POLR1C (RNA polymerase I and III subunit C) - Rat Genome Database

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Gene: POLR1C (RNA polymerase I and III subunit C) Homo sapiens
Analyze
Symbol: POLR1C
Name: RNA polymerase I and III subunit C
RGD ID: 1320170
HGNC Page HGNC
Description: Is predicted to contribute to RNA polymerase I activity and RNA polymerase III activity. Predicted to be involved in positive regulation of gene expression and transcription by RNA polymerase I. Localizes to RNA polymerase III complex and nucleoplasm. Implicated in Treacher Collins syndrome 3 and hypomyelinating leukodystrophy 11.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AC40; DNA-directed RNA polymerase I subunit C; DNA-directed RNA polymerases I and III 40 kDa polypeptide; DNA-directed RNA polymerases I and III subunit RPAC1; HLD11; polymerase (RNA) I polypeptide C; polymerase (RNA) I polypeptide C, 30kDa; polymerase (RNA) I subunit C; RNA polymerase I subunit; RNA polymerase I subunit C; RNA polymerases I and III subunit AC1; RP3-337H4.4; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3
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
GRCh38.p13 Ensembl643,509,702 - 43,562,419 (+)EnsemblGRCh38hg38GRCh38
GRCh38643,517,089 - 44,461,400 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37643,484,827 - 43,530,144 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,592,769 - 43,605,092 (+)NCBINCBI36hg18NCBI36
Celera645,036,412 - 45,048,735 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef643,202,730 - 43,208,225 (+)NCBIHuRef
CHM1_1643,487,894 - 43,500,246 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormality of bone mineral density  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of the adrenal glands  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absent eyelashes  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blepharospasm  (IAGP)
Brachycephaly  (IAGP)
Branchial fistula  (IAGP)
Breast carcinoma  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
CNS hypomyelination  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysphasia  (IAGP)
Encephalocele  (IAGP)
Eyelid coloboma  (IAGP)
Facial cleft  (IAGP)
Failure to thrive  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Glossoptosis  (IAGP)
High palate  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Iron accumulation in brain  (IAGP)
Leukodystrophy  (IAGP)
Low anterior hairline  (IAGP)
Lower eyelid coloboma  (IAGP)
Malar flattening  (IAGP)
Mandibulofacial dysostosis  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Multiple enchondromatosis  (IAGP)
Myopia  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow mouth  (IAGP)
Open bite  (IAGP)
Patent ductus arteriosus  (IAGP)
Preauricular skin tag  (IAGP)
Pulmonary hypoplasia  (IAGP)
Rectovaginal fistula  (IAGP)
Reduced number of teeth  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Scrotal hypoplasia  (IAGP)
Short face  (IAGP)
Skeletal dysplasia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thyroid hypoplasia  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8955128   PMID:9254723   PMID:9540830   PMID:9582279   PMID:9653160   PMID:11042152   PMID:11790298   PMID:11971179   PMID:12393749   PMID:12446911   PMID:12477932   PMID:12646563  
PMID:14574404   PMID:14743216   PMID:15226435   PMID:15489334   PMID:15592455   PMID:15635413   PMID:16189514   PMID:16196087   PMID:16341674   PMID:17148452   PMID:17207965   PMID:17353931  
PMID:17620599   PMID:19214185   PMID:19615732   PMID:19738201   PMID:20301704   PMID:21081503   PMID:21131976   PMID:21139048   PMID:21145461   PMID:21873635   PMID:21890473   PMID:21906983  
PMID:21963094   PMID:21988832   PMID:22505724   PMID:22810586   PMID:22855961   PMID:22863883   PMID:22898364   PMID:22939629   PMID:24107381   PMID:24690222   PMID:24816145   PMID:25147182  
PMID:25416956   PMID:25437307   PMID:25790162   PMID:25921289   PMID:25959826   PMID:26151409   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27049334   PMID:27107012  
PMID:27432908   PMID:27637333   PMID:27684187   PMID:27780869   PMID:27926873   PMID:28027390   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28561026   PMID:28718761  
PMID:29128334   PMID:29229926   PMID:29467282   PMID:29540532   PMID:29567474   PMID:29568061   PMID:29955894   PMID:30463901   PMID:30699358   PMID:30804502   PMID:30833792   PMID:30940648  
PMID:30957429   PMID:31010829   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31368241   PMID:31515488   PMID:31527615   PMID:31540324   PMID:31586073   PMID:32296183   PMID:32416067  
PMID:32780723   PMID:32814053  


Genomics

Comparative Map Data
POLR1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl643,509,702 - 43,562,419 (+)EnsemblGRCh38hg38GRCh38
GRCh38643,517,089 - 44,461,400 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37643,484,827 - 43,530,144 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36643,592,769 - 43,605,092 (+)NCBINCBI36hg18NCBI36
Celera645,036,412 - 45,048,735 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef643,202,730 - 43,208,225 (+)NCBIHuRef
CHM1_1643,487,894 - 43,500,246 (+)NCBICHM1_1
Polr1c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391746,554,846 - 46,558,971 (-)NCBIGRCm39mm39
GRCm39 Ensembl1746,554,846 - 46,558,980 (-)Ensembl
GRCm381746,243,920 - 46,248,045 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1746,243,920 - 46,248,054 (-)EnsemblGRCm38mm10GRCm38
MGSCv371746,380,869 - 46,384,994 (-)NCBIGRCm37mm9NCBIm37
MGSCv361745,707,509 - 45,711,545 (-)NCBImm8
Celera1749,677,058 - 49,681,183 (-)NCBICelera
Cytogenetic Map17CNCBI
Polr1c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2914,735,740 - 14,739,852 (+)NCBI
Rnor_6.0 Ensembl917,120,759 - 17,124,871 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0917,120,759 - 17,124,871 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0916,017,436 - 16,021,548 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4910,298,309 - 10,302,421 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1910,295,630 - 10,299,743 (+)NCBI
Celera912,483,058 - 12,487,170 (+)NCBICelera
Cytogenetic Map9q12NCBI
Polr1c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,346,397 - 9,350,591 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554379,346,397 - 9,350,591 (+)NCBIChiLan1.0ChiLan1.0
POLR1C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1644,399,936 - 44,404,420 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl644,395,787 - 44,412,257 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0643,101,771 - 43,121,460 (+)NCBIMhudiblu_PPA_v0panPan3
POLR1C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11211,978,337 - 11,982,265 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1211,978,422 - 12,008,579 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1212,004,514 - 12,008,441 (+)NCBI
ROS_Cfam_1.01212,461,954 - 12,465,881 (+)NCBI
UMICH_Zoey_3.11211,987,354 - 11,991,281 (+)NCBI
UNSW_CanFamBas_1.01212,074,263 - 12,078,191 (+)NCBI
UU_Cfam_GSD_1.01212,167,748 - 12,171,676 (+)NCBI
Polr1c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494647,472,764 - 47,476,677 (+)NCBI
SpeTri2.0NW_00493647616,483,203 - 16,487,360 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR1C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl738,507,073 - 38,537,943 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1738,511,521 - 38,531,938 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2744,092,595 - 44,111,879 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POLR1C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11728,637,868 - 28,649,898 (-)NCBI
Polr1c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475416,125,322 - 16,129,339 (-)NCBI

Position Markers
SHGC-107161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,496,576 - 43,496,777UniSTSGRCh37
Build 36643,604,554 - 43,604,755RGDNCBI36
Celera645,048,197 - 45,048,398RGD
Cytogenetic Map6p21.1UniSTS
HuRef643,215,450 - 43,215,651UniSTS
TNG Radiation Hybrid Map623382.0UniSTS
RH18413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,491,253 - 43,491,394UniSTSGRCh37
Build 36643,599,231 - 43,599,372RGDNCBI36
Celera645,042,874 - 45,043,015RGD
Cytogenetic Map6p21.1UniSTS
HuRef643,210,227 - 43,210,368UniSTS
GeneMap99-GB4 RH Map6166.03UniSTS
NCBI RH Map6643.1UniSTS
D6S1340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,490,090 - 43,490,389UniSTSGRCh37
Build 36643,598,068 - 43,598,367RGDNCBI36
Celera645,041,711 - 45,042,010RGD
Cytogenetic Map6p21.1UniSTS
HuRef643,209,064 - 43,209,363UniSTS
GeneMap99-GB4 RH Map6152.25UniSTS
GeneMap99-GB4 RH Map6149.61UniSTS
Whitehead-RH Map6244.1UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S1888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,490,255 - 43,490,373UniSTSGRCh37
Build 36643,598,233 - 43,598,351RGDNCBI36
Celera645,041,876 - 45,041,994RGD
Cytogenetic Map6p21.1UniSTS
HuRef643,209,229 - 43,209,347UniSTS
GeneMap99-GB4 RH Map6166.44UniSTS
GeneMap99-GB4 RH Map6166.03UniSTS
Whitehead-RH Map6263.5UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6677.6UniSTS
D6S1161E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37643,490,162 - 43,490,383UniSTSGRCh37
Build 36643,598,140 - 43,598,361RGDNCBI36
Celera645,041,783 - 45,042,004RGD
Cytogenetic Map6p21.1UniSTS
HuRef643,209,136 - 43,209,357UniSTS
GeneMap99-GB4 RH Map6166.03UniSTS
NCBI RH Map6643.1UniSTS
SHGC-53217  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21.1UniSTS
TNG Radiation Hybrid Map623354.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1437
Count of miRNA genes:648
Interacting mature miRNAs:763
Transcripts:ENST00000304004, ENST00000372344, ENST00000372389, ENST00000423780, ENST00000428025, ENST00000455605, ENST00000481352, ENST00000488601, ENST00000512472
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.


