ridge  (IAGP)
Wide penis  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription. Dumay-Odelot H, etal., Cell Cycle. 2010 Sep 15;9(18):3687-99. Epub 2010 Sep 1.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Characterization of human RNA polymerase III identifies orthologues for Saccharomyces cerevisiae RNA polymerase III subunits. Hu P, etal., Mol Cell Biol. 2002 Nov;22(22):8044-55.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1403646   PMID:9331371   PMID:11416169   PMID:12384934   PMID:12477932   PMID:16055720   PMID:16344560   PMID:17283126   PMID:17643375   PMID:18029348   PMID:18187620   PMID:19176527  
PMID:19609254   PMID:19615732   PMID:19913121   PMID:19946888   PMID:20211142   PMID:20301317   PMID:20379614   PMID:20628086   PMID:21855841   PMID:21873635   PMID:22036171   PMID:22189167  
PMID:22855961   PMID:22939629   PMID:23355746   PMID:23602572   PMID:23643445   PMID:24107381   PMID:24337577   PMID:24501781   PMID:24912190   PMID:24981860   PMID:25339210   PMID:25921289  
PMID:26011300   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27029625   PMID:27068803   PMID:27506977   PMID:27612211   PMID:27780869   PMID:27911719   PMID:28330616  
PMID:28407788   PMID:28459997   PMID:28488757   PMID:28514442   PMID:28561026   PMID:28695742   PMID:28700943   PMID:28783042   PMID:28846112   PMID:29229926   PMID:29467282   PMID:29507755  
PMID:29728610   PMID:29778605   PMID:29844126   PMID:29955894   PMID:29970461   PMID:30033366   PMID:30115567   PMID:30323018   PMID:30414627   PMID:30450527   PMID:30554943   PMID:30690919  
PMID:30833792   PMID:30898877   PMID:30948266   PMID:31091453   PMID:31438894   PMID:31637490   PMID:31940116   PMID:32066962   PMID:32198086   PMID:32416067   PMID:32483275   PMID:32513696  
PMID:32573057   PMID:32600288   PMID:32877691   PMID:33005949   PMID:33148458   PMID:33226137   PMID:33491183   PMID:33559318   PMID:33626331   PMID:33711283   PMID:33961781   PMID:34079125  
PMID:34296356   PMID:34316702   PMID:34373451   PMID:34773388   PMID:35271311   PMID:35509820   PMID:35776542   PMID:35831314  


Genomics

Comparative Map Data
POLR3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381077,975,149 - 78,029,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1077,953,148 - 78,029,522 (-)EnsemblGRCh38hg38GRCh38
GRCh371079,734,907 - 79,789,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361079,405,900 - 79,459,265 (-)NCBINCBI36Build 36hg18NCBI36
Build 341079,405,911 - 79,459,265NCBI
Celera1073,021,499 - 73,075,893 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1073,729,855 - 73,784,226 (-)NCBIHuRef
CHM1_11080,017,697 - 80,072,040 (-)NCBICHM1_1
T2T-CHM13v2.01078,844,187 - 78,898,555 (-)NCBIT2T-CHM13v2.0
Polr3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391424,498,762 - 24,537,126 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1424,498,764 - 24,537,126 (-)EnsemblGRCm39 Ensembl
GRCm381424,448,694 - 24,487,070 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1424,448,696 - 24,487,058 (-)EnsemblGRCm38mm10GRCm38
MGSCv371425,267,916 - 25,306,268 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361423,281,159 - 23,319,511 (-)NCBIMGSCv36mm8
Celera1420,823,678 - 20,861,770 (-)NCBICelera
Cytogenetic Map14A3NCBI
Polr3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21649,178 - 88,178 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1649,521 - 88,172 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.016717,821 - 756,002 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl16716,683 - 755,990 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.016712,735 - 750,910 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4164,090 - 42,301 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1164,027 - 40,227 (-)NCBI
Celera1636,720 - 74,901 (-)NCBICelera
Cytogenetic Map16p16NCBI
Polr3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543714,446,024 - 14,483,336 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543714,446,059 - 14,483,336 (+)NCBIChiLan1.0ChiLan1.0
POLR3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11077,157,976 - 77,213,019 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01074,496,121 - 74,550,054 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
POLR3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1427,834,197 - 27,883,065 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl427,835,612 - 27,883,436 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha427,959,412 - 28,008,179 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0428,135,868 - 28,184,686 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl428,135,868 - 28,184,984 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1428,010,348 - 28,059,559 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0428,209,234 - 28,258,410 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0428,562,062 - 28,611,378 (-)NCBIUU_Cfam_GSD_1.0
Polr3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721353,078,129 - 53,121,757 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365211,570,857 - 1,614,409 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365211,570,863 - 1,613,410 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1480,413,099 - 80,471,697 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11480,410,143 - 80,471,740 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21486,944,625 - 87,003,270 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POLR3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1953,411,869 - 53,462,773 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl953,411,889 - 53,464,668 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604813,832,883 - 13,883,800 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Polr3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475411,173,601 - 11,215,258 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475411,166,126 - 11,215,205 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POLR3A
707 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1553
Count of miRNA genes:917
Interacting mature miRNAs:1064
Transcripts:ENST00000372371, ENST00000472014, ENST00000473588, ENST00000484760
Prediction methods: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-5548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,729,173 - 79,729,326UniSTSGRCh37
Build 361079,399,179 - 79,399,332RGDNCBI36
Celera1073,015,765 - 73,015,918RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,724,122 - 73,724,275UniSTS
RH120039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,787,947 - 79,788,226UniSTSGRCh37
Build 361079,457,953 - 79,458,232RGDNCBI36
Celera1073,074,542 - 73,074,821RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,782,875 - 73,783,154UniSTS
TNG Radiation Hybrid Map1039266.0UniSTS
SHGC-132894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,729,168 - 79,729,383UniSTSGRCh37
Build 361079,399,174 - 79,399,389RGDNCBI36
Celera1073,015,760 - 73,015,975RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,724,117 - 73,724,332UniSTS
TNG Radiation Hybrid Map1039230.0UniSTS
STS-T70096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,734,958 - 79,735,094UniSTSGRCh37
Build 361079,404,964 - 79,405,100RGDNCBI36
Celera1073,021,550 - 73,021,686RGD
Cytogenetic Map10q22-q23UniSTS
HuRef1073,729,906 - 73,730,042UniSTS
GeneMap99-GB4 RH Map10390.26UniSTS
NCBI RH Map10972.3UniSTS
STS-AA033874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,734,963 - 79,735,209UniSTSGRCh37
Build 361079,404,969 - 79,405,215RGDNCBI36
Celera1073,021,555 - 73,021,801RGD
Cytogenetic Map10q22-q23UniSTS
GeneMap99-GB4 RH Map10382.26UniSTS
RPC155_3541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371079,735,788 - 79,736,639UniSTSGRCh37
Build 361079,405,794 - 79,406,645RGDNCBI36
Celera1073,022,380 - 73,023,231RGD
HuRef1073,730,736 - 73,731,587UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 233 51 436 45 717 50 618 142 1222 120 525 383 9 10 305 2
Low 2206 2877 1290 578 1190 415 3738 2038 2508 299 935 1229 166 1 1194 2483 3 1
Below cutoff 61 44 17 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF021351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY091462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA103416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA353439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372371   ⟹   ENSP00000361446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,149 - 78,029,515 (-)Ensembl
RefSeq Acc Id: ENST00000472014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,991,109 - 78,009,667 (-)Ensembl
RefSeq Acc Id: ENST00000473588   ⟹   ENSP00000473389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1078,002,197 - 78,019,252 (-)Ensembl
RefSeq Acc Id: ENST00000484760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1078,013,086 - 78,020,173 (-)Ensembl
RefSeq Acc Id: ENST00000616246   ⟹   ENSP00000483738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,969,251 - 77,985,320 (-)Ensembl
RefSeq Acc Id: ENST00000698724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,953,148 - 77,993,251 (-)Ensembl
RefSeq Acc Id: ENST00000698725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 77,981,834 (-)Ensembl
RefSeq Acc Id: ENST00000698726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 77,988,203 (-)Ensembl
RefSeq Acc Id: ENST00000698727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,008,835 (-)Ensembl
RefSeq Acc Id: ENST00000698728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,020,029 (-)Ensembl
RefSeq Acc Id: ENST00000698729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,515 (-)Ensembl
RefSeq Acc Id: ENST00000698730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,515 (-)Ensembl
RefSeq Acc Id: ENST00000698731   ⟹   ENSP00000513898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,515 (-)Ensembl
RefSeq Acc Id: ENST00000698732   ⟹   ENSP00000513899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,518 (-)Ensembl
RefSeq Acc Id: ENST00000698733   ⟹   ENSP00000513900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698734   ⟹   ENSP00000513901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,975,162 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,980,084 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,990,901 - 78,029,522 (-)Ensembl
RefSeq Acc Id: ENST00000698739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1077,993,093 - 78,029,522 (-)Ensembl
RefSeq Acc Id: NM_007055   ⟹   NP_008986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381077,975,149 - 78,029,515 (-)NCBI
GRCh371079,734,907 - 79,789,298 (-)RGD
Build 361079,405,900 - 79,459,265 (-)NCBI Archive
Celera1073,021,499 - 73,075,893 (-)RGD
HuRef1073,729,855 - 73,784,226 (-)ENTREZGENE
CHM1_11080,017,697 - 80,072,040 (-)NCBI
T2T-CHM13v2.01078,844,187 - 78,898,555 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008986   ⟸   NM_007055
- UniProtKB: Q8TCW5 (UniProtKB/Swiss-Prot),   O14802 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361446   ⟸   ENST00000372371
RefSeq Acc Id: ENSP00000483738   ⟸   ENST00000616246
RefSeq Acc Id: ENSP00000473389   ⟸   ENST00000473588
RefSeq Acc Id: ENSP00000513900   ⟸   ENST00000698733
RefSeq Acc Id: ENSP00000513899   ⟸   ENST00000698732
RefSeq Acc Id: ENSP00000513901   ⟸   ENST00000698734
RefSeq Acc Id: ENSP00000513898   ⟸   ENST00000698731
Protein Domains
RPOLA_N

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14802-F1-model_v2 AlphaFold O14802 1-1390 view protein structure

Promoters
RGD ID:7217943
Promoter ID:EPDNEW_H14718
Type:initiation region
Name:POLR3A_1
Description:RNA polymerase III subunit A
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
GRCh381078,029,515 - 78,029,575EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007055.4(POLR3A):c.1771-7C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000787963]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001290309]|Pol III-related leukodystrophy [RCV002222542]|not provided [RCV000522489] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024139] Chr10:78007761 [GRCh38]
Chr10:79767519 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1909+18G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024140]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754389]|not provided [RCV000224081] Chr10:78009519 [GRCh38]
Chr10:79769277 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.3(POLR3A):c.2554A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024141]|not provided [RCV000413750] Chr10:78000043 [GRCh38]
Chr10:79759801 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.2617-1G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024142]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754391]|not provided [RCV000384524] Chr10:77993368 [GRCh38]
Chr10:79753126 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024143]|not provided [RCV001268853] Chr10:78025043 [GRCh38]
Chr10:79784801 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024144] Chr10:77993294 [GRCh38]
Chr10:79753052 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000024145]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001824118]|not provided [RCV001852565] Chr10:77985961 [GRCh38]
Chr10:79745719 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034140]|not provided [RCV001852691] Chr10:78021617 [GRCh38]
Chr10:79781375 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034141]|not provided [RCV001852692] Chr10:78009960 [GRCh38]
Chr10:79769718 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034142] Chr10:78009539 [GRCh38]
Chr10:79769297 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034143] Chr10:78004792 [GRCh38]
Chr10:79764550 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034144] Chr10:78002232 [GRCh38]
Chr10:79761990 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034145] Chr10:77991125 [GRCh38]
Chr10:79750883 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034146] Chr10:77985960 [GRCh38]
Chr10:79745718 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) insertion Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034147] Chr10:77982170..77982171 [GRCh38]
Chr10:79741928..79741929 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034148] Chr10:77980174 [GRCh38]
Chr10:79739932 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000034149] Chr10:77980159 [GRCh38]
Chr10:79739917 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
GRCh38/hg38 10q22.3(chr10:77791298-78077947)x3 copy number gain See cases [RCV000051628] Chr10:77791298..78077947 [GRCh38]
Chr10:79551056..79837705 [GRCh37]
Chr10:79221062..79507711 [NCBI36]
Chr10:10q22.3
uncertain significance
NM_007055.3(POLR3A):c.4066G>A (p.Gly1356Arg) single nucleotide variant Malignant melanoma [RCV000069046] Chr10:77977585 [GRCh38]
Chr10:79737343 [GRCh37]
Chr10:79407349 [NCBI36]
Chr10:10q22.3
not provided
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108263]|not provided [RCV000889344]|not specified [RCV000118024] Chr10:78009889 [GRCh38]
Chr10:79769647 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3072-1G>T single nucleotide variant not provided [RCV001995590] Chr10:77985341 [GRCh38]
Chr10:79745099 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104983]|not provided [RCV000891282]|not specified [RCV000193190] Chr10:78021981 [GRCh38]
Chr10:79781739 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000315210]|not provided [RCV000425769]|not specified [RCV000195147] Chr10:77986123 [GRCh38]
Chr10:79745881 [GRCh37]
Chr10:10q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000185529]|not provided [RCV000969901] Chr10:77982811 [GRCh38]
Chr10:79742569 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) duplication Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541986]|not provided [RCV000292592] Chr10:78009893..78009894 [GRCh38]
Chr10:79769651..79769652 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1572+1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757952]|not provided [RCV001592941] Chr10:78013649 [GRCh38]
Chr10:79773407 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3243-2A>G single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757953]|not provided [RCV001855900] Chr10:77984300 [GRCh38]
Chr10:79744058 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755662]|not provided [RCV000224488] Chr10:77993367 [GRCh38]
Chr10:79753125 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001374415] Chr10:77981461 [GRCh38]
Chr10:79741219 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000284592]|not provided [RCV000498635] Chr10:77984261 [GRCh38]
Chr10:79744019 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000302337] Chr10:78017637 [GRCh38]
Chr10:79777395 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1763G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000320952] Chr10:77975715 [GRCh38]
Chr10:79735473 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*1219T>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000343688] Chr10:77976259 [GRCh38]
Chr10:79736017 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-6C>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000394864]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001764268]|not provided [RCV001523446] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*272G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000345486]|not provided [RCV001675783] Chr10:77977206 [GRCh38]
