MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Term ID:11835
Name:sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Definition:Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.
Alternative IDs:607459
ParentIDs:
TreeNumbers:
Synonyms:epilepsy, progressive myoclonic, 5, formerly; epilepsy, progressive myoclonic, with sensory ataxic neuropathy; SANDO; sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive; sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; sensory ataxic neuropathy, dysarthria, a
Slim Mappings:
Reference: MedGen:
MeSH:
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;POLG;POLGARFBenign/Likely benign2302084RCV000153754|RCV000284559|RCV000281377|RCV000758546|RCV001789183|RCV001789185|RCV001789184|RCV001789186; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84|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.3574_3577del (p.Lys1191_Glu1192insTer)5428POLGPathogenic/Likely pathogenic1596348443RCV000995841|RCV003467557; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898606738986067615:g.89860673_89860676del-
NM_002693.3(POLG):c.2515del (p.Ala839fs)5428POLGPathogenic/Likely pathogenic1596352895RCV000995842|RCV003461301; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:72615898650508986505015:g.89865050_89865050del-
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)5428POLGPathogenic/Likely pathogenic113994097RCV000014461|RCV000014459|RCV000014460|RCV000080023|RCV000313739|RCV000507757|RCV000508846|RCV001198081|RCV002247336|RCV002313710; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0016809,MedGen:C1843852, Orphanet:254881|MedGen:C3661900|MedGen:C4763519|MedGen:CN169374|MONDO:MONDO:0044970,MeSH:D02815898666578986665715:g.89866657C>GClinVar:157526,ClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)5428POLGPathogenic139562274RCV000855761; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898606208986062015:g.89860620G>T-
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)5428POLGPathogenic121918048RCV000014454|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.1879C>T (p.Arg627Trp)5428POLGPathogenic121918046RCV000014446|RCV001382679|RCV001781264; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C366190015898687518986875115:g.89868751G>AClinGen:CA256887,UniProtKB:P54098#VAR_023672,OMIM:174763.0005C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)5428POLGPathogenic139717885RCV000438492|RCV000758261|RCV003147454; NMedGen:C3661900|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898688418986884115:g.89868841G>AClinGen:CA7724686CN517202 not provided;
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenic113994095RCV000014440|RCV000014441|RCV000014442|RCV000014443|RCV000188658|RCV000184011|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|MedGen:C3661915898704328987043215:g.89870432C>TUniProtKB:P54098#VAR_012155,OMIM:174763.0002,ClinGen:CA123140C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)5428POLGLikely pathogenic1484810169RCV000855755; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898641868986418615:g.89864186A>C-
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)5428POLGLikely pathogenic1596358408RCV000995843; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898704698987046915:g.89870469C>A-
NM_002693.3(POLG):c.3483-19T>G5428POLGBenign2307438RCV000127543|RCV000758550|RCV001711294|RCV001789187|RCV001789188|RCV001789189|RCV001789190; NMedGen:CN169374|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,O158986078689860786NC_000015.9:g.89860786A>CClinGen:CA292852CN169374 not specified;
NM_002693.3(POLG):c.3482+6C>T5428POLGConflicting interpretations of pathogenicity55779802RCV000127539|RCV000316461|RCV000559092|RCV000726414|RCV000768049|RCV001847754|RCV003441747; NMedGen:CN169374|MedGen:C4763519|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,158986176689861766NC_000015.9:g.89861766G>AClinGen:CA292847CN169374 not specified;
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)5428POLGUncertain significance765949668RCV000188524|RCV000633541|RCV000768050|RCV002321760; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphan15898619318986193115:g.89861931T>AClinGen:CA316604CN169374 not specified;
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)5428POLGConflicting interpretations of pathogenicity121918049RCV000014455|RCV000188604|RCV000226986|RCV000778451|RCV001252354|RCV002251905; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C3661900|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>G5428POLGBenign2246900RCV000758547|RCV001672951|RCV001789365|RCV001789366|RCV001789367|RCV001789368; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C3661900|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|M158986236689862366NC_000015.9:g.89862366T>C-
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)5428POLGLikely benign146404260RCV000230283|RCV000768051|RCV001705260; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595; MONDO:M158986248889862488NC_000015.9:g.89862488C>TClinGen:CA7724261CN169374 not specified;
NM_002693.3:c.2734+39_2734+40insAGGT5428POLGBenign2152061162RCV001789576|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 pathogenicity201749977RCV000127526|RCV000403402|RCV000709782|RCV000734626|RCV001457683; NMedGen:CN169374|MedGen:C4763519|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:607459,158986448989864489NC_000015.9:g.89864489A>GClinGen:CA292834CN169374 not specified;