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 2271 1177 1501 401 1183 245 3528 1137 2382 325 1454 1535 173 1 1144 1998 5 2
Low 168 1808 225 223 762 220 829 1060 1352 94 6 78 2 60 790 1
Below cutoff 6 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF008442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM828768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ575535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW415914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304004   ⟹   ENSP00000307212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,529,585 (+)Ensembl
RefSeq Acc Id: ENST00000372344   ⟹   ENSP00000361419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,088 - 43,521,506 (+)Ensembl
RefSeq Acc Id: ENST00000423780   ⟹   ENSP00000409536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,112 - 43,520,312 (+)Ensembl
RefSeq Acc Id: ENST00000428025   ⟹   ENSP00000395401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,509,702 - 43,520,310 (+)Ensembl
RefSeq Acc Id: ENST00000455605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,133 - 43,521,494 (+)Ensembl
RefSeq Acc Id: ENST00000481352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,054 - 43,521,479 (+)Ensembl
RefSeq Acc Id: ENST00000488601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,098 - 43,520,703 (+)Ensembl
RefSeq Acc Id: ENST00000512472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,083 - 43,519,733 (+)Ensembl
RefSeq Acc Id: ENST00000607635   ⟹   ENSP00000496683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,562,419 (+)Ensembl
RefSeq Acc Id: ENST00000642195   ⟹   ENSP00000496044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,521,513 (+)Ensembl
RefSeq Acc Id: ENST00000643341   ⟹   ENSP00000496018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,106 - 43,562,391 (+)Ensembl
RefSeq Acc Id: ENST00000643799   ⟹   ENSP00000494529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,529,404 (+)Ensembl
RefSeq Acc Id: ENST00000645141   ⟹   ENSP00000496755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,097 - 43,521,513 (+)Ensembl
RefSeq Acc Id: ENST00000646188   ⟹   ENSP00000496001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,509,971 - 43,521,387 (+)Ensembl
RefSeq Acc Id: ENST00000646433   ⟹   ENSP00000494368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,562,242 (+)Ensembl
RefSeq Acc Id: ENST00000646700   ⟹   ENSP00000495521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl643,517,089 - 43,556,107 (+)Ensembl
RefSeq Acc Id: NM_001318876   ⟹   NP_001305805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,517,089 - 43,529,376 (+)NCBI
GRCh38643,517,089 - 44,461,400 (+)NCBI
CHM1_1643,487,894 - 43,500,246 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363658   ⟹   NP_001350587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,517,089 - 43,562,407 (+)NCBI
RefSeq Acc Id: NM_203290   ⟹   NP_976035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38643,517,089 - 43,521,513 (+)NCBI
GRCh37643,484,777 - 43,497,114 (+)NCBI
Build 36643,592,769 - 43,597,229 (+)NCBI Archive
HuRef643,202,730 - 43,208,225 (+)ENTREZGENE
CHM1_1643,487,894 - 43,492,396 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_976035   ⟸   NM_203290
- Peptide Label: isoform 1
- UniProtKB: O15160 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305805   ⟸   NM_001318876
- Peptide Label: isoform 2
- UniProtKB: O15160 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350587   ⟸   NM_001363658
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000409536   ⟸   ENST00000423780
RefSeq Acc Id: ENSP00000361419   ⟸   ENST00000372344
RefSeq Acc Id: ENSP00000395401   ⟸   ENST00000428025
RefSeq Acc Id: ENSP00000496044   ⟸   ENST00000642195
RefSeq Acc Id: ENSP00000496018   ⟸   ENST00000643341
RefSeq Acc Id: ENSP00000494529   ⟸   ENST00000643799
RefSeq Acc Id: ENSP00000496755   ⟸   ENST00000645141
RefSeq Acc Id: ENSP00000496683   ⟸   ENST00000607635
RefSeq Acc Id: ENSP00000307212   ⟸   ENST00000304004
RefSeq Acc Id: ENSP00000494368   ⟸   ENST00000646433
RefSeq Acc Id: ENSP00000496001   ⟸   ENST00000646188
RefSeq Acc Id: ENSP00000495521   ⟸   ENST00000646700
Protein Domains
RNA_pol_A_bac   RPOLD

Promoters
RGD ID:7208155
Promoter ID:EPDNEW_H9820
Type:initiation region
Name:POLR1C_1
Description:RNA polymerase I subunit C
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
GRCh38643,517,089 - 43,517,149EPDNEW
RGD ID:6804098
Promoter ID:HG_KWN:53655
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372340,   ENST00000372344,   ENST00000372356,   ENST00000372373,   NM_004875,   NM_203290,   OTTHUMT00000040637,   OTTHUMT00000040638,   OTTHUMT00000040640,   OTTHUMT00000040641,   OTTHUMT00000040643,   OTTHUMT00000040645,   OTTHUMT00000040651,   OTTHUMT00000040654,   UC003OVL.1,   UC003OVM.1,   UC010JYR.1,   UC010JYS.1,   UC010JYT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,592,751 - 43,593,317 (+)MPROMDB
RGD ID:6804545
Promoter ID:HG_KWN:53656
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000040647,   OTTHUMT00000040648,   OTTHUMT00000040649,   OTTHUMT00000040650
Position:
Human AssemblyChrPosition (strand)Source
Build 36643,595,126 - 43,596,217 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788034]|Treacher Collins syndrome 3 [RCV000023796]|not provided [RCV000513700] Chr6:43520962 [GRCh38]
Chr6:43488700 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
POLR1C, IVS8, 4-BP DEL, +3 deletion Treacher Collins syndrome 3 [RCV000023797] Chr6:6p22.3 pathogenic
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) single nucleotide variant Treacher Collins syndrome 3 [RCV000023798]|not provided [RCV001090591] Chr6:43521238 [GRCh38]
Chr6:43488976 [GRCh37]
Chr6:6p21.1
pathogenic
POLR1C, 1-BP DEL, 87T deletion Treacher Collins syndrome 3 [RCV000023799] Chr6:6p22.3 pathogenic
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788033]|Treacher Collins syndrome 3 [RCV000023800]|not provided [RCV000382254] Chr6:43520961 [GRCh38]
Chr6:43488699 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001372327.1(SLC29A1):c.1260-7C>T single nucleotide variant not provided [RCV000899172] Chr6:44233410 [GRCh38]
Chr6:44201147 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1173A>G (p.Gln391=) single nucleotide variant not provided [RCV000901940]|not specified [RCV000599801] Chr6:44306509 [GRCh38]
Chr6:44274246 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) single nucleotide variant not provided [RCV000903280]|not specified [RCV000123421] Chr6:44311065 [GRCh38]
Chr6:44278802 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1398C>T (p.Ser466=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161847]|not provided [RCV000905373]|not specified [RCV000123427] Chr6:44305689 [GRCh38]
Chr6:44273426 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_007058.4(CAPN11):c.397C>T (p.Gln133Ter) single nucleotide variant not provided [RCV000910268] Chr6:44169963 [GRCh38]
Chr6:44137700 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.288T>C (p.Ser96=) single nucleotide variant not provided [RCV000913579] Chr6:43587287 [GRCh38]
Chr6:43555024 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.1041T>C (p.Val347=) single nucleotide variant not provided [RCV000917790] Chr6:43780810 [GRCh38]
Chr6:43748547 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000401099]|not provided [RCV000918465] Chr6:44305064 [GRCh38]
Chr6:44272801 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.436-4G>T single nucleotide variant not provided [RCV000928275] Chr6:44311539 [GRCh38]
Chr6:44279276 [GRCh37]
Chr6:6p21.1
likely benign
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
NM_203290.4(POLR1C):c.882G>T (p.Lys294Asn) single nucleotide variant not provided [RCV000122597] Chr6:43521008 [GRCh38]
Chr6:43488746 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.108G>A (p.Lys36=) single nucleotide variant not provided [RCV000909912] Chr6:43645206 [GRCh38]
Chr6:43612943 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.960G>A (p.Ala320=) single nucleotide variant not provided [RCV000912828] Chr6:44307329 [GRCh38]
Chr6:44275066 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.1164C>T (p.Asn388=) single nucleotide variant not provided [RCV000902591] Chr6:43782034 [GRCh38]
Chr6:43749771 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1867-6T>G single nucleotide variant not provided [RCV000906577] Chr6:44304327 [GRCh38]
Chr6:44272064 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1257T>C (p.Ile419=) single nucleotide variant not provided [RCV000914004] Chr6:44306323 [GRCh38]
Chr6:44274060 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1150-4C>G single nucleotide variant not provided [RCV000915916]|not specified [RCV000436967] Chr6:44306536 [GRCh38]
Chr6:44274273 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1558C>T (p.Leu520=) single nucleotide variant not provided [RCV000929142]|not specified [RCV000443717] Chr6:44305075 [GRCh38]
Chr6:44272812 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*1959A>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000301911] Chr6:43616516 [GRCh38]
Chr6:43584253 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1858A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000307480] Chr6:43616415 [GRCh38]
Chr6:43584152 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.824_825delinsAT (p.Met275Asn) indel not specified [RCV000151752] Chr6:43670942..43670943 [GRCh38]
Chr6:43638679..43638680 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1445G>A (p.Arg482Gln) single nucleotide variant not specified [RCV000200791] Chr6:44305188 [GRCh38]
Chr6:44272925 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001165016]|Primary ciliary dyskinesia [RCV000206481] Chr6:43655583 [GRCh38]
Chr6:43623320 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.244-7C>T single nucleotide variant not specified [RCV000616017] Chr6:44312270 [GRCh38]
Chr6:44280007 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) single nucleotide variant not provided [RCV001200296] Chr6:44301433 [GRCh38]
Chr6:44269170 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000312870]|not provided [RCV000224462] Chr6:44301248 [GRCh38]
Chr6:44268985 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1434G>A (p.Thr478=) single nucleotide variant Xeroderma pigmentosum variant type [RCV000346093]|not specified [RCV000242577] Chr6:43613849 [GRCh38]
Chr6:43581586 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.1681A>C (p.Arg561=) single nucleotide variant not provided [RCV000932663] Chr6:44304716 [GRCh38]
Chr6:44272453 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.129G>A (p.Glu43=) single nucleotide variant not provided [RCV000939483] Chr6:43770835 [GRCh38]
Chr6:43738572 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.1227T>C (p.Ser409=) single nucleotide variant not provided [RCV000940167] Chr6:43610706 [GRCh38]
Chr6:43578443 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000578348] Chr6:44302810 [GRCh38]
Chr6:44270547 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1195A>C (p.Asn399His) single nucleotide variant not specified [RCV000255887] Chr6:44306385 [GRCh38]
Chr6:44274122 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_007355.4(HSP90AB1):c.117C>T (p.Phe39=) single nucleotide variant not provided [RCV000958579] Chr6:44248746 [GRCh38]
Chr6:44216483 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.447G>T (p.Gly149=) single nucleotide variant not provided [RCV000961717] Chr6:43587446 [GRCh38]
Chr6:43555183 [GRCh37]
Chr6:6p21.1
benign
NM_001372327.1(SLC29A1):c.864+4C>T single nucleotide variant not provided [RCV000961720] Chr6:44231465 [GRCh38]
Chr6:44199202 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) single nucleotide variant not provided [RCV000196775] Chr6:44300644 [GRCh38]
Chr6:44268381 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_019096.5(GTPBP2):c.450C>T (p.Ser150=) single nucleotide variant not provided [RCV000970141] Chr6:43625813 [GRCh38]
Chr6:43593550 [GRCh37]
Chr6:6p21.1
benign
NM_178148.4(SLC35B2):c.450G>A (p.Thr150=) single nucleotide variant not provided [RCV000970142] Chr6:44255555 [GRCh38]
Chr6:44223292 [GRCh37]
Chr6:6p21.1
benign
NM_001025366.3(VEGFA):c.973C>T (p.Arg325Ter) single nucleotide variant not provided [RCV000265745] Chr6:43780742 [GRCh38]
Chr6:43748479 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3238C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000311899] Chr6:43617795 [GRCh38]
Chr6:43585532 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.389T>C (p.Ile130Thr) single nucleotide variant Primary ciliary dyskinesia [RCV001035744] Chr6:43650536 [GRCh38]
Chr6:43618273 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4413_*4414dup duplication Xeroderma pigmentosum [RCV000313702] Chr6:43618961..43618962 [GRCh38]
Chr6:43586698..43586699 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_014628.3(MAD2L1BP):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV000886068] Chr6:43640298 [GRCh38]
Chr6:43608035 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.624C>T (p.Asp208=) single nucleotide variant not provided [RCV000891131] Chr6:43656677 [GRCh38]
Chr6:43624414 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.490+9A>G single nucleotide variant not provided [RCV000894995] Chr6:43587498 [GRCh38]
Chr6:43555235 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000272507]|not provided [RCV000417904] Chr6:44306988 [GRCh38]
Chr6:44274725 [GRCh37]
Chr6:6p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020745.4(AARS2):c.2146-2A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001332350]|Inborn genetic diseases [RCV000623301] Chr6:44303177 [GRCh38]
Chr6:44270914 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_006502.2(POLH):c.*5142_*5146del deletion Xeroderma pigmentosum [RCV000293010] Chr6:43619695..43619699 [GRCh38]
Chr6:43587432..43587436 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001332352] Chr6:44311094 [GRCh38]
Chr6:44278831 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3067A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000298068] Chr6:43617624 [GRCh38]
Chr6:43585361 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV000416577] Chr6:44426633 [GRCh38]
Chr6:44394370 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*698C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000322447] Chr6:43615255 [GRCh38]
Chr6:43582992 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2600C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000345722] Chr6:43617157 [GRCh38]
Chr6:43584894 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001291969.2(POLH):c.*4388_*4392TATTT[1] microsatellite Xeroderma pigmentosum [RCV000348578] Chr6:43618942..43618946 [GRCh38]
Chr6:43586679..43586683 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-219T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000352515] Chr6:43576226 [GRCh38]
Chr6:43543963 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000353737] Chr6:44305189 [GRCh38]
Chr6:44272926 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3088G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000355289] Chr6:43617645 [GRCh38]
Chr6:43585382 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.2679C>T (p.Leu893=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000367713]|not provided [RCV000826918] Chr6:44301384 [GRCh38]
Chr6:44269121 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_006502.2(POLH):c.2028C>T (p.Ala676=) single nucleotide variant Xeroderma pigmentosum variant type [RCV000368635] Chr6:43614443 [GRCh38]
Chr6:43582180 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2255+7C>T single nucleotide variant not specified [RCV000425229] Chr6:44303059 [GRCh38]
Chr6:44270796 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*2659T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000383909] Chr6:43617216 [GRCh38]
Chr6:43584953 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*1940G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000392915] Chr6:43616497 [GRCh38]
Chr6:43584234 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_006502.2(POLH):c.*4414dup duplication Xeroderma pigmentosum [RCV000399577] Chr6:43618961..43618962 [GRCh38]
Chr6:43586698..43586699 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*952C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000401669] Chr6:43615509 [GRCh38]
Chr6:43583246 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*3225G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000408239] Chr6:43617782 [GRCh38]
Chr6:43585519 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001158299]|Primary ciliary dyskinesia [RCV000541675] Chr6:43670878 [GRCh38]
Chr6:43638615 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000402146]|not provided [RCV000883783] Chr6:44304736 [GRCh38]
