AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) - Rat Genome Database

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Gene: AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) Homo sapiens
Analyze
Symbol: AFG3L2
Name: AFG3 like matrix AAA peptidase subunit 2
RGD ID: 1313183
HGNC Page HGNC:315
Description: Enables ATP hydrolysis activity and metalloendopeptidase activity. Involved in several processes, including calcium import into the mitochondrion; cellular response to glutathione; and mitochondrial protein quality control. Located in mitochondrion. Part of m-AAA complex. Is active in mitochondrial inner membrane. Implicated in optic atrophy 12; spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AFG3 (ATPase family gene 3, yeast)-like 2; AFG3 ATPase family gene 3-like 2; AFG3 ATPase family member 3-like 2; AFG3 like AAA ATPase 2; AFG3-like AAA ATPase 2; AFG3-like protein 2; ATPase family gene 3, yeast; ATPase family gene 3-like 2; FLJ25993; mitochondrial inner membrane m-AAA protease component AFG3L2; OPA12; paraplegin-like protein; SCA28; SPAX5; spinocerebellar ataxia 28
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AFG3L2P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,328,944 - 12,377,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,328,944 - 12,377,227 (-)EnsemblGRCh38hg38GRCh38
GRCh371812,328,943 - 12,377,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,319,108 - 12,367,194 (-)NCBINCBI36Build 36hg18NCBI36
Build 341812,319,107 - 12,367,194NCBI
Celera1812,209,592 - 12,258,040 (-)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,282,720 - 12,330,985 (-)NCBIHuRef
CHM1_11812,328,344 - 12,376,662 (-)NCBICHM1_1
T2T-CHM13v2.01812,491,960 - 12,540,204 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
m-AAA complex  (IBA,IDA,IEA)
membrane  (IEA)
mitochondrial inner membrane  (IDA,IEA,ISS,TAS)
mitochondrion  (HTP,IDA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal activity of mitochondrial respiratory chain  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal Ishihara plate test  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Childhood onset  (IAGP)
Cognitive impairment  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dyschromatopsia  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysmetric saccades  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Gait ataxia  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized myoclonic seizure  (IAGP)
Head tremor  (IAGP)
Hyperkinetic movements  (IAGP)
Increased intramyocellular lipid droplets  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Juvenile onset  (IAGP)
Kinetic tremor  (IAGP)
Limb ataxia  (IAGP)
Limb dystonia  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb hypertonia  (IAGP)
Lower limb muscle weakness  (IAGP)
Memory impairment  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Onion bulb formation  (IAGP)
Ophthalmoparesis  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Photophobia  (IAGP)
Progressive  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Reduced visual acuity  (IAGP)
Rigidity  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Slow saccadic eye movements  (IAGP)
Slowly progressive  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic ataxia  (IAGP)
Spastic dysarthria  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. Cagnoli C, etal., Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
2. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Di Bella D, etal., Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
3. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Edener U, etal., Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. Maltecca F, etal., J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. Pierson TM, etal., PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Smets K, etal., Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9.
12. SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy. Svenstrup K, etal., Cerebellum. 2016 Feb 11.
Additional References at PubMed
PMID:10395799   PMID:12477932   PMID:14623864   PMID:15489334   PMID:16169070   PMID:16251216   PMID:18029348   PMID:18769991   PMID:18854154   PMID:19615732   PMID:19748354   PMID:20186120  
PMID:20301317   PMID:20562859   PMID:20877624   PMID:21080425   PMID:21595125   PMID:21827917   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22252130   PMID:22268729   PMID:22354088  
PMID:22810586   PMID:23414517   PMID:23602568   PMID:23663784   PMID:24293060   PMID:24344204   PMID:24422629   PMID:24457600   PMID:24711643   PMID:24797263   PMID:24981860   PMID:25251419  
PMID:25281560   PMID:25420100   PMID:25900982   PMID:25921289   PMID:25927548   PMID:26344197   PMID:26387735   PMID:26496610   PMID:26504172   PMID:26549023   PMID:26972000   PMID:27025967  
PMID:27173435   PMID:27342126   PMID:27499296   PMID:27545878   PMID:27591049   PMID:27634302   PMID:27642048   PMID:27684187   PMID:27880917   PMID:28396416   PMID:28515276   PMID:28675297  
PMID:28883622   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29545505   PMID:29564676   PMID:29568061  
PMID:29656893   PMID:29911972   PMID:29932645   PMID:29991511   PMID:30021884   PMID:30022168   PMID:30033366   PMID:30154076   PMID:30252181   PMID:30352685   PMID:30389403   PMID:30442662  
PMID:30463901   PMID:30619736   PMID:30631154   PMID:30683687   PMID:30804502   PMID:30833792   PMID:30910913   PMID:30940648   PMID:31056398   PMID:31091453   PMID:31111429   PMID:31327635  
PMID:31527615   PMID:31586073   PMID:31617661   PMID:31753913   PMID:31871319   PMID:32060556   PMID:32176628   PMID:32219868   PMID:32235678   PMID:32248051   PMID:32600459   PMID:32614325  
PMID:32628020   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32877691   PMID:33075064   PMID:33545068   PMID:33567341   PMID:33658012   PMID:33916271   PMID:33957083   PMID:33961781  
PMID:34079125   PMID:34333379   PMID:34349018   PMID:34373451   PMID:34709727   PMID:34718584   PMID:34800366   PMID:34901782   PMID:35032548   PMID:35063084   PMID:35241646   PMID:35256949  
PMID:35384245   PMID:35509820   PMID:35563538   PMID:35912435   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36447112   PMID:36526897   PMID:36538041   PMID:36736316   PMID:36774506  
PMID:36976175   PMID:37267103   PMID:37314216   PMID:37317656   PMID:37616343   PMID:37689310   PMID:37827155   PMID:37917749   PMID:38113892   PMID:38157846   PMID:38278202   PMID:38334954  
PMID:38580884   PMID:38777146   PMID:39231216  


Genomics

Comparative Map Data
AFG3L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381812,328,944 - 12,377,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1812,328,944 - 12,377,227 (-)EnsemblGRCh38hg38GRCh38
GRCh371812,328,943 - 12,377,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361812,319,108 - 12,367,194 (-)NCBINCBI36Build 36hg18NCBI36
Build 341812,319,107 - 12,367,194NCBI
Celera1812,209,592 - 12,258,040 (-)NCBICelera
Cytogenetic Map18p11.21NCBI
HuRef1812,282,720 - 12,330,985 (-)NCBIHuRef
CHM1_11812,328,344 - 12,376,662 (-)NCBICHM1_1
T2T-CHM13v2.01812,491,960 - 12,540,204 (-)NCBIT2T-CHM13v2.0
Afg3l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391867,537,830 - 67,582,277 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1867,537,834 - 67,582,242 (-)EnsemblGRCm39 Ensembl
GRCm381867,404,764 - 67,449,192 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1867,404,764 - 67,449,172 (-)EnsemblGRCm38mm10GRCm38
MGSCv371867,564,418 - 67,608,790 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361867,530,647 - 67,573,748 (-)NCBIMGSCv36mm8
MGSCv361867,744,570 - 67,787,917 (-)NCBIMGSCv36mm8
Celera1868,681,846 - 68,732,097 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.96NCBI
Afg3l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81863,224,163 - 63,269,000 (-)NCBIGRCr8
mRatBN7.21860,954,268 - 60,999,110 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1860,954,268 - 60,999,110 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1863,024,645 - 63,069,520 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01863,723,408 - 63,768,273 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01861,575,667 - 61,620,477 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01863,141,418 - 63,185,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1863,141,418 - 63,185,510 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01862,325,697 - 62,369,789 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41863,930,652 - 63,976,211 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11864,004,342 - 64,049,237 (-)NCBI
Celera1859,060,862 - 59,105,674 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Afg3l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554021,037,402 - 1,069,165 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554021,037,414 - 1,069,165 (+)NCBIChiLan1.0ChiLan1.0
AFG3L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21725,668,723 - 25,717,054 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11811,361,288 - 11,409,633 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0181,951,279 - 1,999,313 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11817,062,250 - 17,109,400 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1817,062,250 - 17,109,400 (+)Ensemblpanpan1.1panPan2
AFG3L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1777,749,029 - 77,787,466 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl777,737,808 - 77,787,472 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha777,150,018 - 77,188,528 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0777,807,611 - 77,846,122 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl777,807,620 - 77,846,169 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1777,504,323 - 77,543,062 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0777,551,535 - 77,590,352 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0777,837,991 - 77,876,512 (-)NCBIUU_Cfam_GSD_1.0
Afg3l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404944922,646 - 961,521 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936626150,974 - 189,218 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936626150,953 - 189,980 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AFG3L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl697,200,922 - 97,235,366 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1697,200,890 - 97,234,577 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2690,816,080 - 90,833,767 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AFG3L2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11870,890,939 - 70,939,504 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1870,891,554 - 70,939,352 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605045,917,807 - 45,966,505 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Afg3l2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477019,591,215 - 19,631,722 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477019,590,829 - 19,631,663 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AFG3L2
420 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006796.3(AFG3L2):c.1984G>T (p.Val662Phe) single nucleotide variant not provided [RCV000996648]|not specified [RCV000516755] Chr18:12337532 [GRCh38]
Chr18:12337531 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2392T>C (p.Ter798Gln) single nucleotide variant not provided [RCV000520927] Chr18:12329567 [GRCh38]
Chr18:12329566 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.530A>G (p.Asn177Ser) single nucleotide variant not provided [RCV001507396]|not specified [RCV000517175] Chr18:12366987 [GRCh38]
Chr18:12366986 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.472A>C (p.Met158Leu) single nucleotide variant not provided [RCV000520245] Chr18:12367045 [GRCh38]
Chr18:12367044 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1295A>G (p.Asn432Ser) single nucleotide variant not provided [RCV000521763] Chr18:12353028 [GRCh38]
Chr18:12353027 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000023376]|Spinocerebellar ataxia type 28 [RCV002490407]|not provided [RCV000992830] Chr18:12337520 [GRCh38]
Chr18:12337519 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000023377] Chr18:12337519 [GRCh38]
Chr18:12337518 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000023378] Chr18:12337505 [GRCh38]
Chr18:12337504 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) single nucleotide variant Spastic ataxia 5 [RCV000023380]|not provided [RCV000414375] Chr18:12340334 [GRCh38]
Chr18:12340333 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000005804] Chr18:12337445 [GRCh38]
Chr18:12337444 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) indel Spinocerebellar ataxia type 28 [RCV000005805] Chr18:12337494..12337495 [GRCh38]