Chr10:79736964 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*469T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000346496] Chr10:77977009 [GRCh38]
Chr10:79736767 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000346563]|not provided [RCV000969587] Chr10:78013656 [GRCh38]
Chr10:79773414 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000370262]|not provided [RCV000972270] Chr10:77981473 [GRCh38]
Chr10:79741231 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*989G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000303733] Chr10:77976489 [GRCh38]
Chr10:79736247 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000323825]|not provided [RCV001522728] Chr10:78004863 [GRCh38]
Chr10:79764621 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000324269]|not provided [RCV000970462] Chr10:77983998 [GRCh38]
Chr10:79743756 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2976C>T (p.Asn992=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000398803]|not provided [RCV002056138] Chr10:77986085 [GRCh38]
Chr10:79745843 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.3594+15G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000325450]|not provided [RCV001513514] Chr10:77982638 [GRCh38]
Chr10:79742396 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*813A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000373477] Chr10:77976665 [GRCh38]
Chr10:79736423 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*272G>A single nucleotide variant Pol III-related leukodystrophy [RCV000400292] Chr10:77977206 [GRCh38]
Chr10:79736964 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*345A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000288210] Chr10:77977133 [GRCh38]
Chr10:79736891 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*136C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000305921] Chr10:77977342 [GRCh38]
Chr10:79737100 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2433C>T (p.Asp811=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000327321] Chr10:78001021 [GRCh38]
Chr10:79760779 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-5del deletion Pol III-related leukodystrophy [RCV000349353]|not provided [RCV000593957] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.*1342del deletion Pol III-related leukodystrophy [RCV000350350] Chr10:77976136 [GRCh38]
Chr10:79735894 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2472C>T (p.His824=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000272385]|not provided [RCV000973193] Chr10:78000982 [GRCh38]
Chr10:79760740 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1853C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000272496] Chr10:77975625 [GRCh38]
Chr10:79735383 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000272710]|not provided [RCV000965808] Chr10:77982268 [GRCh38]
Chr10:79742026 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.156A>G (p.Leu52=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000289062]|not provided [RCV002056143] Chr10:78026118 [GRCh38]
Chr10:79785876 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*2205T>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000289422] Chr10:77975273 [GRCh38]
Chr10:79735031 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1718G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000377860] Chr10:77975760 [GRCh38]
Chr10:79735518 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.318+13G>C single nucleotide variant Pol III-related leukodystrophy [RCV000273370] Chr10:78025609 [GRCh38]
Chr10:79785367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000273448]|not provided [RCV000906740] Chr10:77982179 [GRCh38]
Chr10:79741937 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000307650]|not provided [RCV000912400] Chr10:77999993 [GRCh38]
Chr10:79759751 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.726A>G (p.Pro242=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000353130]|not provided [RCV002056142] Chr10:78022304 [GRCh38]
Chr10:79782062 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000353048]|not provided [RCV002056136] Chr10:77980163 [GRCh38]
Chr10:79739921 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*90G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000400959]|not provided [RCV001788194] Chr10:77977388 [GRCh38]
Chr10:79737146 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1303C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000309919] Chr10:77976175 [GRCh38]
Chr10:79735933 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) single nucleotide variant Pol III-related leukodystrophy [RCV000331236]|not provided [RCV002056137] Chr10:77982216 [GRCh38]
Chr10:79741974 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*2134C>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000379851] Chr10:77975344 [GRCh38]
Chr10:79735102 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1323C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000401499] Chr10:77976155 [GRCh38]
Chr10:79735913 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3242+8C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000401883]|not provided [RCV000897010] Chr10:77985162 [GRCh38]
Chr10:79744920 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1965A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000401996] Chr10:77975513 [GRCh38]
Chr10:79735271 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1642+9G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000310422] Chr10:78010462 [GRCh38]
Chr10:79770220 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.240A>C (p.Leu80=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000333229]|not provided [RCV001522729] Chr10:78025700 [GRCh38]
Chr10:79785458 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*936T>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000356312] Chr10:77976542 [GRCh38]
Chr10:79736300 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3594+11A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000382146]|not provided [RCV001516466] Chr10:77982642 [GRCh38]
Chr10:79742400 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*690C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000276764] Chr10:77976788 [GRCh38]
Chr10:79736546 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1448A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000293036] Chr10:77976030 [GRCh38]
Chr10:79735788 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*470G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000294028] Chr10:77977008 [GRCh38]
Chr10:79736766 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1867A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000312618] Chr10:77975611 [GRCh38]
Chr10:79735369 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1953G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000334358] Chr10:77975525 [GRCh38]
Chr10:79735283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*673A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000334162] Chr10:77976805 [GRCh38]
Chr10:79736563 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.*1695G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000262168] Chr10:77975783 [GRCh38]
Chr10:79735541 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.1771-4T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000294461]|not provided [RCV001510845] Chr10:78009679 [GRCh38]
Chr10:79769437 [GRCh37]
Chr10:10q22.3
benign|uncertain significance
NM_007055.4(POLR3A):c.3858C>T (p.His1286=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000313358]|not provided [RCV000914841] Chr10:77981461 [GRCh38]
Chr10:79741219 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1924G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000313281] Chr10:77975554 [GRCh38]
Chr10:79735312 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000336216]|not provided [RCV001516926] Chr10:77985977 [GRCh38]
Chr10:79745735 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000358798]|not provided [RCV001510619] Chr10:78001060 [GRCh38]
Chr10:79760818 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*426C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000384779] Chr10:77977052 [GRCh38]
Chr10:79736810 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.701A>T (p.Asp234Val) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000262907] Chr10:78022329 [GRCh38]
Chr10:79782087 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000278704]|not provided [RCV000900636] Chr10:77985938 [GRCh38]
Chr10:79745696 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000279101]|not provided [RCV002056140] Chr10:78007745 [GRCh38]
Chr10:79767503 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000295587]|not provided [RCV000514179] Chr10:78009910 [GRCh38]
Chr10:79769668 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000337314]|not provided [RCV000972271] Chr10:77984262 [GRCh38]
Chr10:79744020 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*620G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000386002] Chr10:77976858 [GRCh38]
Chr10:79736616 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.481G>A (p.Ala161Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000386514]|not provided [RCV001859787] Chr10:78024980 [GRCh38]
Chr10:79784738 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*920T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000263893] Chr10:77976558 [GRCh38]
Chr10:79736316 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1589G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000279968] Chr10:77975889 [GRCh38]
Chr10:79735647 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2580C>T (p.Asp860=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000362306]|not provided [RCV000919429] Chr10:78000017 [GRCh38]
Chr10:79759775 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.2286C>T (p.His762=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000264060]|not provided [RCV001510620] Chr10:78002270 [GRCh38]
Chr10:79762028 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000298275]|not provided [RCV000952949] Chr10:78022289 [GRCh38]
Chr10:79782047 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*883T>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000316485] Chr10:77976595 [GRCh38]
Chr10:79736353 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*135G>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000340365] Chr10:77977343 [GRCh38]
Chr10:79737101 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*2039C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000340439] Chr10:77975439 [GRCh38]
Chr10:79735197 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1782G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000363619] Chr10:77975696 [GRCh38]
Chr10:79735454 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000364842]|not provided [RCV000881909] Chr10:77982253 [GRCh38]
Chr10:79742011 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1862G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000364933] Chr10:77975616 [GRCh38]
Chr10:79735374 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1461A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000389610] Chr10:77976017 [GRCh38]
Chr10:79735775 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.*1953G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000281706] Chr10:77975525 [GRCh38]
Chr10:79735283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.621G>A (p.Val207=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000318121]|not provided [RCV000948845] Chr10:78024573 [GRCh38]
Chr10:79784331 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000391325]|not provided [RCV001478362] Chr10:77980175 [GRCh38]
Chr10:79739933 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1771_*1780del deletion Pol III-related leukodystrophy [RCV000266759] Chr10:77975698..77975707 [GRCh38]
Chr10:79735456..79735465 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2073C>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000283050] Chr10:77975405 [GRCh38]
Chr10:79735163 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1680C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000319684] Chr10:77975798 [GRCh38]
Chr10:79735556 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.1901A>G (p.Asn634Ser) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000320188] Chr10:78009545 [GRCh38]
Chr10:79769303 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2898G>A (p.Leu966=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000367603]|not provided [RCV002056139] Chr10:77991057 [GRCh38]
Chr10:79750815 [GRCh37]
Chr10:10q22.3
benign|likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1015T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000265026] Chr10:77976463 [GRCh38]
Chr10:79736221 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.491-2A>G single nucleotide variant not provided [RCV000380107] Chr10:78024705 [GRCh38]
Chr10:79784463 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.876T>A (p.Val292=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000267196] Chr10:78022154 [GRCh38]
Chr10:79781912 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) single nucleotide variant not provided [RCV000489387] Chr10:77993331 [GRCh38]
Chr10:79753089 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3594+145T>G single nucleotide variant not provided [RCV002284736] Chr10:77982508 [GRCh38]
Chr10:79742266 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1683A>G (p.Arg561=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000345415] Chr10:78009951 [GRCh38]
Chr10:79769709 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1041A>C (p.Gly347=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000361748]|not provided [RCV002056141] Chr10:78021867 [GRCh38]
Chr10:79781625 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1945G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000398759] Chr10:77975533 [GRCh38]
Chr10:79735291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_033022.4(RPS24):c.-8T>G single nucleotide variant Diamond-Blackfan anemia 3 [RCV001103178]|Diamond-Blackfan anemia [RCV000305511]|Pol III-related leukodystrophy [RCV000329929]|not provided [RCV002286729]|not specified [RCV000500183] Chr10:78033894 [GRCh38]
Chr10:79793652 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.*1159C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000303915] Chr10:77976319 [GRCh38]
Chr10:79736077 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000402047] Chr10:78009985 [GRCh38]
Chr10:79769743 [GRCh37]
Chr10:10q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.-35C>G single nucleotide variant Diamond-Blackfan anemia [RCV000319492]|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108351] Chr10:78029442 [GRCh38]
Chr10:79789200 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1825T>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000306572] Chr10:77975653 [GRCh38]
Chr10:79735411 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.-103T>A single nucleotide variant Diamond-Blackfan anemia [RCV000355569]|Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108352]|Pol III-related leukodystrophy [RCV000344073] Chr10:78029510 [GRCh38]
Chr10:79789268 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.163G>A (p.Val55Met) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000387714] Chr10:78026111 [GRCh38]
Chr10:79785869 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2809G>A (p.Glu937Lys) single nucleotide variant not provided [RCV000584844] Chr10:77991146 [GRCh38]
Chr10:79750904 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1569C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000351424] Chr10:77975909 [GRCh38]
Chr10:79735667 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1207T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000407862] Chr10:77976271 [GRCh38]
Chr10:79736029 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1432-12T>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000407931] Chr10:78013802 [GRCh38]
Chr10:79773560 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1873C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000370753] Chr10:77975605 [GRCh38]
Chr10:79735363 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*2190G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000323395] Chr10:77975288 [GRCh38]
Chr10:79735046 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1640del deletion Pol III-related leukodystrophy [RCV000372239] Chr10:77975838 [GRCh38]
Chr10:79735596 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2074+9C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000373628] Chr10:78007693 [GRCh38]
Chr10:79767451 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2617-6C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000391602] Chr10:77993373 [GRCh38]
Chr10:79753131 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_033022.3(RPS24):c.-109A>G single nucleotide variant Diamond-Blackfan anemia 3 [RCV001108353]|Diamond-Blackfan anemia [RCV000290077]|Pol III-related leukodystrophy [RCV000274775] Chr10:78033793 [GRCh38]