Chr6:44272473 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_152732.5(RSPH9):c.406G>C (p.Glu136Gln) single nucleotide variant Primary ciliary dyskinesia [RCV001302523] Chr6:43655574 [GRCh38]
Chr6:43623311 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001332353]|not provided [RCV000998615] Chr6:44311064 [GRCh38]
Chr6:44278801 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr) single nucleotide variant not provided [RCV000884627] Chr6:44300600 [GRCh38]
Chr6:44268337 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2007+8C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000290811]|not provided [RCV000955360]|not specified [RCV000423034] Chr6:44304173 [GRCh38]
Chr6:44271910 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_001372327.1(SLC29A1):c.590-9C>T single nucleotide variant not provided [RCV000961718] Chr6:44230559 [GRCh38]
Chr6:44198296 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2207C>T (p.Pro736Leu) single nucleotide variant not specified [RCV000197328] Chr6:44303114 [GRCh38]
Chr6:44270851 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000375443]|not provided [RCV000592642] Chr6:44310432 [GRCh38]
Chr6:44278169 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000354995]|not provided [RCV000972755]|not specified [RCV000123415] Chr6:44302438 [GRCh38]
Chr6:44270175 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000293365]|not provided [RCV000975110]|not specified [RCV000123423] Chr6:44310332 [GRCh38]
Chr6:44278069 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) deletion not provided [RCV000598759] Chr6:44301194..44301221 [GRCh38]
Chr6:44268931..44268958 [GRCh37]
Chr6:6p21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020745.4(AARS2):c.243+19T>C single nucleotide variant not specified [RCV000599815] Chr6:44313062 [GRCh38]
Chr6:44280799 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.*262T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000291770] Chr6:44300285 [GRCh38]
Chr6:44268022 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001332351] Chr6:44311499 [GRCh38]
Chr6:44279236 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-232C>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000293002] Chr6:43576213 [GRCh38]
Chr6:43543950 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) single nucleotide variant Xeroderma pigmentosum [RCV000298760] Chr6:43614285 [GRCh38]
Chr6:43582022 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4531_*4532del deletion Xeroderma pigmentosum [RCV000307415] Chr6:43619088..43619089 [GRCh38]
Chr6:43586825..43586826 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1179G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000310362] Chr6:43615736 [GRCh38]
Chr6:43583473 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*1055A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000313002] Chr6:43615612 [GRCh38]
Chr6:43583349 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.1637A>G (p.Asn546Ser) single nucleotide variant Xeroderma pigmentosum variant type [RCV000283033] Chr6:43614052 [GRCh38]
Chr6:43581789 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3769T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000283329] Chr6:43618326 [GRCh38]
Chr6:43586063 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2513A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000288440] Chr6:43617070 [GRCh38]
Chr6:43584807 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000987707]|not provided [RCV000676725] Chr6:44301456 [GRCh38]
Chr6:44269193 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161849]|not provided [RCV000199607] Chr6:44306520 [GRCh38]
Chr6:44274257 [GRCh37]
Chr6:6p21.1
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001291970.2(POLH):c.1245-69CTC[2] microsatellite Xeroderma pigmentosum [RCV000326191]|Xeroderma pigmentosum variant type [RCV000625435] Chr6:43613662..43613664 [GRCh38]
Chr6:43581399..43581401 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.986C>T (p.Thr329Ile) single nucleotide variant Xeroderma pigmentosum variant type [RCV000330096]|not provided [RCV000880605] Chr6:43604716 [GRCh38]
Chr6:43572453 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_004556.3(NFKBIE):c.351C>T (p.Ser117=) single nucleotide variant not provided [RCV000897355] Chr6:44264996 [GRCh38]
Chr6:44232733 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*2043dup duplication Xeroderma pigmentosum [RCV000266624] Chr6:43616586..43616587 [GRCh38]
Chr6:43584323..43584324 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*4806del deletion Xeroderma pigmentosum [RCV000266697] Chr6:43619363 [GRCh38]
Chr6:43587100 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*926C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000269131] Chr6:44299621 [GRCh38]
Chr6:44267358 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.*1719T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000270794] Chr6:44298828 [GRCh38]
Chr6:44266565 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_006502.2(POLH):c.*1139C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000271815] Chr6:43615696 [GRCh38]
Chr6:43583433 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter) single nucleotide variant Jaberi-Elahi syndrome [RCV000655891] Chr6:43623950 [GRCh38]
Chr6:43591687 [GRCh37]
Chr6:6p21.1
pathogenic
NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter) single nucleotide variant Jaberi-Elahi syndrome [RCV000655892] Chr6:43622692 [GRCh38]
Chr6:43590429 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.*3416G>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000276568] Chr6:43617973 [GRCh38]
Chr6:43585710 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000023929]|Inborn genetic diseases [RCV000622422]|Pulmonary hypoplasia [RCV000754863]|not provided [RCV000196012] Chr6:44304512 [GRCh38]
Chr6:44272249 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) single nucleotide variant Xeroderma pigmentosum variant type [RCV000299804]|not provided [RCV000911755] Chr6:43614439 [GRCh38]
Chr6:43582176 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.781del (p.Gln261fs) deletion not provided [RCV000657503] Chr6:44310412 [GRCh38]
Chr6:44278149 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_006502.2(POLH):c.*954C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000281708] Chr6:43615511 [GRCh38]
Chr6:43583248 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001372327.1(SLC29A1):c.618C>T (p.Phe206=) single nucleotide variant not provided [RCV000942973] Chr6:44230596 [GRCh38]
Chr6:44198333 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.885-8C>T single nucleotide variant not provided [RCV000950706] Chr6:43604607 [GRCh38]
Chr6:43572344 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001165014]|Primary ciliary dyskinesia [RCV000231327]|not specified [RCV000252936] Chr6:43650410 [GRCh38]
Chr6:43618147 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.-195G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000308184] Chr6:43576250 [GRCh38]
Chr6:43543987 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1644C>T (p.Ser548=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000311625] Chr6:44304753 [GRCh38]
Chr6:44272490 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.907C>T (p.Arg303Ter) single nucleotide variant Xeroderma pigmentosum variant type [RCV000209179] Chr6:43604637 [GRCh38]
Chr6:43572374 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.234C>A (p.Gly78=) single nucleotide variant not specified [RCV000615726] Chr6:44313090 [GRCh38]
Chr6:44280827 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.205G>T (p.Ala69Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001219520] Chr6:43645303 [GRCh38]
Chr6:43613040 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2080G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000262427] Chr6:43616637 [GRCh38]
Chr6:43584374 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.647dup (p.Cys218fs) duplication Combined oxidative phosphorylation deficiency 8 [RCV000132552]|Pulmonary hypoplasia [RCV000754864]|not provided [RCV000790768] Chr6:44311095..44311096 [GRCh38]
Chr6:44278832..44278833 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.288G>A (p.Ser96=) single nucleotide variant not provided [RCV000629623] Chr6:43650435 [GRCh38]
Chr6:43618172 [GRCh37]
Chr6:6p21.1
likely benign
NM_007355.4(HSP90AB1):c.1839C>T (p.Asp613=) single nucleotide variant not provided [RCV000894641] Chr6:44253152 [GRCh38]
Chr6:44220889 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.671-4259C>T single nucleotide variant not specified [RCV000151750] Chr6:43666530 [GRCh38]
Chr6:43634267 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.781G>A (p.Val261Ile) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001095133]|Primary ciliary dyskinesia [RCV000297993]|not specified [RCV000151751] Chr6:43670899 [GRCh38]
Chr6:43638636 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.1939A>T (p.Met647Leu) single nucleotide variant Xeroderma pigmentosum variant type [RCV000408337]|not specified [RCV000251713] Chr6:43614354 [GRCh38]
Chr6:43582091 [GRCh37]
Chr6:6p21.1
benign
NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter) single nucleotide variant Jaberi-Elahi syndrome [RCV000655890] Chr6:43625833 [GRCh38]
Chr6:43593570 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.*1735A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000282091] Chr6:43616292 [GRCh38]
Chr6:43584029 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1549C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000282409] Chr6:44298998 [GRCh38]
Chr6:44266735 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*5007T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000318679] Chr6:43619564 [GRCh38]
Chr6:43587301 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162424]|not provided [RCV000890100] Chr6:43613848 [GRCh38]
Chr6:43581585 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000578231]|Leukoencephalopathy, progressive, with ovarian failure [RCV000132554] Chr6:44305072 [GRCh38]
Chr6:44272809 [GRCh37]
Chr6:6p21.1
pathogenic
NM_007058.4(CAPN11):c.453C>T (p.Cys151=) single nucleotide variant not provided [RCV000958578] Chr6:44172345 [GRCh38]
Chr6:44140082 [GRCh37]
Chr6:6p21.1
benign
NM_007355.4(HSP90AB1):c.2019C>G (p.Pro673=) single nucleotide variant not provided [RCV000958856] Chr6:44253332 [GRCh38]
Chr6:44221069 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del) microsatellite Ciliary dyskinesia, primary, 12 [RCV000057516]|Kartagener syndrome [RCV000190874]|Primary ciliary dyskinesia [RCV000234192]|not provided [RCV000487186] Chr6:43670918..43670920 [GRCh38]
Chr6:43638655..43638657 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.798C>T (p.Gly266=) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV000198100]|not provided [RCV000858722] Chr6:43670916 [GRCh38]
Chr6:43638653 [GRCh37]
Chr6:6p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161846]|not provided [RCV000970143]|not specified [RCV000123428] Chr6:44305675 [GRCh38]
Chr6:44273412 [GRCh37]
Chr6:6p21.1
benign
NM_001253.4(CDC5L):c.1854T>C (p.His618=) single nucleotide variant not provided [RCV000970145] Chr6:44426685 [GRCh38]
Chr6:44394422 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1008dup (p.Asp337Ter) duplication not provided [RCV000199735] Chr6:44307280..44307281 [GRCh38]
Chr6:44275017..44275018 [GRCh37]
Chr6:6p21.1
pathogenic
NM_019096.5(GTPBP2):c.398+10C>G single nucleotide variant not provided [RCV000972426] Chr6:43626216 [GRCh38]
Chr6:43593953 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.2070C>T (p.Ala690=) single nucleotide variant not provided [RCV000977360] Chr6:43614485 [GRCh38]
Chr6:43582222 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*4767C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000359072] Chr6:43619324 [GRCh38]
Chr6:43587061 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1129A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000363986] Chr6:43615686 [GRCh38]
Chr6:43583423 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000371060] Chr6:44300645 [GRCh38]
Chr6:44268382 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001291969.2(POLH):c.-6dup duplication Xeroderma pigmentosum variant type [RCV000778796] Chr6:43583017..43583018 [GRCh38]
Chr6:43550754..43550755 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_006502.2(POLH):c.*3847G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000379029] Chr6:43618404 [GRCh38]
Chr6:43586141 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2202G>A (p.Leu734=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000379476] Chr6:44303119 [GRCh38]
Chr6:44270856 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1266T>C (p.Leu422=) single nucleotide variant Xeroderma pigmentosum [RCV000380775] Chr6:43613681 [GRCh38]
Chr6:43581418 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2269C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000385894] Chr6:43616826 [GRCh38]
Chr6:43584563 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.*718C>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000388154] Chr6:44299829 [GRCh38]
Chr6:44267566 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1706C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000389690] Chr6:44298841 [GRCh38]
Chr6:44266578 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2812_*2820delinsCC indel Xeroderma pigmentosum [RCV000398513] Chr6:43617369..43617377 [GRCh38]
Chr6:43585106..43585114 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.683T>C (p.Ile228Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000471156] Chr6:43670801 [GRCh38]
Chr6:43638538 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.222T>C (p.Phe74=) single nucleotide variant not provided [RCV000880123] Chr6:44313102 [GRCh38]
Chr6:44280839 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.228-6T>A single nucleotide variant Primary ciliary dyskinesia [RCV000548387] Chr6:43650369 [GRCh38]
Chr6:43618106 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_152732.5(RSPH9):c.333T>G (p.Tyr111Ter) single nucleotide variant not provided [RCV000431583] Chr6:43650480 [GRCh38]
Chr6:43618217 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1301-13T>G single nucleotide variant not specified [RCV000436097] Chr6:44305799 [GRCh38]
Chr6:44273536 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1926G>A (p.Leu642=) single nucleotide variant not provided [RCV000899859] Chr6:44304262 [GRCh38]
Chr6:44271999 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1756G>A (p.Val586Met) single nucleotide variant not specified [RCV000438338] Chr6:44304530 [GRCh38]
Chr6:44272267 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*639G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000325782] Chr6:43615196 [GRCh38]
Chr6:43582933 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*3744G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000328097] Chr6:43618301 [GRCh38]
Chr6:43586038 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1811C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000329440] Chr6:44298736 [GRCh38]
Chr6:44266473 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*290C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000334151] Chr6:43614847 [GRCh38]
Chr6:43582584 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*1916C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000346014] Chr6:43616473 [GRCh38]
Chr6:43584210 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000348265] Chr6:44310408 [GRCh38]
Chr6:44278145 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1201C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000358094] Chr6:43615758 [GRCh38]
Chr6:43583495 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_020750.2(XPO5):c.1974A>T (p.Gln658His) single nucleotide variant Malignant melanoma [RCV000067382] Chr6:43548347 [GRCh38]
Chr6:43516084 [GRCh37]
Chr6:43624062 [NCBI36]
Chr6:6p21.1
not provided
GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3 copy number gain See cases [RCV000138182] Chr6:43537357..43784452 [GRCh38]
Chr6:43505094..43752189 [GRCh37]
Chr6:43613072..43860167 [NCBI36]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000186584] Chr6:43519412 [GRCh38]
Chr6:43487150 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000186585] Chr6:43517331 [GRCh38]
Chr6:43485069 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000186586] Chr6:43520119 [GRCh38]
Chr6:43487857 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.880_882AAG[1] (p.Lys295del) microsatellite Leukodystrophy, hypomyelinating, 11 [RCV000186587]|not provided [RCV000483343] Chr6:43521006..43521008 [GRCh38]
Chr6:43488744..43488746 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000186588] Chr6:43517313 [GRCh38]