Chr18:12337493..12337494 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000005806] Chr18:12337435 [GRCh38]
Chr18:12337434 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000005807]|not provided [RCV000487661] Chr18:12337411 [GRCh38]
Chr18:12337410 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000005808] Chr18:12353028 [GRCh38]
Chr18:12353027 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000031941]|not provided [RCV004719667] Chr18:12340220 [GRCh38]
Chr18:12340219 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000031943] Chr18:12337519 [GRCh38]
Chr18:12337518 [GRCh37]
Chr18:18p11.21		 pathogenic|not provided
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000031946] Chr18:12337504 [GRCh38]
Chr18:12337503 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic|not provided
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000031947]|not provided [RCV001207352] Chr18:12337418 [GRCh38]
Chr18:12337417 [GRCh37]
Chr18:18p11.21		 pathogenic|not provided
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) single nucleotide variant Spastic ataxia 5 [RCV000662105]|Spinocerebellar ataxia type 28 [RCV000662106]|not provided [RCV001756119] Chr18:12363838 [GRCh38]
Chr18:12363837 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) single nucleotide variant Optic atrophy 12 [RCV001548986]|Spastic ataxia 5 [RCV001549081]|Spinocerebellar ataxia type 28 [RCV000323296]|not provided [RCV000676675]|not specified [RCV000116248] Chr18:12351343 [GRCh38]
Chr18:12351342 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) single nucleotide variant Optic atrophy 12 [RCV001548984]|Spastic ataxia 5 [RCV001548985]|Spinocerebellar ataxia type 28 [RCV000329004]|not provided [RCV000676673]|not specified [RCV000116249] Chr18:12348286 [GRCh38]
Chr18:12348285 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.752+6C>T single nucleotide variant Optic atrophy 12 [RCV001549085]|Spastic ataxia 5 [RCV001549086]|Spinocerebellar ataxia type 28 [RCV000340354]|not provided [RCV000676677]|not specified [RCV000179927] Chr18:12359921 [GRCh38]
Chr18:12359920 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1026+8G>A single nucleotide variant AFG3L2-related disorder [RCV003915230]|Spinocerebellar ataxia type 28 [RCV000379915]|not provided [RCV000676676]|not specified [RCV000123555] Chr18:12358662 [GRCh38]
Chr18:12358661 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.1664-9T>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000271865]|not provided [RCV000676672]|not specified [RCV000174759] Chr18:12344256 [GRCh38]
Chr18:12344255 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.2175+18G>A single nucleotide variant not provided [RCV002055396]|not specified [RCV000123559] Chr18:12337323 [GRCh38]
Chr18:12337322 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.*2G>A single nucleotide variant AFG3L2-related disorder [RCV003915231]|Spinocerebellar ataxia type 28 [RCV000260206]|not provided [RCV000676671]|not specified [RCV000123560] Chr18:12329563 [GRCh38]
Chr18:12329562 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.-32C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV000325300]|not provided [RCV004709309]|not specified [RCV000123561] Chr18:12377114 [GRCh38]
Chr18:12377113 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.1363C>T (p.Arg455Ter) single nucleotide variant not provided [RCV000999534] Chr18:12351369 [GRCh38]
Chr18:12351368 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.2092G>T (p.Asp698Tyr) single nucleotide variant not provided [RCV000999532] Chr18:12337424 [GRCh38]
Chr18:12337423 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1846T>C (p.Tyr616His) single nucleotide variant not provided [RCV000999533] Chr18:12340335 [GRCh38]
Chr18:12340334 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2101G>A (p.Val701Ile) single nucleotide variant not provided [RCV000999531] Chr18:12337415 [GRCh38]
Chr18:12337414 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1501G>A (p.Glu501Lys) single nucleotide variant Spastic ataxia 5 [RCV001331643] Chr18:12351136 [GRCh38]
Chr18:12351135 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh38/hg38 18p11.21(chr18:12159446-12739785) copy number gain See cases [RCV000133800] Chr18:12159446..12739785 [GRCh38]
Chr18:12159445..12739784 [GRCh37]
Chr18:12149445..12729784 [NCBI36]
Chr18:18p11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3 copy number gain See cases [RCV000136610] Chr18:10077657..14081888 [GRCh38]
Chr18:10077654..14081887 [GRCh37]
Chr18:10067654..14071887 [NCBI36]
Chr18:18p11.22-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) single nucleotide variant Spastic ataxia 5 [RCV000149914]|Spinocerebellar ataxia type 28 [RCV002265626]|not provided [RCV003144139] Chr18:12340306 [GRCh38]
Chr18:12340305 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala) single nucleotide variant not provided [RCV001657978]|not specified [RCV000194628] Chr18:12337454 [GRCh38]
Chr18:12337453 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000289354]|Spinocerebellar ataxia type 28 [RCV000660399]|not provided [RCV002517192] Chr18:12351335 [GRCh38]
Chr18:12351334 [GRCh37]
Chr18:18p11.21		 likely pathogenic|uncertain significance
NM_006796.2(AFG3L2):c.2272G>C (p.Glu758Gln) single nucleotide variant not specified [RCV000200805] Chr18:12329687 [GRCh38]
Chr18:12329686 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr) single nucleotide variant not provided [RCV000197062]|not specified [RCV003323446] Chr18:12344149 [GRCh38]
Chr18:12344148 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) single nucleotide variant AFG3L2-related disorder [RCV004755808]|Spastic ataxia 5 [RCV001262989]|Spinocerebellar ataxia type 28 [RCV000369996]|not provided [RCV000488282]|not specified [RCV000197194] Chr18:12329645 [GRCh38]
Chr18:12329644 [GRCh37]
Chr18:18p11.21		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.848G>A (p.Arg283Gln) single nucleotide variant not provided [RCV000197308] Chr18:12358848 [GRCh38]
Chr18:12358847 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.2(AFG3L2):c.1994G>T (p.Gly665Val) single nucleotide variant not provided [RCV000198216] Chr18:12337522 [GRCh38]
Chr18:12337521 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) single nucleotide variant Optic atrophy 12 [RCV004765321]|not provided [RCV000992835] Chr18:12367054 [GRCh38]
Chr18:12367053 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.2(AFG3L2):c.1012G>A (p.Ala338Thr) single nucleotide variant not provided [RCV000198799] Chr18:12358684 [GRCh38]
Chr18:12358683 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.2348G>A (p.Arg783Gln) single nucleotide variant not provided [RCV000199030] Chr18:12329611 [GRCh38]
Chr18:12329610 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer) deletion Spinocerebellar ataxia type 28 [RCV004767140]|not provided [RCV000195472] Chr18:12337448..12337449 [GRCh38]
Chr18:12337447..12337448 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) single nucleotide variant Inborn genetic diseases [RCV002517193]|Spastic ataxia 5 [RCV001640293]|Spinocerebellar ataxia type 28 [RCV001122821]|Spinocerebellar ataxia type 28 [RCV003224221]|not provided [RCV000195592] Chr18:12337349 [GRCh38]
Chr18:12337348 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1052G>A (p.Gly351Asp) single nucleotide variant not provided [RCV003544775] Chr18:12356806 [GRCh38]
Chr18:12356805 [GRCh37]
Chr18:18p11.21		 likely pathogenic|uncertain significance
NM_006796.3(AFG3L2):c.293-14_293-13del deletion Autosomal dominant cerebellar ataxia [RCV000334706]|not provided [RCV001795320]|not specified [RCV000196236] Chr18:12367395..12367396 [GRCh38]
Chr18:12367394..12367395 [GRCh37]
Chr18:18p11.21		 pathogenic|benign|likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=) single nucleotide variant not provided [RCV002527452]|not specified [RCV000518444] Chr18:12353156 [GRCh38]
Chr18:12353155 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1951A>C (p.Arg651=) single nucleotide variant not specified [RCV000518512] Chr18:12340230 [GRCh38]
Chr18:12340229 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) single nucleotide variant AFG3L2-related disorder [RCV003912361]|Spinocerebellar ataxia type 28 [RCV000283135]|not provided [RCV000713023] Chr18:12358903 [GRCh38]
Chr18:12358902 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.*326G>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV000303900] Chr18:12329239 [GRCh38]
Chr18:12329238 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.2175+14G>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV000277671] Chr18:12337327 [GRCh38]
Chr18:12337326 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.*28G>C single nucleotide variant Optic atrophy 12 [RCV001548982]|Spastic ataxia 5 [RCV001548983]|Spinocerebellar ataxia type 28 [RCV000357421]|not provided [RCV001618575] Chr18:12329537 [GRCh38]
Chr18:12329536 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.215-11_215-6del microsatellite Autosomal dominant cerebellar ataxia [RCV000370269]|not provided [RCV000902368]|not specified [RCV000482659] Chr18:12370932..12370937 [GRCh38]
Chr18:12370931..12370936 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.-18A>G single nucleotide variant Spinocerebellar ataxia type 28 [RCV000272564] Chr18:12377100 [GRCh38]
Chr18:12377099 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-137G>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000281188]|not provided [RCV001568597] Chr18:12377219 [GRCh38]
Chr18:12377218 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.400-14C>G single nucleotide variant Spinocerebellar ataxia type 28 [RCV000282045]|not provided [RCV001690081] Chr18:12367131 [GRCh38]
Chr18:12367130 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.-92T>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000321012] Chr18:12377174 [GRCh38]
Chr18:12377173 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.-96G>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000377956]|not provided [RCV001660673] Chr18:12377178 [GRCh38]
Chr18:12377177 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) single nucleotide variant Inborn genetic diseases [RCV003168484]|Spinocerebellar ataxia type 28 [RCV000330348]|not specified [RCV000517688] Chr18:12337481 [GRCh38]
Chr18:12337480 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1186G>A (p.Ala396Thr) single nucleotide variant not provided [RCV000391292] Chr18:12353137 [GRCh38]
Chr18:12353136 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) single nucleotide variant AFG3L2-related disorder [RCV003940294]|Autosomal dominant cerebellar ataxia [RCV000312572]|Inborn genetic diseases [RCV002523035]|not provided [RCV000992838] Chr18:12376985 [GRCh38]
Chr18:12376984 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.1426+9A>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV000381305]|not specified [RCV000610629] Chr18:12351297 [GRCh38]
Chr18:12351296 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.215-5A>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000313807]|not provided [RCV001557486] Chr18:12370931 [GRCh38]
Chr18:12370930 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.114+12C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV000394614]|not provided [RCV002524452]|not specified [RCV000422479] Chr18:12376957 [GRCh38]
Chr18:12376956 [GRCh37]
Chr18:18p11.21		 benign|likely benign|uncertain significance
NM_006796.3(AFG3L2):c.*109A>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000300228]|not provided [RCV001548410] Chr18:12329456 [GRCh38]
Chr18:12329455 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.*484A>G single nucleotide variant Spinocerebellar ataxia type 28 [RCV000345865] Chr18:12329081 [GRCh38]
Chr18:12329080 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.*311C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV000340153]|not provided [RCV004709809] Chr18:12329254 [GRCh38]
Chr18:12329253 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) single nucleotide variant AFG3L2-related disorder [RCV003940293]|Spinocerebellar ataxia type 28 [RCV000405064]|not provided [RCV000884213]|not specified [RCV000432288] Chr18:12367019 [GRCh38]
Chr18:12367018 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.-71C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV000266676]|not provided [RCV001577891] Chr18:12377153 [GRCh38]
Chr18:12377152 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser) single nucleotide variant not provided [RCV000489336] Chr18:12351097 [GRCh38]
Chr18:12351096 [GRCh37]
Chr18:18p11.21		 likely pathogenic|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.376C>T (p.His126Tyr) single nucleotide variant not specified [RCV000518579] Chr18:12367299 [GRCh38]
