MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Dysarthria (D004401)
Parent Node:
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Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node:
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Ophthalmoplegia (D009886)
..Starting node
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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..expandCANOMAD syndrome (C537980)
..expandCongenital Fibrosis of the Extraocular Muscles (C580012)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156)  LSDB  L: 00050;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)  LSDB  L: 00118;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)  LSDB  L: 00534;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)  LSDB  L: 00510;
..expandPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070)  LSDB  L: 00535;
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11129
Name:Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Definition:
Alternative IDs:OMIM:607459
ParentIDs:MESH:D004401|MESH:D009886|MESH:D015417
TreeNumbers:C10.292.562.750/C537583 |C10.500.300/C537583 |C10.574.500.495/C537583 |C10.597.606.150.500.800.150.200/C537583 |C10.597.622.447/C537583 |C10.668.829.800.300/C537583 |C11.590.472/C537583 |C16.131.666.300/C537583 |C16.320.400.375/C537583 |C23.888.592.604.150.500.80
Synonyms:EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY |EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY, INCLUDED |EPM5, FORMERLY |SANDO |SCAE, INCLUDED |SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR AT
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C537583
MeSH: C537583
OMIM: 607459;
MSeqDR LSDB: 00042;  
Genes: POLG;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003581Adult onset
3 HP:0001284Areflexia
4 HP:0007344Atrophy/Degeneration involving the spinal cord
5 HP:0000518Cataract
NAMDC:  Cataracts
HP:0040283
6 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
7 HP:0003688Cytochrome C oxidase-negative muscle fibers
8 HP:0000716Depressivity
NAMDC:  Depression
9 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0003236Elevated serum creatine phosphokinase
12 HP:0002578Gastroparesis
NAMDC:  Gastroparesis
13 HP:0001265Hyporeflexia
14 HP:0006858Impaired distal proprioception
15 HP:0006886Impaired distal vibration sensation
16 HP:0002151Increased serum lactate
17 HP:0003557Increased variability in muscle fiber diameter
18 HP:0004389Intestinal pseudo-obstruction
NAMDC:  Gastrointestinal pseudo-obstruction
19 HP:0002076Migraine
NAMDC:  Migraine Headaches
20 HP:0008180Mildly elevated creatine phosphokinase
21 HP:0003689Multiple mitochondrial DNA deletions
22 HP:0003713Muscle fiber necrosis
23 HP:0001336Myoclonus
NAMDC:  Myoclonus
24 HP:0000639Nystagmus
25 HP:0003812Phenotypic variability
26 HP:0002403Positive Romberg sign
27 HP:0000590Progressive external ophthalmoplegia
28 HP:0007240Progressive gait ataxia
29 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
30 HP:0000508Ptosis
NAMDC:  Ptosis
31 HP:0003200Ragged-red muscle fibers
32 HP:0001250Seizures
NAMDC:  Seizures
33 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
34 HP:0003434Sensory ataxic neuropathy
35 HP:0003390Sensory axonal neuropathy
36 HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
37 HP:0001751Vestibular dysfunction
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002693.3(POLG):c.3105-11T>C-1FANCI;POLGBenign/Likely benignrs2302084RCV000153754|RCV000281377|RCV000284559|RCV000758546|RCV001789183|RCV001789185|RCV001789184|RCV001789186; NMedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0009783,Me158986234189862341NC_000015.9:g.89862341A>GClinGen:CA295631C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)5428POLGPathogenicrs139562274RCV000855761; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898606208986062015:g.89860620G>T-
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)5428POLGPathogenicrs1596348443RCV000995841; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898606738986067615:g.89860673_89860676del-
NM_002693.3(POLG):c.3483-19T>G5428POLGBenignrs2307438RCV000127543|RCV000758550|RCV001789187|RCV001789188|RCV001789189|RCV001789190|RCV001711294; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|M158986078689860786NC_000015.9:g.89860786A>CClinGen:CA292852CN169374 not specified;
NM_002693.3(POLG):c.3482+6C>T5428POLGConflicting interpretations of pathogenicityrs55779802RCV000127539|RCV000316461|RCV000559092|RCV000726414|RCV000768049|RCV001847754; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C42251158986176689861766NC_000015.9:g.89861766G>AClinGen:CA292847CN169374 not specified;