Chr6:43485051 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000186589]|Treacher Collins syndrome 3 [RCV000853238] Chr6:43519782 [GRCh38]
Chr6:43487520 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788030]|not provided [RCV000402973] Chr6:43520668 [GRCh38]
Chr6:43488406 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788019]|not specified [RCV000194137] Chr6:43517315 [GRCh38]
Chr6:43485053 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_203290.4(POLR1C):c.591C>T (p.Ile197=) single nucleotide variant not specified [RCV000192734] Chr6:43520363 [GRCh38]
Chr6:43488101 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020750.3(XPO5):c.1654G>A (p.Val552Ile) single nucleotide variant not provided [RCV000210695] Chr6:43551372 [GRCh38]
Chr6:43519109 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.68A>G (p.Asn23Ser) single nucleotide variant Treacher Collins Syndrome, Recessive [RCV000373304] Chr6:43517177 [GRCh38]
Chr6:43484915 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) single nucleotide variant Treacher Collins syndrome 3 [RCV000269797]|not provided [RCV000968843]|not specified [RCV001288686] Chr6:43520406 [GRCh38]
Chr6:43488144 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_203290.4(POLR1C):c.*30T>C single nucleotide variant Treacher Collins syndrome 3 [RCV000379654] Chr6:43521330 [GRCh38]
Chr6:43489068 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) single nucleotide variant Treacher Collins syndrome 3 [RCV000349293] Chr6:43520126 [GRCh38]
Chr6:43487864 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.-21A>G single nucleotide variant Treacher Collins syndrome 3 [RCV000287078] Chr6:43517089 [GRCh38]
Chr6:43484827 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.-4G>A single nucleotide variant Treacher Collins syndrome 3 [RCV000342022]|not provided [RCV000998605]|not specified [RCV000503567] Chr6:43517106 [GRCh38]
Chr6:43484844 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) single nucleotide variant Treacher Collins syndrome 3 [RCV000364398] Chr6:43520370 [GRCh38]
Chr6:43488108 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) single nucleotide variant Treacher Collins syndrome 3 [RCV000365437] Chr6:43520935 [GRCh38]
Chr6:43488673 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) single nucleotide variant Treacher Collins syndrome 3 [RCV000314358]|not provided [RCV000915472] Chr6:43520333 [GRCh38]
Chr6:43488071 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) single nucleotide variant Treacher Collins syndrome 3 [RCV000392292] Chr6:43520172 [GRCh38]
Chr6:43487910 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.656-9C>T single nucleotide variant Treacher Collins syndrome 3 [RCV000310816]|not provided [RCV000992672] Chr6:43520616 [GRCh38]
Chr6:43488354 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000778794]|POLR1C-Related Disorders [RCV000390190] Chr6:43519384 [GRCh38]
Chr6:43487122 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_203290.4(POLR1C):c.70-1G>A single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788018]|not provided [RCV000368134] Chr6:43517305 [GRCh38]
Chr6:43485043 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788028]|not provided [RCV000288773] Chr6:43520344 [GRCh38]
Chr6:43488082 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_203290.4(POLR1C):c.70-7G>C single nucleotide variant Treacher Collins syndrome 3 [RCV000278706] Chr6:43517299 [GRCh38]
Chr6:43485037 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) deletion Leukodystrophy, hypomyelinating, 11 [RCV001198191]|Treacher Collins syndrome 3 [RCV000490296] Chr6:43520296 [GRCh38]
Chr6:43488034 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_203290.4(POLR1C):c.1004G>A (p.Arg335His) single nucleotide variant not provided [RCV000488405] Chr6:43521263 [GRCh38]
Chr6:43489001 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) single nucleotide variant Treacher Collins syndrome 3 [RCV000320331] Chr6:43521039 [GRCh38]
Chr6:43488777 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.138G>A (p.Glu46=) single nucleotide variant Treacher Collins Syndrome, Recessive [RCV000338475] Chr6:43517374 [GRCh38]
Chr6:43485112 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) single nucleotide variant Treacher Collins syndrome 3 [RCV000312749] Chr6:43519420 [GRCh38]
Chr6:43487158 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001318876.1(POLR1C):c.-63C>A single nucleotide variant Treacher Collins Syndrome, Recessive [RCV000376937] Chr6:43517047 [GRCh38]
Chr6:43484785 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.110A>G (p.Asp37Gly) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000625894] Chr6:43517346 [GRCh38]
Chr6:43485084 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.614del (p.Gly205fs) deletion Leukodystrophy, hypomyelinating, 11 [RCV000416417] Chr6:43520385 [GRCh38]
Chr6:43488123 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000416459]|Treacher Collins syndrome 3 [RCV000850585] Chr6:43517324 [GRCh38]
Chr6:43485062 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000661923]|Treacher Collins syndrome 3 [RCV000661924] Chr6:43519820 [GRCh38]
Chr6:43487558 [GRCh37]
Chr6:6p21.1
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_203290.4(POLR1C):c.69+1G>A single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788017] Chr6:43517179 [GRCh38]
Chr6:43484917 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs) deletion Leukodystrophy, hypomyelinating, 11 [RCV000788026] Chr6:43520143..43520144 [GRCh38]
Chr6:43487881..43487882 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.37C>T (p.Arg13Cys) single nucleotide variant not provided [RCV000998606] Chr6:43517146 [GRCh38]
Chr6:43484884 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser) single nucleotide variant Treacher Collins syndrome 3 [RCV001164250] Chr6:43520971 [GRCh38]
Chr6:43488709 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.1026G>A (p.Ala342=) single nucleotide variant not provided [RCV000904250] Chr6:43521285 [GRCh38]
Chr6:43489023 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV001333747]|Treacher Collins syndrome 3 [RCV001162228]|not provided [RCV000898875] Chr6:43520104 [GRCh38]
Chr6:43487842 [GRCh37]
Chr6:6p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_203290.4(POLR1C):c.23A>G (p.Glu8Gly) single nucleotide variant not provided [RCV000882612] Chr6:43517132 [GRCh38]
Chr6:43484870 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.762C>T (p.Ser254=) single nucleotide variant not provided [RCV000923570] Chr6:43520731 [GRCh38]
Chr6:43488469 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV000902976] Chr6:43517117 [GRCh38]
Chr6:43484855 [GRCh37]
Chr6:6p21.1
likely benign
NM_020750.3(XPO5):c.2424G>A (p.Ala808=) single nucleotide variant not provided [RCV000948309] Chr6:43533926 [GRCh38]
Chr6:43501663 [GRCh37]
Chr6:6p21.1
benign
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788020] Chr6:43519737 [GRCh38]
Chr6:43487475 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788021] Chr6:43519769 [GRCh38]
Chr6:43487507 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788023]|Treacher Collins syndrome 3 [RCV001160606] Chr6:43519781 [GRCh38]
Chr6:43487519 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_203290.4(POLR1C):c.616del (p.Gln206fs) deletion Leukodystrophy, hypomyelinating, 11 [RCV000788029]|Treacher Collins syndrome 3 [RCV000850586] Chr6:43520387 [GRCh38]
Chr6:43488125 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.733G>A (p.Val245Met) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788031] Chr6:43520702 [GRCh38]
Chr6:43488440 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788032] Chr6:43520754 [GRCh38]
Chr6:43488492 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) deletion Leukodystrophy, hypomyelinating, 11 [RCV000788035] Chr6:43521040..43521044 [GRCh38]
Chr6:43488778..43488782 [GRCh37]
Chr6:6p21.1
pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_203290.4(POLR1C):c.252G>A (p.Val84=) single nucleotide variant not provided [RCV000918485] Chr6:43519708 [GRCh38]
Chr6:43487446 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.583G>C (p.Asp195His) single nucleotide variant not provided [RCV000895855] Chr6:43520355 [GRCh38]
Chr6:43488093 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) single nucleotide variant Treacher Collins syndrome 3 [RCV001164249]|not provided [RCV000939818] Chr6:43520740 [GRCh38]
Chr6:43488478 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788022] Chr6:43519778 [GRCh38]
Chr6:43487516 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.585T>C (p.Asp195=) single nucleotide variant Treacher Collins syndrome 3 [RCV001164247] Chr6:43520357 [GRCh38]
Chr6:43488095 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.639C>G (p.His213Gln) single nucleotide variant Treacher Collins syndrome 3 [RCV001164248] Chr6:43520411 [GRCh38]
Chr6:43488149 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788025]|Treacher Collins syndrome 3 [RCV001162227] Chr6:43520078 [GRCh38]
Chr6:43487816 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_203290.4(POLR1C):c.502G>A (p.Val168Met) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788027] Chr6:43520185 [GRCh38]
Chr6:43487923 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788024] Chr6:43519805 [GRCh38]
Chr6:43487543 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788036]|Treacher Collins syndrome 3 [RCV001159340] Chr6:43521197 [GRCh38]
Chr6:43488935 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys) single nucleotide variant Leukodystrophy, hypomyelinating, 11 [RCV000788037] Chr6:43521229 [GRCh38]
Chr6:43488967 [GRCh37]
Chr6:6p21.1
pathogenic
NM_203290.4(POLR1C):c.964G>T (p.Val322Leu) single nucleotide variant not provided [RCV000998607] Chr6:43521223 [GRCh38]
Chr6:43488961 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020750.3(XPO5):c.2343-9T>G single nucleotide variant not provided [RCV000886604] Chr6:43534016 [GRCh38]
Chr6:43501753 [GRCh37]
Chr6:6p21.1
benign
NM_203290.4(POLR1C):c.180A>G (p.Ser60=) single nucleotide variant not provided [RCV000982967] Chr6:43519371 [GRCh38]
Chr6:43487109 [GRCh37]
Chr6:6p21.1
likely benign
NM_203290.4(POLR1C):c.-8G>A single nucleotide variant Treacher Collins syndrome 3 [RCV001160603] Chr6:43517102 [GRCh38]
Chr6:43484840 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly) single nucleotide variant Treacher Collins syndrome 3 [RCV001160604] Chr6:43517143 [GRCh38]
Chr6:43484881 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile) single nucleotide variant Treacher Collins syndrome 3 [RCV001160605] Chr6:43517306 [GRCh38]
Chr6:43485044 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.*166C>T single nucleotide variant Treacher Collins syndrome 3 [RCV001159342] Chr6:43521466 [GRCh38]
Chr6:43489204 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln) single nucleotide variant Treacher Collins syndrome 3 [RCV001162226] Chr6:43519830 [GRCh38]
Chr6:43487568 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.480C>T (p.Asn160=) single nucleotide variant Treacher Collins syndrome 3 [RCV001162229] Chr6:43520163 [GRCh38]
Chr6:43487901 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.*105G>C single nucleotide variant Treacher Collins syndrome 3 [RCV001159341] Chr6:43521405 [GRCh38]
Chr6:43489143 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_203290.4(POLR1C):c.-15G>A single nucleotide variant Treacher Collins syndrome 3 [RCV001160602] Chr6:43517095 [GRCh38]
Chr6:43484833 [GRCh37]
Chr6:6p21.1
benign
NM_203290.4(POLR1C):c.490G>A (p.Val164Met) single nucleotide variant Treacher Collins syndrome 3 [RCV001162230] Chr6:43520173 [GRCh38]
Chr6:43487911 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.505C>T (p.Gln169Ter) single nucleotide variant Xeroderma pigmentosum variant type [RCV001333542] Chr6:43597710 [GRCh38]
Chr6:43565447 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.436-31_436-30insT insertion not provided [RCV000830721] Chr6:44311565..44311566 [GRCh38]
Chr6:44279302..44279303 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.750-200A>G single nucleotide variant not provided [RCV000832335] Chr6:44310643 [GRCh38]
Chr6:44278380 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163259] Chr6:44303100 [GRCh38]
Chr6:44270837 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.251G>A (p.Arg84His) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164356] Chr6:43583120 [GRCh38]
Chr6:43550857 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.396A>G (p.Leu132=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164359] Chr6:43587395 [GRCh38]
Chr6:43555132 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.436-140A>G single nucleotide variant not provided [RCV000834853] Chr6:44311675 [GRCh38]
Chr6:44279412 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2598+157C>T single nucleotide variant not provided [RCV000842836] Chr6:44301903 [GRCh38]
Chr6:44269640 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.*683C>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158417] Chr6:44299864 [GRCh38]
Chr6:44267601 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1533C>T (p.Asp511=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158628] Chr6:44305100 [GRCh38]
Chr6:44272837 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1474T>C (p.Leu492=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158629] Chr6:44305159 [GRCh38]
Chr6:44272896 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.2091G>A (p.Arg697=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159538] Chr6:43614506 [GRCh38]
Chr6:43582243 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2094T>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001159756] Chr6:43616651 [GRCh38]
Chr6:43584388 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4785G>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001159978] Chr6:43619342 [GRCh38]
Chr6:43587079 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3318G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001164776] Chr6:43617875 [GRCh38]
Chr6:43585612 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.*4208G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001164888] Chr6:43618765 [GRCh38]
Chr6:43586502 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1326A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165125] Chr6:44299221 [GRCh38]
Chr6:44266958 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2937C>G (p.Thr979=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165234] Chr6:44300568 [GRCh38]
Chr6:44268305 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*31A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001160915] Chr6:43614588 [GRCh38]
Chr6:43582325 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3724G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161274] Chr6:43618281 [GRCh38]
Chr6:43586018 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1406C>T (p.Ala469Val) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162423] Chr6:43613821 [GRCh38]
Chr6:43581558 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*599T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001162529] Chr6:43615156 [GRCh38]
Chr6:43582893 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1594G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001162615] Chr6:43616151 [GRCh38]
Chr6:43583888 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2844G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162721] Chr6:43617401 [GRCh38]
Chr6:43585138 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001162935] Chr6:43645244 [GRCh38]
Chr6:43612981 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*317G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163152] Chr6:44300230 [GRCh38]
Chr6:44267967 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000318932]|not provided [RCV000950707]|not specified [RCV000123416] Chr6:44302110 [GRCh38]
Chr6:44269847 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.698A>G (p.Asn233Ser) single nucleotide variant Xeroderma pigmentosum variant type [RCV000319612]|not provided [RCV000959617] Chr6:43601025 [GRCh38]
Chr6:43568762 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.946C>T (p.Arg316Cys) single nucleotide variant not specified [RCV000196922] Chr6:44307343 [GRCh38]
Chr6:44275080 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_178148.4(SLC35B2):c.1024C>G (p.Leu342Val) single nucleotide variant not provided [RCV000963032] Chr6:44254981 [GRCh38]
Chr6:44222718 [GRCh37]
Chr6:6p21.1
benign
NM_007355.4(HSP90AB1):c.1653G>A (p.Lys551=) single nucleotide variant not provided [RCV000968090] Chr6:44252189 [GRCh38]
Chr6:44219926 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161730]|not provided [RCV000199192] Chr6:44302107 [GRCh38]