Chr18:12367298 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2185C>G (p.Leu729Val) single nucleotide variant not provided [RCV000523627] Chr18:12329774 [GRCh38]
Chr18:12329773 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg) single nucleotide variant Inborn genetic diseases [RCV002523416]|not provided [RCV000489887] Chr18:12340361 [GRCh38]
Chr18:12340360 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.*585A>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000290785] Chr18:12328980 [GRCh38]
Chr18:12328979 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-56C>A single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000363526] Chr18:12377138 [GRCh38]
Chr18:12377137 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000364860] Chr18:12376994 [GRCh38]
Chr18:12376993 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000402595] Chr18:12370873 [GRCh38]
Chr18:12370872 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.*373G>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV000403145] Chr18:12329192 [GRCh38]
Chr18:12329191 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=) single nucleotide variant not provided [RCV000943050]|not specified [RCV000517625] Chr18:12340315 [GRCh38]
Chr18:12340314 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.1664-5G>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV000368764] Chr18:12344252 [GRCh38]
Chr18:12344251 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.2(AFG3L2):c.-207T>A single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000360623] Chr18:12377289 [GRCh38]
Chr18:12377288 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.232C>G (p.Pro78Ala) single nucleotide variant Inborn genetic diseases [RCV003242822] Chr18:12370909 [GRCh38]
Chr18:12370908 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000298914] Chr18:12329613 [GRCh38]
Chr18:12329612 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.*221A>G single nucleotide variant Spinocerebellar ataxia type 28 [RCV000396483] Chr18:12329344 [GRCh38]
Chr18:12329343 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.2(AFG3L2):c.-206C>A single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000303342] Chr18:12377288 [GRCh38]
Chr18:12377287 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) single nucleotide variant Spastic ataxia 5 [RCV001334609]|not provided [RCV000518642] Chr18:12358858 [GRCh38]
Chr18:12358857 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.802C>G (p.Leu268Val) single nucleotide variant not provided [RCV000597768] Chr18:12358894 [GRCh38]
Chr18:12358893 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly) single nucleotide variant Spastic ataxia 5 [RCV000415684] Chr18:12340230 [GRCh38]
Chr18:12340229 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.964G>A (p.Glu322Lys) single nucleotide variant not provided [RCV000413869] Chr18:12358732 [GRCh38]
Chr18:12358731 [GRCh37]
Chr18:18p11.21		 likely pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 copy number gain See cases [RCV000447320] Chr18:12254327..23262749 [GRCh37]
Chr18:18p11.21-q11.2		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006796.3(AFG3L2):c.1318+7G>A single nucleotide variant not specified [RCV000437626] Chr18:12352998 [GRCh38]
Chr18:12352997 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.*16C>T single nucleotide variant not specified [RCV000441337] Chr18:12329549 [GRCh38]
Chr18:12329548 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006796.3(AFG3L2):c.1933G>A (p.Gly645Ser) single nucleotide variant Inborn genetic diseases [RCV002522358]|not provided [RCV000431569] Chr18:12340248 [GRCh38]
Chr18:12340247 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1780G>A (p.Val594Ile) single nucleotide variant not provided [RCV000418471] Chr18:12340401 [GRCh38]
Chr18:12340400 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1981-14T>C single nucleotide variant not provided [RCV002524745]|not specified [RCV000439491] Chr18:12337549 [GRCh38]
Chr18:12337548 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) single nucleotide variant Inborn genetic diseases [RCV004022327]|not provided [RCV001796041]|not specified [RCV000429519] Chr18:12358855 [GRCh38]
Chr18:12358854 [GRCh37]
Chr18:18p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.854T>G (p.Met285Arg) single nucleotide variant not provided [RCV000436350] Chr18:12358842 [GRCh38]
Chr18:12358841 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-42G>A single nucleotide variant not specified [RCV000440034] Chr18:12377124 [GRCh38]
Chr18:12377123 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1407C>T (p.Phe469=) single nucleotide variant not specified [RCV000443685] Chr18:12351325 [GRCh38]
Chr18:12351324 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.344G>A (p.Gly115Asp) single nucleotide variant not provided [RCV000422616] Chr18:12367331 [GRCh38]
Chr18:12367330 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) single nucleotide variant Dystonic disorder [RCV001249481]|not provided [RCV000512691]|not specified [RCV000426314] Chr18:12356794 [GRCh38]
Chr18:12356793 [GRCh37]
Chr18:18p11.21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1646T>C (p.Ile549Thr) single nucleotide variant not provided [RCV000440574] Chr18:12348290 [GRCh38]
Chr18:12348289 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1536A>C (p.Leu512Phe) single nucleotide variant Inborn genetic diseases [RCV004022521]|not provided [RCV000440649] Chr18:12351101 [GRCh38]
Chr18:12351100 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1761C>T (p.His587=) single nucleotide variant not provided [RCV000902357]|not specified [RCV000440652] Chr18:12344150 [GRCh38]
Chr18:12344149 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_006796.3(AFG3L2):c.292+2T>C single nucleotide variant not provided [RCV000676678]|not specified [RCV002469166] Chr18:12370847 [GRCh38]
Chr18:12370846 [GRCh37]
Chr18:18p11.21		 likely pathogenic|uncertain significance
NM_006796.3(AFG3L2):c.1976C>T (p.Ala659Val) single nucleotide variant not provided [RCV000482649] Chr18:12340205 [GRCh38]
Chr18:12340204 [GRCh37]
Chr18:18p11.21		 likely pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
NM_006796.3(AFG3L2):c.580C>T (p.Arg194Cys) single nucleotide variant AFG3L2-related disorder [RCV003392311]|not provided [RCV000481682] Chr18:12363829 [GRCh38]
Chr18:12363828 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1153G>A (p.Gly385Ser) single nucleotide variant not provided [RCV000486261] Chr18:12356705 [GRCh38]
Chr18:12356704 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001809441]|not provided [RCV000482572] Chr18:12329612 [GRCh38]
Chr18:12329611 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1 copy number loss See cases [RCV000510514] Chr18:9671667..14854484 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006796.3(AFG3L2):c.552+15G>A single nucleotide variant not provided [RCV003767681]|not specified [RCV000605652] Chr18:12366950 [GRCh38]
Chr18:12366949 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1994_1995delinsTT (p.Gly665Val) indel Inborn genetic diseases [RCV000624881] Chr18:12337521..12337522 [GRCh38]
Chr18:12337520..12337521 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-44_-35del deletion not specified [RCV000610160] Chr18:12377117..12377126 [GRCh38]
Chr18:12377116..12377125 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1980+9A>C single nucleotide variant not specified [RCV000613216] Chr18:12340192 [GRCh38]
Chr18:12340191 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.400-10C>T single nucleotide variant not specified [RCV000613891] Chr18:12367127 [GRCh38]
Chr18:12367126 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1552+3G>A single nucleotide variant not specified [RCV000614582] Chr18:12351082 [GRCh38]
Chr18:12351081 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1071A>G (p.Leu357=) single nucleotide variant not specified [RCV000603915] Chr18:12356787 [GRCh38]
Chr18:12356786 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1164+18C>T single nucleotide variant not provided [RCV001697333]|not specified [RCV003403417] Chr18:12356676 [GRCh38]
Chr18:12356675 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1319-7C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV001126568]|not provided [RCV000513298]|not specified [RCV001288730] Chr18:12351420 [GRCh38]
Chr18:12351419 [GRCh37]
Chr18:18p11.21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) single nucleotide variant Optic atrophy 12 [RCV001253811]|Optic atrophy [RCV001249473]|Spastic ataxia 5 [RCV001253812]|not provided [RCV000658802] Chr18:12351347 [GRCh38]
Chr18:12351346 [GRCh37]
Chr18:18p11.21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1426+25_1426+30dup duplication not provided [RCV000676674] Chr18:12351275..12351276 [GRCh38]
Chr18:12351274..12351275 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:12361945-12425197)x1 copy number loss not provided [RCV000683973] Chr18:12361945..12425197 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys) single nucleotide variant Optic atrophy 12 [RCV001253809]|Optic atrophy [RCV000684752] Chr18:12351330 [GRCh38]
Chr18:12351329 [GRCh37]
Chr18:18p11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1650= (p.Glu550=) single nucleotide variant not provided [RCV000714233] Chr18:12348286 [GRCh38]
Chr18:12348285 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1339GTC[1] (p.Val448del) microsatellite not provided [RCV000713016] Chr18:12351388..12351390 [GRCh38]
Chr18:12351387..12351389 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1736C>T (p.Ala579Val) single nucleotide variant not provided [RCV000713017] Chr18:12344175 [GRCh38]
Chr18:12344174 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001796977]|not provided [RCV000713021] Chr18:12367310 [GRCh38]
Chr18:12367309 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) single nucleotide variant Inborn genetic diseases [RCV003362925]|not provided [RCV000713022]|not specified [RCV003403646] Chr18:12366981 [GRCh38]
Chr18:12366980 [GRCh37]
Chr18:18p11.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser) single nucleotide variant not provided [RCV000713014]|not specified [RCV003330917] Chr18:12356818 [GRCh38]
Chr18:12356817 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=) single nucleotide variant not provided [RCV000713015] Chr18:12353090 [GRCh38]
Chr18:12353089 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.2047A>G (p.Met683Val) single nucleotide variant not provided [RCV000713018] Chr18:12337469 [GRCh38]
Chr18:12337468 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2069G>A (p.Ser690Asn) single nucleotide variant not provided [RCV000713019] Chr18:12337447 [GRCh38]
Chr18:12337446 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2327T>C (p.Leu776Pro) single nucleotide variant not provided [RCV000713020] Chr18:12329632 [GRCh38]
Chr18:12329631 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.10:g.12377491G>A single nucleotide variant not provided [RCV001584732] Chr18:12377491 [GRCh38]
Chr18:12377490 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.634dup (p.Val212fs) duplication Spastic ataxia 5 [RCV001647160] Chr18:12360044..12360045 [GRCh38]
Chr18:12360043..12360044 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1712T>G (p.Val571Gly) single nucleotide variant Spastic ataxia [RCV001647161] Chr18:12344199 [GRCh38]
Chr18:12344198 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.1319-51G>T single nucleotide variant not provided [RCV001584658] Chr18:12351464 [GRCh38]
Chr18:12351463 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2316T>G (p.Leu772=) single nucleotide variant not provided [RCV000762224] Chr18:12329643 [GRCh38]
Chr18:12329642 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.58C>T (p.Gln20Ter) single nucleotide variant not provided [RCV000760763] Chr18:12377025 [GRCh38]
Chr18:12377024 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.627+174T>C single nucleotide variant not provided [RCV001586522] Chr18:12363608 [GRCh38]
Chr18:12363607 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) single nucleotide variant Inborn genetic diseases [RCV003246990]|not provided [RCV001576896] Chr18:12348320 [GRCh38]
Chr18:12348319 [GRCh37]
Chr18:18p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.115-50A>G single nucleotide variant not provided [RCV001551039] Chr18:12371741 [GRCh38]
Chr18:12371740 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del) microsatellite not provided [RCV000992827] Chr18:12351396..12351398 [GRCh38]
Chr18:12351395..12351397 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.786C>G (p.Leu262=) single nucleotide variant not provided [RCV000992836] Chr18:12358910 [GRCh38]