NM_002693.3(POLG):c.2466C>G (p.Pro822=)5428POLGUncertain significance1235161601RCV000768052; NMONDO: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,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:00087158986520789865207NC_000015.9:g.89865207G>C-
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)5428POLGConflicting interpretations of pathogenicity769827124RCV000261805|RCV000547242|RCV000678828|RCV000626194|RCV001263147; NMedGen:C3661900|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.1811C>T (p.Ala604Val)5428POLGUncertain significance1433922299RCV001262548; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:7059515898688198986881915:g.89868819G>A-
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)5428POLGConflicting interpretations of pathogenicity367610201RCV000188667|RCV001348402|RCV001814096|RCV001847837|RCV003226244; NMedGen:CN517202|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphan158986882289868822NC_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:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886158987042889870428NC_000015.9:g.89870428T>A-
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)5428POLGConflicting interpretations of pathogenicity199759055RCV000188650|RCV000660573|RCV000758259|RCV000778454; NMedGen:CN517202|MONDO: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:0008758,MedGen:C0205710,OMIM:203700,Orph15898719308987193015:g.89871930G>AClinGen:CA316821C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.428C>T (p.Ala143Val)5428POLGConflicting interpretations of pathogenicity796052899RCV000758269|RCV000779176|RCV000995420|RCV002288792; NMONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726|MedGen:C4763519|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595158987655889876558NC_000015.9:g.89876558G>A-
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)5428POLGUncertain significance760170099RCV000995421|RCV002067611|RCV001858812|RCV002479171; NMedGen:C3661900|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; M15898766558987665515:g.89876655C>G-
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)166336PRICKLE2Conflicting interpretations of pathogenicity387906989RCV000023710|RCV000679893|RCV002247388; NMedGen:C5190799, Orphanet:402082|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:CN169374364085449640854493:g.64085449C>AClinGen:CA129419,UniProtKB:Q7Z3G6#VAR_065584,OMIM:608501.0002CN226157 Epilepsy, progressive myoclonic 5;
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)56652TWNKPathogenic80356543RCV000004888|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.1422G>A (p.Trp474Ter)56652TWNKLikely pathogenic111033574RCV000004882|RCV002496262; 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:0012241,MedGen:C1836439,OMIM:609286; MONDO:MONDO:0014504,MedGen:C40151010274957910274957910:g.102749579G>AClinGen:CA116960,OMIM:606075.0004C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
NM_021830.5(TWNK):c.-650A>G56652TWNKConflicting interpretations of pathogenicity187213541RCV000278960|RCV000336415|RCV000351651|RCV000403866|RCV002292507; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:C366190010102747318102747318NC_000010.10:g.102747318A>GClinGen:CA10627852CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-644A>T56652TWNKUncertain significance886046623RCV000301087|RCV000358190|RCV000395735|RCV000395716; 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:C5575375,OMIM:PS213200, Orphanet:117210102747324102747324NC_000010.10:g.102747324A>TClinGen:CA10630753CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-622C>T56652TWNKUncertain significance993449080RCV001102533|RCV001102535|RCV001102532|RCV001102534; NMONDO:MONDO:0015244,MedGen:C5575375,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>T56652TWNKBenign3740484RCV000124045|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:C5575375,OMIM:PS213200, Orphanet:11721010274736310274736310:g.102747363G>TClinGen:CA289761CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-592C>T56652TWNKUncertain significance774214514RCV001104462|RCV001104459|RCV001104460|RCV001104461|RCV002505679; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 significance886046624RCV000272503|RCV000329943|RCV000365196|RCV000386809; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,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 significance1564806518RCV001107222|RCV001107223|RCV001107224|RCV001107221; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010274738410274738410:g.102747384G>C-