Chr10:79793551 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1781T>G (p.Leu594Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000374853] Chr10:78009665 [GRCh38]
Chr10:79769423 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1869C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000393879] Chr10:77975609 [GRCh38]
Chr10:79735367 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4024+11T>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000300561]|not provided [RCV002056135] Chr10:77980130 [GRCh38]
Chr10:79739888 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.3336G>A (p.Glu1112=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000376506] Chr10:77984205 [GRCh38]
Chr10:79743963 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1100G>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000361008] Chr10:77976378 [GRCh38]
Chr10:79736136 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2074+2dup duplication not provided [RCV000591853] Chr10:78007699..78007700 [GRCh38]
Chr10:79767457..79767458 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541990]|not provided [RCV000414392] Chr10:78007846 [GRCh38]
Chr10:79767604 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000988395]|not provided [RCV000431340] Chr10:78009889 [GRCh38]
Chr10:79769647 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) single nucleotide variant not provided [RCV000431344] Chr10:78026103 [GRCh38]
Chr10:79785861 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) single nucleotide variant not provided [RCV000441182] Chr10:77993243 [GRCh38]
Chr10:79753001 [GRCh37]
Chr10:10q22.3
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_007055.4(POLR3A):c.3337-5T>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755669]|Wiedemann-Rautenstrauch-like progeroid syndrome [RCV001291254]|not provided [RCV000498819] Chr10:77984017 [GRCh38]
Chr10:79743775 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.3243-1G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000500589] Chr10:77984299 [GRCh38]
Chr10:79744057 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000845267]|not provided [RCV000494591] Chr10:78004844 [GRCh38]
Chr10:79764602 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_007055.4(POLR3A):c.1909+22G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000988394]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754390]|POLR3A-related neurological disorders [RCV001249723]|not provided [RCV000514925]|not specified [RCV001814996] Chr10:78009515 [GRCh38]
Chr10:79769273 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007055.4(POLR3A):c.3597G>T (p.Val1199=) single nucleotide variant not specified [RCV000613682] Chr10:77982316 [GRCh38]
Chr10:79742074 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4057A>G (p.Met1353Val) single nucleotide variant not provided [RCV000596117] Chr10:77977594 [GRCh38]
Chr10:79737352 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) single nucleotide variant not provided [RCV000658106] Chr10:78009952 [GRCh38]
Chr10:79769710 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1572+5G>A single nucleotide variant not provided [RCV000658107] Chr10:78013645 [GRCh38]
Chr10:79773403 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1847A>C (p.Asn616Thr) single nucleotide variant not provided [RCV000658182] Chr10:78009599 [GRCh38]
Chr10:79769357 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1390C>T (p.Arg464Trp) single nucleotide variant not provided [RCV000658181] Chr10:78017616 [GRCh38]
Chr10:79777374 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3562G>A (p.Val1188Met) single nucleotide variant not provided [RCV000658180] Chr10:77982685 [GRCh38]
Chr10:79742443 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000714789] Chr10:78002269 [GRCh38]
Chr10:79762027 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) single nucleotide variant Hypomyelinating leukodystrophy 4 [RCV000722140] Chr10:78000983 [GRCh38]
Chr10:79760741 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3337-1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755670]|Wiedemann-Rautenstrauch-like progeroid syndrome [RCV001291255]|not provided [RCV001784365] Chr10:77984013 [GRCh38]
Chr10:79743771 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542770]|Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755668]|not provided [RCV000760689] Chr10:78007771 [GRCh38]
Chr10:79767529 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755671]|Wiedemann-Rautenstrauch-like progeroid syndrome [RCV001291256]|not provided [RCV000994469] Chr10:78022270 [GRCh38]
Chr10:79782028 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11 single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000755664] Chr10:10q22.3 pathogenic
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754380]|not provided [RCV001815367] Chr10:77985206 [GRCh38]
Chr10:79744964 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754394]|not provided [RCV001868192] Chr10:77983957 [GRCh38]
Chr10:79743715 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754393] Chr10:77981445 [GRCh38]
Chr10:79741203 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754392] Chr10:77980162 [GRCh38]
Chr10:79739920 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754388] Chr10:77993277 [GRCh38]
Chr10:79753035 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754387] Chr10:78029405 [GRCh38]
Chr10:79789163 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.*18C>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754386] Chr10:77977460 [GRCh38]
Chr10:79737218 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3772_3773del (p.Leu1258fs) microsatellite Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754385] Chr10:77981546..77981547 [GRCh38]
Chr10:79741304..79741305 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754384] Chr10:78009646 [GRCh38]
Chr10:79769404 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754383] Chr10:78000980 [GRCh38]
Chr10:79760738 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1048+5G>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754382] Chr10:78021855 [GRCh38]
Chr10:79781613 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3337-11T>C single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000754381] Chr10:77984023 [GRCh38]
Chr10:79743781 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_007055.4(POLR3A):c.2988+42T>C single nucleotide variant not provided [RCV001530529] Chr10:77986031 [GRCh38]
Chr10:79745789 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2075-4A>C single nucleotide variant not provided [RCV000916198] Chr10:78004892 [GRCh38]
Chr10:79764650 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1289+3A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541981] Chr10:78019159 [GRCh38]
Chr10:79778917 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) duplication Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541982] Chr10:78017704..78017705 [GRCh38]
Chr10:79777462..79777463 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541984] Chr10:78009976 [GRCh38]
Chr10:79769734 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541989]|not provided [RCV001859357] Chr10:78009642 [GRCh38]
Chr10:79769400 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541992] Chr10:78007771 [GRCh38]
Chr10:79767529 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541996] Chr10:78004865 [GRCh38]
Chr10:79764623 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542000]|not provided [RCV001557204] Chr10:78000050 [GRCh38]
Chr10:79759808 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|not provided
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542004] Chr10:77993274 [GRCh38]
Chr10:79753032 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2988+1G>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542008] Chr10:77986072 [GRCh38]
Chr10:79745830 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542009]|not provided [RCV001732202] Chr10:77985207 [GRCh38]
Chr10:79744965 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|not provided
NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542013] Chr10:77982168 [GRCh38]
Chr10:79741926 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.441dup (p.Asp148Ter) duplication Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542015] Chr10:78025019..78025020 [GRCh38]
Chr10:79784777..79784778 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.496G>A (p.Val166Ile) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542016]|not provided [RCV002032526] Chr10:78024698 [GRCh38]
Chr10:79784456 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.3309G>A (p.Gly1103=) single nucleotide variant not provided [RCV000977756] Chr10:77984232 [GRCh38]
Chr10:79743990 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3760-47T>C single nucleotide variant not provided [RCV001666368] Chr10:77981606 [GRCh38]
Chr10:79741364 [GRCh37]
Chr10:10q22.3
benign
Single allele deletion not provided [RCV001647747] Chr10:78029613 [GRCh38]
Chr10:79789371 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.740C>T (p.Pro247Leu) single nucleotide variant not provided [RCV001574006] Chr10:78022290 [GRCh38]
Chr10:79782048 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3644A>G (p.Asp1215Gly) single nucleotide variant not provided [RCV000761733] Chr10:77982269 [GRCh38]
Chr10:79742027 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3596T>G (p.Val1199Gly) single nucleotide variant not provided [RCV000761734] Chr10:77982317 [GRCh38]
Chr10:79742075 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1895G>A (p.Cys632Tyr) single nucleotide variant not provided [RCV000761735] Chr10:78009551 [GRCh38]
Chr10:79769309 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.490+1G>A single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV000757951] Chr10:78024970 [GRCh38]
Chr10:79784728 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2790A>C (p.Ala930=) single nucleotide variant not provided [RCV000921239] Chr10:77991165 [GRCh38]
Chr10:79750923 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-6C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108260]|not provided [RCV000972272] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.1771-7C>A single nucleotide variant not provided [RCV000971117] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
likely benign|conflicting interpretations of pathogenicity
NM_007055.4(POLR3A):c.2217G>A (p.Gln739=) single nucleotide variant not provided [RCV000920052] Chr10:78004746 [GRCh38]
Chr10:79764504 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.795C>T (p.Ser265=) single nucleotide variant not provided [RCV000926032] Chr10:78022235 [GRCh38]
Chr10:79781993 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.396C>T (p.Pro132=) single nucleotide variant not provided [RCV000881159] Chr10:78025065 [GRCh38]
Chr10:79784823 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2136C>T (p.Ala712=) single nucleotide variant not provided [RCV000970463] Chr10:78004827 [GRCh38]
Chr10:79764585 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2229T>C (p.Thr743=) single nucleotide variant not provided [RCV000924096] Chr10:78004734 [GRCh38]
Chr10:79764492 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102872]|not provided [RCV000947264] Chr10:77980178 [GRCh38]
Chr10:79739936 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.495C>T (p.Thr165=) single nucleotide variant not provided [RCV000919881] Chr10:78024699 [GRCh38]
Chr10:79784457 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1113C>T (p.Pro371=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104981]|not provided [RCV000903855] Chr10:78021618 [GRCh38]
Chr10:79781376 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2344C>T (p.Leu782=) single nucleotide variant not provided [RCV000922211] Chr10:78002212 [GRCh38]
Chr10:79761970 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.606A>G (p.Glu202=) single nucleotide variant not provided [RCV000901381] Chr10:78024588 [GRCh38]
Chr10:79784346 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.870C>T (p.Asn290=) single nucleotide variant not provided [RCV000983360] Chr10:78022160 [GRCh38]
Chr10:79781918 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4126C>A (p.Pro1376Thr) single nucleotide variant not provided [RCV000901465] Chr10:77977525 [GRCh38]
Chr10:79737283 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1910-4C>T single nucleotide variant not provided [RCV000922703] Chr10:78007870 [GRCh38]
Chr10:79767628 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2349C>T (p.Cys783=) single nucleotide variant not provided [RCV000924670] Chr10:78002207 [GRCh38]
Chr10:79761965 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=) single nucleotide variant not provided [RCV000881476] Chr10:77977580 [GRCh38]
Chr10:79737338 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104878]|not provided [RCV000962023] Chr10:78004767 [GRCh38]
Chr10:79764525 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3585T>C (p.Asp1195=) single nucleotide variant not provided [RCV000933005] Chr10:77982662 [GRCh38]
Chr10:79742420 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3462C>T (p.Cys1154=) single nucleotide variant not provided [RCV000933038] Chr10:77982785 [GRCh38]
Chr10:79742543 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1575T>G (p.Thr525=) single nucleotide variant not provided [RCV000920595] Chr10:78010538 [GRCh38]
Chr10:79770296 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1122C>T (p.Asn374=) single nucleotide variant not provided [RCV000919634] Chr10:78021609 [GRCh38]
Chr10:79781367 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2334C>T (p.Leu778=) single nucleotide variant not provided [RCV000881477] Chr10:78002222 [GRCh38]
Chr10:79761980 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.3264G>A (p.Gln1088=) single nucleotide variant not provided [RCV000966386] Chr10:77984277 [GRCh38]
Chr10:79744035 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3861G>T (p.Val1287=) single nucleotide variant not provided [RCV000928914] Chr10:77981458 [GRCh38]
Chr10:79741216 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.601del (p.Ile201fs) deletion Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000845270]|not provided [RCV001009158] Chr10:78024593 [GRCh38]
Chr10:79784351 [GRCh37]
Chr10:10q22.3
pathogenic
NC_000010.11:g.78009682G>C single nucleotide variant Hypomyelinating leukodystrophy 7 [RCV000845272]   pathogenic
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000845269] Chr10:78021680 [GRCh38]
Chr10:79781438 [GRCh37]
Chr10:10q22.3
pathogenic
GRCh37/hg19 10q22.3(chr10:79783761-79813801)x3 copy number gain not provided [RCV000848827] Chr10:79783761..79813801 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000791242] Chr10:78002231 [GRCh38]
Chr10:79761989 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.4126C>T (p.Pro1376Ser) single nucleotide variant not provided [RCV001091329] Chr10:77977525 [GRCh38]
Chr10:79737283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2025del (p.Ala676fs) deletion not provided [RCV001091332] Chr10:78007751 [GRCh38]
Chr10:79767509 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000845268]|not provided [RCV001784462] Chr10:78009953 [GRCh38]
Chr10:79769711 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) deletion Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000845271]|not provided [RCV001858455] Chr10:77982664 [GRCh38]
Chr10:79742422 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2402A>C (p.Gln801Pro) single nucleotide variant not provided [RCV001091331] Chr10:78001052 [GRCh38]
Chr10:79760810 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV000787962] Chr10:78017606 [GRCh38]
Chr10:79777364 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1227A>G (p.Gln409=) single nucleotide variant not provided [RCV000914200] Chr10:78019224 [GRCh38]
Chr10:79778982 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2247+8C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104877]|not provided [RCV000959115] Chr10:78004708 [GRCh38]
Chr10:79764466 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter) single nucleotide variant not provided [RCV000994467] Chr10:78001032 [GRCh38]
Chr10:79760790 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) single nucleotide variant not provided [RCV001008019] Chr10:77984250 [GRCh38]
Chr10:79744008 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3593A>G (p.Lys1198Arg) single nucleotide variant not provided [RCV000991194] Chr10:77982654 [GRCh38]
Chr10:79742412 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2359G>A (p.Gly787Ser) single nucleotide variant not provided [RCV000994468] Chr10:78002197 [GRCh38]
Chr10:79761955 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.641C>T (p.Ala214Val) single nucleotide variant not provided [RCV000994470] Chr10:78024553 [GRCh38]
Chr10:79784311 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*910G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104681] Chr10:77976568 [GRCh38]
Chr10:79736326 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1339A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107992] Chr10:77976139 [GRCh38]