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicityrs121918049RCV000014455|RCV000188604|RCV000226986|RCV000778451|RCV001252354|RCV002251905; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:15898622848986228415:g.89862284C>GClinGen:CA256893,UniProtKB:P54098#VAR_023684,OMIM:174763.0010CN517202 not provided;
NM_002693.3(POLG):c.3105-36A>G5428POLGBenignrs2246900RCV000758547|RCV001789365|RCV001672951|RCV001789366|RCV001789367|RCV001789368; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN517202|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|M158986236689862366NC_000015.9:g.89862366T>C-
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)5428POLGConflicting interpretations of pathogenicityrs551708243RCV000551001|RCV000660574|RCV000710186|RCV000765239|RCV001121338|RCV001332169; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MedGen:15898624658986246515:g.89862465G>AClinGen:CA316596C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)5428POLGPathogenicrs121918048RCV000014454|RCV000758263|RCV001797046; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898641848986418415:g.89864184G>AClinGen:CA256891,UniProtKB:P54098#VAR_023679,OMIM:174763.0009C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)5428POLGLikely pathogenicrs1484810169RCV000855755; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898641868986418615:g.89864186A>C-
NM_002693.3:c.2734+39_2734+40insAGGT5428POLGBenign-1RCV001789576|RCV001789577|RCV001789573|RCV001789575|RCV001789574; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MOND15898643168986431789864316-
NM_002693.3(POLG):c.2601T>C (p.Pro867=)5428POLGConflicting interpretations of pathogenicityrs201749977RCV000127526|RCV000403402|RCV000709782|RCV000734626|RCV001457683; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:61366158986448989864489NC_000015.9:g.89864489A>GClinGen:CA292834CN169374 not specified;
NM_002693.3(POLG):c.2515del (p.Ala839fs)5428POLGPathogenicrs1596352895RCV000995842; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898650508986505015:g.89865050_89865050del-
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)5428POLGConflicting interpretations of pathogenicityrs769827124RCV000261805|RCV000547242|RCV000678828|RCV000626194|RCV001263147; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726||MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898659808986598015:g.89865980G>AClinGen:CA7724495,UniProtKB:P54098#VAR_058887C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)5428POLGConflicting interpretations of pathogenicityrs113994097RCV000014459|RCV000014460|RCV000014461|RCV000080023|RCV000313739|RCV000508846|RCV000507757|RCV001198081|RCV002247336|RCV002313710; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:C4763519|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:15898666578986665715:g.89866657C>GClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013,ClinVar:157526C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.2071-22T>C5428POLGBenignrs2072267RCV000758397|RCV001595039|RCV001789363|RCV001789361|RCV001789362|RCV001789364; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|M158986715489867154NC_000015.9:g.89867154A>G-
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)5428POLGPathogenicrs121918046RCV000014446|RCV001382679|RCV001781264; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN51720215898687518986875115:g.89868751G>AClinGen:CA256887,UniProtKB:P54098#VAR_023672,OMIM:174763.0005C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)5428POLGConflicting interpretations of pathogenicityrs147407423RCV000173762|RCV000538134|RCV000710183|RCV000768055|RCV001263354|RCV002313026; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,15898687938986879315:g.89868793G>AClinGen:CA302712CN169374 not specified;
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)5428POLGUncertain significancers1433922299RCV001262548; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898688198986881915:g.89868819G>A-
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)5428POLGConflicting interpretations of pathogenicityrs367610201RCV000188667|RCV001348402|RCV001814096|RCV001847837; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orp158986882289868822NC_000015.9:g.89868822A>GClinGen:CA316846CN517202 not provided;
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)5428POLGUncertain significance-1RCV002465078; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298158987042889870428NC_000015.9:g.89870428T>A-