Chr18:12358909 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.215-113C>T single nucleotide variant not provided [RCV001575326] Chr18:12371039 [GRCh38]
Chr18:12371038 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) single nucleotide variant not provided [RCV000903457] Chr18:12351158 [GRCh38]
Chr18:12351157 [GRCh37]
Chr18:18p11.21		 benign|likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1780-196del deletion not provided [RCV000837511] Chr18:12340597 [GRCh38]
Chr18:12340596 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1981-154C>G single nucleotide variant not provided [RCV000837512] Chr18:12337689 [GRCh38]
Chr18:12337688 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) single nucleotide variant not provided [RCV000992831] Chr18:12371604 [GRCh38]
Chr18:12371603 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.753-273T>A single nucleotide variant not provided [RCV000843360] Chr18:12359216 [GRCh38]
Chr18:12359215 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1779+260T>C single nucleotide variant not provided [RCV000843364] Chr18:12343872 [GRCh38]
Chr18:12343871 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.752+191G>A single nucleotide variant not provided [RCV000833007] Chr18:12359736 [GRCh38]
Chr18:12359735 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1164+1G>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV000791162] Chr18:12356693 [GRCh38]
Chr18:12356692 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001126570]|not provided [RCV000826948] Chr18:12356793 [GRCh38]
Chr18:12356792 [GRCh37]
Chr18:18p11.21		 benign|likely benign
NM_006796.3(AFG3L2):c.1143C>T (p.Phe381=) single nucleotide variant not provided [RCV000826294] Chr18:12356715 [GRCh38]
Chr18:12356714 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2382A>G (p.Lys794=) single nucleotide variant not provided [RCV000842455] Chr18:12329577 [GRCh38]
Chr18:12329576 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1664-39G>A single nucleotide variant not provided [RCV000832749] Chr18:12344286 [GRCh38]
Chr18:12344285 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.214+252A>T single nucleotide variant not provided [RCV000833417] Chr18:12371340 [GRCh38]
Chr18:12371339 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1948T>G (p.Leu650Val) single nucleotide variant not provided [RCV001091987] Chr18:12340233 [GRCh38]
Chr18:12340232 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_006796.3(AFG3L2):c.1818T>C (p.Ala606=) single nucleotide variant not provided [RCV000896544] Chr18:12340363 [GRCh38]
Chr18:12340362 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.2(AFG3L2):c.-468T>C single nucleotide variant not provided [RCV000843358] Chr18:12377550 [GRCh38]
Chr18:12377549 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1554T>C (p.Gly518=) single nucleotide variant not provided [RCV000897849] Chr18:12348382 [GRCh38]
Chr18:12348381 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.2(AFG3L2):c.-357C>G single nucleotide variant not provided [RCV000831765] Chr18:12377439 [GRCh38]
Chr18:12377438 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.21(chr18:12362219-12423408)x1 copy number loss See cases [RCV001194590] Chr18:12362219..12423408 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.1712_1713del (p.Val571fs) microsatellite not provided [RCV000992828] Chr18:12344198..12344199 [GRCh38]
Chr18:12344197..12344198 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1981-3C>A single nucleotide variant not provided [RCV000992829] Chr18:12337538 [GRCh38]
Chr18:12337537 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.753-55T>C single nucleotide variant Optic atrophy 12 [RCV001549082]|Spastic ataxia 5 [RCV001549083]|Spinocerebellar ataxia type 28 [RCV001549084]|not provided [RCV001615299] Chr18:12358998 [GRCh38]
Chr18:12358997 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1394G>A (p.Arg465Lys) single nucleotide variant Optic atrophy [RCV001249474] Chr18:12351338 [GRCh38]
Chr18:12351337 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.113C>A (p.Thr38Lys) single nucleotide variant not provided [RCV000992826] Chr18:12376970 [GRCh38]
Chr18:12376969 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.31C>G (p.Arg11Gly) single nucleotide variant Inborn genetic diseases [RCV004030148]|not provided [RCV000992833] Chr18:12377052 [GRCh38]
Chr18:12377051 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.433A>T (p.Met145Leu) single nucleotide variant not provided [RCV000992834] Chr18:12367084 [GRCh38]
Chr18:12367083 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe) single nucleotide variant Optic atrophy [RCV001249479] Chr18:12356822 [GRCh38]
Chr18:12356821 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000995691]|not provided [RCV001091986] Chr18:12337451 [GRCh38]
Chr18:12337450 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) single nucleotide variant Spinocerebellar ataxia type 28 [RCV000995692] Chr18:12356739 [GRCh38]
Chr18:12356738 [GRCh37]
Chr18:18p11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1237G>A (p.Gly413Arg) single nucleotide variant not provided [RCV000996649] Chr18:12353086 [GRCh38]
Chr18:12353085 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1202C>T (p.Pro401Leu) single nucleotide variant not provided [RCV000996650] Chr18:12353121 [GRCh38]
Chr18:12353120 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1026+1G>A single nucleotide variant not provided [RCV000996651] Chr18:12358669 [GRCh38]
Chr18:12358668 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.214+3A>G single nucleotide variant not provided [RCV000996652] Chr18:12371589 [GRCh38]
Chr18:12371588 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001126569] Chr18:12356769 [GRCh38]
Chr18:12356768 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.2(AFG3L2):c.-179C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV001124005] Chr18:12377261 [GRCh38]
Chr18:12377260 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.780G>A (p.Thr260=) single nucleotide variant not provided [RCV003104459] Chr18:12358916 [GRCh38]
Chr18:12358915 [GRCh37]
Chr18:18p11.21		 likely benign
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) single nucleotide variant Spinocerebellar ataxia type 28 [RCV002495988]|not provided [RCV001663507] Chr18:12329645 [GRCh38]
Chr18:12329644 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.214+158T>C single nucleotide variant not provided [RCV001545885] Chr18:12371434 [GRCh38]
Chr18:12371433 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1165-225C>T single nucleotide variant not provided [RCV001657311] Chr18:12353383 [GRCh38]
Chr18:12353382 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.115-62G>T single nucleotide variant not provided [RCV001560512] Chr18:12371753 [GRCh38]
Chr18:12371752 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2176-238_2176-235del microsatellite not provided [RCV001560641] Chr18:12330018..12330021 [GRCh38]
Chr18:12330017..12330020 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.627+98G>A single nucleotide variant not provided [RCV001615486] Chr18:12363684 [GRCh38]
Chr18:12363683 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.293-348G>T single nucleotide variant not provided [RCV001585615] Chr18:12367730 [GRCh38]
Chr18:12367729 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.552+293G>A single nucleotide variant not provided [RCV001561426] Chr18:12366672 [GRCh38]
Chr18:12366671 [GRCh37]
Chr18:18p11.21		 likely benign
NC_000018.10:g.12377322A>T single nucleotide variant not provided [RCV001593551] Chr18:12377322 [GRCh38]
Chr18:12377321 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2175+130T>A single nucleotide variant not provided [RCV001596811] Chr18:12337211 [GRCh38]
Chr18:12337210 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.628-173A>G single nucleotide variant not provided [RCV001577082] Chr18:12360224 [GRCh38]
Chr18:12360223 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val) single nucleotide variant not provided [RCV001663508] Chr18:12358683 [GRCh38]
Chr18:12358682 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1780-4C>T single nucleotide variant not provided [RCV001663509] Chr18:12340405 [GRCh38]
Chr18:12340404 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.115-192C>T single nucleotide variant not provided [RCV001594211] Chr18:12371883 [GRCh38]
Chr18:12371882 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1663+193C>T single nucleotide variant not provided [RCV001575297] Chr18:12348080 [GRCh38]
Chr18:12348079 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1980+233G>A single nucleotide variant not provided [RCV001650446] Chr18:12339968 [GRCh38]
Chr18:12339967 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.752+170A>G single nucleotide variant not provided [RCV001587538] Chr18:12359757 [GRCh38]
Chr18:12359756 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.553-95G>A single nucleotide variant not provided [RCV001650139] Chr18:12363951 [GRCh38]
Chr18:12363950 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1319-279T>C single nucleotide variant not provided [RCV001570882] Chr18:12351692 [GRCh38]
Chr18:12351691 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.78C>A (p.Gly26=) single nucleotide variant not provided [RCV000889119] Chr18:12377005 [GRCh38]
Chr18:12377004 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly) single nucleotide variant not provided [RCV000908677] Chr18:12329764 [GRCh38]
Chr18:12329763 [GRCh37]
Chr18:18p11.21		 benign|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.1353C>T (p.Ala451=) single nucleotide variant not provided [RCV000904524] Chr18:12351379 [GRCh38]
Chr18:12351378 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001126571] Chr18:12358805 [GRCh38]
Chr18:12358804 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu) single nucleotide variant Optic atrophy 12 [RCV001253814]|Optic atrophy [RCV001249476] Chr18:12351096 [GRCh38]
Chr18:12351095 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001122822]|not provided [RCV003769190] Chr18:12340385 [GRCh38]
Chr18:12340384 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001809882]|not provided [RCV000992832] Chr18:12337402 [GRCh38]
Chr18:12337401 [GRCh37]
Chr18:18p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.863T>C (p.Leu288Pro) single nucleotide variant not provided [RCV000992837] Chr18:12358833 [GRCh38]
Chr18:12358832 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.10:g.12377426A>G single nucleotide variant not provided [RCV001718538] Chr18:12377426 [GRCh38]
Chr18:12377425 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1165-21T>A single nucleotide variant not provided [RCV001656957] Chr18:12353179 [GRCh38]
Chr18:12353178 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) single nucleotide variant Inborn genetic diseases [RCV004039362]|Spinocerebellar ataxia type 28 [RCV001810096]|not provided [RCV001570064]|not specified [RCV004587182] Chr18:12360045 [GRCh38]
Chr18:12360044 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.792C>T (p.Ile264=) single nucleotide variant not provided [RCV001570426] Chr18:12358904 [GRCh38]
Chr18:12358903 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1663+265C>T single nucleotide variant not provided [RCV001558013] Chr18:12348008 [GRCh38]
Chr18:12348007 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1026+189T>G single nucleotide variant not provided [RCV001559939] Chr18:12358481 [GRCh38]
Chr18:12358480 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.215-82A>G single nucleotide variant not provided [RCV001554965] Chr18:12371008 [GRCh38]
Chr18:12371007 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001849198]|not provided [RCV001723389] Chr18:12340320 [GRCh38]
Chr18:12340319 [GRCh37]
Chr18:18p11.21		 pathogenic|uncertain significance
NM_006796.3(AFG3L2):c.115-4G>A single nucleotide variant not provided [RCV001575766] Chr18:12371695 [GRCh38]
Chr18:12371694 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1663+273G>A single nucleotide variant not provided [RCV001652355] Chr18:12348000 [GRCh38]
Chr18:12347999 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1319-150dup duplication not provided [RCV001677615] Chr18:12351549..12351550 [GRCh38]
Chr18:12351548..12351549 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.552+27G>A single nucleotide variant not provided [RCV001613625] Chr18:12366938 [GRCh38]
Chr18:12366937 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.292+94C>T single nucleotide variant not provided [RCV001677298] Chr18:12370755 [GRCh38]
Chr18:12370754 [GRCh37]
Chr18:18p11.21		 benign
NC_000018.10:g.12377416C>T single nucleotide variant not provided [RCV001635785] Chr18:12377416 [GRCh38]
Chr18:12377415 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1319-264C>G single nucleotide variant not provided [RCV001677209] Chr18:12351677 [GRCh38]