Chr10:79735897 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.774T>C (p.Pro258=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104985]|not provided [RCV001532608] Chr10:78022256 [GRCh38]
Chr10:79782014 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.1770+6T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108262]|not provided [RCV001862869] Chr10:78009858 [GRCh38]
Chr10:79769616 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1409A>G (p.Lys470Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001103069] Chr10:78017597 [GRCh38]
Chr10:79777355 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541983] Chr10:78013789 [GRCh38]
Chr10:79773547 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541995]|not provided [RCV002032523] Chr10:78007731 [GRCh38]
Chr10:79767489 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541997]|not provided [RCV001859358] Chr10:78001073 [GRCh38]
Chr10:79760831 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542005] Chr10:78025668 [GRCh38]
Chr10:79785426 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542010] Chr10:77983942 [GRCh38]
Chr10:79743700 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542012]|not provided [RCV002032524] Chr10:77982195 [GRCh38]
Chr10:79741953 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542014]|not provided [RCV002032525] Chr10:77981538 [GRCh38]
Chr10:79741296 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.4024+299T>A single nucleotide variant not provided [RCV001675214] Chr10:77979842 [GRCh38]
Chr10:79739600 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2554del (p.Met852fs) deletion Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542769] Chr10:78000043 [GRCh38]
Chr10:79759801 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3242+34T>G single nucleotide variant not provided [RCV001635806] Chr10:77985136 [GRCh38]
Chr10:79744894 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3759+288A>C single nucleotide variant not provided [RCV001615788] Chr10:77981866 [GRCh38]
Chr10:79741624 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.645+54G>A single nucleotide variant not provided [RCV001685160] Chr10:78024495 [GRCh38]
Chr10:79784253 [GRCh37]
Chr10:10q22.3
benign
Single allele single nucleotide variant not provided [RCV001652114] Chr10:78029704 [GRCh38]
Chr10:79789462 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1770+50dup duplication not provided [RCV001669391] Chr10:78009809..78009810 [GRCh38]
Chr10:79769567..79769568 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3242+61G>C single nucleotide variant not provided [RCV001656519] Chr10:77985109 [GRCh38]
Chr10:79744867 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.491-109A>G single nucleotide variant not provided [RCV001656795] Chr10:78024812 [GRCh38]
Chr10:79784570 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3901C>T (p.Leu1301=) single nucleotide variant not provided [RCV000918658] Chr10:77980264 [GRCh38]
Chr10:79740022 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104793]|not provided [RCV000910540] Chr10:77981497 [GRCh38]
Chr10:79741255 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2886G>A (p.Gln962=) single nucleotide variant not provided [RCV000979300] Chr10:77991069 [GRCh38]
Chr10:79750827 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV000947265] Chr10:78025023 [GRCh38]
Chr10:79784781 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1110G>A (p.Ser370=) single nucleotide variant not provided [RCV000932382] Chr10:78021621 [GRCh38]
Chr10:79781379 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1716G>T (p.Leu572=) single nucleotide variant not provided [RCV000896749] Chr10:78009918 [GRCh38]
Chr10:79769676 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3021C>T (p.Thr1007=) single nucleotide variant not provided [RCV000886180] Chr10:77985953 [GRCh38]
Chr10:79745711 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-7C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108261]|not provided [RCV000886797] Chr10:78009682 [GRCh38]
Chr10:79769440 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.2799G>A (p.Pro933=) single nucleotide variant not provided [RCV000916973] Chr10:77991156 [GRCh38]
Chr10:79750914 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1302C>T (p.Tyr434=) single nucleotide variant not provided [RCV000917019] Chr10:78017704 [GRCh38]
Chr10:79777462 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3342C>T (p.Ser1114=) single nucleotide variant not provided [RCV000906159] Chr10:77984007 [GRCh38]
Chr10:79743765 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1278G>A (p.Thr426=) single nucleotide variant not provided [RCV000931359] Chr10:78019173 [GRCh38]
Chr10:79778931 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.186G>A (p.Thr62=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001106140]|not provided [RCV000887678] Chr10:78025754 [GRCh38]
Chr10:79785512 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001007775]|not provided [RCV001350255] Chr10:77983961 [GRCh38]
Chr10:79743719 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1585C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107340] Chr10:77975893 [GRCh38]
Chr10:79735651 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*344C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108084] Chr10:77977134 [GRCh38]
Chr10:79736892 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*339A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108085] Chr10:77977139 [GRCh38]
Chr10:79736897 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.*308A>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108086] Chr10:77977170 [GRCh38]
Chr10:79736928 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*201G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108088] Chr10:77977277 [GRCh38]
Chr10:79737035 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.*150G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108089] Chr10:77977328 [GRCh38]
Chr10:79737086 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1129G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102764] Chr10:77976349 [GRCh38]
Chr10:79736107 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*994C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102766] Chr10:77976484 [GRCh38]
Chr10:79736242 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2993G>A (p.Arg998His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108168]|not provided [RCV001856444] Chr10:77985981 [GRCh38]
Chr10:79745739 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104879] Chr10:78004882 [GRCh38]
Chr10:79764640 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2988+18C>T single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001197958]|not provided [RCV002071850] Chr10:77986055 [GRCh38]
Chr10:79745813 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.3549C>T (p.Ser1183=) single nucleotide variant not provided [RCV000913273] Chr10:77982698 [GRCh38]
Chr10:79742456 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1755G>A (p.Pro585=) single nucleotide variant not provided [RCV000913375] Chr10:78009879 [GRCh38]
Chr10:79769637 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1644T>C (p.Gly548=) single nucleotide variant not provided [RCV000933929] Chr10:78009990 [GRCh38]
Chr10:79769748 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104980]|not provided [RCV000912116] Chr10:78017695 [GRCh38]
Chr10:79777453 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.4158C>T (p.Ile1386=) single nucleotide variant not provided [RCV000935211] Chr10:77977493 [GRCh38]
Chr10:79737251 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.646-139A>G single nucleotide variant not provided [RCV001688650] Chr10:78022523 [GRCh38]
Chr10:79782281 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2074+244C>T single nucleotide variant not provided [RCV001620101] Chr10:78007458 [GRCh38]
Chr10:79767216 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.645+178del deletion not provided [RCV001596181] Chr10:78024371 [GRCh38]
Chr10:79784129 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1910-68T>G single nucleotide variant not provided [RCV001720486] Chr10:78007934 [GRCh38]
Chr10:79767692 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1186-127C>T single nucleotide variant not provided [RCV001596752] Chr10:78019392 [GRCh38]
Chr10:79779150 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2479-125A>C single nucleotide variant not provided [RCV001618065] Chr10:78000243 [GRCh38]
Chr10:79760001 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3759+265_3759+267dup duplication not provided [RCV001687291] Chr10:77981868..77981869 [GRCh38]
Chr10:79741626..79741627 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.180+27A>C single nucleotide variant not provided [RCV001687297] Chr10:78026067 [GRCh38]
Chr10:79785825 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2247+53G>A single nucleotide variant not provided [RCV001674576] Chr10:78004663 [GRCh38]
Chr10:79764421 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3072-171T>C single nucleotide variant not provided [RCV001674693] Chr10:77985511 [GRCh38]
Chr10:79745269 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1573-252G>A single nucleotide variant not provided [RCV001636533] Chr10:78010792 [GRCh38]
Chr10:79770550 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.4025-229T>G single nucleotide variant not provided [RCV001657550] Chr10:77977855 [GRCh38]
Chr10:79737613 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1185+289T>C single nucleotide variant not provided [RCV001715050] Chr10:78021257 [GRCh38]
Chr10:79781015 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.645+177_645+178del deletion not provided [RCV001677939] Chr10:78024371..78024372 [GRCh38]
Chr10:79784129..79784130 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1290-233C>T single nucleotide variant not provided [RCV001637851] Chr10:78017949 [GRCh38]
Chr10:79777707 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.4025-31G>A single nucleotide variant not provided [RCV001682442] Chr10:77977657 [GRCh38]
Chr10:79737415 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3892-231A>G single nucleotide variant not provided [RCV001638416] Chr10:77980504 [GRCh38]
Chr10:79740262 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3892-25C>T single nucleotide variant not provided [RCV001674228] Chr10:77980298 [GRCh38]
Chr10:79740056 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2359+311del deletion not provided [RCV001594532] Chr10:78001886 [GRCh38]
Chr10:79761644 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2916C>T (p.Phe972=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102971]|not provided [RCV002067776] Chr10:77986145 [GRCh38]
Chr10:79745903 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.2784C>A (p.Ile928=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102972] Chr10:77993200 [GRCh38]
Chr10:79752958 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1335A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107993] Chr10:77976143 [GRCh38]
Chr10:79735901 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*923G>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104680] Chr10:77976555 [GRCh38]
Chr10:79736313 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1049-6A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104982] Chr10:78021688 [GRCh38]
Chr10:79781446 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*818G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104682] Chr10:77976660 [GRCh38]
Chr10:79736418 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3771T>C (p.Thr1257=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104796] Chr10:77981548 [GRCh38]
Chr10:79741306 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*671T>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001105847] Chr10:77976807 [GRCh38]
Chr10:79736565 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001105936] Chr10:77982267 [GRCh38]
Chr10:79742025 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*586G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001105848] Chr10:77976892 [GRCh38]
Chr10:79736650 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001105937]|not provided [RCV001325973] Chr10:77982771 [GRCh38]
Chr10:79742529 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1910-13A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001106042]|not provided [RCV002069746] Chr10:78007879 [GRCh38]
Chr10:79767637 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.1824C>T (p.Ser608=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001106043]|not provided [RCV002067785] Chr10:78009622 [GRCh38]
Chr10:79769380 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.282T>C (p.His94=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001106139]|not provided [RCV002069751] Chr10:78025658 [GRCh38]
Chr10:79785416 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
NM_007055.4(POLR3A):c.*1607G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107339] Chr10:77975871 [GRCh38]
Chr10:79735629 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1564C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107341] Chr10:77975914 [GRCh38]
Chr10:79735672 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1457G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107342] Chr10:77976021 [GRCh38]
Chr10:79735779 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2662C>A (p.Leu888Met) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102973] Chr10:77993322 [GRCh38]
Chr10:79753080 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1596G>A (p.Pro532=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001103067] Chr10:78010517 [GRCh38]
Chr10:79770275 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1509T>C (p.Asp503=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001103068] Chr10:78013713 [GRCh38]
Chr10:79773471 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1681C>G (p.Arg561Gly) single nucleotide variant not provided [RCV001171771] Chr10:78009953 [GRCh38]
Chr10:79769711 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.*1341A>C single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107991] Chr10:77976137 [GRCh38]
Chr10:79735895 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1643C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107338] Chr10:77975835 [GRCh38]
Chr10:79735593 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3430-42C>A single nucleotide variant not provided [RCV001670144] Chr10:77982859 [GRCh38]
Chr10:79742617 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.4024+127del deletion not provided [RCV001615002] Chr10:77980014 [GRCh38]
Chr10:79739772 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1909+292G>T single nucleotide variant not provided [RCV001648917] Chr10:78009245 [GRCh38]
Chr10:79769003 [GRCh37]
Chr10:10q22.3
benign
NM_007055.3(POLR3A):c.367_369delAAG microsatellite Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542011] Chr10:78025092..78025094 [GRCh38]
Chr10:79784850..79784852 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542018] Chr10:78021978 [GRCh38]
Chr10:79781736 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541980] Chr10:78019265 [GRCh38]
Chr10:79779023 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1797G>C (p.Gln599His) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541988] Chr10:78009649 [GRCh38]
Chr10:79769407 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542002] Chr10:77993366 [GRCh38]
Chr10:79753124 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542003] Chr10:77993324 [GRCh38]
Chr10:79753082 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542006] Chr10:77991145 [GRCh38]
Chr10:79750903 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1573-133G>A single nucleotide variant not provided [RCV001678748] Chr10:78010673 [GRCh38]
Chr10:79770431 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.126C>G (p.Tyr42Ter) single nucleotide variant not provided [RCV001171772] Chr10:78026148 [GRCh38]
Chr10:79785906 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3430-23A>G single nucleotide variant not provided [RCV001650234] Chr10:77982840 [GRCh38]
Chr10:79742598 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3839dup (p.Met1280fs) duplication Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001647198] Chr10:77981479..77981480 [GRCh38]
Chr10:79741237..79741238 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2478+48A>C single nucleotide variant not provided [RCV001648326] Chr10:78000928 [GRCh38]
Chr10:79760686 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.646-134A>G single nucleotide variant not provided [RCV001645158] Chr10:78022518 [GRCh38]
Chr10:79782276 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3760-164C>T single nucleotide variant not provided [RCV001691795] Chr10:77981723 [GRCh38]
Chr10:79741481 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3242+67C>T single nucleotide variant not provided [RCV001669772] Chr10:77985103 [GRCh38]
Chr10:79744861 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1431+34G>T single nucleotide variant not provided [RCV001695086] Chr10:78017541 [GRCh38]