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenicrs113994095RCV000014440|RCV000014441|RCV000014442|RCV000014443|RCV000184011|RCV000188658|RCV000347876|RCV000515354|RCV000508942|RCV000735201|RCV001004604|RCV001095683|RCV001198082|RCV001376079|RCV001731286|RCV001813983|RCV001847600|RCV002273931|RCV002316195; NMONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:015898704328987043215:g.89870432C>TClinGen:CA123140,UniProtKB:P54098#VAR_012155,OMIM:174763.0002C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)5428POLGLikely pathogenicrs1596358408RCV000995843; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898704698987046915:g.89870469C>A-
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)5428POLGConflicting interpretations of pathogenicityrs199759055RCV000188650|RCV000660573|RCV000758259|RCV000778454; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orph15898719308987193015:g.89871930G>AClinGen:CA316821C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)5428POLGConflicting interpretations of pathogenicityrs564582352RCV000188646|RCV000768290|RCV000806434; NMedGen:CN517202|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; M158987233589872335NC_000015.9:g.89872335G>AClinGen:CA316815CN169374 not specified;
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)5428POLGConflicting interpretations of pathogenicityrs61752784RCV000177165|RCV000233823|RCV000415771|RCV000709833|RCV000768291|RCV001121511|RCV002227084|RCV001847817|RCV002312719|RCV002516726; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:CN517202|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,15898733648987336415:g.89873364C>GClinGen:CA202319,UniProtKB:P54098#VAR_058873CN517202 not provided;
NM_002693.3(POLG):c.428C>T (p.Ala143Val)5428POLGConflicting interpretations of pathogenicityrs796052899RCV000758269|RCV000779176|RCV000995420|RCV002288792; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:CN517202|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595158987655889876558NC_000015.9:g.89876558G>A-
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)5428POLGUncertain significancers760170099RCV000995421|RCV001858812|RCV002067611|RCV002479171; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; M15898766558987665515:g.89876655C>G-
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)5428POLGUncertain significancers776347449RCV000709970|RCV001861947|RCV002311993; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,158987672689876726NC_000015.9:g.89876726A>G-
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)166336PRICKLE2Conflicting interpretations of pathogenicityrs387906989RCV000023710|RCV000679893|RCV002247388; NMedGen:C5190799, Orphanet:402082|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN169374364085449640854493:g.64085449C>AOMIM:608501.0002,ClinGen:CA129419,UniProtKB:Q7Z3G6#VAR_065584CN226157 Epilepsy, progressive myoclonic 5;
NM_021830.5(TWNK):c.-650A>G56652TWNKConflicting interpretations of pathogenicityrs187213541RCV000278960|RCV000336415|RCV000351651|RCV000403866|RCV002292507; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN51720210102747318102747318NC_000010.10:g.102747318A>GClinGen:CA10627852CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-644A>T56652TWNKUncertain significancers886046623RCV000301087|RCV000358190|RCV000395716|RCV000395735; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059510102747324102747324NC_000010.10:g.102747324A>TClinGen:CA10630753CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-622C>T56652TWNKUncertain significancers993449080RCV001102533|RCV001102535|RCV001102532|RCV001102534; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010274734610274734610:g.102747346C>T-
NM_021830.5(TWNK):c.-605G>T56652TWNKBenignrs3740484RCV000124045|RCV000269417|RCV000304511|RCV000326884|RCV000361730; NMedGen:CN169374|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:11721010274736310274736310:g.102747363G>TClinGen:CA289761CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-592C>T56652TWNKUncertain significancers774214514RCV001104462|RCV001104459|RCV001104460|RCV001104461|RCV002505679; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:00111010274737610274737610:g.102747376C>T-
NM_021830.5(TWNK):c.-585T>G56652TWNKUncertain significancers886046624RCV000272503|RCV000329943|RCV000365196|RCV000386809; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102747383102747383NC_000010.10:g.102747383T>GClinGen:CA10634720CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-584G>C56652TWNKUncertain significancers1564806518RCV001107222|RCV001107221|RCV001107223|RCV001107224; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:11721010274738410274738410:g.102747384G>C-