NM_021830.5(TWNK):c.-549G>A56652TWNKUncertain significance886046625RCV000279219|RCV000294636|RCV000333249|RCV000371493; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 significance886046626RCV000283163|RCV000336669|RCV000340655|RCV000402685; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,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 significance886046627RCV000305401|RCV000343931|RCV000394944|RCV000394946; 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:C5575375,OMIM:PS213200, Orphanet:117210102747545102747545NC_000010.10:g.102747545C>TClinGen:CA10627853CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-418C>T56652TWNKUncertain significance750659283RCV001102633|RCV001102631|RCV001102632|RCV001102634; NMONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|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 significance200599543RCV001102636|RCV001102637|RCV001102635|RCV001104551; NMONDO:MONDO:0015244,MedGen:C5575375,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 pathogenicity62626270RCV000260000|RCV000317524|RCV000374562|RCV000370858; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102747678102747678NC_000010.10:g.102747678G>CClinGen:CA10630756CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-241C>T56652TWNKLikely benign113159821RCV000263602|RCV000285273|RCV000321122|RCV000378134|RCV001574648; NMONDO:MONDO:0015244,MedGen:C5575375,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:C366190010102747727102747727NC_000010.10:g.102747727C>TClinGen:CA10627861CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)56652TWNKConflicting interpretations of pathogenicity767175342RCV000489778|RCV001107306|RCV001107307|RCV001107308|RCV001107309; NMedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:6092861010274802310274802310:g.102748023G>AClinGen:CA5653011CN169374 not specified;
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)56652TWNKConflicting interpretations of pathogenicity577209883RCV000311980|RCV000350458|RCV000398995|RCV000406517|RCV001515622; NMONDO:MONDO:0015244,MedGen:C5575375,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:C36619001010274804310274804310:g.102748043G>AClinGen:CA5653019CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)56652TWNKUncertain significance772221026RCV000261511|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C36619001010274804410274804410:g.102748044G>TClinGen:CA5653022CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)56652TWNKConflicting interpretations of pathogenicity145068570RCV000320273|RCV001102728|RCV001107963|RCV001107965|RCV001107964|RCV001848043; NMedGen:C3661900|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|1010274820810274820810:g.102748208C>GClinGen:CA5653043CN169374 not specified;
NM_021830.5(TWNK):c.276C>T (p.Gly92=)56652TWNKUncertain significance886046631RCV000268162|RCV000290618|RCV000325677|RCV000382577; NMONDO:MONDO:0015244,MedGen:C5575375,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 pathogenicity148234280RCV000294722|RCV000336672|RCV000347919|RCV000351895|RCV000386725|RCV001848047; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 pathogenicity775463083RCV000279300|RCV000336716|RCV000405350|RCV000395922|RCV002262948; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C366190010102748459102748459NC_000010.10:g.102748459C>TClinGen:CA5653070CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)56652TWNKUncertain significance1564807938RCV001104648|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:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:C36619001010274856310274856310:g.102748563G>A-
NM_021830.5(TWNK):c.639C>T (p.Gly213=)56652TWNKConflicting interpretations of pathogenicity11542130RCV000173516|RCV000305599|RCV000301625|RCV000359159|RCV000395926|RCV000676300|RCV001847741; NMedGen:CN169374|MONDO: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:C5575375,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 pathogenicity368863664RCV001105818|RCV001105817|RCV001105819|RCV001108045|RCV002069743; 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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C36619001010274863910274863910:g.102748639T>C-
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)56652TWNKUncertain significance753457416RCV001108047|RCV001108046|RCV001108049|RCV001108048; NMONDO:MONDO:0015244,MedGen:C5575375,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:6092861010274888010274888010:g.102748880G>A-
NM_021830.5(TWNK):c.922T>C (p.Leu308=)56652TWNKConflicting interpretations of pathogenicity754389465RCV000270402|RCV000327796|RCV000366062|RCV000362650|RCV000872826; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C366190010102748889102748889NC_000010.10:g.102748889T>CClinGen:CA5653139CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)56652TWNKConflicting interpretations of pathogenicity62626271RCV000273839|RCV000296339|RCV000331424|RCV000388304|RCV000994494; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MedGen:C36619001010274900910274900910:g.102749009G>AClinGen:CA5653154,UniProtKB:Q96RR1#VAR_062268CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)56652TWNKConflicting interpretations of pathogenicity758026634RCV000779014|RCV001102837|RCV001102838|RCV001102839|RCV003222127; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C366190010102749037102749037NC_000010.10:g.102749037G>C-
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)56652TWNKConflicting interpretations of pathogenicity200798080RCV000281131|RCV000316283|RCV000338588|RCV000373330|RCV001848070|RCV002059511; NMONDO:MONDO:0015244,MedGen:C5575375,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)56652TWNKBenign17113613RCV000173517|RCV000390596|RCV000676301|RCV001104760|RCV001104761|RCV001104762|RCV001847742; NMedGen:CN169374|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:C3661900|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:6074591010274906910274906910:g.102749069G>AUniProtKB:Q96RR1#VAR_023656,ClinGen:CA302708CN517202 not provided;