Chr10:79777299 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3905G>T (p.Gly1302Val) single nucleotide variant POLR3A-related neurological disorders [RCV001249722] Chr10:77980260 [GRCh38]
Chr10:79740018 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.4125G>T (p.Arg1375Ser) single nucleotide variant not provided [RCV001091330] Chr10:77977526 [GRCh38]
Chr10:79737284 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1097G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102765] Chr10:77976381 [GRCh38]
Chr10:79736139 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.871G>A (p.Asp291Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104984]|not provided [RCV001856413] Chr10:78022159 [GRCh38]
Chr10:79781917 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1982A>G (p.Asn661Ser) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001196134]|not provided [RCV001863101] Chr10:78007794 [GRCh38]
Chr10:79767552 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-5C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001106044]|not provided [RCV001772322] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001171506] Chr10:77993205 [GRCh38]
Chr10:79752963 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1342A>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001107990] Chr10:77976136 [GRCh38]
Chr10:79735894 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*303C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108087] Chr10:77977175 [GRCh38]
Chr10:79736933 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.*1152G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102763] Chr10:77976326 [GRCh38]
Chr10:79736084 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.181-11T>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001108350] Chr10:78025770 [GRCh38]
Chr10:79785528 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4129C>G (p.Leu1377Val) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001102871] Chr10:77977522 [GRCh38]
Chr10:79737280 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104794]|not provided [RCV001856411] Chr10:77981532 [GRCh38]
Chr10:79741290 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104795] Chr10:77981533 [GRCh38]
Chr10:79741291 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001104797]|not provided [RCV001551490] Chr10:77982215 [GRCh38]
Chr10:79741973 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-6C>G single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001254101]|not provided [RCV001268248] Chr10:78009681 [GRCh38]
Chr10:79769439 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic
NM_007055.4(POLR3A):c.3759+191G>A single nucleotide variant not provided [RCV001765917] Chr10:77981963 [GRCh38]
Chr10:79741721 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3759+265dup duplication not provided [RCV001663210] Chr10:77981868..77981869 [GRCh38]
Chr10:79741626..79741627 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1186-5T>G single nucleotide variant not provided [RCV001907632] Chr10:78019270 [GRCh38]
Chr10:79779028 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331683] Chr10:78024617 [GRCh38]
Chr10:79784375 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) microsatellite not provided [RCV001267909] Chr10:77980220..77980221 [GRCh38]
Chr10:79739978..79739979 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs) microsatellite not provided [RCV001268126] Chr10:78009549..78009550 [GRCh38]
Chr10:79769307..79769308 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter) single nucleotide variant not provided [RCV001268335] Chr10:78021897 [GRCh38]
Chr10:79781655 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) single nucleotide variant not provided [RCV001268447] Chr10:78026183 [GRCh38]
Chr10:79785941 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.706C>G (p.Pro236Ala) single nucleotide variant not provided [RCV001889042] Chr10:78022324 [GRCh38]
Chr10:79782082 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1572+1G>T single nucleotide variant not provided [RCV001268116] Chr10:78013649 [GRCh38]
Chr10:79773407 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331680] Chr10:77984258 [GRCh38]
Chr10:79744016 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331681] Chr10:77982236 [GRCh38]
Chr10:79741994 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter) single nucleotide variant not provided [RCV001268557] Chr10:78001076 [GRCh38]
Chr10:79760834 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1431+209C>T single nucleotide variant not provided [RCV001765894] Chr10:78017366 [GRCh38]
Chr10:79777124 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3521G>A (p.Cys1174Tyr) single nucleotide variant not provided [RCV001351033] Chr10:77982726 [GRCh38]
Chr10:79742484 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001337042] Chr10:78021884 [GRCh38]
Chr10:79781642 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001337045] Chr10:77980153 [GRCh38]
Chr10:79739911 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs) deletion Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001337043] Chr10:78002227..78002233 [GRCh38]
Chr10:79761985..79761991 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2616+313G>T single nucleotide variant not provided [RCV001642040] Chr10:77999668 [GRCh38]
Chr10:79759426 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1910-1G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001807924] Chr10:78007867 [GRCh38]
Chr10:79767625 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1744C>T (p.Arg582Cys) single nucleotide variant not provided [RCV001372790] Chr10:78009890 [GRCh38]
Chr10:79769648 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) single nucleotide variant not provided [RCV001269672] Chr10:77982258 [GRCh38]
Chr10:79742016 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331677] Chr10:78000104 [GRCh38]
Chr10:79759862 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331682] Chr10:77982180 [GRCh38]
Chr10:79741938 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3250A>G (p.Ile1084Val) single nucleotide variant not provided [RCV001373570] Chr10:77984291 [GRCh38]
Chr10:79744049 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2902-102A>G single nucleotide variant not provided [RCV001536324] Chr10:77986261 [GRCh38]
Chr10:79746019 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1177C>T (p.Pro393Ser) single nucleotide variant not provided [RCV001343406] Chr10:78021554 [GRCh38]
Chr10:79781312 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.-15C>T single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001330344] Chr10:78029422 [GRCh38]
Chr10:79789180 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001330345]|not provided [RCV001820022] Chr10:78002206 [GRCh38]
Chr10:79761964 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3499G>C (p.Val1167Leu) single nucleotide variant POLR3A-related neurological disorders [RCV001563639]|not provided [RCV001300726] Chr10:77982748 [GRCh38]
Chr10:79742506 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001331678]|not provided [RCV001871820] Chr10:77993298 [GRCh38]
Chr10:79753056 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1960A>G (p.Thr654Ala) single nucleotide variant not provided [RCV001373370] Chr10:78007816 [GRCh38]
Chr10:79767574 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3286G>C (p.Asp1096His) single nucleotide variant not provided [RCV001306452] Chr10:77984255 [GRCh38]
Chr10:79744013 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001330346] Chr10:78001031 [GRCh38]
Chr10:79760789 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541999]|not provided [RCV001359714] Chr10:78000055 [GRCh38]
Chr10:79759813 [GRCh37]
Chr10:10q22.3
pathogenic|uncertain significance|not provided
NM_007055.4(POLR3A):c.4025-4T>C single nucleotide variant not provided [RCV001474056] Chr10:77977630 [GRCh38]
Chr10:79737388 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3759+17G>A single nucleotide variant not provided [RCV001500422] Chr10:77982137 [GRCh38]
Chr10:79741895 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-5C>T single nucleotide variant not provided [RCV001467573] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1573-18C>T single nucleotide variant not provided [RCV001449093] Chr10:78010558 [GRCh38]
Chr10:79770316 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1048+1G>A single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541978] Chr10:78021859 [GRCh38]
Chr10:79781617 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541979] Chr10:78021571 [GRCh38]
Chr10:79781329 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541985] Chr10:78026105 [GRCh38]
Chr10:79785863 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541987] Chr10:78009651 [GRCh38]
Chr10:79769409 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541991] Chr10:78007841 [GRCh38]
Chr10:79767599 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541993]|not provided [RCV001821862] Chr10:78007765 [GRCh38]
Chr10:79767523 [GRCh37]
Chr10:10q22.3
pathogenic|likely pathogenic|not provided
NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541994] Chr10:78007737 [GRCh38]
Chr10:79767495 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001541998] Chr10:78001043 [GRCh38]
Chr10:79760801 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2549A>G (p.His850Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542001] Chr10:78000048 [GRCh38]
Chr10:79759806 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542007] Chr10:77991134 [GRCh38]
Chr10:79750892 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs) indel Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001542017] Chr10:78024641..78024642 [GRCh38]
Chr10:79784399..79784400 [GRCh37]
Chr10:10q22.3
pathogenic|not provided
NM_007055.4(POLR3A):c.3594+14C>T single nucleotide variant not provided [RCV001410737] Chr10:77982639 [GRCh38]
Chr10:79742397 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1185+107dup duplication not provided [RCV001535016] Chr10:78021437..78021438 [GRCh38]
Chr10:79781195..79781196 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2901+166T>C single nucleotide variant not provided [RCV001536171] Chr10:77990888 [GRCh38]
Chr10:79750646 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.273G>A (p.Pro91=) single nucleotide variant not provided [RCV001482657] Chr10:78025667 [GRCh38]
Chr10:79785425 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4073G>A (p.Gly1358Glu) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001647197] Chr10:77977578 [GRCh38]
Chr10:79737336 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.645+160dup duplication not provided [RCV001715559] Chr10:78024370..78024371 [GRCh38]
Chr10:79784128..79784129 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.2788-294C>T single nucleotide variant not provided [RCV001710120] Chr10:77991461 [GRCh38]
Chr10:79751219 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.44+294A>G single nucleotide variant not provided [RCV001696442] Chr10:78029070 [GRCh38]
Chr10:79788828 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3760-91C>T single nucleotide variant not provided [RCV001652432] Chr10:77981650 [GRCh38]
Chr10:79741408 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) single nucleotide variant not provided [RCV001481352] Chr10:78009905 [GRCh38]
Chr10:79769663 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.180+20C>T single nucleotide variant not provided [RCV001512590] Chr10:78026074 [GRCh38]
Chr10:79785832 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.45-19C>G single nucleotide variant not provided [RCV001520426] Chr10:78026248 [GRCh38]
Chr10:79786006 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.3760-13T>C single nucleotide variant not provided [RCV001487430] Chr10:77981572 [GRCh38]
Chr10:79741330 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.885+19C>G single nucleotide variant not provided [RCV001512932] Chr10:78022126 [GRCh38]
Chr10:79781884 [GRCh37]
Chr10:10q22.3
benign|likely benign
NM_007055.4(POLR3A):c.319-19C>A single nucleotide variant not provided [RCV001509807] Chr10:78025161 [GRCh38]
Chr10:79784919 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1771-11dup duplication not provided [RCV001515277] Chr10:78009679..78009680 [GRCh38]
Chr10:79769437..79769438 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1643-118C>T single nucleotide variant not provided [RCV001732668] Chr10:78010109 [GRCh38]
Chr10:79769867 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3760-151C>T single nucleotide variant not provided [RCV001732687] Chr10:77981710 [GRCh38]
Chr10:79741468 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4024+271G>T single nucleotide variant not provided [RCV001732777] Chr10:77979870 [GRCh38]
Chr10:79739628 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2247+27C>T single nucleotide variant not provided [RCV001732543] Chr10:78004689 [GRCh38]
Chr10:79764447 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser) single nucleotide variant not provided [RCV001726821] Chr10:78000076 [GRCh38]
Chr10:79759834 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3337-30G>A single nucleotide variant not provided [RCV001726820] Chr10:77984042 [GRCh38]
Chr10:79743800 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1431+128del deletion not provided [RCV001732620] Chr10:78017447 [GRCh38]
Chr10:79777205 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3759+284_3759+285dup duplication not provided [RCV001732651] Chr10:77981868..77981869 [GRCh38]
Chr10:79741626..79741627 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3242+111A>G single nucleotide variant not provided [RCV001732773] Chr10:77985059 [GRCh38]
Chr10:79744817 [GRCh37]
Chr10:10q22.3
likely benign
Single allele deletion not provided [RCV001732418] Chr10:78029613..78029614 [GRCh38]
Chr10:79789371..79789372 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3891+225C>G single nucleotide variant not provided [RCV001779895] Chr10:77981203 [GRCh38]
Chr10:79740961 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3595-32G>A single nucleotide variant not provided [RCV002244605] Chr10:77982350 [GRCh38]
Chr10:79742108 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3100G>T (p.Gly1034Cys) single nucleotide variant not provided [RCV001762760] Chr10:77985312 [GRCh38]
Chr10:79745070 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.929G>A (p.Trp310Ter) single nucleotide variant not provided [RCV001782669] Chr10:78021979 [GRCh38]
Chr10:79781737 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.3864G>A (p.Met1288Ile) single nucleotide variant not provided [RCV001757195] Chr10:77981455 [GRCh38]
Chr10:79741213 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1907C>T (p.Ser636Phe) single nucleotide variant Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001762013] Chr10:78009539 [GRCh38]
Chr10:79769297 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1029A>T (p.Gln343His) single nucleotide variant not provided [RCV001767032] Chr10:78021879 [GRCh38]
Chr10:79781637 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.319-125C>A single nucleotide variant not provided [RCV001732974] Chr10:78025267 [GRCh38]
Chr10:79785025 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2470C>T (p.His824Tyr) single nucleotide variant not provided [RCV001764105] Chr10:78000984 [GRCh38]
Chr10:79760742 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1770+78C>A single nucleotide variant not provided [RCV001786005] Chr10:78009786 [GRCh38]
Chr10:79769544 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2989-40C>A single nucleotide variant not provided [RCV001786095] Chr10:77986025 [GRCh38]
Chr10:79745783 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2902-101A>G single nucleotide variant not provided [RCV001786177] Chr10:77986260 [GRCh38]
Chr10:79746018 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1229dup (p.Asn410fs) duplication not provided [RCV001784868] Chr10:78019221..78019222 [GRCh38]
Chr10:79778979..79778980 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2988+1G>A single nucleotide variant not provided [RCV001784869] Chr10:77986072 [GRCh38]
Chr10:79745830 [GRCh37]
Chr10:10q22.3
pathogenic
Single allele single nucleotide variant not provided [RCV001787496] Chr10:78029831 [GRCh38]
Chr10:79789589 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.646-316C>T single nucleotide variant not provided [RCV001787663] Chr10:78022700 [GRCh38]
Chr10:79782458 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.645+30G>A single nucleotide variant not provided [RCV001794690] Chr10:78024519 [GRCh38]
Chr10:79784277 [GRCh37]
Chr10:10q22.3
likely benign
Single allele single nucleotide variant not provided [RCV001786107] Chr10:78029687 [GRCh38]
Chr10:79789445 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1802T>A (p.Phe601Tyr) single nucleotide variant not provided [RCV001752199] Chr10:78009644 [GRCh38]
Chr10:79769402 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.645+71TC[2] microsatellite not provided [RCV001786290] Chr10:78024473..78024474 [GRCh38]
Chr10:79784231..79784232 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.200G>A (p.Arg67His) single nucleotide variant not provided [RCV001752329] Chr10:78025740 [GRCh38]