Chr6:44269844 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1052G>A (p.Arg351His) single nucleotide variant Inborn genetic diseases [RCV001265787]|not provided [RCV000199473] Chr6:44307020 [GRCh38]
Chr6:44274757 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000398640]|not specified [RCV000199814] Chr6:44312239 [GRCh38]
Chr6:44279976 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.10T>A (p.Ser4Thr) single nucleotide variant not provided [RCV000199960] Chr6:44313314 [GRCh38]
Chr6:44281051 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2049_2050TG[1] (p.Val684fs) microsatellite not provided [RCV001009309] Chr6:44303379..44303380 [GRCh38]
Chr6:44271116..44271117 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_006502.2(POLH):c.764+1G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000208975] Chr6:43601092 [GRCh38]
Chr6:43568829 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.1783A>G (p.Met595Val) single nucleotide variant Xeroderma pigmentosum variant type [RCV000677310]|not specified [RCV000247560] Chr6:43614198 [GRCh38]
Chr6:43581935 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.660+10A>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000259489] Chr6:43597875 [GRCh38]
Chr6:43565612 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_152732.5(RSPH9):c.598A>G (p.Thr200Ala) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV000268571] Chr6:43656651 [GRCh38]
Chr6:43624388 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3692G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000270570] Chr6:43618249 [GRCh38]
Chr6:43585986 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT insertion Combined oxidative phosphorylation deficiency [RCV000275062] Chr6:44299913..44299914 [GRCh38]
Chr6:44267650..44267651 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*4928T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000279984] Chr6:43619485 [GRCh38]
Chr6:43587222 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_006502.2(POLH):c.1074+7T>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000294499] Chr6:43605326 [GRCh38]
Chr6:43573063 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1635_*1636insAA insertion Combined oxidative phosphorylation deficiency [RCV000295468] Chr6:44298911..44298912 [GRCh38]
Chr6:44266648..44266649 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.*1284del deletion Combined oxidative phosphorylation deficiency [RCV000303100] Chr6:44299263 [GRCh38]
Chr6:44267000 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.232G>A (p.Ala78Thr) single nucleotide variant Xeroderma pigmentosum variant type [RCV000304368] Chr6:43583101 [GRCh38]
Chr6:43550838 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-87del deletion Xeroderma pigmentosum [RCV000309267] Chr6:43576356 [GRCh38]
Chr6:43544093 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.490+1del deletion Xeroderma pigmentosum variant type [RCV000680214] Chr6:43587489 [GRCh38]
Chr6:43555226 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2598+227G>A single nucleotide variant not provided [RCV000829034] Chr6:44301833 [GRCh38]
Chr6:44269570 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1301-179G>T single nucleotide variant not provided [RCV000832035] Chr6:44305965 [GRCh38]
Chr6:44273702 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.895-331T>G single nucleotide variant not provided [RCV000832336] Chr6:44307725 [GRCh38]
Chr6:44275462 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.806A>T (p.Asn269Ile) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001158302] Chr6:43670924 [GRCh38]
Chr6:43638661 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*752G>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158416] Chr6:44299795 [GRCh38]
Chr6:44267532 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158518] Chr6:44301427 [GRCh38]
Chr6:44269164 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.525C>T (p.Leu175=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159433] Chr6:43597730 [GRCh38]
Chr6:43565467 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.709C>G (p.Leu237Val) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159434] Chr6:43601036 [GRCh38]
Chr6:43568773 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1547G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161038] Chr6:43616104 [GRCh38]
Chr6:43583841 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2537G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001161162] Chr6:43617094 [GRCh38]
Chr6:43584831 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.*13C>A single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001161504] Chr6:43670962 [GRCh38]
Chr6:43638699 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161731] Chr6:44302869 [GRCh38]
Chr6:44270606 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2683-10C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158516]|not provided [RCV000895338] Chr6:44301276 [GRCh38]
Chr6:44269013 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.1848G>A (p.Val616=) single nucleotide variant not provided [RCV000896427] Chr6:44304438 [GRCh38]
Chr6:44272175 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.*720T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001164561] Chr6:43615277 [GRCh38]
Chr6:43583014 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*884G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001164562] Chr6:43615441 [GRCh38]
Chr6:43583178 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1045G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165129] Chr6:44299502 [GRCh38]
Chr6:44267239 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000761537] Chr6:44303404 [GRCh38]
Chr6:44271141 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.808A>C (p.Met270Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001064620] Chr6:43670926 [GRCh38]
Chr6:43638663 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001025366.3(VEGFA):c.294A>G (p.Glu98=) single nucleotide variant not provided [RCV000917111] Chr6:43771000 [GRCh38]
Chr6:43738737 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1300+9G>T single nucleotide variant not provided [RCV000917664] Chr6:44306271 [GRCh38]
Chr6:44274008 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.588C>T (p.Leu196=) single nucleotide variant not provided [RCV000920587] Chr6:43771294 [GRCh38]
Chr6:43739031 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.267C>T (p.Thr89=) single nucleotide variant not provided [RCV000931752] Chr6:44312240 [GRCh38]
Chr6:44279977 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*50A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000274029] Chr6:43614607 [GRCh38]
Chr6:43582344 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*4112C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000286997] Chr6:43618669 [GRCh38]
Chr6:43586406 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*693C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000290947] Chr6:43615250 [GRCh38]
Chr6:43582987 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*2692G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000291903] Chr6:43617249 [GRCh38]
Chr6:43584986 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.393+2del deletion Ciliary dyskinesia, primary, 12 [RCV001333589] Chr6:43650542 [GRCh38]
Chr6:43618279 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1040+1G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000779509] Chr6:44307248 [GRCh38]
Chr6:44274985 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001025366.3(VEGFA):c.7_10GACA[5] (p.Thr8fs) microsatellite not provided [RCV000998610] Chr6:43770712..43770713 [GRCh38]
Chr6:43738449..43738450 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_152732.5(RSPH9):c.799G>T (p.Glu267Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000803010] Chr6:43670917 [GRCh38]
Chr6:43638654 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_020745.4(AARS2):c.2368C>G (p.Arg790Gly) single nucleotide variant not provided [RCV000498028] Chr6:44302510 [GRCh38]
Chr6:44270247 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.424G>A (p.Glu142Lys) single nucleotide variant not provided [RCV000498771] Chr6:44312083 [GRCh38]
Chr6:44279820 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-4-1G>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000778795] Chr6:43582315 [GRCh38]
Chr6:43550052 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2683-1G>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000779507] Chr6:44301267 [GRCh38]
Chr6:44269004 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000779508] Chr6:44305700 [GRCh38]
Chr6:44273437 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.491-4T>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000354571]|not provided [RCV000998609] Chr6:43597692 [GRCh38]
Chr6:43565429 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.422G>A (p.Gly141Asp) single nucleotide variant not provided [RCV000480473] Chr6:44312085 [GRCh38]
Chr6:44279822 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001078177.2(SLC29A1):c.1159A>C (p.Thr387Pro) single nucleotide variant Hemolytic disease of fetus OR newborn due to isoimmunization [RCV000492821] Chr6:44232906 [GRCh38]
Chr6:44200643 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1408G>C (p.Glu470Gln) single nucleotide variant not provided [RCV000197742] Chr6:44305679 [GRCh38]
Chr6:44273416 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2901T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000305021] Chr6:43617458 [GRCh38]
Chr6:43585195 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000307106]|not provided [RCV000676723] Chr6:44300634 [GRCh38]
Chr6:44268371 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*1615C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000317138] Chr6:43616172 [GRCh38]
Chr6:43583909 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*753C>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000333610] Chr6:44299794 [GRCh38]
Chr6:44267531 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1485G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000337477] Chr6:44299062 [GRCh38]
Chr6:44266799 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*5697G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000344327] Chr6:43620254 [GRCh38]
Chr6:43587991 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) single nucleotide variant Xeroderma pigmentosum [RCV001195542]|Xeroderma pigmentosum variant type [RCV000251879] Chr6:43587489 [GRCh38]
Chr6:43555226 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_020745.4(AARS2):c.*982G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000363751] Chr6:44299565 [GRCh38]
Chr6:44267302 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4624G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000364480] Chr6:43619181 [GRCh38]
Chr6:43586918 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000697174] Chr6:43645196 [GRCh38]
Chr6:43612933 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*700T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000377107] Chr6:43615257 [GRCh38]
Chr6:43582994 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1720C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000384037] Chr6:44298827 [GRCh38]
Chr6:44266564 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1576A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000386030] Chr6:44298971 [GRCh38]
Chr6:44266708 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*1815T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000386902] Chr6:43616372 [GRCh38]
Chr6:43584109 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1846G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000390380] Chr6:43616403 [GRCh38]
Chr6:43584140 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1103A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000392274] Chr6:43615660 [GRCh38]
Chr6:43583397 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001095287]|Primary ciliary dyskinesia [RCV000401748]|not provided [RCV000732669] Chr6:43650423 [GRCh38]
Chr6:43618160 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2850G>T (p.Met950Ile) single nucleotide variant not provided [RCV000513871] Chr6:44300655 [GRCh38]
Chr6:44268392 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.420G>A (p.Gly140=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000280963]|not provided [RCV000969511]|not specified [RCV000123420] Chr6:44312087 [GRCh38]
Chr6:44279824 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.407A>G (p.Asn136Ser) single nucleotide variant not provided [RCV000199333] Chr6:44312100 [GRCh38]
Chr6:44279837 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2681C>A (p.Ser894Ter) single nucleotide variant not provided [RCV000200375] Chr6:44301382 [GRCh38]
Chr6:44269119 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1434+7G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161845]|not specified [RCV000604472] Chr6:44305646 [GRCh38]
Chr6:44273383 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.-1G>C single nucleotide variant not specified [RCV000608844] Chr6:44313324 [GRCh38]
Chr6:44281061 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2133C>A (p.Arg711=) single nucleotide variant not specified [RCV000609393] Chr6:44303298 [GRCh38]
Chr6:44271035 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.702T>C (p.Asn234=) single nucleotide variant not specified [RCV000213197] Chr6:43670820 [GRCh38]
Chr6:43638557 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000995472] Chr6:44302127 [GRCh38]
Chr6:44269864 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_020745.4(AARS2):c.302G>A (p.Arg101His) single nucleotide variant Inborn genetic diseases [RCV001265788]|Iron accumulation in brain [RCV001003960] Chr6:44312205 [GRCh38]
Chr6:44279942 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_006502.2(POLH):c.512del (p.Leu171fs) deletion Inborn genetic diseases [RCV000624481] Chr6:43597716 [GRCh38]
Chr6:43565453 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.481A>G (p.Lys161Glu) single nucleotide variant Primary ciliary dyskinesia [RCV000629430] Chr6:43655649 [GRCh38]
Chr6:43623386 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1219A>T single nucleotide variant Xeroderma pigmentosum [RCV000265785] Chr6:43615776 [GRCh38]
Chr6:43583513 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*537C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000270765] Chr6:43615094 [GRCh38]
Chr6:43582831 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*4633C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000272667] Chr6:43619190 [GRCh38]
Chr6:43586927 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) single nucleotide variant Xeroderma pigmentosum variant type [RCV000006248] Chr6:43610596 [GRCh38]
Chr6:43578333 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.895-16C>T single nucleotide variant not specified [RCV000123424] Chr6:44307410 [GRCh38]
Chr6:44275147 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.1078dup (p.Asp360fs) duplication Xeroderma pigmentosum variant type [RCV001336972] Chr6:43610556..43610557 [GRCh38]
Chr6:43578293..43578294 [GRCh37]
Chr6:6p21.1
pathogenic
NM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del) deletion Primary bone dysplasia with multiple joint dislocations [RCV001264615] Chr6:44254785..44254787 [GRCh38]
Chr6:44222522..44222524 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV000057517] Chr6:43645150 [GRCh38]
Chr6:43612887 [GRCh37]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3 copy number gain See cases [RCV000140726] Chr6:43656888..44382430 [GRCh38]
Chr6:43624625..44350167 [GRCh37]
Chr6:43732603..44458145 [NCBI36]
Chr6:6p21.1
likely benign|uncertain significance
GRCh38/hg38 6p21.1(chr6:43779427-43782839)x3 copy number gain See cases [RCV000135490] Chr6:43779427..43782839 [GRCh38]
Chr6:43747164..43750576 [GRCh37]
Chr6:43855142..43858554 [NCBI36]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*3800T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000322059] Chr6:43618357 [GRCh38]
Chr6:43586094 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001195936]|not provided [RCV000239768] Chr6:44311148 [GRCh38]
Chr6:44278885 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic|uncertain significance
NM_020745.4(AARS2):c.879C>T (p.Leu293=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000333554] Chr6:44310314 [GRCh38]
Chr6:44278051 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.408T>C (p.Asn136=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000335896] Chr6:44312099 [GRCh38]
Chr6:44279836 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*341G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000341639] Chr6:44300206 [GRCh38]