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)56652TWNKUncertain significance751144474RCV002028572|RCV002479711; NMedGen:C3661900|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:2855; MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102749157102749157102749157-
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)56652TWNKConflicting interpretations of pathogenicity863223921RCV000578276|RCV001105894|RCV001105893|RCV001105895|RCV001722090|RCV002515383; 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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C3661900|1010274916310274916310:g.102749163A>GClinGen:CA324207C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);
NM_021830.5(TWNK):c.1244-14C>T56652TWNKConflicting interpretations of pathogenicity758757135RCV001108144|RCV001108145|RCV001108146|RCV001108147|RCV000616455; 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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:CN1693741010274938710274938710:g.102749387C>TClinGen:CA5653201CN169374 not specified;
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)56652TWNKConflicting interpretations of pathogenicity549767223RCV000301666|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C366190010102750196102750196NC_000010.10:g.102750196T>CClinGen:CA5653252CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)56652TWNKBenign/Likely benign62626272RCV000261430|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C366190010102750235102750235NC_000010.10:g.102750235C>TClinGen:CA5653262CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1572C>T (p.His524=)56652TWNKUncertain significance774091248RCV001102926|RCV001102928|RCV001102929|RCV001102927; NMONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:11861010275028010275028010:g.102750280C>T-
NM_021830.5(TWNK):c.1593-5C>T56652TWNKBenign3740485RCV000124041|RCV000273221|RCV000328346|RCV000331870|RCV000386399|RCV000676302; NMedGen:CN169374|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,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>C56652TWNKBenign3740486RCV000124042|RCV000288050|RCV000343097|RCV000379002|RCV000382498|RCV000676303; NMedGen:CN169374|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,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 pathogenicity139124415RCV001105993|RCV001105994|RCV001105995|RCV001105996|RCV001839029|RCV002555039; 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:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:00141010275063010275063010:g.102750630G>A-
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)56652TWNKConflicting interpretations of pathogenicity144001072RCV000726623|RCV001105999|RCV001105997|RCV001105998|RCV001106000|RCV001848766|RCV003418118; NMedGen:C3661900|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|1010275064210275064210:g.102750642T>CClinGen:CA5653294CN169374 not specified;
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)56652TWNKConflicting interpretations of pathogenicity116046810RCV000199218|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:C5575375,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 pathogenicity201795189RCV000124046|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:C5575375,OMIM:PS213200, Orphanet:1172|1010275293310275293310:g.102752933C>AClinGen:CA289762CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)56652TWNKUncertain significance1274226715RCV001103037|RCV001103038|RCV001103035|RCV001103036; NMONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275303810275303810:g.102753038G>T-
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)56652TWNKUncertain significance886046632RCV000271132|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C366190010102753065102753065NC_000010.10:g.102753065C>TClinGen:CA10634726CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)56652TWNKUncertain significance1426435572RCV001104941|RCV001104942|RCV001104940|RCV001104943|RCV002240733; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C36619001010275311810275311810:g.102753118G>A-
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)56652TWNKConflicting interpretations of pathogenicity771310512RCV001104946|RCV001104944|RCV001104947|RCV001104945|RCV003106115; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C36619001010275316510275316510:g.102753165G>A-