Chr10:79785498 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1431+323G>A single nucleotide variant not provided [RCV001800087] Chr10:78017252 [GRCh38]
Chr10:79777010 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3759+36G>C single nucleotide variant not provided [RCV001733249] Chr10:77982118 [GRCh38]
Chr10:79741876 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1573-1G>A single nucleotide variant not provided [RCV001782670] Chr10:78010541 [GRCh38]
Chr10:79770299 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.1186-69G>A single nucleotide variant not provided [RCV001794602] Chr10:78019334 [GRCh38]
Chr10:79779092 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2360-341C>G single nucleotide variant not provided [RCV001787661] Chr10:78001435 [GRCh38]
Chr10:79761193 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1734A>T (p.Lys578Asn) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001788844]|not provided [RCV001868887] Chr10:78009900 [GRCh38]
Chr10:79769658 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1573-115C>T single nucleotide variant not provided [RCV001787015] Chr10:78010655 [GRCh38]
Chr10:79770413 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu) single nucleotide variant POLR3A-related neurological disorders [RCV001795565]|not provided [RCV002290764] Chr10:77985960 [GRCh38]
Chr10:79745718 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln) single nucleotide variant POLR3A-related neurological disorders [RCV001795566]|not provided [RCV002290765] Chr10:77993312 [GRCh38]
Chr10:79753070 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3429+233G>A single nucleotide variant not provided [RCV001800037] Chr10:77983687 [GRCh38]
Chr10:79743445 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3594+77T>C single nucleotide variant not provided [RCV001733472] Chr10:77982576 [GRCh38]
Chr10:79742334 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2478+157G>A single nucleotide variant not provided [RCV001733501] Chr10:78000819 [GRCh38]
Chr10:79760577 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3206G>T (p.Arg1069Leu) single nucleotide variant not provided [RCV001757185] Chr10:77985206 [GRCh38]
Chr10:79744964 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3350T>C (p.Ile1117Thr) single nucleotide variant Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome [RCV001788851] Chr10:77983999 [GRCh38]
Chr10:79743757 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1185+81A>C single nucleotide variant not provided [RCV001777018] Chr10:78021465 [GRCh38]
Chr10:79781223 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4024+102G>A single nucleotide variant not provided [RCV001733256] Chr10:77980039 [GRCh38]
Chr10:79739797 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3072-274G>C single nucleotide variant not provided [RCV001733504] Chr10:77985614 [GRCh38]
Chr10:79745372 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met) single nucleotide variant not provided [RCV001869632]|not specified [RCV001815121] Chr10:78009659 [GRCh38]
Chr10:79769417 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2360-189G>A single nucleotide variant not provided [RCV001806659] Chr10:78001283 [GRCh38]
Chr10:79761041 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1807G>A (p.Val603Ile) single nucleotide variant not provided [RCV002025900] Chr10:78009639 [GRCh38]
Chr10:79769397 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2306G>A (p.Arg769Gln) single nucleotide variant not provided [RCV001863451] Chr10:78002250 [GRCh38]
Chr10:79762008 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3971C>T (p.Thr1324Met) single nucleotide variant not provided [RCV001873960] Chr10:77980194 [GRCh38]
Chr10:79739952 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.491-5T>C single nucleotide variant not provided [RCV002044868] Chr10:78024708 [GRCh38]
Chr10:79784466 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2924G>A (p.Gly975Glu) single nucleotide variant not provided [RCV001911542] Chr10:77986137 [GRCh38]
Chr10:79745895 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4169C>T (p.Thr1390Ile) single nucleotide variant not provided [RCV002022658] Chr10:77977482 [GRCh38]
Chr10:79737240 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.91C>G (p.Gln31Glu) single nucleotide variant not provided [RCV002044668] Chr10:78026183 [GRCh38]
Chr10:79785941 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3068T>G (p.Met1023Arg) single nucleotide variant not provided [RCV001926859] Chr10:77985906 [GRCh38]
Chr10:79745664 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4149A>T (p.Glu1383Asp) single nucleotide variant not provided [RCV001947521] Chr10:77977502 [GRCh38]
Chr10:79737260 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3242+64C>T single nucleotide variant not provided [RCV001837155] Chr10:77985106 [GRCh38]
Chr10:79744864 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.44+6A>G single nucleotide variant not provided [RCV001863769] Chr10:78029358 [GRCh38]
Chr10:79789116 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4038C>G (p.Cys1346Trp) single nucleotide variant not provided [RCV001895108] Chr10:77977613 [GRCh38]
Chr10:79737371 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2862G>C (p.Lys954Asn) single nucleotide variant not provided [RCV001874370] Chr10:77991093 [GRCh38]
Chr10:79750851 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1208T>G (p.Phe403Cys) single nucleotide variant not provided [RCV001966579] Chr10:78019243 [GRCh38]
Chr10:79779001 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2101G>T (p.Gly701Cys) single nucleotide variant not provided [RCV001889427] Chr10:78004862 [GRCh38]
Chr10:79764620 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2300G>T (p.Cys767Phe) single nucleotide variant not provided [RCV001970918] Chr10:78002256 [GRCh38]
Chr10:79762014 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3839T>C (p.Met1280Thr) single nucleotide variant not provided [RCV001896472] Chr10:77981480 [GRCh38]
Chr10:79741238 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2232T>A (p.Ala744=) single nucleotide variant not provided [RCV001874730] Chr10:78004731 [GRCh38]
Chr10:79764489 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.887A>T (p.His296Leu) single nucleotide variant not provided [RCV001970963] Chr10:78022021 [GRCh38]
Chr10:79781779 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1567A>C (p.Met523Leu) single nucleotide variant not provided [RCV001929181] Chr10:78013655 [GRCh38]
Chr10:79773413 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4036T>A (p.Cys1346Ser) single nucleotide variant not provided [RCV001914778] Chr10:77977615 [GRCh38]
Chr10:79737373 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.128G>A (p.Ser43Asn) single nucleotide variant not provided [RCV001988044] Chr10:78026146 [GRCh38]
Chr10:79785904 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1737T>G (p.Ile579Met) single nucleotide variant not provided [RCV002008234] Chr10:78009897 [GRCh38]
Chr10:79769655 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79737218)_(79762086_?)dup duplication not provided [RCV001967717] Chr10:79737218..79762086 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs) insertion not provided [RCV002002565] Chr10:78026126..78026127 [GRCh38]
Chr10:79785884..79785885 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2977G>C (p.Gly993Arg) single nucleotide variant not provided [RCV002003680] Chr10:77986084 [GRCh38]
Chr10:79745842 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.112del (p.Ser38fs) deletion not provided [RCV001967663] Chr10:78026162 [GRCh38]
Chr10:79785920 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3343G>A (p.Glu1115Lys) single nucleotide variant not provided [RCV001927282] Chr10:77984006 [GRCh38]
Chr10:79743764 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.340C>T (p.His114Tyr) single nucleotide variant not provided [RCV001910275] Chr10:78025121 [GRCh38]
Chr10:79784879 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1908C>T (p.Ser636=) single nucleotide variant not provided [RCV002005043] Chr10:78009538 [GRCh38]
Chr10:79769296 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1788G>A (p.Thr596=) single nucleotide variant not provided [RCV002004075] Chr10:78009658 [GRCh38]
Chr10:79769416 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2969A>G (p.Asn990Ser) single nucleotide variant not provided [RCV001945608] Chr10:77986092 [GRCh38]
Chr10:79745850 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3755A>G (p.Tyr1252Cys) single nucleotide variant not provided [RCV002003560] Chr10:77982158 [GRCh38]
Chr10:79741916 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1461A>T (p.Arg487Ser) single nucleotide variant not provided [RCV001908706] Chr10:78013761 [GRCh38]
Chr10:79773519 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter) single nucleotide variant not provided [RCV001871300] Chr10:78017613 [GRCh38]
Chr10:79777371 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1289+203T>A single nucleotide variant not provided [RCV001843639] Chr10:78018959 [GRCh38]
Chr10:79778717 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3746A>G (p.Asn1249Ser) single nucleotide variant not provided [RCV002039471] Chr10:77982167 [GRCh38]
Chr10:79741925 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3072G>A (p.Arg1024=) single nucleotide variant not provided [RCV001892733] Chr10:77985340 [GRCh38]
Chr10:79745098 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3835G>A (p.Gly1279Ser) single nucleotide variant not provided [RCV001985587] Chr10:77981484 [GRCh38]
Chr10:79741242 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3347A>G (p.Tyr1116Cys) single nucleotide variant not provided [RCV002044251] Chr10:77984002 [GRCh38]
Chr10:79743760 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.73C>T (p.Pro25Ser) single nucleotide variant not provided [RCV001986061] Chr10:78026201 [GRCh38]
Chr10:79785959 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79780889)_(79784717_?)del deletion not provided [RCV001970230] Chr10:79780889..79784717 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.2062C>T (p.Pro688Ser) single nucleotide variant not provided [RCV001948833] Chr10:78007714 [GRCh38]
Chr10:79767472 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1271G>T (p.Arg424Ile) single nucleotide variant not provided [RCV001912908] Chr10:78019180 [GRCh38]
Chr10:79778938 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.758C>A (p.Thr253Lys) single nucleotide variant not provided [RCV001889450] Chr10:78022272 [GRCh38]
Chr10:79782030 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.295A>G (p.Arg99Gly) single nucleotide variant not provided [RCV001910328] Chr10:78025645 [GRCh38]
Chr10:79785403 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2794T>C (p.Phe932Leu) single nucleotide variant not provided [RCV001894831] Chr10:77991161 [GRCh38]
Chr10:79750919 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2479-182T>C single nucleotide variant not provided [RCV001843640] Chr10:78000300 [GRCh38]
Chr10:79760058 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2167A>C (p.Lys723Gln) single nucleotide variant not provided [RCV001914138] Chr10:78004796 [GRCh38]
Chr10:79764554 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.259G>A (p.Asp87Asn) single nucleotide variant not provided [RCV002004647] Chr10:78025681 [GRCh38]
Chr10:79785439 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2812C>T (p.Pro938Ser) single nucleotide variant not provided [RCV001984162] Chr10:77991143 [GRCh38]
Chr10:79750901 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.342C>A (p.His114Gln) single nucleotide variant not provided [RCV002041167] Chr10:78025119 [GRCh38]
Chr10:79784877 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.556G>A (p.Val186Met) single nucleotide variant not provided [RCV001987120] Chr10:78024638 [GRCh38]
Chr10:79784396 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.232G>A (p.Asp78Asn) single nucleotide variant not provided [RCV001890409] Chr10:78025708 [GRCh38]
Chr10:79785466 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1046_1047del (p.Gln349fs) deletion Neonatal pseudo-hydrocephalic progeroid syndrome [RCV001836686] Chr10:78021861..78021862 [GRCh38]
Chr10:79781619..79781620 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV001948715] Chr10:78025009 [GRCh38]
Chr10:79784767 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3791G>A (p.Arg1264Gln) single nucleotide variant not provided [RCV001946057] Chr10:77981528 [GRCh38]
Chr10:79741286 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2006G>A (p.Arg669Gln) single nucleotide variant not provided [RCV001982802] Chr10:78007770 [GRCh38]
Chr10:79767528 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3562G>C (p.Val1188Leu) single nucleotide variant not provided [RCV002022521] Chr10:77982685 [GRCh38]
Chr10:79742443 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1622C>G (p.Ala541Gly) single nucleotide variant not provided [RCV001889233] Chr10:78010491 [GRCh38]
Chr10:79770249 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.596C>T (p.Thr199Ile) single nucleotide variant not provided [RCV001889902] Chr10:78024598 [GRCh38]
Chr10:79784356 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.819C>T (p.Gly273=) single nucleotide variant not provided [RCV001894271] Chr10:78022211 [GRCh38]
Chr10:79781969 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3385C>T (p.Leu1129Phe) single nucleotide variant not provided [RCV001890191] Chr10:77983964 [GRCh38]
Chr10:79743722 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3815A>G (p.Gln1272Arg) single nucleotide variant not provided [RCV002020508] Chr10:77981504 [GRCh38]
Chr10:79741262 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4024+165A>G single nucleotide variant not provided [RCV001847424] Chr10:77979976 [GRCh38]
Chr10:79739734 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3496G>A (p.Ala1166Thr) single nucleotide variant not provided [RCV001969327] Chr10:77982751 [GRCh38]
Chr10:79742509 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3190del (p.Thr1064fs) deletion not provided [RCV001948520] Chr10:77985222 [GRCh38]
Chr10:79744980 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.4044C>G (p.Ile1348Met) single nucleotide variant not provided [RCV002043438] Chr10:77977607 [GRCh38]
Chr10:79737365 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2163C>A (p.Tyr721Ter) single nucleotide variant not provided [RCV001946692] Chr10:78004800 [GRCh38]
Chr10:79764558 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1277C>A (p.Thr426Lys) single nucleotide variant not provided [RCV002036983] Chr10:78019174 [GRCh38]
Chr10:79778932 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2611A>C (p.Met871Leu) single nucleotide variant not provided [RCV001961871] Chr10:77999986 [GRCh38]
Chr10:79759744 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3134G>C (p.Gly1045Ala) single nucleotide variant not provided [RCV001938484] Chr10:77985278 [GRCh38]
Chr10:79745036 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3198C>T (p.Gly1066=) single nucleotide variant not provided [RCV001884502] Chr10:77985214 [GRCh38]
Chr10:79744972 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2434G>A (p.Gly812Ser) single nucleotide variant not provided [RCV001906168] Chr10:78001020 [GRCh38]
Chr10:79760778 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4024+193G>A single nucleotide variant not provided [RCV002034778] Chr10:77979948 [GRCh38]
Chr10:79739706 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.476G>A (p.Cys159Tyr) single nucleotide variant not provided [RCV001925048] Chr10:78024985 [GRCh38]
Chr10:79784743 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2092A>G (p.Ile698Val) single nucleotide variant not provided [RCV001999545] Chr10:78004871 [GRCh38]
Chr10:79764629 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.40A>G (p.Lys14Glu) single nucleotide variant not provided [RCV001998330] Chr10:78029368 [GRCh38]
Chr10:79789126 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3840G>A (p.Met1280Ile) single nucleotide variant not provided [RCV001975970] Chr10:77981479 [GRCh38]
Chr10:79741237 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3891+2T>C single nucleotide variant not provided [RCV002000594] Chr10:77981426 [GRCh38]
Chr10:79741184 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2888A>T (p.Asp963Val) single nucleotide variant not provided [RCV001866641] Chr10:77991067 [GRCh38]
Chr10:79750825 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3406C>T (p.Arg1136Trp) single nucleotide variant not provided [RCV002037371] Chr10:77983943 [GRCh38]
Chr10:79743701 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1862G>A (p.Gly621Asp) single nucleotide variant not provided [RCV001888343] Chr10:78009584 [GRCh38]
Chr10:79769342 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.835C>G (p.Leu279Val) single nucleotide variant not provided [RCV001963603] Chr10:78022195 [GRCh38]