Chr6:44267943 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*5199A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000350013] Chr6:43619756 [GRCh38]
Chr6:43587493 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1603C>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000350215] Chr6:44298944 [GRCh38]
Chr6:44266681 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1896A>G (p.Gln632=) single nucleotide variant Xeroderma pigmentosum variant type [RCV000353662] Chr6:43614311 [GRCh38]
Chr6:43582048 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_006502.2(POLH):c.738C>T (p.Leu246=) single nucleotide variant Xeroderma pigmentosum variant type [RCV000355710] Chr6:43601065 [GRCh38]
Chr6:43568802 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3335C>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000368885] Chr6:43617892 [GRCh38]
Chr6:43585629 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1650G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000374046] Chr6:43616207 [GRCh38]
Chr6:43583944 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1549C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000379942] Chr6:43616106 [GRCh38]
Chr6:43583843 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_006502.2(POLH):c.*3753C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000384917] Chr6:43618310 [GRCh38]
Chr6:43586047 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*671C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000385280] Chr6:43615228 [GRCh38]
Chr6:43582965 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) single nucleotide variant Xeroderma pigmentosum variant type [RCV000388890] Chr6:43605319 [GRCh38]
Chr6:43573056 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-98A>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000392821] Chr6:43576347 [GRCh38]
Chr6:43544084 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.*279G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000394506] Chr6:44300268 [GRCh38]
Chr6:44268005 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1753-14C>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000397451] Chr6:44304547 [GRCh38]
Chr6:44272284 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.*1473del deletion Combined oxidative phosphorylation deficiency [RCV000400266] Chr6:44299074 [GRCh38]
Chr6:44266811 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4310G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000401690] Chr6:43618867 [GRCh38]
Chr6:43586604 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000401784] Chr6:44313302 [GRCh38]
Chr6:44281039 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-5+3A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000267901]|not provided [RCV000998608] Chr6:43576443 [GRCh38]
Chr6:43544180 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000578320]|Combined oxidative phosphorylation deficiency [RCV000298603]|not provided [RCV000998614] Chr6:44305099 [GRCh38]
Chr6:44272836 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_020745.4(AARS2):c.162T>C (p.His54=) single nucleotide variant not specified [RCV000432241] Chr6:44313162 [GRCh38]
Chr6:44280899 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.225G>A (p.Glu75=) single nucleotide variant not provided [RCV000928522] Chr6:43770931 [GRCh38]
Chr6:43738668 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2146-11C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000321375] Chr6:44303186 [GRCh38]
Chr6:44270923 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1364T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000323247] Chr6:43615921 [GRCh38]
Chr6:43583658 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*2441T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000332611] Chr6:43616998 [GRCh38]
Chr6:43584735 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*871G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000335462] Chr6:43615428 [GRCh38]
Chr6:43583165 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.725C>G (p.Ser242Ter) single nucleotide variant Xeroderma pigmentosum variant type [RCV000243669] Chr6:43601052 [GRCh38]
Chr6:43568789 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000341558] Chr6:44313299 [GRCh38]
Chr6:44281036 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1300C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000343183] Chr6:44299247 [GRCh38]
Chr6:44266984 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.1721G>A (p.Cys574Tyr) single nucleotide variant Xeroderma pigmentosum variant type [RCV000343274] Chr6:43614136 [GRCh38]
Chr6:43581873 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1764C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000348808] Chr6:43616321 [GRCh38]
Chr6:43584058 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1015= (p.Ile339=) single nucleotide variant not provided [RCV000948215]|not specified [RCV000123425] Chr6:44307274 [GRCh38]
Chr6:44275011 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu) single nucleotide variant not specified [RCV000197955] Chr6:44302813 [GRCh38]
Chr6:44270550 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1262G>T (p.Arg421Leu) single nucleotide variant not provided [RCV000198152] Chr6:44306318 [GRCh38]
Chr6:44274055 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020750.3(XPO5):c.241G>A (p.Gly81Ser) single nucleotide variant not provided [RCV000970139] Chr6:43572565 [GRCh38]
Chr6:43540302 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.1751T>C (p.Leu584Pro) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164467]|not provided [RCV000970140] Chr6:43614166 [GRCh38]
Chr6:43581903 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2488-19G>A single nucleotide variant not specified [RCV000599914] Chr6:44302189 [GRCh38]
Chr6:44269926 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2392C>T (p.Gln798Ter) single nucleotide variant not provided [RCV000627308] Chr6:44302486 [GRCh38]
Chr6:44270223 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_152732.5(RSPH9):c.327C>T (p.Tyr109=) single nucleotide variant not specified [RCV000243322] Chr6:43650474 [GRCh38]
Chr6:43618211 [GRCh37]
Chr6:6p21.1
likely benign
NM_001291970.2(POLH):c.*348del deletion Xeroderma pigmentosum variant type [RCV000244978] Chr6:43614076 [GRCh38]
Chr6:43581813 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000526663] Chr6:43650520 [GRCh38]
Chr6:43618257 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2007+200C>T single nucleotide variant not provided [RCV000832337] Chr6:44303981 [GRCh38]
Chr6:44271718 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1866+12C>T single nucleotide variant not specified [RCV000444062] Chr6:44304408 [GRCh38]
Chr6:44272145 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter) single nucleotide variant Leukoencephalopathy, progressive, with ovarian failure [RCV001262436] Chr6:44304317 [GRCh38]
Chr6:44272054 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.719G>A (p.Arg240His) single nucleotide variant Primary ciliary dyskinesia [RCV000808770] Chr6:43670837 [GRCh38]
Chr6:43638574 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_007355.4(HSP90AB1):c.846A>G (p.Leu282=) single nucleotide variant not provided [RCV000883475] Chr6:44250488 [GRCh38]
Chr6:44218225 [GRCh37]
Chr6:6p21.1
benign
NM_001372327.1(SLC29A1):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV000884626] Chr6:44229444 [GRCh38]
Chr6:44197181 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.1990T>C (p.Leu664=) single nucleotide variant not provided [RCV000888322] Chr6:43614405 [GRCh38]
Chr6:43582142 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.1032C>T (p.Ser344=) single nucleotide variant not provided [RCV000897023] Chr6:43780801 [GRCh38]
Chr6:43748538 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.421G>A (p.Val141Met) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001165017]|Primary ciliary dyskinesia [RCV000464108]|not specified [RCV000151749] Chr6:43655589 [GRCh38]
Chr6:43623326 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2598+1G>T single nucleotide variant not provided [RCV000384046] Chr6:44302059 [GRCh38]
Chr6:44269796 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.2132G>A (p.Arg711His) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000385233] Chr6:44303299 [GRCh38]
Chr6:44271036 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4511T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000392506] Chr6:43619068 [GRCh38]
Chr6:43586805 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000392526] Chr6:44300711 [GRCh38]
Chr6:44268448 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000268300]|not provided [RCV000429881]|not specified [RCV000123426] Chr6:44306384 [GRCh38]
Chr6:44274121 [GRCh37]
Chr6:6p21.1
benign|likely benign|uncertain significance
NM_006502.2(POLH):c.887C>T (p.Ser296Phe) single nucleotide variant Xeroderma pigmentosum variant type [RCV000274934] Chr6:43604617 [GRCh38]
Chr6:43572354 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_019096.5(GTPBP2):c.1237-1G>T single nucleotide variant Jaberi-Elahi syndrome [RCV000655889] Chr6:43623796 [GRCh38]
Chr6:43591533 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.*408G>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000280871] Chr6:44300139 [GRCh38]
Chr6:44267876 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4368C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000281874] Chr6:43618925 [GRCh38]
Chr6:43586662 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1819A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000295023] Chr6:43616376 [GRCh38]
Chr6:43584113 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*5630G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000296425] Chr6:43620187 [GRCh38]
Chr6:43587924 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2654T>C (p.Val885Ala) single nucleotide variant not provided [RCV000676724] Chr6:44301409 [GRCh38]
Chr6:44269146 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1895A>G (p.His632Arg) single nucleotide variant not provided [RCV000676728] Chr6:44304293 [GRCh38]
Chr6:44272030 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.147C>T (p.Phe49=) single nucleotide variant not provided [RCV000676731] Chr6:44313177 [GRCh38]
Chr6:44280914 [GRCh37]
Chr6:6p21.1
likely benign
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg) single nucleotide variant not provided [RCV000678307] Chr6:44403967 [GRCh38]
Chr6:44371704 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2683-9G>A single nucleotide variant not provided [RCV000839907] Chr6:44301275 [GRCh38]
Chr6:44269012 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.*627G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158418] Chr6:44299920 [GRCh38]
Chr6:44267657 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.435+9C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158735] Chr6:44312063 [GRCh38]
Chr6:44279800 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.426A>G (p.Glu142=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158736] Chr6:44312081 [GRCh38]
Chr6:44279818 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.458G>A (p.Gly153Asp) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159432] Chr6:43587457 [GRCh38]
Chr6:43555194 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.60C>T (p.Pro20=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001160095] Chr6:44313264 [GRCh38]
Chr6:44281001 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2454G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161160] Chr6:43617011 [GRCh38]
Chr6:43584748 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*448G>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161617] Chr6:44300099 [GRCh38]
Chr6:44267836 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2086A>T (p.Met696Leu) single nucleotide variant not provided [RCV000659054] Chr6:44303345 [GRCh38]
Chr6:44271082 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2730G>A (p.Thr910=) single nucleotide variant not specified [RCV000428563] Chr6:44301219 [GRCh38]
Chr6:44268956 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.-285C>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000316874] Chr6:43576160 [GRCh38]
Chr6:43543897 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2151A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000319854] Chr6:43616708 [GRCh38]
Chr6:43584445 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.25G>T (p.Val9Phe) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162327] Chr6:43582344 [GRCh38]
Chr6:43550081 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.34G>C (p.Val12Leu) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162328] Chr6:43582353 [GRCh38]
Chr6:43550090 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1299C>A (p.Ala433=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162422] Chr6:43613714 [GRCh38]
Chr6:43581451 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*546T>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001162528] Chr6:43615103 [GRCh38]
Chr6:43582840 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.*1536G>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163034] Chr6:44299011 [GRCh38]
Chr6:44266748 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*155C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163153] Chr6:44300392 [GRCh38]
Chr6:44268129 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.244-281A>G single nucleotide variant not provided [RCV000828527] Chr6:44312544 [GRCh38]
Chr6:44280281 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2008-297C>T single nucleotide variant not provided [RCV000832339] Chr6:44303720 [GRCh38]
Chr6:44271457 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2793+191A>C single nucleotide variant not provided [RCV000832918] Chr6:44300965 [GRCh38]
Chr6:44268702 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2007+45A>T single nucleotide variant not provided [RCV000832984] Chr6:44304136 [GRCh38]
Chr6:44271873 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2364+55C>T single nucleotide variant not provided [RCV000834854] Chr6:44302747 [GRCh38]
Chr6:44270484 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2007+257C>T single nucleotide variant not provided [RCV000842834] Chr6:44303924 [GRCh38]
Chr6:44271661 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.804G>C (p.Lys268Asn) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001158301] Chr6:43670922 [GRCh38]
Chr6:43638659 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158737] Chr6:44313242 [GRCh38]
Chr6:44280979 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.409A>G (p.Ile137Val) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159431] Chr6:43587408 [GRCh38]
Chr6:43555145 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2G>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001159539] Chr6:43614559 [GRCh38]
Chr6:43582296 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3472A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001159862] Chr6:43618029 [GRCh38]
Chr6:43585766 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.*3608A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001159863] Chr6:43618165 [GRCh38]
Chr6:43585902 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.-252G>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001160706] Chr6:43576193 [GRCh38]
Chr6:43543930 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.966C>T (p.Arg322=) single nucleotide variant not specified [RCV000439888] Chr6:44307323 [GRCh38]
Chr6:44275060 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.132C>T (p.Ala44=) single nucleotide variant not specified [RCV000441863] Chr6:44313192 [GRCh38]
Chr6:44280929 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) single nucleotide variant Xeroderma pigmentosum variant type [RCV000006252]|not provided [RCV000899778] Chr6:43614018 [GRCh38]
Chr6:43581755 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_152732.5(RSPH9):c.135C>T (p.Leu45=) single nucleotide variant not provided [RCV000864388] Chr6:43645233 [GRCh38]
Chr6:43612970 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.189G>C (p.Met63Ile) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164353] Chr6:43583058 [GRCh38]
Chr6:43550795 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1568G>T (p.Ser523Ile) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164465] Chr6:43613983 [GRCh38]
Chr6:43581720 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1310T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165126] Chr6:44299237 [GRCh38]
Chr6:44266974 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001195935] Chr6:44300621 [GRCh38]