Chr18:12351676 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001123909] Chr18:12351121 [GRCh38]
Chr18:12351120 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) microsatellite Spastic ataxia 5 [RCV001253815] Chr18:12340279..12340280 [GRCh38]
Chr18:12340278..12340279 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001122823]|not provided [RCV002558214] Chr18:12344205 [GRCh38]
Chr18:12344204 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-139T>C single nucleotide variant Spinocerebellar ataxia type 28 [RCV001122942] Chr18:12377221 [GRCh38]
Chr18:12377220 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.-78C>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV001122941] Chr18:12377160 [GRCh38]
Chr18:12377159 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001128629]|not provided [RCV003117775] Chr18:12359961 [GRCh38]
Chr18:12359960 [GRCh37]
Chr18:18p11.21		 likely benign|uncertain significance
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001128630] Chr18:12370874 [GRCh38]
Chr18:12370873 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1664-247C>T single nucleotide variant not provided [RCV001589577] Chr18:12344494 [GRCh38]
Chr18:12344493 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1981-228A>G single nucleotide variant not provided [RCV001714724] Chr18:12337763 [GRCh38]
Chr18:12337762 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.293-61A>G single nucleotide variant not provided [RCV001671573] Chr18:12367443 [GRCh38]
Chr18:12367442 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1164+252C>T single nucleotide variant not provided [RCV001725369] Chr18:12356442 [GRCh38]
Chr18:12356441 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.752+230T>C single nucleotide variant not provided [RCV001546735] Chr18:12359697 [GRCh38]
Chr18:12359696 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1663+181T>C single nucleotide variant not provided [RCV001713645] Chr18:12348092 [GRCh38]
Chr18:12348091 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1130T>C (p.Phe377Ser) single nucleotide variant Optic atrophy [RCV001249480] Chr18:12356728 [GRCh38]
Chr18:12356727 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile) single nucleotide variant Optic atrophy [RCV001249478] Chr18:12353034 [GRCh38]
Chr18:12353033 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) single nucleotide variant Optic atrophy 12 [RCV001253813]|Sensorineural hearing loss disorder [RCV001249475] Chr18:12353103 [GRCh38]
Chr18:12353102 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.2(AFG3L2):c.-151C>T single nucleotide variant Spinocerebellar ataxia type 28 [RCV001124004] Chr18:12377233 [GRCh38]
Chr18:12377232 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.*379T>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV001128527] Chr18:12329186 [GRCh38]
Chr18:12329185 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) single nucleotide variant Optic atrophy 12 [RCV001197207]|not provided [RCV002559257] Chr18:12337486 [GRCh38]
Chr18:12337485 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys) single nucleotide variant Spastic ataxia 5 [RCV001253808] Chr18:12340323 [GRCh38]
Chr18:12340322 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001252969] Chr18:12370897 [GRCh38]
Chr18:12370896 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu) single nucleotide variant Optic atrophy 12 [RCV001253810] Chr18:12358686 [GRCh38]
Chr18:12358685 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu) single nucleotide variant Spastic ataxia 5 [RCV001253816] Chr18:12358780 [GRCh38]
Chr18:12358779 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.342C>T (p.Gly114=) single nucleotide variant not provided [RCV003718418]|not specified [RCV001663511] Chr18:12367333 [GRCh38]
Chr18:12367332 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2222T>C (p.Met741Thr) single nucleotide variant not specified [RCV004690828] Chr18:12329737 [GRCh38]
Chr18:12329736 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2063C>T (p.Pro688Leu) single nucleotide variant not provided [RCV001663510] Chr18:12337453 [GRCh38]
Chr18:12337452 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
NM_006796.3(AFG3L2):c.1765G>C (p.Asp589His) single nucleotide variant Inborn genetic diseases [RCV001266718]|not provided [RCV003660883] Chr18:12344146 [GRCh38]
Chr18:12344145 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001331644]|not provided [RCV003135988] Chr18:12377030 [GRCh38]
Chr18:12377029 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001773581]|not provided [RCV001268617] Chr18:12337454 [GRCh38]
Chr18:12337453 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic
NM_006796.3(AFG3L2):c.1383C>T (p.Pro461=) single nucleotide variant not provided [RCV001549437] Chr18:12351349 [GRCh38]
Chr18:12351348 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2025T>A (p.Phe675Leu) single nucleotide variant not provided [RCV001288731] Chr18:12337491 [GRCh38]
Chr18:12337490 [GRCh37]
Chr18:18p11.21		 likely pathogenic|uncertain significance
NM_006796.3(AFG3L2):c.121C>T (p.Arg41Ter) single nucleotide variant not provided [RCV001320974] Chr18:12371685 [GRCh38]
Chr18:12371684 [GRCh37]
Chr18:18p11.21		 pathogenic|uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr) single nucleotide variant Spastic ataxia 5 [RCV001334608]|not provided [RCV002546692] Chr18:12377076 [GRCh38]
Chr18:12377075 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1779+1G>A single nucleotide variant not provided [RCV002922848] Chr18:12344131 [GRCh38]
Chr18:12344130 [GRCh37]
Chr18:18p11.21		 pathogenic|likely pathogenic|uncertain significance
NM_006796.3(AFG3L2):c.2073_2096dup (p.Glu691_Asp698dup) duplication not provided [RCV001281649] Chr18:12337419..12337420 [GRCh38]
Chr18:12337418..12337419 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.1330A>G (p.Thr444Ala) single nucleotide variant not provided [RCV001311897] Chr18:12351402 [GRCh38]
Chr18:12351401 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1879A>T (p.Met627Leu) single nucleotide variant not provided [RCV001311896] Chr18:12340302 [GRCh38]
Chr18:12340301 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.195C>G (p.Phe65Leu) single nucleotide variant not provided [RCV001359415] Chr18:12371611 [GRCh38]
Chr18:12371610 [GRCh37]
Chr18:18p11.21		 uncertain significance
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.2176-142C>T single nucleotide variant not provided [RCV001537226] Chr18:12329925 [GRCh38]
Chr18:12329924 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.2011G>T (p.Gly671Trp) single nucleotide variant not provided [RCV001543437] Chr18:12337505 [GRCh38]
Chr18:12337504 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.293-225G>A single nucleotide variant not provided [RCV001681577] Chr18:12367607 [GRCh38]
Chr18:12367606 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.215-295C>T single nucleotide variant not provided [RCV001581692] Chr18:12371221 [GRCh38]
Chr18:12371220 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1895G>A (p.Arg632Gln) single nucleotide variant Spastic ataxia [RCV001647156] Chr18:12340286 [GRCh38]
Chr18:12340285 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.1165-251C>T single nucleotide variant not provided [RCV001618037] Chr18:12353409 [GRCh38]
Chr18:12353408 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.2176-273G>A single nucleotide variant not provided [RCV001696746] Chr18:12330056 [GRCh38]
Chr18:12330055 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1770G>T (p.Pro590=) single nucleotide variant not provided [RCV003108918] Chr18:12344141 [GRCh38]
Chr18:12344140 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.346G>A (p.Gly116Arg) single nucleotide variant not provided [RCV001756668] Chr18:12367329 [GRCh38]
Chr18:12367328 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.811A>G (p.Ile271Val) single nucleotide variant Inborn genetic diseases [RCV003163802]|not provided [RCV001727060] Chr18:12358885 [GRCh38]
Chr18:12358884 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.148A>G (p.Ser50Gly) single nucleotide variant not provided [RCV001763266] Chr18:12371658 [GRCh38]
Chr18:12371657 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001787700] Chr18:12337454 [GRCh38]
Chr18:12337453 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.1114G>A (p.Val372Ile) single nucleotide variant not provided [RCV001767732] Chr18:12356744 [GRCh38]
Chr18:12356743 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_006796.3(AFG3L2):c.2024T>C (p.Phe675Ser) single nucleotide variant not provided [RCV001772958] Chr18:12337492 [GRCh38]
Chr18:12337491 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.76G>A (p.Gly26Ser) single nucleotide variant not provided [RCV001769434]|not specified [RCV004690128] Chr18:12377007 [GRCh38]
Chr18:12377006 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.52G>C (p.Gly18Arg) single nucleotide variant not provided [RCV001765310] Chr18:12377031 [GRCh38]
Chr18:12377030 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) single nucleotide variant not provided [RCV001733428] Chr18:12353104 [GRCh38]
Chr18:12353103 [GRCh37]
Chr18:18p11.21		 likely pathogenic|conflicting interpretations of pathogenicity
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001787316] Chr18:12371645 [GRCh38]
Chr18:12371644 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2167G>T (p.Val723Leu) single nucleotide variant not provided [RCV001797541] Chr18:12337349 [GRCh38]
Chr18:12337348 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001809171] Chr18:12353039 [GRCh38]
Chr18:12353038 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.21(chr18:12361946-12413985)x1 copy number loss not provided [RCV001836542] Chr18:12361946..12413985 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe) single nucleotide variant Spinocerebellar ataxia type 28 [RCV001849217] Chr18:12337373 [GRCh38]
Chr18:12337372 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.114+35C>T single nucleotide variant not provided [RCV001847400] Chr18:12376934 [GRCh38]
Chr18:12376933 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NC_000018.9:g.(?_10454979)_(12725530_?)dup duplication not provided [RCV001984500] Chr18:10454979..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
NC_000018.9:g.(?_12363761)_(12377081_?)del deletion not provided [RCV001960082] Chr18:12363761..12377081 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1496C>T (p.Thr499Ile) single nucleotide variant not provided [RCV002211425] Chr18:12351141 [GRCh38]
Chr18:12351140 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.355G>A (p.Gly119Ser) single nucleotide variant not provided [RCV002211426] Chr18:12367320 [GRCh38]
Chr18:12367319 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.630A>G (p.Gln210=) single nucleotide variant not provided [RCV002146612] Chr18:12360049 [GRCh38]
Chr18:12360048 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1938T>C (p.Ala646=) single nucleotide variant not provided [RCV002086469] Chr18:12340243 [GRCh38]
Chr18:12340242 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1980+18T>A single nucleotide variant not provided [RCV002126531] Chr18:12340183 [GRCh38]
Chr18:12340182 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.321T>A (p.Ser107=) single nucleotide variant not provided [RCV002148213] Chr18:12367354 [GRCh38]
Chr18:12367353 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) single nucleotide variant Spinocerebellar ataxia type 28 [RCV002508979]|not provided [RCV002222799] Chr18:12351354 [GRCh38]
Chr18:12351353 [GRCh37]
Chr18:18p11.21		 pathogenic|not provided
NM_006796.3(AFG3L2):c.579G>A (p.Lys193=) single nucleotide variant not provided [RCV002122170] Chr18:12363830 [GRCh38]
Chr18:12363829 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.487C>T (p.Leu163Phe) single nucleotide variant not provided [RCV003109934] Chr18:12367030 [GRCh38]
Chr18:12367029 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.9:g.(?_12329564)_(12377081_?)dup duplication not provided [RCV003109570] Chr18:12329564..12377081 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1679C>T (p.Thr560Met) single nucleotide variant not provided [RCV003112296] Chr18:12344232 [GRCh38]
Chr18:12344231 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.456G>T (p.Leu152=) single nucleotide variant not provided [RCV003115784] Chr18:12367061 [GRCh38]
Chr18:12367060 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.46C>T (p.Pro16Ser) single nucleotide variant not provided [RCV003121308] Chr18:12377037 [GRCh38]