NM_021830.5(TWNK):c.-549G>A56652TWNKUncertain significancers886046625RCV000279219|RCV000294636|RCV000333249|RCV000371493; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102747419102747419NC_000010.10:g.102747419G>AClinGen:CA10634369CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-470G>A56652TWNKUncertain significancers886046626RCV000283163|RCV000336669|RCV000340655|RCV000402685; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102747498102747498NC_000010.10:g.102747498G>AClinGen:CA10634370CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-423C>T56652TWNKUncertain significancers886046627RCV000305401|RCV000343931|RCV000394946|RCV000394944; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102747545102747545NC_000010.10:g.102747545C>TClinGen:CA10627853CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-418C>T56652TWNKUncertain significancers750659283RCV001102631|RCV001102633|RCV001102632|RCV001102634; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010274755010274755010:g.102747550C>T-
NM_021830.5(TWNK):c.-304G>A56652TWNKUncertain significancers200599543RCV001102636|RCV001102637|RCV001102635|RCV001104551; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:6092861010274766410274766410:g.102747664G>A-
NM_021830.5(TWNK):c.-290G>C56652TWNKConflicting interpretations of pathogenicityrs62626270RCV000260000|RCV000317524|RCV000370858|RCV000374562; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059510102747678102747678NC_000010.10:g.102747678G>CClinGen:CA10630756CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-241C>T56652TWNKLikely benignrs113159821RCV000263602|RCV000285273|RCV000321122|RCV000378134|RCV001574648; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN51720210102747727102747727NC_000010.10:g.102747727C>TClinGen:CA10627861CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)56652TWNKConflicting interpretations of pathogenicityrs767175342RCV000489778|RCV001107307|RCV001107308|RCV001107309|RCV001107306; NMedGen:CN517202|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010274802310274802310:g.102748023G>AClinGen:CA5653011CN169374 not specified;
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)56652TWNKConflicting interpretations of pathogenicityrs577209883RCV000311980|RCV000350458|RCV000398995|RCV000406517|RCV001515622; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN5172021010274804310274804310:g.102748043G>AClinGen:CA5653019CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)56652TWNKUncertain significancers772221026RCV000261511|RCV000300245|RCV000315587|RCV000353789|RCV003114470; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN5172021010274804410274804410:g.102748044G>TClinGen:CA5653022CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)56652TWNKConflicting interpretations of pathogenicityrs145068570RCV000320273|RCV001102728|RCV001107964|RCV001107963|RCV001107965|RCV001848043; NMedGen:CN517202|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|1010274820810274820810:g.102748208C>GClinGen:CA5653043CN169374 not specified;
NM_021830.5(TWNK):c.276C>T (p.Gly92=)56652TWNKUncertain significancers886046631RCV000268162|RCV000290618|RCV000325677|RCV000382577; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102748243102748243NC_000010.10:g.102748243C>TClinGen:CA10627872CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.384C>T (p.Ser128=)56652TWNKConflicting interpretations of pathogenicityrs148234280RCV000294722|RCV000336672|RCV000347919|RCV000351895|RCV000386725|RCV001848047; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MedGen:CN517202|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|1010274835110274835110:g.102748351C>TClinGen:CA5653057CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.492C>T (p.Leu164=)56652TWNKConflicting interpretations of pathogenicityrs775463083RCV000279300|RCV000336716|RCV000395922|RCV000405350|RCV002262948; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN51720210102748459102748459NC_000010.10:g.102748459C>TClinGen:CA5653070CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)56652TWNKUncertain significancers1564807938RCV001104648|RCV001104649|RCV001104650|RCV001105816|RCV002555029; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN5172021010274856310274856310:g.102748563G>A-
NM_021830.5(TWNK):c.639C>T (p.Gly213=)56652TWNKConflicting interpretations of pathogenicityrs11542130RCV000173516|RCV000301625|RCV000305599|RCV000359159|RCV000395926|RCV000676300|RCV001847741; NMedGen:CN169374|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|1010274860610274860610:g.102748606C>TClinGen:CA302706CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.672T>C (p.Ala224=)56652TWNKConflicting interpretations of pathogenicityrs368863664RCV001105817|RCV001105819|RCV001105818|RCV001108045|RCV002069743; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN5172021010274863910274863910:g.102748639T>C-