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)56652TWNKConflicting interpretations of pathogenicity370814108RCV000267823|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:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MedGen:C3661900|10102753187102753187NC_000010.10:g.102753187G>AClinGen:CA324977CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)56652TWNKConflicting interpretations of pathogenicity182559752RCV000283282|RCV000377740|RCV000374204|RCV000338208|RCV000871398|RCV001847877; NMONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:C3661900|10102753257102753257NC_000010.10:g.102753257G>AClinGen:CA323951CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*204G>A56652TWNKConflicting interpretations of pathogenicity61871507RCV000308919|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C3661900|10102753471102753471NC_000010.10:g.102753471G>AClinGen:CA10634372CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*234T>G56652TWNKUncertain significance886046633RCV000265383|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:C5575375,OMIM:PS213200, Orphanet:117210102753501102753501NC_000010.10:g.102753501T>GClinGen:CA10627877CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*248G>A56652TWNKUncertain significance1851850715RCV001103133|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:C5575375,OMIM:PS213200, Orphanet:11721010275351510275351510:g.102753515G>A-
NM_021830.5(TWNK):c.*301C>T56652TWNKConflicting interpretations of pathogenicity41291468RCV000261655|RCV000316885|RCV000320279|RCV000356361; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,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 significance1007423847RCV001105047|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:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:6092861010275360810275360810:g.102753608G>A-
NM_021830.5(TWNK):c.*346A>C56652TWNKUncertain significance1851852761RCV001105048|RCV001105050|RCV001105049|RCV001105051; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:705951010275361310275361310:g.102753613A>C-
NM_021830.5(TWNK):c.*367A>G56652TWNKUncertain significance62626296RCV000296618|RCV000332854|RCV000372445|RCV000387305; NMONDO:MONDO:0015244,MedGen:C5575375,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 pathogenicity187553791RCV000289702|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:C5575375,OMIM:PS213200, Orphanet:117210102753686102753686NC_000010.10:g.102753686A>TClinGen:CA10634375CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*438G>C56652TWNKUncertain significance886046634RCV000304560|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:C5575375,OMIM:PS213200, Orphanet:117210102753705102753705NC_000010.10:g.102753705G>CClinGen:CA10630765CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*453G>A56652TWNKUncertain significance769950933RCV001108406|RCV001108408|RCV001108407|RCV001108409; 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:C5575375,OMIM:PS213200, Orphanet:11721010275372010275372010:g.102753720G>A-
NM_021830.5(TWNK):c.*455C>T56652TWNKBenign/Likely benign148810959RCV000261316|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:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MedGen:C366190010102753722102753722NC_000010.10:g.102753722C>TClinGen:CA10634378CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*521C>G56652TWNKBenign11542131RCV000289850|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:C5575375,OMIM:PS213200, Orphanet:1172|MedGen:C366190010102753788102753788NC_000010.10:g.102753788C>GClinGen:CA10627883CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*552G>C56652TWNKUncertain significance111434414RCV001105150|RCV001105149|RCV001105151|RCV001105152; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 significance886046635RCV000283055|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:C5575375,OMIM:PS213200, Orphanet:117210102753822102753822NC_000010.10:g.102753822G>AClinGen:CA10627886CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*561C>T56652TWNKUncertain significance901722933RCV001106277|RCV001106276|RCV001106278|RCV001106279; 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:C5575375,OMIM:PS213200, Orphanet:11721010275382810275382810:g.102753828C>T-
NM_021830.5(TWNK):c.*574C>T56652TWNKUncertain significance886046636RCV000298569|RCV000338309|RCV000353400|RCV000404064; NMONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 significance886046637RCV000274954|RCV000313885|RCV000368599|RCV000393194; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|MONDO:MONDO:0015244,MedGen:C5575375,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 significance41291470RCV000268971|RCV000308995|RCV000326378|RCV000365927; NMONDO:MONDO:0015244,MedGen:C5575375,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 significance886046638RCV000267652|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:C5575375,OMIM:PS213200, Orphanet:117210102754014102754014NC_000010.10:g.102754014C>GClinGen:CA10634384CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*763T>C56652TWNKUncertain significance886046639RCV000279376|RCV000280396|RCV000337820|RCV000371492; NMONDO:MONDO:0015244,MedGen:C5575375,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>T56652TWNKBenign3740488RCV000312968|RCV000352677|RCV000346808|RCV000406316; NMONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:60928610102754033102754033NC_000010.10:g.102754033A>TClinGen:CA10627887CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*769G>A56652TWNKUncertain significance919556945RCV001105239|RCV001105241|RCV001105240|RCV001105238; NMONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200, Orphanet:1172|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286|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 EnsemblPOLG1526polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00042

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