Chr18:12377036 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.9:g.(?_10454979)_(12725530_?)del deletion not provided [RCV003119975] Chr18:10454979..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1013C>A (p.Ala338Glu) single nucleotide variant Optic atrophy 12 [RCV003152939] Chr18:12358683 [GRCh38]
Chr18:12358682 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn) single nucleotide variant Spinocerebellar ataxia type 28 [RCV002275381] Chr18:12337451 [GRCh38]
Chr18:12337450 [GRCh37]
Chr18:18p11.21		 not provided
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs) duplication Spinocerebellar ataxia type 28 [RCV002275382] Chr18:12340222..12340223 [GRCh38]
Chr18:12340221..12340222 [GRCh37]
Chr18:18p11.21		 not provided
NM_006796.3(AFG3L2):c.173T>C (p.Ile58Thr) single nucleotide variant not provided [RCV002279133] Chr18:12371633 [GRCh38]
Chr18:12371632 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1199C>G (p.Ala400Gly) single nucleotide variant not provided [RCV002292966] Chr18:12353124 [GRCh38]
Chr18:12353123 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg) single nucleotide variant Spinocerebellar ataxia type 28 [RCV002283678] Chr18:12337360 [GRCh38]
Chr18:12337359 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys) single nucleotide variant Spinocerebellar ataxia type 28 [RCV002289253]|not provided [RCV003128855] Chr18:12348320 [GRCh38]
Chr18:12348319 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2218G>T (p.Asp740Tyr) single nucleotide variant Inborn genetic diseases [RCV004617024]|not provided [RCV002263116] Chr18:12329741 [GRCh38]
Chr18:12329740 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3 copy number gain not provided [RCV002472558] Chr18:11290617..15106305 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys) single nucleotide variant not provided [RCV002474340] Chr18:12329609 [GRCh38]
Chr18:12329608 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2060A>C (p.Lys687Thr) single nucleotide variant not provided [RCV002474343] Chr18:12337456 [GRCh38]
Chr18:12337455 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.937T>C (p.Cys313Arg) single nucleotide variant not provided [RCV002469687] Chr18:12358759 [GRCh38]
Chr18:12358758 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly) single nucleotide variant not provided [RCV002474339] Chr18:12344169 [GRCh38]
Chr18:12344168 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=) single nucleotide variant not provided [RCV002474341] Chr18:12358829 [GRCh38]
Chr18:12358828 [GRCh37]
Chr18:18p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=) single nucleotide variant not provided [RCV002474344] Chr18:12351125 [GRCh38]
Chr18:12351124 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2295C>T (p.Ser765=) single nucleotide variant not provided [RCV002474342] Chr18:12329664 [GRCh38]
Chr18:12329663 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:12238850-12454719)x3 copy number gain not provided [RCV002475011] Chr18:12238850..12454719 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1814A>G (p.Tyr605Cys) single nucleotide variant not provided [RCV002473246] Chr18:12340367 [GRCh38]
Chr18:12340366 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1684G>C (p.Val562Leu) single nucleotide variant not provided [RCV002301000] Chr18:12344227 [GRCh38]
Chr18:12344226 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.21(chr18:12218695-12570235)x3 copy number gain not provided [RCV002475784] Chr18:12218695..12570235 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1342G>A (p.Val448Ile) single nucleotide variant Inborn genetic diseases [RCV002968291]|not provided [RCV003886608] Chr18:12351390 [GRCh38]
Chr18:12351389 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.472A>G (p.Met158Val) single nucleotide variant not provided [RCV002617274] Chr18:12367045 [GRCh38]
Chr18:12367044 [GRCh37]
Chr18:18p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.437T>G (p.Phe146Cys) single nucleotide variant Inborn genetic diseases [RCV002860874] Chr18:12367080 [GRCh38]
Chr18:12367079 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1730G>C (p.Gly577Ala) single nucleotide variant not provided [RCV002776315] Chr18:12344181 [GRCh38]
Chr18:12344180 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.14G>C (p.Cys5Ser) single nucleotide variant Inborn genetic diseases [RCV002861010] Chr18:12377069 [GRCh38]
Chr18:12377068 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.840G>A (p.Arg280=) single nucleotide variant not provided [RCV002750787] Chr18:12358856 [GRCh38]
Chr18:12358855 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2359A>G (p.Lys787Glu) single nucleotide variant Inborn genetic diseases [RCV002614048]|not provided [RCV002614047] Chr18:12329600 [GRCh38]
Chr18:12329599 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2061A>G (p.Lys687=) single nucleotide variant not provided [RCV002614604] Chr18:12337455 [GRCh38]
Chr18:12337454 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.114+3G>A single nucleotide variant not provided [RCV003033017] Chr18:12376966 [GRCh38]
Chr18:12376965 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.215-14dup duplication not provided [RCV002755791] Chr18:12370939..12370940 [GRCh38]
Chr18:12370938..12370939 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.122G>A (p.Arg41Gln) single nucleotide variant Inborn genetic diseases [RCV002689999] Chr18:12371684 [GRCh38]
Chr18:12371683 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.215-11T>G single nucleotide variant not provided [RCV002863388] Chr18:12370937 [GRCh38]
Chr18:12370936 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.261T>C (p.Ser87=) single nucleotide variant not provided [RCV002947462] Chr18:12370880 [GRCh38]
Chr18:12370879 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.144G>A (p.Arg48=) single nucleotide variant not provided [RCV002616680] Chr18:12371662 [GRCh38]
Chr18:12371661 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter) single nucleotide variant Spastic ataxia 5 [RCV002509896]|not provided [RCV003146577] Chr18:12344162 [GRCh38]
Chr18:12344161 [GRCh37]
Chr18:18p11.21		 likely pathogenic
GRCh37/hg19 18p11.21(chr18:12249702-12570235)x3 copy number gain not provided [RCV002475720] Chr18:12249702..12570235 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.115-18T>C single nucleotide variant not provided [RCV002696089] Chr18:12371709 [GRCh38]
Chr18:12371708 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.684T>C (p.Thr228=) single nucleotide variant not provided [RCV002780335] Chr18:12359995 [GRCh38]
Chr18:12359994 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.317G>A (p.Arg106His) single nucleotide variant not provided [RCV002638319] Chr18:12367358 [GRCh38]
Chr18:12367357 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2172G>T (p.Glu724Asp) single nucleotide variant not provided [RCV002820658] Chr18:12337344 [GRCh38]
Chr18:12337343 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1239A>G (p.Gly413=) single nucleotide variant not provided [RCV002923886] Chr18:12353084 [GRCh38]
Chr18:12353083 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1780-9A>C single nucleotide variant not specified [RCV002510353] Chr18:12340410 [GRCh38]
Chr18:12340409 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1146T>C (p.Val382=) single nucleotide variant not provided [RCV003077923] Chr18:12356712 [GRCh38]
Chr18:12356711 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1318+6T>A single nucleotide variant Inborn genetic diseases [RCV002927062]|not provided [RCV002918652] Chr18:12352999 [GRCh38]
Chr18:12352998 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1961C>A (p.Thr654Asn) single nucleotide variant not provided [RCV002796891] Chr18:12340220 [GRCh38]
Chr18:12340219 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu) single nucleotide variant not provided [RCV003078520] Chr18:12329647 [GRCh38]
Chr18:12329646 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.397A>C (p.Lys133Gln) single nucleotide variant not provided [RCV002668018] Chr18:12367278 [GRCh38]
Chr18:12367277 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2129A>T (p.Lys710Ile) single nucleotide variant not provided [RCV002928376] Chr18:12337387 [GRCh38]
Chr18:12337386 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1993G>C (p.Gly665Arg) single nucleotide variant not provided [RCV002829903] Chr18:12337523 [GRCh38]
Chr18:12337522 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.715A>G (p.Asn239Asp) single nucleotide variant AFG3L2-related disorder [RCV004756415]|not provided [RCV002745844] Chr18:12359964 [GRCh38]
Chr18:12359963 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.99G>T (p.Gln33His) single nucleotide variant not provided [RCV002959082] Chr18:12376984 [GRCh38]
Chr18:12376983 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.662C>T (p.Thr221Ile) single nucleotide variant not provided [RCV003026089] Chr18:12360017 [GRCh38]
Chr18:12360016 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.704T>C (p.Ile235Thr) single nucleotide variant Inborn genetic diseases [RCV002826625]|not provided [RCV003329467] Chr18:12359975 [GRCh38]
Chr18:12359974 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.82G>A (p.Val28Met) single nucleotide variant not provided [RCV002594966] Chr18:12377001 [GRCh38]
Chr18:12377000 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.293-9T>C single nucleotide variant not provided [RCV002765665] Chr18:12367391 [GRCh38]
Chr18:12367390 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2252C>T (p.Ala751Val) single nucleotide variant Inborn genetic diseases [RCV002786910]|not provided [RCV003229109] Chr18:12329707 [GRCh38]
Chr18:12329706 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1027-8A>G single nucleotide variant not provided [RCV002626746] Chr18:12356839 [GRCh38]
Chr18:12356838 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.873C>T (p.Val291=) single nucleotide variant not provided [RCV002740621] Chr18:12358823 [GRCh38]
Chr18:12358822 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.292+20T>C single nucleotide variant not provided [RCV002574240] Chr18:12370829 [GRCh38]
Chr18:12370828 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1650A>T (p.Glu550Asp) single nucleotide variant not provided [RCV002597142] Chr18:12348286 [GRCh38]
Chr18:12348285 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.633C>G (p.Tyr211Ter) single nucleotide variant not provided [RCV002643785] Chr18:12360046 [GRCh38]
Chr18:12360045 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.293A>C (p.Glu98Ala) single nucleotide variant not provided [RCV003057491] Chr18:12367382 [GRCh38]
Chr18:12367381 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1959A>G (p.Val653=) single nucleotide variant not provided [RCV002872588]|not specified [RCV004587381] Chr18:12340222 [GRCh38]
Chr18:12340221 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1553-16T>C single nucleotide variant not provided [RCV002602149] Chr18:12348399 [GRCh38]
Chr18:12348398 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1023A>G (p.Pro341=) single nucleotide variant not provided [RCV003091083] Chr18:12358673 [GRCh38]
Chr18:12358672 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.549A>G (p.Gly183=) single nucleotide variant not provided [RCV002576917] Chr18:12366968 [GRCh38]
Chr18:12366967 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1389G>T (p.Leu463=) single nucleotide variant not provided [RCV002857329] Chr18:12351343 [GRCh38]
Chr18:12351342 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.346G>C (p.Gly116Arg) single nucleotide variant not provided [RCV003088936] Chr18:12367329 [GRCh38]
Chr18:12367328 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1971A>G (p.Ala657=) single nucleotide variant not provided [RCV003047835] Chr18:12340210 [GRCh38]
Chr18:12340209 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1026+7T>C single nucleotide variant not provided [RCV002580766] Chr18:12358663 [GRCh38]
Chr18:12358662 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1828C>G (p.Pro610Ala) single nucleotide variant Inborn genetic diseases [RCV002717460] Chr18:12340353 [GRCh38]
Chr18:12340352 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1026+14T>A single nucleotide variant not provided [RCV002577474] Chr18:12358656 [GRCh38]
Chr18:12358655 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.605C>G (p.Pro202Arg) single nucleotide variant not provided [RCV002720579] Chr18:12363804 [GRCh38]
Chr18:12363803 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1553-7T>C single nucleotide variant not provided [RCV002746342] Chr18:12348390 [GRCh38]
Chr18:12348389 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1426+10T>A single nucleotide variant not provided [RCV002933932] Chr18:12351296 [GRCh38]