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)56652TWNKUncertain significancers753457416RCV001108046|RCV001108048|RCV001108047|RCV001108049; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010274888010274888010:g.102748880G>A-
NM_021830.5(TWNK):c.922T>C (p.Leu308=)56652TWNKConflicting interpretations of pathogenicityrs754389465RCV000270402|RCV000327796|RCV000362650|RCV000366062|RCV000872826; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MedGen:CN51720210102748889102748889NC_000010.10:g.102748889T>CClinGen:CA5653139CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)56652TWNKPathogenicrs80356543RCV000004888|RCV000020867; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010274892210274892210:g.102748922A>GClinGen:CA116968,UniProtKB:Q96RR1#VAR_023649,OMIM:606075.0010C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)56652TWNKConflicting interpretations of pathogenicityrs62626271RCV000273839|RCV000296339|RCV000331424|RCV000388304|RCV000994494; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MedGen:CN5172021010274900910274900910:g.102749009G>AClinGen:CA5653154,UniProtKB:Q96RR1#VAR_062268CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)56652TWNKConflicting interpretations of pathogenicityrs758026634RCV000779014|RCV001102837|RCV001102838|RCV001102839; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059510102749037102749037NC_000010.10:g.102749037G>C-
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)56652TWNKConflicting interpretations of pathogenicityrs200798080RCV000281131|RCV000316283|RCV000338588|RCV000373330|RCV001848070|RCV002059511; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:001910102749068102749068NC_000010.10:g.102749068C>TClinGen:CA5653164CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)56652TWNKBenignrs17113613RCV000173517|RCV000390596|RCV000676301|RCV001104760|RCV001104761|RCV001104762|RCV001847742; NMedGen:CN169374|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN517202|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:6074591010274906910274906910:g.102749069G>AClinGen:CA302708,UniProtKB:Q96RR1#VAR_023656CN517202 not provided;
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)56652TWNKUncertain significance-1RCV002028572|RCV002479711; NMedGen:CN517202|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186; MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138, Orphanet:285510102749157102749157102749157-
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)56652TWNKConflicting interpretations of pathogenicityrs863223921RCV000578276|RCV001105895|RCV001105893|RCV001105894|RCV001722090|RCV002515383; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN517202|1010274916310274916310:g.102749163A>GClinGen:CA324207C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);
NM_021830.5(TWNK):c.1244-14C>T56652TWNKConflicting interpretations of pathogenicityrs758757135RCV000616455|RCV001108147|RCV001108144|RCV001108145|RCV001108146; NMedGen:CN169374|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010274938710274938710:g.102749387C>TClinGen:CA5653201CN169374 not specified;
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)56652TWNKLikely pathogenicrs111033574RCV000004882|RCV002496262; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138, Orphanet:2855; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186; MONDO:MONDO:0012241010274957910274957910:g.102749579G>AClinGen:CA116960,OMIM:606075.0004C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)56652TWNKConflicting interpretations of pathogenicityrs549767223RCV000301666|RCV000356457|RCV000359896|RCV000395193|RCV003105861; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN51720210102750196102750196NC_000010.10:g.102750196T>CClinGen:CA5653252CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)56652TWNKBenign/Likely benignrs62626272RCV000261430|RCV000276601|RCV000316663|RCV000371309|RCV002059512; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN51720210102750235102750235NC_000010.10:g.102750235C>TClinGen:CA5653262CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1572C>T (p.His524=)56652TWNKUncertain significancers774091248RCV001102928|RCV001102929|RCV001102926|RCV001102927; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010275028010275028010:g.102750280C>T-