Chr6:44268358 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.3(POLH):c.*1336G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161034] Chr6:43615893 [GRCh38]
Chr6:43583630 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.*1346C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001161035] Chr6:43615903 [GRCh38]
Chr6:43583640 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5020G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161387] Chr6:43619577 [GRCh38]
Chr6:43587314 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5140C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001161388] Chr6:43619697 [GRCh38]
Chr6:43587434 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1163C>A (p.Thr388Asn) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162421] Chr6:43610642 [GRCh38]
Chr6:43578379 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3828C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001162827] Chr6:43618385 [GRCh38]
Chr6:43586122 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5731C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001162930] Chr6:43620288 [GRCh38]
Chr6:43588025 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5786G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162931] Chr6:43620343 [GRCh38]
Chr6:43588080 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5934G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162933] Chr6:43620491 [GRCh38]
Chr6:43588228 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001162934] Chr6:43645210 [GRCh38]
Chr6:43612947 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser) single nucleotide variant not provided [RCV000782186] Chr6:44429833 [GRCh38]
Chr6:44397570 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.200del (p.Gln67fs) deletion Primary ciliary dyskinesia [RCV000792840] Chr6:43645298 [GRCh38]
Chr6:43613035 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1752+8_1752+9del microsatellite not specified [RCV000478342] Chr6:44304636..44304637 [GRCh38]
Chr6:44272373..44272374 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001197420] Chr6:44311512 [GRCh38]
Chr6:44279249 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_020745.4(AARS2):c.750-9C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163664] Chr6:44310452 [GRCh38]
Chr6:44278189 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1925G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001164675] Chr6:43616482 [GRCh38]
Chr6:43584219 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3022A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001164774] Chr6:43617579 [GRCh38]
Chr6:43585316 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001025366.3(VEGFA):c.7_8dup (p.Asp3fs) duplication not provided [RCV001304876] Chr6:43770712..43770713 [GRCh38]
Chr6:43738449..43738450 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2871= (p.Ser957=) single nucleotide variant not specified [RCV000123419] Chr6:44300634 [GRCh38]
Chr6:44268371 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.149T>G (p.Phe50Cys) single nucleotide variant Leukoencephalopathy, progressive, with ovarian failure [RCV000132553] Chr6:44313175 [GRCh38]
Chr6:44280912 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001253.4(CDC5L):c.929T>C (p.Val310Ala) single nucleotide variant not provided [RCV000918466] Chr6:44408469 [GRCh38]
Chr6:44376206 [GRCh37]
Chr6:6p21.1
likely benign
NM_001025366.3(VEGFA):c.222C>G (p.Ala74=) single nucleotide variant not provided [RCV000939831] Chr6:43770928 [GRCh38]
Chr6:43738665 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1281G>A (p.Gly427=) single nucleotide variant not provided [RCV000940376]|not specified [RCV000612683] Chr6:44306299 [GRCh38]
Chr6:44274036 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.2(POLH):c.*4734G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000320708] Chr6:43619291 [GRCh38]
Chr6:43587028 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*555_*556insATAAA insertion Combined oxidative phosphorylation deficiency [RCV000330105] Chr6:44299991..44299992 [GRCh38]
Chr6:44267728..44267729 [GRCh37]
Chr6:6p21.1
benign
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) single nucleotide variant not provided [RCV001090592] Chr6:43614489 [GRCh38]
Chr6:43582226 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1753-13T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000345821]|not specified [RCV000123430] Chr6:44304546 [GRCh38]
Chr6:44272283 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000351563] Chr6:44304715 [GRCh38]
Chr6:44272452 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3685G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000362907] Chr6:43618242 [GRCh38]
Chr6:43585979 [GRCh37]
Chr6:6p21.1
uncertain significance
NC_000006.12:g.43858890C>T single nucleotide variant not provided [RCV000190304] Chr6:43858890 [GRCh38]
Chr6:43826627 [GRCh37]
Chr6:6p21.1
not provided
NM_020745.4(AARS2):c.749+14G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158734]|not specified [RCV000196252] Chr6:44310980 [GRCh38]
Chr6:44278717 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.882C>T (p.Asn294=) single nucleotide variant not specified [RCV000198099] Chr6:44310311 [GRCh38]
Chr6:44278048 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000323295]|not specified [RCV000198226] Chr6:44306388 [GRCh38]
Chr6:44274125 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2812A>C (p.Thr938Pro) single nucleotide variant not provided [RCV000198697] Chr6:44300693 [GRCh38]
Chr6:44268430 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1832G>A (p.Arg611Gln) single nucleotide variant not specified [RCV000200240] Chr6:44304454 [GRCh38]
Chr6:44272191 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000260230]|not provided [RCV000972756]|not specified [RCV000123414] Chr6:44302452 [GRCh38]
Chr6:44270189 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2097G>T (p.Val699=) single nucleotide variant not specified [RCV000603938] Chr6:44303334 [GRCh38]
Chr6:44271071 [GRCh37]
Chr6:6p21.1
likely benign
NM_019096.5(GTPBP2):c.1236+1G>A single nucleotide variant Jaberi-Elahi syndrome [RCV000985150] Chr6:43623932 [GRCh38]
Chr6:43591669 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001372327.1(SLC29A1):c.20C>T (p.Pro7Leu) single nucleotide variant Squamous cell carcinoma of the head and neck [RCV000993801] Chr6:44227333 [GRCh38]
Chr6:44195070 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1040+28C>T single nucleotide variant not provided [RCV000835340] Chr6:44307221 [GRCh38]
Chr6:44274958 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158627]|not provided [RCV000998612] Chr6:44304748 [GRCh38]
Chr6:44272485 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.221T>A (p.Phe74Tyr) single nucleotide variant not provided [RCV000998616] Chr6:44313103 [GRCh38]
Chr6:44280840 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_006502.2(POLH):c.*1091T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000369970] Chr6:43615648 [GRCh38]
Chr6:43583385 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*371A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000370169] Chr6:43614928 [GRCh38]
Chr6:43582665 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.-282A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000371621] Chr6:43576163 [GRCh38]
Chr6:43543900 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4837dup duplication Xeroderma pigmentosum [RCV000371739] Chr6:43619364..43619365 [GRCh38]
Chr6:43587101..43587102 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*423G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000375340] Chr6:44300124 [GRCh38]
Chr6:44267861 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.967G>A (p.Val323Met) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000382266] Chr6:44307322 [GRCh38]
Chr6:44275059 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*5349T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000396688] Chr6:43619906 [GRCh38]
Chr6:43587643 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1284_*1287del deletion Combined oxidative phosphorylation deficiency [RCV000399439] Chr6:44299260..44299263 [GRCh38]
Chr6:44266997..44267000 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-216C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000400586] Chr6:43576229 [GRCh38]
Chr6:43543966 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.-18A>G single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV000347973]|not specified [RCV000249598] Chr6:43645081 [GRCh38]
Chr6:43612818 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.*1112dup duplication Combined oxidative phosphorylation deficiency [RCV000272585] Chr6:44299434..44299435 [GRCh38]
Chr6:44267171..44267172 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2280A>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000275126] Chr6:43616837 [GRCh38]
Chr6:43584574 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-274C>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000281784] Chr6:43576171 [GRCh38]
Chr6:43543908 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000283905]|not provided [RCV000676727]|not specified [RCV000123412] Chr6:44303133 [GRCh38]
Chr6:44270870 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.*865G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000285154] Chr6:43615422 [GRCh38]
Chr6:43583159 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*343G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000286685] Chr6:44300204 [GRCh38]
Chr6:44267941 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.915C>T (p.Tyr305=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000287840] Chr6:44307374 [GRCh38]
Chr6:44275111 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2289T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159757] Chr6:43616846 [GRCh38]
Chr6:43584583 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4768G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159977] Chr6:43619325 [GRCh38]
Chr6:43587062 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4857G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159981] Chr6:43619414 [GRCh38]
Chr6:43587151 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4959T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159982] Chr6:43619516 [GRCh38]
Chr6:43587253 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.791C>T (p.Ala264Val) single nucleotide variant Xeroderma pigmentosum variant type [RCV001160806] Chr6:43603918 [GRCh38]
Chr6:43571655 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.815T>C (p.Ile272Thr) single nucleotide variant Xeroderma pigmentosum variant type [RCV001160807] Chr6:43603942 [GRCh38]
Chr6:43571679 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*181C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001160916] Chr6:43614738 [GRCh38]
Chr6:43582475 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1535C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001161037] Chr6:43616092 [GRCh38]
Chr6:43583829 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2423A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001161159] Chr6:43616980 [GRCh38]
Chr6:43584717 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2568G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161163] Chr6:43617125 [GRCh38]
Chr6:43584862 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3684C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001161273] Chr6:43618241 [GRCh38]
Chr6:43585978 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*5164T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001161389] Chr6:43619721 [GRCh38]
Chr6:43587458 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2345C>T (p.Thr782Ile) single nucleotide variant not provided [RCV000489182] Chr6:44302821 [GRCh38]
Chr6:44270558 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_020745.3(AARS2):c.-41C>T single nucleotide variant not specified [RCV000421996] Chr6:44313364 [GRCh38]
Chr6:44281101 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.330A>G (p.Glu110=) single nucleotide variant Primary ciliary dyskinesia [RCV000629420] Chr6:43650477 [GRCh38]
Chr6:43618214 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158519]|not provided [RCV000434762]|not specified [RCV000123418] Chr6:44301434 [GRCh38]
Chr6:44269171 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001332349] Chr6:44306525 [GRCh38]
Chr6:44274262 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2042_*2043dup duplication Xeroderma pigmentosum [RCV000297657] Chr6:43616586..43616587 [GRCh38]
Chr6:43584323..43584324 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1359A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000297677] Chr6:44299188 [GRCh38]
Chr6:44266925 [GRCh37]
Chr6:6p21.1
benign
NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV000303782] Chr6:43650532 [GRCh38]
Chr6:43618269 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1110A>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000307090] Chr6:43615667 [GRCh38]
Chr6:43583404 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.*997G>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000308942] Chr6:44299550 [GRCh38]
Chr6:44267287 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163258]|not provided [RCV000676726]|not specified [RCV000123413] Chr6:44303068 [GRCh38]
Chr6:44270805 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.3(POLH):c.*2573C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001162719] Chr6:43617130 [GRCh38]
Chr6:43584867 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3855A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001162829] Chr6:43618412 [GRCh38]
Chr6:43586149 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4143G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162830] Chr6:43618700 [GRCh38]
Chr6:43586437 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4159C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV001162831] Chr6:43618716 [GRCh38]
Chr6:43586453 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.229C>T (p.Leu77=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164354] Chr6:43583098 [GRCh38]
Chr6:43550835 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*3250G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001164775] Chr6:43617807 [GRCh38]
Chr6:43585544 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.393+13G>A single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001165015] Chr6:43650553 [GRCh38]
Chr6:43618290 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.894+324A>G single nucleotide variant not provided [RCV000828528] Chr6:44309975 [GRCh38]
Chr6:44277712 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.435+224A>C single nucleotide variant not provided [RCV000833402] Chr6:44311848 [GRCh38]
Chr6:44279585 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.787G>A (p.Val263Met) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001158300] Chr6:43670905 [GRCh38]
Chr6:43638642 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158515] Chr6:44301248 [GRCh38]
Chr6:44268985 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001158517] Chr6:44301392 [GRCh38]
Chr6:44269129 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1953G>A (p.Met651Ile) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159536] Chr6:43614368 [GRCh38]
Chr6:43582105 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165358] Chr6:44304183 [GRCh38]
Chr6:44271920 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1788T>C (p.Cys596=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165359] Chr6:44304498 [GRCh38]
Chr6:44272235 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.2031A>T (p.Val677=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001159537] Chr6:43614446 [GRCh38]
Chr6:43582183 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1156G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159649] Chr6:43615713 [GRCh38]
Chr6:43583450 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.*3631G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001159866] Chr6:43618188 [GRCh38]
Chr6:43585925 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4791G>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001159979] Chr6:43619348 [GRCh38]
Chr6:43587085 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4845T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV001159980] Chr6:43619402 [GRCh38]
Chr6:43587139 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*1528G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161036] Chr6:43616085 [GRCh38]
Chr6:43583822 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1191C>T (p.Ile397=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161848] Chr6:44306389 [GRCh38]