Chr10:79781953 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79778900)_(79799964_?)dup duplication not provided [RCV001942994] Chr10:79778900..79799964 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1310G>A (p.Arg437Gln) single nucleotide variant not provided [RCV001981781] Chr10:78017696 [GRCh38]
Chr10:79777454 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3487G>A (p.Gly1163Ser) single nucleotide variant not provided [RCV001942578] Chr10:77982760 [GRCh38]
Chr10:79742518 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1882G>T (p.Gly628Trp) single nucleotide variant not provided [RCV001943001] Chr10:78009564 [GRCh38]
Chr10:79769322 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3527C>T (p.Thr1176Ile) single nucleotide variant not provided [RCV002036319] Chr10:77982720 [GRCh38]
Chr10:79742478 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1126C>T (p.Arg376Trp) single nucleotide variant not provided [RCV001979661] Chr10:78021605 [GRCh38]
Chr10:79781363 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.185C>T (p.Thr62Met) single nucleotide variant not provided [RCV001886561] Chr10:78025755 [GRCh38]
Chr10:79785513 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2077A>G (p.Asn693Asp) single nucleotide variant not provided [RCV001901627] Chr10:78004886 [GRCh38]
Chr10:79764644 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.271C>T (p.Pro91Ser) single nucleotide variant not provided [RCV001993542] Chr10:78025669 [GRCh38]
Chr10:79785427 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2926G>A (p.Val976Ile) single nucleotide variant not provided [RCV001931160] Chr10:77986135 [GRCh38]
Chr10:79745893 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2658T>A (p.Tyr886Ter) single nucleotide variant not provided [RCV001933597] Chr10:77993326 [GRCh38]
Chr10:79753084 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1608dup (p.Pro537fs) duplication not provided [RCV001989740] Chr10:78010504..78010505 [GRCh38]
Chr10:79770262..79770263 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.626C>T (p.Pro209Leu) single nucleotide variant not provided [RCV001898028] Chr10:78024568 [GRCh38]
Chr10:79784326 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3269A>G (p.Asp1090Gly) single nucleotide variant not provided [RCV001936379] Chr10:77984272 [GRCh38]
Chr10:79744030 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3700G>A (p.Ala1234Thr) single nucleotide variant not provided [RCV002010649] Chr10:77982213 [GRCh38]
Chr10:79741971 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2257_2278dup (p.Arg760fs) duplication not provided [RCV001883004] Chr10:78002277..78002278 [GRCh38]
Chr10:79762035..79762036 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3247C>G (p.Pro1083Ala) single nucleotide variant not provided [RCV002010766] Chr10:77984294 [GRCh38]
Chr10:79744052 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3234G>A (p.Lys1078=) single nucleotide variant not provided [RCV001990178] Chr10:77985178 [GRCh38]
Chr10:79744936 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3646G>C (p.Glu1216Gln) single nucleotide variant not provided [RCV002011906] Chr10:77982267 [GRCh38]
Chr10:79742025 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.146C>A (p.Ala49Asp) single nucleotide variant not provided [RCV001919428] Chr10:78026128 [GRCh38]
Chr10:79785886 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3598G>A (p.Val1200Met) single nucleotide variant not provided [RCV002012353] Chr10:77982315 [GRCh38]
Chr10:79742073 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1999T>G (p.Leu667Val) single nucleotide variant not provided [RCV002014731] Chr10:78007777 [GRCh38]
Chr10:79767535 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3701C>G (p.Ala1234Gly) single nucleotide variant not provided [RCV001920985] Chr10:77982212 [GRCh38]
Chr10:79741970 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1610C>T (p.Pro537Leu) single nucleotide variant not provided [RCV001878114] Chr10:78010503 [GRCh38]
Chr10:79770261 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1771-5C>A single nucleotide variant not provided [RCV002026631] Chr10:78009680 [GRCh38]
Chr10:79769438 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2120A>G (p.Gln707Arg) single nucleotide variant not provided [RCV001898966] Chr10:78004843 [GRCh38]
Chr10:79764601 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.545A>G (p.Asn182Ser) single nucleotide variant not provided [RCV001877293] Chr10:78024649 [GRCh38]
Chr10:79784407 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2564G>A (p.Arg855Gln) single nucleotide variant not provided [RCV001989613] Chr10:78000033 [GRCh38]
Chr10:79759791 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2284C>T (p.His762Tyr) single nucleotide variant not provided [RCV001990967] Chr10:78002272 [GRCh38]
Chr10:79762030 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3594G>A (p.Lys1198=) single nucleotide variant not provided [RCV001916340] Chr10:77982653 [GRCh38]
Chr10:79742411 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3778A>G (p.Ile1260Val) single nucleotide variant not provided [RCV002047981] Chr10:77981541 [GRCh38]
Chr10:79741299 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3609_3611del (p.Ile1204del) deletion not provided [RCV002049265] Chr10:77982302..77982304 [GRCh38]
Chr10:79742060..79742062 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1945A>G (p.Ser649Gly) single nucleotide variant not provided [RCV002026857] Chr10:78007831 [GRCh38]
Chr10:79767589 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1948A>G (p.Met650Val) single nucleotide variant not provided [RCV001975293] Chr10:78007828 [GRCh38]
Chr10:79767586 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp) single nucleotide variant not provided [RCV001960343] Chr10:78000034 [GRCh38]
Chr10:79759792 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.4141A>G (p.Thr1381Ala) single nucleotide variant not provided [RCV001961018] Chr10:77977510 [GRCh38]
Chr10:79737268 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2854A>G (p.Ile952Val) single nucleotide variant not provided [RCV001924636] Chr10:77991101 [GRCh38]
Chr10:79750859 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3472C>T (p.Leu1158Phe) single nucleotide variant not provided [RCV001995939] Chr10:77982775 [GRCh38]
Chr10:79742533 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.52A>G (p.Ile18Val) single nucleotide variant not provided [RCV002017246] Chr10:78026222 [GRCh38]
Chr10:79785980 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1576A>G (p.Lys526Glu) single nucleotide variant not provided [RCV002035737] Chr10:78010537 [GRCh38]
Chr10:79770295 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3806A>G (p.Asn1269Ser) single nucleotide variant not provided [RCV001896965] Chr10:77981513 [GRCh38]
Chr10:79741271 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1345A>G (p.Ile449Val) single nucleotide variant not provided [RCV001971927] Chr10:78017661 [GRCh38]
Chr10:79777419 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2551A>G (p.Thr851Ala) single nucleotide variant not provided [RCV001915753] Chr10:78000046 [GRCh38]
Chr10:79759804 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3064T>C (p.Tyr1022His) single nucleotide variant not provided [RCV001981449] Chr10:77985910 [GRCh38]
Chr10:79745668 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1366G>A (p.Asp456Asn) single nucleotide variant not provided [RCV002027582] Chr10:78017640 [GRCh38]
Chr10:79777398 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1024G>A (p.Val342Ile) single nucleotide variant not provided [RCV001923574] Chr10:78021884 [GRCh38]
Chr10:79781642 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.953C>A (p.Ala318Asp) single nucleotide variant not provided [RCV001972087] Chr10:78021955 [GRCh38]
Chr10:79781713 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1770+1G>A single nucleotide variant not provided [RCV002033372] Chr10:78009863 [GRCh38]
Chr10:79769621 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.2897T>G (p.Leu966Arg) single nucleotide variant not provided [RCV001998557] Chr10:77991058 [GRCh38]
Chr10:79750816 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1736_1738dup (p.Ile579dup) duplication not provided [RCV001922043] Chr10:78009895..78009896 [GRCh38]
Chr10:79769653..79769654 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer) duplication not provided [RCV001939466] Chr10:77982221..77982222 [GRCh38]
Chr10:79741979..79741980 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.604G>C (p.Glu202Gln) single nucleotide variant not provided [RCV001883105] Chr10:78024590 [GRCh38]
Chr10:79784348 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3892-3C>G single nucleotide variant not provided [RCV001926180] Chr10:77980276 [GRCh38]
Chr10:79740034 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1976C>T (p.Ser659Phe) single nucleotide variant not provided [RCV002049204] Chr10:78007800 [GRCh38]
Chr10:79767558 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_79781284)_(79782162_?)del deletion not provided [RCV001951505] Chr10:79781284..79782162 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.1909T>C (p.Tyr637His) single nucleotide variant not provided [RCV001992498] Chr10:78009537 [GRCh38]
Chr10:79769295 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.310A>G (p.Ile104Val) single nucleotide variant not provided [RCV002047622] Chr10:78025630 [GRCh38]
Chr10:79785388 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3371A>G (p.Asp1124Gly) single nucleotide variant not provided [RCV002034194] Chr10:77983978 [GRCh38]
Chr10:79743736 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2158G>A (p.Gly720Ser) single nucleotide variant not provided [RCV001938326] Chr10:78004805 [GRCh38]
Chr10:79764563 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2787+1G>A single nucleotide variant not provided [RCV002017280] Chr10:77993196 [GRCh38]
Chr10:79752954 [GRCh37]
Chr10:10q22.3
likely pathogenic
NM_007055.4(POLR3A):c.234C>A (p.Asp78Glu) single nucleotide variant not provided [RCV001937966] Chr10:78025706 [GRCh38]
Chr10:79785464 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.229G>T (p.Ala77Ser) single nucleotide variant not provided [RCV001903594] Chr10:78025711 [GRCh38]
Chr10:79785469 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.318+5G>A single nucleotide variant not provided [RCV002033842] Chr10:78025617 [GRCh38]
Chr10:79785375 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.397G>A (p.Gly133Ser) single nucleotide variant not provided [RCV001996649] Chr10:78025064 [GRCh38]
Chr10:79784822 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.50A>G (p.His17Arg) single nucleotide variant not provided [RCV001981828] Chr10:78026224 [GRCh38]
Chr10:79785982 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2080C>T (p.Arg694Cys) single nucleotide variant not provided [RCV001924389] Chr10:78004883 [GRCh38]
Chr10:79764641 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2478G>C (p.Lys826Asn) single nucleotide variant not provided [RCV001960413] Chr10:78000976 [GRCh38]
Chr10:79760734 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter) single nucleotide variant not provided [RCV001939006] Chr10:77982244 [GRCh38]
Chr10:79742002 [GRCh37]
Chr10:10q22.3
pathogenic
NM_007055.4(POLR3A):c.3221T>C (p.Ile1074Thr) single nucleotide variant not provided [RCV002036242] Chr10:77985191 [GRCh38]
Chr10:79744949 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2227A>G (p.Thr743Ala) single nucleotide variant not provided [RCV001867791] Chr10:78004736 [GRCh38]
Chr10:79764494 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.145G>A (p.Ala49Thr) single nucleotide variant not provided [RCV001998219] Chr10:78026129 [GRCh38]
Chr10:79785887 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1262T>C (p.Ile421Thr) single nucleotide variant not provided [RCV001915732] Chr10:78019189 [GRCh38]
Chr10:79778947 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2979C>T (p.Gly993=) single nucleotide variant not provided [RCV002050712] Chr10:77986082 [GRCh38]
Chr10:79745840 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.158A>T (p.Tyr53Phe) single nucleotide variant not provided [RCV001922825] Chr10:78026116 [GRCh38]
Chr10:79785874 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1588G>A (p.Val530Ile) single nucleotide variant not provided [RCV002011855] Chr10:78010525 [GRCh38]
Chr10:79770283 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2207T>C (p.Leu736Pro) single nucleotide variant not provided [RCV001899429] Chr10:78004756 [GRCh38]
Chr10:79764514 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.1853G>A (p.Arg618Gln) single nucleotide variant not provided [RCV001918152] Chr10:78009593 [GRCh38]
Chr10:79769351 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.2200G>A (p.Gly734Ser) single nucleotide variant not provided [RCV001916428] Chr10:78004763 [GRCh38]
Chr10:79764521 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.3071+18T>C single nucleotide variant not provided [RCV002128660] Chr10:77985885 [GRCh38]
Chr10:79745643 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.384T>C (p.Tyr128=) single nucleotide variant not provided [RCV002185996] Chr10:78025077 [GRCh38]
Chr10:79784835 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1289+10del deletion not provided [RCV002185714] Chr10:78019152 [GRCh38]
Chr10:79778910 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1770+16G>A single nucleotide variant not provided [RCV002191082] Chr10:78009848 [GRCh38]
Chr10:79769606 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-11C>A single nucleotide variant not provided [RCV002190614] Chr10:78009686 [GRCh38]
Chr10:79769444 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3345G>A (p.Glu1115=) single nucleotide variant not provided [RCV002072480] Chr10:77984004 [GRCh38]
Chr10:79743762 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.120C>T (p.Asn40=) single nucleotide variant not provided [RCV002126930] Chr10:78026154 [GRCh38]
Chr10:79785912 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3192C>T (p.Thr1064=) single nucleotide variant not provided [RCV002091250] Chr10:77985220 [GRCh38]
Chr10:79744978 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2004G>T (p.Leu668=) single nucleotide variant not provided [RCV002209392] Chr10:78007772 [GRCh38]
Chr10:79767530 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.645+9G>C single nucleotide variant not provided [RCV002074874] Chr10:78024540 [GRCh38]
Chr10:79784298 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2829C>T (p.Asn943=) single nucleotide variant not provided [RCV002127805] Chr10:77991126 [GRCh38]
Chr10:79750884 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3699G>A (p.Arg1233=) single nucleotide variant not provided [RCV002127697] Chr10:77982214 [GRCh38]
Chr10:79741972 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3798G>A (p.Thr1266=) single nucleotide variant not provided [RCV002128351] Chr10:77981521 [GRCh38]
Chr10:79741279 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.948G>A (p.Gln316=) single nucleotide variant not provided [RCV002210531] Chr10:78021960 [GRCh38]
Chr10:79781718 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-8C>G single nucleotide variant not provided [RCV002188221] Chr10:78009683 [GRCh38]
Chr10:79769441 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.318+15G>A single nucleotide variant not provided [RCV002191360] Chr10:78025607 [GRCh38]
Chr10:79785365 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2247+16T>C single nucleotide variant not provided [RCV002206193] Chr10:78004700 [GRCh38]
Chr10:79764458 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2479-12A>G single nucleotide variant not provided [RCV002168117] Chr10:78000130 [GRCh38]
Chr10:79759888 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2865G>A (p.Lys955=) single nucleotide variant not provided [RCV002125764] Chr10:77991090 [GRCh38]
Chr10:79750848 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.646-10G>A single nucleotide variant not provided [RCV002209302] Chr10:78022394 [GRCh38]
Chr10:79782152 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.275G>C (p.Cys92Ser) single nucleotide variant not provided [RCV002109197] Chr10:78025665 [GRCh38]
Chr10:79785423 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1909+15C>T single nucleotide variant not provided [RCV002147708] Chr10:78009522 [GRCh38]
Chr10:79769280 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.646-7T>C single nucleotide variant not provided [RCV002144744] Chr10:78022391 [GRCh38]
Chr10:79782149 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3430-20_3430-19dup duplication not provided [RCV002168642] Chr10:77982835..77982836 [GRCh38]
Chr10:79742593..79742594 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3072-7C>A single nucleotide variant not provided [RCV002206291] Chr10:77985347 [GRCh38]
Chr10:79745105 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2826A>G (p.Lys942=) single nucleotide variant not provided [RCV002206333] Chr10:77991129 [GRCh38]
Chr10:79750887 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2075-12_2075-8del deletion not provided [RCV002126731] Chr10:78004896..78004900 [GRCh38]