NM_021830.5(TWNK):c.1593-5C>T56652TWNKBenignrs3740485RCV000124041|RCV000273221|RCV000328346|RCV000331870|RCV000386399|RCV000676302; NMedGen:CN169374|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|1010275062110275062110:g.102750621C>TClinGen:CA289757CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1593-3T>C56652TWNKBenignrs3740486RCV000124042|RCV000288050|RCV000343097|RCV000379002|RCV000382498|RCV000676303; NMedGen:CN169374|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|1010275062310275062310:g.102750623T>CClinGen:CA289758CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)56652TWNKConflicting interpretations of pathogenicityrs139124415RCV001105994|RCV001105993|RCV001105995|RCV001105996|RCV001839029|RCV002555039; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:00101010275063010275063010:g.102750630G>A-
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)56652TWNKConflicting interpretations of pathogenicityrs144001072RCV000726623|RCV001106000|RCV001105997|RCV001105998|RCV001105999|RCV001848766; NMedGen:CN517202|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|1010275064210275064210:g.102750642T>CClinGen:CA5653294CN169374 not specified;
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)56652TWNKConflicting interpretations of pathogenicityrs116046810RCV000199218|RCV000284653|RCV000300073|RCV000339690|RCV000402465|RCV000909034; NMedGen:CN169374|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|10102750730102750730NC_000010.10:g.102750730A>GClinGen:CA323752CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1735-14C>A56652TWNKConflicting interpretations of pathogenicityrs201795189RCV000124046|RCV000314586|RCV000335702|RCV000369307|RCV000396649|RCV002055436; NMedGen:CN169374|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|1010275293310275293310:g.102752933C>AClinGen:CA289762CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)56652TWNKUncertain significancers1274226715RCV001103035|RCV001103037|RCV001103038|RCV001103036; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275303810275303810:g.102753038G>T-
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)56652TWNKUncertain significancers886046632RCV000271132|RCV000274568|RCV000310922|RCV000365721|RCV000429667; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN51720210102753065102753065NC_000010.10:g.102753065C>TClinGen:CA10634726CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)56652TWNKUncertain significancers1426435572RCV001104940|RCV001104941|RCV001104942|RCV001104943|RCV002240733; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN5172021010275311810275311810:g.102753118G>A-
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)56652TWNKConflicting interpretations of pathogenicityrs771310512RCV001104946|RCV001104947|RCV001104944|RCV001104945|RCV003106115; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN5172021010275316510275316510:g.102753165G>A-
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)56652TWNKConflicting interpretations of pathogenicityrs370814108RCV000267823|RCV000326494|RCV000322888|RCV000381173|RCV000712523|RCV001838991; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN517202|10102753187102753187NC_000010.10:g.102753187G>AClinGen:CA324977CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)56652TWNKConflicting interpretations of pathogenicityrs182559752RCV000338208|RCV000283282|RCV000377740|RCV000374204|RCV000871398|RCV001847877; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN517202|10102753257102753257NC_000010.10:g.102753257G>AClinGen:CA323951CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*204G>A56652TWNKConflicting interpretations of pathogenicityrs61871507RCV000308919|RCV000348968|RCV000363555|RCV000404345|RCV001582924|RCV001848071; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN517202|10102753471102753471NC_000010.10:g.102753471G>AClinGen:CA10634372CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*234T>G56652TWNKUncertain significancers886046633RCV000265383|RCV000268894|RCV000305371|RCV000359977; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:117210102753501102753501NC_000010.10:g.102753501T>GClinGen:CA10627877CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*248G>A56652TWNKUncertain significancers1851850715RCV001103133|RCV001103135|RCV001103134|RCV001103136; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:11721010275351510275351510:g.102753515G>A-
NM_021830.5(TWNK):c.*301C>T56652TWNKConflicting interpretations of pathogenicityrs41291468RCV000261655|RCV000316885|RCV000320279|RCV000356361; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102753568102753568NC_000010.10:g.102753568C>TClinGen:CA10630757CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*341G>A56652TWNKUncertain significancers1007423847RCV001105047|RCV001105044|RCV001105045|RCV001105046; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:6092861010275360810275360810:g.102753608G>A-