Chr18:12351295 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1164A>G (p.Arg388=) single nucleotide variant not provided [RCV002649487] Chr18:12356694 [GRCh38]
Chr18:12356693 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.114+17C>T single nucleotide variant not provided [RCV002725292] Chr18:12376952 [GRCh38]
Chr18:12376951 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.783G>A (p.Val261=) single nucleotide variant not provided [RCV002726100] Chr18:12358913 [GRCh38]
Chr18:12358912 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1779+10G>A single nucleotide variant not provided [RCV002721479] Chr18:12344122 [GRCh38]
Chr18:12344121 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.27G>C (p.Trp9Cys) single nucleotide variant not provided [RCV002585667] Chr18:12377056 [GRCh38]
Chr18:12377055 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.417C>T (p.Asp139=) single nucleotide variant not provided [RCV002606722] Chr18:12367100 [GRCh38]
Chr18:12367099 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1027-12T>C single nucleotide variant not provided [RCV002584273] Chr18:12356843 [GRCh38]
Chr18:12356842 [GRCh37]
Chr18:18p11.21		 benign
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_006796.3(AFG3L2):c.1528G>A (p.Ala510Thr) single nucleotide variant not provided [RCV003221578] Chr18:12351109 [GRCh38]
Chr18:12351108 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.869G>A (p.Ser290Asn) single nucleotide variant not provided [RCV003141250] Chr18:12358827 [GRCh38]
Chr18:12358826 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.529A>G (p.Asn177Asp) single nucleotide variant Inborn genetic diseases [RCV003212706] Chr18:12366988 [GRCh38]
Chr18:12366987 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1725A>T (p.Glu575Asp) single nucleotide variant not provided [RCV003319702] Chr18:12344186 [GRCh38]
Chr18:12344185 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1081A>G (p.Thr361Ala) single nucleotide variant not provided [RCV003322040] Chr18:12356777 [GRCh38]
Chr18:12356776 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1028G>T (p.Gly343Val) single nucleotide variant not provided [RCV003327988] Chr18:12356830 [GRCh38]
Chr18:12356829 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1208T>C (p.Ile403Thr) single nucleotide variant not provided [RCV003321139] Chr18:12353115 [GRCh38]
Chr18:12353114 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.570C>T (p.Val190=) single nucleotide variant not provided [RCV003326983] Chr18:12363839 [GRCh38]
Chr18:12363838 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1270C>T (p.Gln424Ter) single nucleotide variant Optic atrophy 12 [RCV003334466] Chr18:12353053 [GRCh38]
Chr18:12353052 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.762G>T (p.Leu254=) single nucleotide variant not provided [RCV003421602] Chr18:12358934 [GRCh38]
Chr18:12358933 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2218G>C (p.Asp740His) single nucleotide variant not provided [RCV003443455] Chr18:12329741 [GRCh38]
Chr18:12329740 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.272A>G (p.Glu91Gly) single nucleotide variant Inborn genetic diseases [RCV003351407]|not provided [RCV004763663] Chr18:12370869 [GRCh38]
Chr18:12370868 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu) single nucleotide variant not specified [RCV003388416] Chr18:12329587 [GRCh38]
Chr18:12329586 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=) single nucleotide variant not provided [RCV003732784] Chr18:12329601 [GRCh38]
Chr18:12329600 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.2364G>A (p.Glu788=) single nucleotide variant not provided [RCV003701567] Chr18:12329595 [GRCh38]
Chr18:12329594 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.55C>G (p.Leu19Val) single nucleotide variant not provided [RCV003543846] Chr18:12377028 [GRCh38]
Chr18:12377027 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr) single nucleotide variant not provided [RCV004723331]|not specified [RCV003479782] Chr18:12337376 [GRCh38]
Chr18:12337375 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu) single nucleotide variant not provided [RCV003482840] Chr18:12353146 [GRCh38]
Chr18:12353145 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.283G>C (p.Glu95Gln) single nucleotide variant not provided [RCV003421603] Chr18:12370858 [GRCh38]
Chr18:12370857 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.632A>G (p.Tyr211Cys) single nucleotide variant not provided [RCV003423038] Chr18:12360047 [GRCh38]
Chr18:12360046 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=) single nucleotide variant not provided [RCV003482841] Chr18:12351346 [GRCh38]
Chr18:12351345 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1165-15T>C single nucleotide variant not specified [RCV003404906] Chr18:12353173 [GRCh38]
Chr18:12353172 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr) single nucleotide variant Glycogen storage disease type III [RCV004527457]|Optic atrophy 12 [RCV003988116]|Spastic ataxia 5 [RCV003447707] Chr18:12344197 [GRCh38]
Chr18:12344196 [GRCh37]
Chr18:18p11.21		 conflicting interpretations of pathogenicity|uncertain significance
NM_006796.3(AFG3L2):c.858C>T (p.Gly286=) single nucleotide variant not provided [RCV003423037] Chr18:12358838 [GRCh38]
Chr18:12358837 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.763C>T (p.Leu255=) single nucleotide variant not provided [RCV003421601] Chr18:12358933 [GRCh38]
Chr18:12358932 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.361A>C (p.Lys121Gln) single nucleotide variant Spastic ataxia 5 [RCV003388748] Chr18:12367314 [GRCh38]
Chr18:12367313 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2132G>T (p.Arg711Ile) single nucleotide variant not provided [RCV003413418] Chr18:12337384 [GRCh38]
Chr18:12337383 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr) single nucleotide variant Spastic ataxia 5 [RCV003388747]|not provided [RCV003491375] Chr18:12329565 [GRCh38]
Chr18:12329564 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1144G>A (p.Val382Ile) single nucleotide variant Inborn genetic diseases [RCV004366827]|not provided [RCV003830006] Chr18:12356714 [GRCh38]
Chr18:12356713 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1800C>A (p.Gly600=) single nucleotide variant not provided [RCV003693681] Chr18:12340381 [GRCh38]
Chr18:12340380 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.66C>A (p.Leu22=) single nucleotide variant not provided [RCV003693682] Chr18:12377017 [GRCh38]
Chr18:12377016 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.416del (p.Asp139fs) deletion not provided [RCV003695261] Chr18:12367101 [GRCh38]
Chr18:12367100 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.753-16C>T single nucleotide variant not provided [RCV003877501] Chr18:12358959 [GRCh38]
Chr18:12358958 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh38/hg38 18p11.21(chr18:12244578-12507815) copy number gain Autism spectrum disorder [RCV003883403] Chr18:12244578..12507815 [GRCh38]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.214+9T>C single nucleotide variant not provided [RCV003691379] Chr18:12371583 [GRCh38]
Chr18:12371582 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.753C>G (p.Gly251=) single nucleotide variant not provided [RCV003716681] Chr18:12358943 [GRCh38]
Chr18:12358942 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1497C>G (p.Thr499=) single nucleotide variant not provided [RCV003716911] Chr18:12351140 [GRCh38]
Chr18:12351139 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1461C>T (p.Phe487=) single nucleotide variant not provided [RCV003548298] Chr18:12351176 [GRCh38]
Chr18:12351175 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.32G>C (p.Arg11Pro) single nucleotide variant not provided [RCV003561665] Chr18:12377051 [GRCh38]
Chr18:12377050 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2175+19A>G single nucleotide variant not provided [RCV003855793] Chr18:12337322 [GRCh38]
Chr18:12337321 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2239C>G (p.Pro747Ala) single nucleotide variant not provided [RCV003836529] Chr18:12329720 [GRCh38]
Chr18:12329719 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2150C>T (p.Thr717Ile) single nucleotide variant not provided [RCV003674256] Chr18:12337366 [GRCh38]
Chr18:12337365 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2104C>T (p.Arg702Ter) single nucleotide variant not provided [RCV003672158] Chr18:12337412 [GRCh38]
Chr18:12337411 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.628-4A>G single nucleotide variant not provided [RCV003835766] Chr18:12360055 [GRCh38]
Chr18:12360054 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1165-32_1165-17del deletion not provided [RCV003832684] Chr18:12353175..12353190 [GRCh38]
Chr18:12353174..12353189 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1119T>C (p.Ser373=) single nucleotide variant not provided [RCV003672656] Chr18:12356739 [GRCh38]
Chr18:12356738 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.719G>A (p.Arg240Gln) single nucleotide variant not provided [RCV003670935] Chr18:12359960 [GRCh38]
Chr18:12359959 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.29G>A (p.Gly10Asp) single nucleotide variant not provided [RCV003672343] Chr18:12377054 [GRCh38]
Chr18:12377053 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.832A>G (p.Ile278Val) single nucleotide variant not provided [RCV003702027] Chr18:12358864 [GRCh38]
Chr18:12358863 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1027-17T>G single nucleotide variant not provided [RCV003840626] Chr18:12356848 [GRCh38]
Chr18:12356847 [GRCh37]
Chr18:18p11.21		 benign
NM_006796.3(AFG3L2):c.1663+9A>G single nucleotide variant not provided [RCV003551819] Chr18:12348264 [GRCh38]
Chr18:12348263 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.36C>A (p.Gly12=) single nucleotide variant not provided [RCV003819729] Chr18:12377047 [GRCh38]
Chr18:12377046 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2166C>T (p.Asp722=) single nucleotide variant not provided [RCV003727307] Chr18:12337350 [GRCh38]
Chr18:12337349 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1096A>G (p.Asn366Asp) single nucleotide variant not provided [RCV003845734] Chr18:12356762 [GRCh38]
Chr18:12356761 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1227C>T (p.Ile409=) single nucleotide variant not provided [RCV003709920] Chr18:12353096 [GRCh38]
Chr18:12353095 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.215-14T>G single nucleotide variant not provided [RCV003710949] Chr18:12370940 [GRCh38]
Chr18:12370939 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.67C>T (p.Leu23Phe) single nucleotide variant AFG3L2-related disorder [RCV003939450] Chr18:12377016 [GRCh38]
Chr18:12377015 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1218C>T (p.Ile406=) single nucleotide variant AFG3L2-related disorder [RCV003966655]|not provided [RCV003737501] Chr18:12353105 [GRCh38]
Chr18:12353104 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1319-7C>G single nucleotide variant not provided [RCV003870169] Chr18:12351420 [GRCh38]
Chr18:12351419 [GRCh37]
Chr18:18p11.21		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.21(chr18:11200889-12792186)x3 copy number gain not specified [RCV003987267] Chr18:11200889..12792186 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1318+15C>T single nucleotide variant not provided [RCV003859940] Chr18:12352990 [GRCh38]
Chr18:12352989 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1498C>T (p.Leu500=) single nucleotide variant not provided [RCV003853472] Chr18:12351139 [GRCh38]
Chr18:12351138 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.901G>C (p.Asp301His) single nucleotide variant not provided [RCV003723266] Chr18:12358795 [GRCh38]
Chr18:12358794 [GRCh37]
Chr18:18p11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_006796.3(AFG3L2):c.1244A>G (p.Lys415Arg) single nucleotide variant not provided [RCV003710448] Chr18:12353079 [GRCh38]
Chr18:12353078 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.167C>G (p.Thr56Arg) single nucleotide variant not provided [RCV003710108] Chr18:12371639 [GRCh38]
Chr18:12371638 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1981-11G>A single nucleotide variant not provided [RCV003844106] Chr18:12337546 [GRCh38]
Chr18:12337545 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.627+20G>A single nucleotide variant not provided [RCV003820927] Chr18:12363762 [GRCh38]
Chr18:12363761 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.105C>T (p.Cys35=) single nucleotide variant not provided [RCV003706539] Chr18:12376978 [GRCh38]
Chr18:12376977 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.88C>T (p.Pro30Ser) single nucleotide variant not provided [RCV003727370] Chr18:12376995 [GRCh38]