Chr10:79764654..79764658 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3738C>T (p.Thr1246=) single nucleotide variant not provided [RCV002189916] Chr10:77982175 [GRCh38]
Chr10:79741933 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.138C>T (p.Asn46=) single nucleotide variant not provided [RCV002090006] Chr10:78026136 [GRCh38]
Chr10:79785894 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.36C>G (p.Ala12=) single nucleotide variant not provided [RCV002210727] Chr10:78029372 [GRCh38]
Chr10:79789130 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3072-18C>T single nucleotide variant not provided [RCV002150334] Chr10:77985358 [GRCh38]
Chr10:79745116 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.21G>C (p.Arg7=) single nucleotide variant not provided [RCV002215317] Chr10:78029387 [GRCh38]
Chr10:79789145 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.45-7A>G single nucleotide variant not provided [RCV002076461] Chr10:78026236 [GRCh38]
Chr10:79785994 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3387C>T (p.Leu1129=) single nucleotide variant not provided [RCV002131042] Chr10:77983962 [GRCh38]
Chr10:79743720 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2616+14A>G single nucleotide variant not provided [RCV002212216] Chr10:77999967 [GRCh38]
Chr10:79759725 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.180+8C>T single nucleotide variant not provided [RCV002213113] Chr10:78026086 [GRCh38]
Chr10:79785844 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4024+13T>A single nucleotide variant not provided [RCV002086957] Chr10:77980128 [GRCh38]
Chr10:79739886 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.44+9G>A single nucleotide variant not provided [RCV002171458] Chr10:78029355 [GRCh38]
Chr10:79789113 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3303G>A (p.Val1101=) single nucleotide variant not provided [RCV002151446] Chr10:77984238 [GRCh38]
Chr10:79743996 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1203C>T (p.Ile401=) single nucleotide variant not provided [RCV002172733] Chr10:78019248 [GRCh38]
Chr10:79779006 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1910-7C>T single nucleotide variant not provided [RCV002197273] Chr10:78007873 [GRCh38]
Chr10:79767631 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3957C>T (p.Ala1319=) single nucleotide variant not provided [RCV002171981] Chr10:77980208 [GRCh38]
Chr10:79739966 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.885+19C>T single nucleotide variant not provided [RCV002174002] Chr10:78022126 [GRCh38]
Chr10:79781884 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.44+7C>T single nucleotide variant not provided [RCV002081046] Chr10:78029357 [GRCh38]
Chr10:79789115 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2310G>A (p.Glu770=) single nucleotide variant not provided [RCV002194184] Chr10:78002246 [GRCh38]
Chr10:79762004 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1432-24TTTGT[4] microsatellite not provided [RCV002186101] Chr10:78013799..78013800 [GRCh38]
Chr10:79773557..79773558 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3891+9G>A single nucleotide variant not provided [RCV002216348] Chr10:77981419 [GRCh38]
Chr10:79741177 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1719T>G (p.Val573=) single nucleotide variant not provided [RCV002151980] Chr10:78009915 [GRCh38]
Chr10:79769673 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3819C>T (p.Tyr1273=) single nucleotide variant not provided [RCV002128631] Chr10:77981500 [GRCh38]
Chr10:79741258 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4024+18A>G single nucleotide variant not provided [RCV002078088] Chr10:77980123 [GRCh38]
Chr10:79739881 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.490+12G>T single nucleotide variant not provided [RCV002079460] Chr10:78024959 [GRCh38]
Chr10:79784717 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.864C>T (p.Phe288=) single nucleotide variant not provided [RCV002152757] Chr10:78022166 [GRCh38]
Chr10:79781924 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.24G>A (p.Glu8=) single nucleotide variant not provided [RCV002192985] Chr10:78029384 [GRCh38]
Chr10:79789142 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2988+15A>T single nucleotide variant not provided [RCV002186134] Chr10:77986058 [GRCh38]
Chr10:79745816 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.646-11C>T single nucleotide variant not provided [RCV002188612] Chr10:78022395 [GRCh38]
Chr10:79782153 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2520C>T (p.Ser840=) single nucleotide variant not provided [RCV002206851] Chr10:78000077 [GRCh38]
Chr10:79759835 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.396C>G (p.Pro132=) single nucleotide variant not provided [RCV002211762] Chr10:78025065 [GRCh38]
Chr10:79784823 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.318+13G>T single nucleotide variant not provided [RCV002080362] Chr10:78025609 [GRCh38]
Chr10:79785367 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1215G>A (p.Arg405=) single nucleotide variant not provided [RCV002193347] Chr10:78019236 [GRCh38]
Chr10:79778994 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2901+13A>G single nucleotide variant not provided [RCV002134781] Chr10:77991041 [GRCh38]
Chr10:79750799 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3813C>T (p.Ile1271=) single nucleotide variant not provided [RCV002132771] Chr10:77981506 [GRCh38]
Chr10:79741264 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3892-15del deletion not provided [RCV002132797] Chr10:77980288 [GRCh38]
Chr10:79740046 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4101C>T (p.Asp1367=) single nucleotide variant not provided [RCV002189376] Chr10:77977550 [GRCh38]
Chr10:79737308 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3318G>A (p.Glu1106=) single nucleotide variant not provided [RCV002130372] Chr10:77984223 [GRCh38]
Chr10:79743981 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2880C>T (p.Cys960=) single nucleotide variant not provided [RCV002213644] Chr10:77991075 [GRCh38]
Chr10:79750833 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3595-19T>C single nucleotide variant not provided [RCV002213671] Chr10:77982337 [GRCh38]
Chr10:79742095 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2049C>T (p.Leu683=) single nucleotide variant not provided [RCV002196437] Chr10:78007727 [GRCh38]
Chr10:79767485 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2988+20C>T single nucleotide variant not provided [RCV002199414] Chr10:77986053 [GRCh38]
Chr10:79745811 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2550C>T (p.His850=) single nucleotide variant not provided [RCV002218279] Chr10:78000047 [GRCh38]
Chr10:79759805 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3396C>T (p.Leu1132=) single nucleotide variant not provided [RCV002177372] Chr10:77983953 [GRCh38]
Chr10:79743711 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1497C>T (p.Asp499=) single nucleotide variant not provided [RCV002139315] Chr10:78013725 [GRCh38]
Chr10:79773483 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3892-5C>T single nucleotide variant not provided [RCV002137984] Chr10:77980278 [GRCh38]
Chr10:79740036 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1643-24_1643-20del microsatellite not provided [RCV002180214] Chr10:78010011..78010015 [GRCh38]
Chr10:79769769..79769773 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3255C>A (p.Ile1085=) single nucleotide variant not provided [RCV002178158] Chr10:77984286 [GRCh38]
Chr10:79744044 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.786C>T (p.Ile262=) single nucleotide variant not provided [RCV002179956] Chr10:78022244 [GRCh38]
Chr10:79782002 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.837G>A (p.Leu279=) single nucleotide variant not provided [RCV002120794] Chr10:78022193 [GRCh38]
Chr10:79781951 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3282C>T (p.Asp1094=) single nucleotide variant not provided [RCV002103125] Chr10:77984259 [GRCh38]
Chr10:79744017 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1170A>G (p.Leu390=) single nucleotide variant not provided [RCV002182237] Chr10:78021561 [GRCh38]
Chr10:79781319 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2248-20A>G single nucleotide variant not provided [RCV002140276] Chr10:78002328 [GRCh38]
Chr10:79762086 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2787+16A>G single nucleotide variant not provided [RCV002178714] Chr10:77993181 [GRCh38]
Chr10:79752939 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.645+18C>T single nucleotide variant not provided [RCV002155643] Chr10:78024531 [GRCh38]
Chr10:79784289 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.181-8T>C single nucleotide variant not provided [RCV002082992] Chr10:78025767 [GRCh38]
Chr10:79785525 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.21G>A (p.Arg7=) single nucleotide variant not provided [RCV002083329] Chr10:78029387 [GRCh38]
Chr10:79789145 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2700C>T (p.Phe900=) single nucleotide variant not provided [RCV002083452] Chr10:77993284 [GRCh38]
Chr10:79753042 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1432-4A>G single nucleotide variant not provided [RCV002198127] Chr10:78013794 [GRCh38]
Chr10:79773552 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1909+10C>T single nucleotide variant not provided [RCV002218971] Chr10:78009527 [GRCh38]
Chr10:79769285 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-7_1771-5del deletion not provided [RCV002219298] Chr10:78009680..78009682 [GRCh38]
Chr10:79769438..79769440 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.873T>C (p.Asp291=) single nucleotide variant not provided [RCV002124241] Chr10:78022157 [GRCh38]
Chr10:79781915 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3435C>T (p.Asn1145=) single nucleotide variant not provided [RCV002164016] Chr10:77982812 [GRCh38]
Chr10:79742570 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.490+16A>G single nucleotide variant not provided [RCV002118436] Chr10:78024955 [GRCh38]
Chr10:79784713 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1500T>C (p.Phe500=) single nucleotide variant not provided [RCV002164420] Chr10:78013722 [GRCh38]
Chr10:79773480 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1186-10del deletion not provided [RCV002164427] Chr10:78019275 [GRCh38]
Chr10:79779033 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.4024+40A>G single nucleotide variant not provided [RCV002254064] Chr10:77980101 [GRCh38]
Chr10:79739859 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.319-196_319-195del deletion not provided [RCV002255025] Chr10:78025337..78025338 [GRCh38]
Chr10:79785095..79785096 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2247+9G>A single nucleotide variant not provided [RCV002160745] Chr10:78004707 [GRCh38]
Chr10:79764465 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3684A>G (p.Glu1228=) single nucleotide variant not provided [RCV002135413] Chr10:77982229 [GRCh38]
Chr10:79741987 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2925G>T (p.Gly975=) single nucleotide variant not provided [RCV002100134] Chr10:77986136 [GRCh38]
Chr10:79745894 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2360-15G>C single nucleotide variant not provided [RCV002184707] Chr10:78001109 [GRCh38]
Chr10:79760867 [GRCh37]
Chr10:10q22.3
benign
NM_007055.4(POLR3A):c.1573-13A>G single nucleotide variant not provided [RCV002082002] Chr10:78010553 [GRCh38]
Chr10:79770311 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1053A>G (p.Arg351=) single nucleotide variant not provided [RCV002120215] Chr10:78021678 [GRCh38]
Chr10:79781436 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.45-8C>G single nucleotide variant not provided [RCV002221050] Chr10:78026237 [GRCh38]
Chr10:79785995 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3285G>A (p.Ala1095=) single nucleotide variant not provided [RCV002217261] Chr10:77984256 [GRCh38]
Chr10:79744014 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2248-14T>G single nucleotide variant not provided [RCV002082212] Chr10:78002322 [GRCh38]
Chr10:79762080 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.886-16G>A single nucleotide variant not provided [RCV002200684] Chr10:78022038 [GRCh38]
Chr10:79781796 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1909+16T>G single nucleotide variant not provided [RCV002161880] Chr10:78009521 [GRCh38]
Chr10:79769279 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3430-4G>A single nucleotide variant not provided [RCV002217497] Chr10:77982821 [GRCh38]
Chr10:79742579 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1485C>G (p.Pro495=) single nucleotide variant not provided [RCV002202420] Chr10:78013737 [GRCh38]
Chr10:79773495 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2247+20T>C single nucleotide variant not provided [RCV002139975] Chr10:78004696 [GRCh38]
Chr10:79764454 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4024+17T>C single nucleotide variant not provided [RCV002082561] Chr10:77980124 [GRCh38]
Chr10:79739882 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3759+16C>T single nucleotide variant not provided [RCV002138760] Chr10:77982138 [GRCh38]
Chr10:79741896 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3337-20C>G single nucleotide variant not provided [RCV002153893] Chr10:77984032 [GRCh38]
Chr10:79743790 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1573-18C>A single nucleotide variant not provided [RCV002203373] Chr10:78010558 [GRCh38]
Chr10:79770316 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1143T>C (p.Ala381=) single nucleotide variant not provided [RCV002141055] Chr10:78021588 [GRCh38]
Chr10:79781346 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1401G>A (p.Ser467=) single nucleotide variant not provided [RCV002181137] Chr10:78017605 [GRCh38]
Chr10:79777363 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2074+17C>G single nucleotide variant not provided [RCV002123806] Chr10:78007685 [GRCh38]
Chr10:79767443 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1771-13C>T single nucleotide variant not provided [RCV002158501] Chr10:78009688 [GRCh38]
Chr10:79769446 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.2184C>T (p.Ile728=) single nucleotide variant not provided [RCV002082184] Chr10:78004779 [GRCh38]
Chr10:79764537 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.3071+15G>T single nucleotide variant not provided [RCV002120495] Chr10:77985888 [GRCh38]
Chr10:79745646 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1049-17T>C single nucleotide variant not provided [RCV002204688] Chr10:78021699 [GRCh38]
Chr10:79781457 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.4053C>A (p.Ile1351=) single nucleotide variant not provided [RCV002204878] Chr10:77977598 [GRCh38]
Chr10:79737356 [GRCh37]
Chr10:10q22.3
likely benign
NM_007055.4(POLR3A):c.1631A>C (p.Asp544Ala) single nucleotide variant not provided [RCV002276360] Chr10:78010482 [GRCh38]
Chr10:79770240 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_007055.4(POLR3A):c.51C>G (p.His17Gln) single nucleotide variant not provided [RCV002260832] Chr10:78026223 [GRCh38]
Chr10:79785981 [GRCh37]
Chr10:10q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30074 AgrOrtholog
COSMIC POLR3A COSMIC
Ensembl Genes ENSG00000148606 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361446 ENTREZGENE
  ENSP00000361446.3 UniProtKB/Swiss-Prot
  ENSP00000473389.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372371 ENTREZGENE
  ENST00000372371.8 UniProtKB/Swiss-Prot
  ENST00000473588.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.132.30 UniProtKB/Swiss-Prot
  1.10.274.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.860.120 UniProtKB/Swiss-Prot
GTEx ENSG00000148606 GTEx
HGNC ID HGNC:30074 ENTREZGENE
Human Proteome Map POLR3A Human Proteome Map
InterPro DNA-dir_RpoC_beta_prime UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_clamp_domain UniProtKB/Swiss-Prot
  RNAP_III_Rpc1_C UniProtKB/Swiss-Prot
  RNAP_III_RPC1_N UniProtKB/Swiss-Prot
  Rpb1_funnel_sf UniProtKB/Swiss-Prot
KEGG Report hsa:11128 UniProtKB/Swiss-Prot
NCBI Gene 11128 ENTREZGENE
OMIM 264090 OMIM
  607694 OMIM
  614258 OMIM
PANTHER PTHR19376 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134900426 PharmGKB
SMART RPOLA_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt O14802 ENTREZGENE
  Q7Z755_HUMAN UniProtKB/TrEMBL
  Q8TCW5 ENTREZGENE
  R4GMX2_HUMAN UniProtKB/TrEMBL
  RPC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8IW34 UniProtKB/Swiss-Prot
  Q8TCW5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLR3A  RNA polymerase III subunit A    polymerase (RNA) III subunit A  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR3A  polymerase (RNA) III subunit A    polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  Symbol and/or name change 5135510 APPROVED
2011-09-01 POLR3A  polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  POLR3A  polymerase (RNA) III (DNA directed) polypeptide A, 155kDa  Symbol and/or name change 5135510 APPROVED