NM_021830.5(TWNK):c.*346A>C56652TWNKUncertain significancers1851852761RCV001105049|RCV001105048|RCV001105050|RCV001105051; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275361310275361310:g.102753613A>C-
NM_021830.5(TWNK):c.*367A>G56652TWNKUncertain significancers62626296RCV000296618|RCV000332854|RCV000372445|RCV000387305; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102753634102753634NC_000010.10:g.102753634A>GClinGen:CA10627881CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*419A>T56652TWNKConflicting interpretations of pathogenicityrs187553791RCV000289702|RCV000293240|RCV000348190|RCV000390735; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:117210102753686102753686NC_000010.10:g.102753686A>TClinGen:CA10634375CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*438G>C56652TWNKUncertain significancers886046634RCV000304560|RCV000344200|RCV000359366|RCV000402616; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:117210102753705102753705NC_000010.10:g.102753705G>CClinGen:CA10630765CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*453G>A56652TWNKUncertain significancers769950933RCV001108407|RCV001108409|RCV001108406|RCV001108408; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010275372010275372010:g.102753720G>A-
NM_021830.5(TWNK):c.*455C>T56652TWNKBenign/Likely benignrs148810959RCV000261316|RCV000301336|RCV000356122|RCV000395043|RCV002222482; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:CN51720210102753722102753722NC_000010.10:g.102753722C>TClinGen:CA10634378CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*521C>G56652TWNKBenignrs11542131RCV000289850|RCV000326146|RCV000380788|RCV000384190|RCV001618516; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MedGen:CN51720210102753788102753788NC_000010.10:g.102753788C>GClinGen:CA10627883CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*552G>C56652TWNKUncertain significancers111434414RCV001105150|RCV001105149|RCV001105151|RCV001105152; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275381910275381910:g.102753819G>C-
NM_021830.5(TWNK):c.*555G>A56652TWNKUncertain significancers886046635RCV000283055|RCV000286655|RCV000341627|RCV000391253; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:117210102753822102753822NC_000010.10:g.102753822G>AClinGen:CA10627886CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*561C>T56652TWNKUncertain significancers901722933RCV001106276|RCV001106278|RCV001106277|RCV001106279; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:11721010275382810275382810:g.102753828C>T-
NM_021830.5(TWNK):c.*574C>T56652TWNKUncertain significancers886046636RCV000298569|RCV000338309|RCV000353400|RCV000404064; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:118610102753841102753841NC_000010.10:g.102753841C>TClinGen:CA10634727CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*619G>A56652TWNKUncertain significancers886046637RCV000274954|RCV000313885|RCV000368599|RCV000393194; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059510102753886102753886NC_000010.10:g.102753886G>AClinGen:CA10634728CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*709C>G56652TWNKUncertain significancers41291470RCV000268971|RCV000308995|RCV000326378|RCV000365927; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102753976102753976NC_000010.10:g.102753976C>GClinGen:CA10634382CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*747C>G56652TWNKUncertain significancers886046638RCV000267652|RCV000320500|RCV000377431|RCV000378586; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:117210102754014102754014NC_000010.10:g.102754014C>GClinGen:CA10634384CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*763T>C56652TWNKUncertain significancers886046639RCV000279376|RCV000280396|RCV000337820|RCV000371492; NMONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059510102754030102754030NC_000010.10:g.102754030T>CClinGen:CA10634385CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*766A>T56652TWNKBenignrs3740488RCV000312968|RCV000346808|RCV000352677|RCV000406316; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102754033102754033NC_000010.10:g.102754033A>TClinGen:CA10627887CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*769G>A56652TWNKUncertain significancers919556945RCV001105240|RCV001105239|RCV001105241|RCV001105238; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:CN226644,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275403610275403610:g.102754036G>A-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000107815 MSeqDR Search EnsemblC10orf2120chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]00042
ENSG00000140521 MSeqDR Search EnsemblPOLG1528polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00042

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