Chr18:12376994 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.908T>C (p.Ile303Thr) single nucleotide variant not provided [RCV003562906] Chr18:12358788 [GRCh38]
Chr18:12358787 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2155_2156del (p.Lys719fs) deletion not provided [RCV003568260] Chr18:12337360..12337361 [GRCh38]
Chr18:12337359..12337360 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1227C>A (p.Ile409=) single nucleotide variant AFG3L2-related disorder [RCV003947153] Chr18:12353096 [GRCh38]
Chr18:12353095 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1838A>C (p.Gln613Pro) single nucleotide variant not specified [RCV003988516] Chr18:12340343 [GRCh38]
Chr18:12340342 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2375G>C (p.Gly792Ala) single nucleotide variant not specified [RCV003995120] Chr18:12329584 [GRCh38]
Chr18:12329583 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.790A>G (p.Ile264Val) single nucleotide variant not provided [RCV003993013] Chr18:12358906 [GRCh38]
Chr18:12358905 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.752+5T>G single nucleotide variant AFG3L2-related disorder [RCV003949805] Chr18:12359922 [GRCh38]
Chr18:12359921 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.2176-7A>C single nucleotide variant AFG3L2-related disorder [RCV003961877] Chr18:12329790 [GRCh38]
Chr18:12329789 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1586C>T (p.Ala529Val) single nucleotide variant Glycogen storage disease type III [RCV003990619] Chr18:12348350 [GRCh38]
Chr18:12348349 [GRCh37]
Chr18:18p11.21		 likely pathogenic
NM_006796.3(AFG3L2):c.400-1G>A single nucleotide variant Spinocerebellar ataxia type 28 [RCV003991355] Chr18:12367118 [GRCh38]
Chr18:12367117 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2375del (p.Gly792fs) deletion not provided [RCV004592138] Chr18:12329584 [GRCh38]
Chr18:12329583 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1384G>A (p.Ala462Thr) single nucleotide variant Inborn genetic diseases [RCV004385987] Chr18:12351348 [GRCh38]
Chr18:12351347 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1931C>G (p.Thr644Ser) single nucleotide variant not specified [RCV004526326] Chr18:12340250 [GRCh38]
Chr18:12340249 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.278T>C (p.Met93Thr) single nucleotide variant Inborn genetic diseases [RCV004386008] Chr18:12370863 [GRCh38]
Chr18:12370862 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.806A>G (p.Tyr269Cys) single nucleotide variant Inborn genetic diseases [RCV004386023] Chr18:12358890 [GRCh38]
Chr18:12358889 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.9:g.(?_12337320)_(12340420_?)del deletion not provided [RCV004579858] Chr18:12337320..12340420 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.1187C>T (p.Ala396Val) single nucleotide variant not provided [RCV004598996] Chr18:12353136 [GRCh38]
Chr18:12353135 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.44G>C (p.Trp15Ser) single nucleotide variant not specified [RCV004702912] Chr18:12377039 [GRCh38]
Chr18:12377038 [GRCh37]
Chr18:18p11.21		 uncertain significance
NC_000018.9:g.(?_12328942)_(12377227_?)dup duplication not specified [RCV004691055] Chr18:12328942..12377227 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.2317C>G (p.Pro773Ala) single nucleotide variant Inborn genetic diseases [RCV004622448] Chr18:12329642 [GRCh38]
Chr18:12329641 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter) single nucleotide variant Spinocerebellar ataxia type 28 [RCV004587708] Chr18:12348285 [GRCh38]
Chr18:12348284 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.245dup (p.Asn82fs) duplication Spastic ataxia 5 [RCV004595412] Chr18:12370895..12370896 [GRCh38]
Chr18:12370894..12370895 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.753-1G>C single nucleotide variant not provided [RCV004575879] Chr18:12358944 [GRCh38]
Chr18:12358943 [GRCh37]
Chr18:18p11.21		 pathogenic
NM_006796.3(AFG3L2):c.399+5G>C single nucleotide variant not provided [RCV004763932]   uncertain significance
NM_006796.3(AFG3L2):c.869G>T (p.Ser290Ile) single nucleotide variant not provided [RCV004771970] Chr18:12358827 [GRCh38]
Chr18:12358826 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.422A>G (p.Lys141Arg) single nucleotide variant AFG3L2-related disorder [RCV004732009] Chr18:12367095 [GRCh38]
Chr18:12367094 [GRCh37]
Chr18:18p11.21		 uncertain significance
NM_006796.3(AFG3L2):c.215-14T>C single nucleotide variant not specified [RCV004702914] Chr18:12370940 [GRCh38]
Chr18:12370939 [GRCh37]
Chr18:18p11.21		 likely benign
NM_006796.3(AFG3L2):c.1558G>C (p.Asp520His) single nucleotide variant not provided [RCV004764009]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:685
Count of miRNA genes:441
Interacting mature miRNAs:472
Transcripts:ENST00000269143, ENST00000588893, ENST00000590811, ENST00000591848
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407194343GWAS843319_Hlipid measurement QTL GWAS843319 (human)0.000003lipid measurementblood lipid measurement (CMO:0000050)181235536112355362Human
407228697GWAS877673_Hbone density QTL GWAS877673 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)181237268312372684Human

Markers in Region
RH75493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,340,936 - 12,341,185UniSTSGRCh37
Build 361812,330,936 - 12,331,185RGDNCBI36
Celera1812,221,507 - 12,221,756RGD
Cytogenetic Map18p11UniSTS
HuRef1812,294,646 - 12,294,895UniSTS
RH104597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,340,283 - 12,340,400UniSTSGRCh37
Build 361812,330,283 - 12,330,400RGDNCBI36
Celera1812,220,856 - 12,220,973RGD
Cytogenetic Map18p11UniSTS
HuRef1812,293,995 - 12,294,112UniSTS
D18S902E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,329,405 - 12,329,625UniSTSGRCh37
Build 361812,319,405 - 12,319,625RGDNCBI36
Celera1812,210,054 - 12,210,274RGD
Cytogenetic Map18p11UniSTS
HuRef1812,283,182 - 12,283,402UniSTS
RH65391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,329,594 - 12,329,717UniSTSGRCh37
Build 361812,319,594 - 12,319,717RGDNCBI36
Celera1812,210,243 - 12,210,366RGD
Cytogenetic Map18p11UniSTS
HuRef1812,283,371 - 12,283,494UniSTS
GeneMap99-GB4 RH Map1889.69UniSTS
NCBI RH Map18140.5UniSTS
STS-N21031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,331,291 - 12,331,429UniSTSGRCh37
Build 361812,321,291 - 12,321,429RGDNCBI36
Celera1812,211,940 - 12,212,078RGD
Cytogenetic Map18p11UniSTS
HuRef1812,285,068 - 12,285,206UniSTS
GeneMap99-GB4 RH Map1895.64UniSTS
SHGC-36229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371812,328,957 - 12,329,068UniSTSGRCh37
Build 361812,318,957 - 12,319,068RGDNCBI36
Celera1812,209,606 - 12,209,717RGD
Cytogenetic Map18p11UniSTS
HuRef1812,282,734 - 12,282,845UniSTS
Stanford-G3 RH Map18451.0UniSTS
NCBI RH Map18139.8UniSTS
GeneMap99-G3 RH Map18451.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000269143   ⟹   ENSP00000269143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,944 - 12,377,227 (-)Ensembl
Ensembl Acc Id: ENST00000588893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,340,937 - 12,348,328 (-)Ensembl
Ensembl Acc Id: ENST00000590811   ⟹   ENSP00000467236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,358,704 - 12,377,002 (-)Ensembl
Ensembl Acc Id: ENST00000591848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,358,805 - 12,360,233 (-)Ensembl
Ensembl Acc Id: ENST00000683671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,340,915 - 12,346,927 (-)Ensembl
Ensembl Acc Id: ENST00000687337   ⟹   ENSP00000508998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,957 - 12,377,108 (-)Ensembl
Ensembl Acc Id: ENST00000687477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,967 - 12,340,716 (-)Ensembl
Ensembl Acc Id: ENST00000688199   ⟹   ENSP00000510237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,960 - 12,377,109 (-)Ensembl
Ensembl Acc Id: ENST00000691179   ⟹   ENSP00000509010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,957 - 12,377,109 (-)Ensembl
Ensembl Acc Id: ENST00000691970   ⟹   ENSP00000508440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,957 - 12,377,113 (-)Ensembl
Ensembl Acc Id: ENST00000692497   ⟹   ENSP00000509870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,960 - 12,377,118 (-)Ensembl
Ensembl Acc Id: ENST00000692988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1812,328,957 - 12,367,492 (-)Ensembl
RefSeq Acc Id: NM_006796   ⟹   NP_006787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,328,944 - 12,377,227 (-)NCBI
GRCh371812,328,943 - 12,377,275 (-)ENTREZGENE
Build 361812,319,108 - 12,367,194 (-)NCBI Archive
HuRef1812,282,720 - 12,330,985 (-)ENTREZGENE
CHM1_11812,328,344 - 12,376,662 (-)NCBI
T2T-CHM13v2.01812,491,960 - 12,540,204 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525601   ⟹   XP_011523903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381812,328,944 - 12,377,227 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054318163   ⟹   XP_054174138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01812,491,960 - 12,540,204 (-)NCBI
RefSeq Acc Id: NP_006787   ⟸   NM_006796
- UniProtKB: Q6P1L0 (UniProtKB/Swiss-Prot),   Q9Y4W6 (UniProtKB/Swiss-Prot),   A0A8I5KVV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523903   ⟸   XM_011525601
- Peptide Label: isoform X1
- UniProtKB: A0A8I5KVV1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000269143   ⟸   ENST00000269143
Ensembl Acc Id: ENSP00000467236   ⟸   ENST00000590811
Ensembl Acc Id: ENSP00000508998   ⟸   ENST00000687337
Ensembl Acc Id: ENSP00000509010   ⟸   ENST00000691179
Ensembl Acc Id: ENSP00000510237   ⟸   ENST00000688199
Ensembl Acc Id: ENSP00000508440   ⟸   ENST00000691970
Ensembl Acc Id: ENSP00000509870   ⟸   ENST00000692497
RefSeq Acc Id: XP_054174138   ⟸   XM_054318163
- Peptide Label: isoform X1
Protein Domains
AAA+ ATPase   Peptidase M41 FtsH extracellular

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4W6-F1-model_v2 AlphaFold Q9Y4W6 1-797 view protein structure

Promoters
RGD ID:6794764
Promoter ID:HG_KWN:27653
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:OTTHUMT00000254603
Position:
Human AssemblyChrPosition (strand)Source
Build 361812,367,046 - 12,367,792 (-)MPROMDB
RGD ID:7236955
Promoter ID:EPDNEW_H24224
Type:initiation region
Name:AFG3L2_1
Description:AFG3 like matrix AAA peptidase subunit 2
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
GRCh381812,377,227 - 12,377,287EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:315 AgrOrtholog
COSMIC AFG3L2 COSMIC
Ensembl Genes ENSG00000141385 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269143 ENTREZGENE
  ENST00000269143.8 UniProtKB/Swiss-Prot
  ENST00000590811.1 UniProtKB/TrEMBL
  ENST00000687337.1 UniProtKB/TrEMBL
  ENST00000688199.1 UniProtKB/TrEMBL
  ENST00000691179.1 UniProtKB/TrEMBL
  ENST00000691970.1 UniProtKB/TrEMBL
  ENST00000692497.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.760 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1690.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141385 GTEx
HGNC ID HGNC:315 ENTREZGENE
Human Proteome Map AFG3L2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-dep_Zn_Metalloprotease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FtsH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M41_FtsH_extracell UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10939 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10939 ENTREZGENE
OMIM 604581 OMIM
PANTHER AFG3-LIKE PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-DEPENDENT PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FtsH_ext UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24612 PharmGKB
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140990 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KRT8_HUMAN UniProtKB/TrEMBL
  A0A8I5KVV1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KXN0_HUMAN UniProtKB/TrEMBL
  A0A8I5KYF5_HUMAN UniProtKB/TrEMBL
  A0A8I5QJR7_HUMAN UniProtKB/TrEMBL
  AFG32_HUMAN UniProtKB/Swiss-Prot
  K7EP56_HUMAN UniProtKB/TrEMBL
  Q6P1L0 ENTREZGENE
  Q8TA92_HUMAN UniProtKB/TrEMBL
  Q9Y4W6 ENTREZGENE
UniProt Secondary Q6P1L0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 AFG3L2  AFG3 like matrix AAA peptidase subunit 2  AFG3L2  AFG3-like AAA ATPase 2  Symbol and/or name change 5135510 APPROVED
2013-10-22 AFG3L2  AFG3-like AAA ATPase 2  AFG3L2  AFG3 ATPase family member 3-like 2 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-11-20 AFG3L2  AFG3 ATPase family member 3-like 2 (S. cerevisiae)  AFG3L2  AFG3 ATPase family gene 3-like 2 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 AFG3L2  AFG3 ATPase family gene 3-like 2 (S. cerevisiae)  AFG3L2  AFG3 ATPase family gene 3-like 2 (yeast)  Symbol and/or name change 5135510 APPROVED