Chr6:44274126 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*4160G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162832] Chr6:43618717 [GRCh38]
Chr6:43586454 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1473G>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163035] Chr6:44299074 [GRCh38]
Chr6:44266811 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.*1471C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163036] Chr6:44299076 [GRCh38]
Chr6:44266813 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001025366.3(VEGFA):c.283G>T (p.Gly95Trp) single nucleotide variant not provided [RCV000998611] Chr6:43770989 [GRCh38]
Chr6:43738726 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000357193]|not provided [RCV000998613] Chr6:44304776 [GRCh38]
Chr6:44272513 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163372] Chr6:44307023 [GRCh38]
Chr6:44274760 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1041G>A (p.Pro347=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163373] Chr6:44307031 [GRCh38]
Chr6:44274768 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163374] Chr6:44307349 [GRCh38]
Chr6:44275086 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.248C>T (p.Ser83Phe) single nucleotide variant Xeroderma pigmentosum variant type [RCV001164355] Chr6:43583117 [GRCh38]
Chr6:43550854 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1293A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165127] Chr6:44299254 [GRCh38]
Chr6:44266991 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1197C>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165128] Chr6:44299350 [GRCh38]
Chr6:44267087 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2599-1G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001095677] Chr6:44301465 [GRCh38]
Chr6:44269202 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_152732.5(RSPH9):c.819C>T (p.Pro273=) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001095134]|Primary ciliary dyskinesia [RCV000265038] Chr6:43670937 [GRCh38]
Chr6:43638674 [GRCh37]
Chr6:6p21.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006502.2(POLH):c.-288C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000266411] Chr6:43576157 [GRCh38]
Chr6:43543894 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1288T>C (p.Ser430Pro) single nucleotide variant Xeroderma pigmentosum variant type [RCV000291119] Chr6:43613703 [GRCh38]
Chr6:43581440 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.243+6G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000305446]|not provided [RCV000676730] Chr6:44313075 [GRCh38]
Chr6:44280812 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*5936del deletion Xeroderma pigmentosum [RCV000309554] Chr6:43620493 [GRCh38]
Chr6:43588230 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2598+16G>T single nucleotide variant not specified [RCV000123417] Chr6:44302044 [GRCh38]
Chr6:44269781 [GRCh37]
Chr6:6p21.1
benign
NM_006502.2(POLH):c.*4807del deletion Xeroderma pigmentosum [RCV000324073] Chr6:43619364 [GRCh38]
Chr6:43587101 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000324868] Chr6:44302900 [GRCh38]
Chr6:44270637 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*3670C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000333990] Chr6:43618227 [GRCh38]
Chr6:43585964 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*394C>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000335803] Chr6:44300153 [GRCh38]
Chr6:44267890 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4271G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000335856] Chr6:43618828 [GRCh38]
Chr6:43586565 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2725G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000340041] Chr6:43617282 [GRCh38]
Chr6:43585019 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*4414del deletion Xeroderma pigmentosum [RCV000370806] Chr6:43618962 [GRCh38]
Chr6:43586699 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*366T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000371842] Chr6:44300181 [GRCh38]
Chr6:44267918 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) single nucleotide variant Leukoencephalopathy, progressive, with ovarian failure [RCV000132555] Chr6:44300612 [GRCh38]
Chr6:44268349 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000388110] Chr6:44310321 [GRCh38]
Chr6:44278058 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.1519G>C (p.Val507Leu) single nucleotide variant not provided [RCV000389235] Chr6:44305114 [GRCh38]
Chr6:44272851 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*998A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000389985] Chr6:43615555 [GRCh38]
Chr6:43583292 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000705479] Chr6:43650430 [GRCh38]
Chr6:43618167 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) single nucleotide variant Xeroderma pigmentosum variant type [RCV000398974] Chr6:43613898 [GRCh38]
Chr6:43581635 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*5713T>C single nucleotide variant Xeroderma pigmentosum variant type [RCV000401447] Chr6:43620270 [GRCh38]
Chr6:43588007 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2682+18C>T single nucleotide variant not specified [RCV000429630] Chr6:44301363 [GRCh38]
Chr6:44269100 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2598+11G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001161729]|not specified [RCV000435179] Chr6:44302049 [GRCh38]
Chr6:44269786 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp) single nucleotide variant not provided [RCV000437228] Chr6:44303399 [GRCh38]
Chr6:44271136 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.25T>C (p.Ser9Pro) single nucleotide variant Primary ciliary dyskinesia [RCV001323213] Chr6:43645123 [GRCh38]
Chr6:43612860 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) microsatellite Jaberi-Elahi syndrome [RCV001251123] Chr6:43622107..43622108 [GRCh38]
Chr6:43589844..43589845 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_006502.2(POLH):c.207del (p.Lys70fs) deletion Xeroderma pigmentosum variant type [RCV000006250] Chr6:43583076 [GRCh38]
Chr6:43550813 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001291969.2(POLH):c.68_70TCT[1] (p.Phe24del) microsatellite Xeroderma pigmentosum variant type [RCV000006251] Chr6:43583091..43583093 [GRCh38]
Chr6:43550828..43550830 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) single nucleotide variant Xeroderma pigmentosum variant type [RCV000006253] Chr6:43614181 [GRCh38]
Chr6:43581918 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000023930] Chr6:44311507 [GRCh38]
Chr6:44279244 [GRCh37]
Chr6:6p21.1
pathogenic
NM_020745.4(AARS2):c.1041-23G>C single nucleotide variant not provided [RCV000832982] Chr6:44307054 [GRCh38]
Chr6:44274791 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1150-102T>A single nucleotide variant not provided [RCV000832983] Chr6:44306634 [GRCh38]
Chr6:44274371 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.1580-48C>T single nucleotide variant not provided [RCV000837152] Chr6:44304865 [GRCh38]
Chr6:44272602 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2794-143G>A single nucleotide variant not provided [RCV000837153] Chr6:44300854 [GRCh38]
Chr6:44268591 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2598+10G>T single nucleotide variant not provided [RCV000840741] Chr6:44302050 [GRCh38]
Chr6:44269787 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.1150-182C>T single nucleotide variant not provided [RCV000842833] Chr6:44306714 [GRCh38]
Chr6:44274451 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.533C>T (p.Ala178Val) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001334095] Chr6:44311438 [GRCh38]
Chr6:44279175 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.648C>A (p.Ser216=) single nucleotide variant Ciliary dyskinesia, primary, 12 [RCV001158298] Chr6:43656701 [GRCh38]
Chr6:43624438 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.57G>C (p.Ser19=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001160096] Chr6:44313267 [GRCh38]
Chr6:44281004 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.1000C>T (p.Arg334Trp) single nucleotide variant Xeroderma pigmentosum variant type [RCV001160808] Chr6:43604730 [GRCh38]
Chr6:43572467 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*281T>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001160917] Chr6:43614838 [GRCh38]
Chr6:43582575 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*408T>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001160918] Chr6:43614965 [GRCh38]
Chr6:43582702 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.*2499G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001161161] Chr6:43617056 [GRCh38]
Chr6:43584793 [GRCh37]
Chr6:6p21.1
benign
NM_001025366.2(VEGFA):c.-2055A>C single nucleotide variant Atherosclerosis, susceptibility to [RCV000013008] Chr6:43768652 [GRCh38]
Chr6:43736389 [GRCh37]
Chr6:6p21.1
risk factor|benign
NM_006502.3(POLH):c.*3842G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV001162828] Chr6:43618399 [GRCh38]
Chr6:43586136 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.3(POLH):c.272+4A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV001164357] Chr6:43583145 [GRCh38]
Chr6:43550882 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*51T>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165233] Chr6:44300496 [GRCh38]
Chr6:44268233 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.718C>T (p.Arg240Cys) single nucleotide variant Primary ciliary dyskinesia [RCV001318250] Chr6:43670836 [GRCh38]
Chr6:43638573 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_152732.5(RSPH9):c.393+1G>A single nucleotide variant Primary ciliary dyskinesia [RCV001204684] Chr6:43650541 [GRCh38]
Chr6:43618278 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_006502.3(POLH):c.1473G>A (p.Gln491=) single nucleotide variant Xeroderma pigmentosum variant type [RCV001162425]|not provided [RCV000925879] Chr6:43613888 [GRCh38]
Chr6:43581625 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000185551]|not provided [RCV000676729] Chr6:44304737 [GRCh38]
Chr6:44272474 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000578431] Chr6:44307304 [GRCh38]
Chr6:44275041 [GRCh37]
Chr6:6p21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006502.2(POLH):c.626G>T (p.Gly209Val) single nucleotide variant Malignant tumor of breast [RCV001269501]|Xeroderma pigmentosum variant type [RCV000615798]|not provided [RCV000953963]|not specified [RCV000241818] Chr6:43597831 [GRCh38]
Chr6:43565568 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000296573]|not provided [RCV000953964]|not specified [RCV000123429] Chr6:44304645 [GRCh38]
Chr6:44272382 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163261]|not provided [RCV000196157] Chr6:44303159 [GRCh38]
Chr6:44270896 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_001372327.1(SLC29A1):c.767-5C>T single nucleotide variant not provided [RCV000961719] Chr6:44231359 [GRCh38]
Chr6:44199096 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.750-5G>A single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163663]|not provided [RCV000970144]|not specified [RCV000123422] Chr6:44310448 [GRCh38]
Chr6:44278185 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_019096.5(GTPBP2):c.1743C>T (p.Gly581=) single nucleotide variant not provided [RCV000971887] Chr6:43621680 [GRCh38]
Chr6:43589417 [GRCh37]
Chr6:6p21.1
benign
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) deletion Combined oxidative phosphorylation deficiency 8 [RCV001334094]|not specified [RCV000196377] Chr6:44313285..44313293 [GRCh38]
Chr6:44281022..44281030 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_020745.4(AARS2):c.959C>T (p.Ala320Val) single nucleotide variant not provided [RCV001200297] Chr6:44307330 [GRCh38]
Chr6:44275067 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter) single nucleotide variant Primary ciliary dyskinesia [RCV000629323] Chr6:43645215 [GRCh38]
Chr6:43612952 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.260C>G (p.Pro87Arg) single nucleotide variant Primary ciliary dyskinesia [RCV000629333] Chr6:43650407 [GRCh38]
Chr6:43618144 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.1075-?_1244+?del deletion Xeroderma pigmentosum variant type [RCV000248099] Chr6:43607987..43611911 [GRCh38]
Chr6:43578291..43578460 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.*1563dup duplication Xeroderma pigmentosum [RCV000259563] Chr6:43616119..43616120 [GRCh38]
Chr6:43583856..43583857 [GRCh37]
Chr6:6p21.1
likely benign
NM_152732.5(RSPH9):c.118C>T (p.Arg40Cys) single nucleotide variant Primary ciliary dyskinesia [RCV001227951] Chr6:43645216 [GRCh38]
Chr6:43612953 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.916G>T (p.Glu306Ter) single nucleotide variant Xeroderma pigmentosum variant type [RCV000006245] Chr6:43604646 [GRCh38]
Chr6:43572383 [GRCh37]
Chr6:6p21.1
pathogenic
NM_152732.5(RSPH9):c.523+1G>C single nucleotide variant Primary ciliary dyskinesia [RCV001206944] Chr6:43655692 [GRCh38]
Chr6:43623429 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) single nucleotide variant Leukoencephalopathy, progressive, with ovarian failure [RCV000132556] Chr6:44306367 [GRCh38]
Chr6:44274104 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001291969.2(POLH):c.118+4234C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000006247] Chr6:43587375 [GRCh38]
Chr6:43555112 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001025366.3(VEGFA):c.-94C>G single nucleotide variant Microvascular complications of diabetes 1 [RCV000013007] Chr6:43770613 [GRCh38]
Chr6:43738350 [GRCh37]
Chr6:6p21.1
risk factor
NM_006502.3(POLH):c.104C>T (p.Ala35Val) single nucleotide variant not provided [RCV000913815] Chr6:43582423 [GRCh38]
Chr6:43550160 [GRCh37]
Chr6:6p21.1
likely benign
NM_006502.3(POLH):c.1140C>T (p.Ser380=) single nucleotide variant not provided [RCV000915440] Chr6:43610619 [GRCh38]
Chr6:43578356 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.2220C>T (p.Ala740=) single nucleotide variant not provided [RCV000925269] Chr6:44303101 [GRCh38]
Chr6:44270838 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.639G>A (p.Gly213=) single nucleotide variant not provided [RCV000935342] Chr6:44311104 [GRCh38]
Chr6:44278841 [GRCh37]
Chr6:6p21.1
likely benign
NM_020745.4(AARS2):c.*1710G>T single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000325887] Chr6:44298837 [GRCh38]
Chr6:44266574 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001163260]|not provided [RCV000330157] Chr6:44303156 [GRCh38]
Chr6:44270893 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*985G>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000336773] Chr6:43615542 [GRCh38]
Chr6:43583279 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-242C>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000336847] Chr6:43576203 [GRCh38]
Chr6:43543940 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2975C>A single nucleotide variant Xeroderma pigmentosum variant type [RCV000343501] Chr6:43617532 [GRCh38]
Chr6:43585269 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_006502.2(POLH):c.-117C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000344239] Chr6:43576328 [GRCh38]
Chr6:43544065 [GRCh37]
Chr6:6p21.1
benign|uncertain significance
NM_020745.4(AARS2):c.*256A>G single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000346713] Chr6:44300291 [GRCh38]
Chr6:44268028 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV001165357]|not provided [RCV000901939]|not specified [RCV000123411] Chr6:44303398 [GRCh38]
Chr6:44271135 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_007058.4(CAPN11):c.6G>A (p.Leu2=) single nucleotide variant not provided [RCV000903190] Chr6:44158854 [GRCh38]
Chr6:44126591 [GRCh37]
Chr6:6p21.1
benign
NM_001291970.2(POLH):c.*2_*6del (p.Ter415=) deletion not provided [RCV000518963] Chr6:43613731..43613735 [GRCh38]
Chr6:43581468..43581472 [GRCh37]
Chr6:6p21.1
pathogenic
NM_006502.2(POLH):c.*1841A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000351778] Chr6:43616398 [GRCh38]
Chr6:43584135 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*2074C>T single nucleotide variant Xeroderma pigmentosum variant type [RCV000354893] Chr6:43616631 [GRCh38]
Chr6:43584368 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_020745.4(AARS2):c.*1252A>C single nucleotide variant Combined oxidative phosphorylation deficiency 8 [RCV000357920] Chr6:44299295 [GRCh38]
Chr6:44267032 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.*1984A>G single nucleotide variant Xeroderma pigmentosum variant type [RCV000359021] Chr6:43616541 [GRCh38]
Chr6:43584278 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_006502.2(POLH):c.-62C>T single nucleotide variant