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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Dysarthria (D004401)
Parent Node: Hereditary Sensory and Motor Neuropathy (D015417)
Parent Node: Ophthalmoplegia (D009886)
..Starting node ..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
Child Nodes:
Sister Nodes:
..Adenine Nucleotide Translocator Deficiency (C566309)
..ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
..CANOMAD syndrome (C537980)
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Hamano Tsukamoto syndrome (C535625)
..Inclusion Body Myopathy 3, Autosomal Dominant (C565311)
..Inclusion body myopathy, autosomal dominant (C538330)
..Minicore Myopathy with External Ophthalmoplegia (C564969)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Ocular Myopathy with Curare Sensitivity (C564937)
..Oculomelic amyoplasia (C537737)
..Oculootoradial syndrome (C535544)
..Ophthalmoplegia Totalis with Ptosis and Miosis (C564927)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Ophthalmoplegia, External, and Myopia (C564087)
..Ophthalmoplegia, Familial Static (C563500)
..Ophthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Ophthalmoplegic Migraine (D060486)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (OMIM:615156) L: 00050;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926) L: 00118;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479) L: 00534;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069) L: 00510;
..PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 (OMIM:617070) L: 00535;
..Schimke X-linked mental retardation syndrome (C536630)
..Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583) L: 00042;
..Supranuclear Palsy, Progressive (D013494) 5
..Treft Sanborn Carey syndrome (C536544)
..Wieacker 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 : 00042;
Genes: POLG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0001284	Areflexia
4	HP:0007344	Atrophy/Degeneration involving the spinal cord
5	HP:0000518	Cataract NAMDC: Cataracts	HP:0040283
6	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
7	HP:0003688	Cytochrome C oxidase-negative muscle fibers
8	HP:0000716	Depressivity NAMDC: Depression
9	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
10	HP:0001260	Dysarthria NAMDC: Dysarthria
11	HP:0003236	Elevated serum creatine phosphokinase
12	HP:0002578	Gastroparesis NAMDC: Gastroparesis
13	HP:0001265	Hyporeflexia
14	HP:0006858	Impaired distal proprioception
15	HP:0006886	Impaired distal vibration sensation
16	HP:0002151	Increased serum lactate
17	HP:0003557	Increased variability in muscle fiber diameter
18	HP:0004389	Intestinal pseudo-obstruction NAMDC: Gastrointestinal pseudo-obstruction
19	HP:0002076	Migraine NAMDC: Migraine Headaches
20	HP:0008180	Mildly elevated creatine phosphokinase
21	HP:0003689	Multiple mitochondrial DNA deletions
22	HP:0003713	Muscle fiber necrosis
23	HP:0001336	Myoclonus NAMDC: Myoclonus
24	HP:0000639	Nystagmus
25	HP:0003812	Phenotypic variability
26	HP:0002403	Positive Romberg sign
27	HP:0000590	Progressive external ophthalmoplegia
28	HP:0007240	Progressive gait ataxia
29	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
30	HP:0000508	Ptosis NAMDC: Ptosis
31	HP:0003200	Ragged-red muscle fibers
32	HP:0001250	Seizures NAMDC: Seizures
33	HP:0000407	Sensorineural hearing impairment NAMDC: Sensorineural hearing loss
34	HP:0003434	Sensory ataxic neuropathy
35	HP:0003390	Sensory axonal neuropathy
36	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
37	HP:0001751	Vestibular dysfunction

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_002693.3(POLG):c.3105-11T>C	-1	FANCI;POLG	Benign/Likely benign	rs2302084	RCV000153754\|RCV000281377\|RCV000284559\|RCV000758546\|RCV001789183\|RCV001789185\|RCV001789184\|RCV001789186;	N	MedGen: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,Me	15	89862341	89862341	NC_000015.9:g.89862341A>G	ClinGen:CA295631	C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	5428	POLG	Pathogenic	rs139562274	RCV000855761;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89860620	89860620	15:g.89860620G>T	-
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	5428	POLG	Pathogenic	rs1596348443	RCV000995841;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89860673	89860676	15:g.89860673_89860676del	-
NM_002693.3(POLG):c.3483-19T>G	5428	POLG	Benign	rs2307438	RCV000127543\|RCV000758550\|RCV001789187\|RCV001789188\|RCV001789189\|RCV001789190\|RCV001711294;	N	MedGen: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\|M	15	89860786	89860786	NC_000015.9:g.89860786A>C	ClinGen:CA292852	CN169374 not specified;
NM_002693.3(POLG):c.3482+6C>T	5428	POLG	Conflicting interpretations of pathogenicity	rs55779802	RCV000127539\|RCV000316461\|RCV000559092\|RCV000726414\|RCV000768049\|RCV001847754;	N	MedGen: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:C42251	15	89861766	89861766	NC_000015.9:g.89861766G>A	ClinGen:CA292847	CN169374 not specified;
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	5428	POLG	Conflicting interpretations of pathogenicity	rs121918049	RCV000014455\|RCV000188604\|RCV000226986\|RCV000778451\|RCV001252354\|RCV002251905;	N	MONDO: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:	15	89862284	89862284	15:g.89862284C>G	ClinGen:CA256893,UniProtKB:P54098#VAR_023684,OMIM:174763.0010	CN517202 not provided;
NM_002693.3(POLG):c.3105-36A>G	5428	POLG	Benign	rs2246900	RCV000758547\|RCV001789365\|RCV001672951\|RCV001789366\|RCV001789367\|RCV001789368;	N	MONDO: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\|M	15	89862366	89862366	NC_000015.9:g.89862366T>C	-
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	5428	POLG	Conflicting interpretations of pathogenicity	rs551708243	RCV000551001\|RCV000660574\|RCV000710186\|RCV000765239\|RCV001121338\|RCV001332169;	N	MONDO: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:	15	89862465	89862465	15:g.89862465G>A	ClinGen:CA316596	C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	5428	POLG	Pathogenic	rs121918048	RCV000014454\|RCV000758263\|RCV001797046;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:CN517202	15	89864184	89864184	15:g.89864184G>A	ClinGen:CA256891,UniProtKB:P54098#VAR_023679,OMIM:174763.0009	C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	5428	POLG	Likely pathogenic	rs1484810169	RCV000855755;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89864186	89864186	15:g.89864186A>C	-
NM_002693.3:c.2734+39_2734+40insAGGT	5428	POLG	Benign	-1	RCV001789576\|RCV001789577\|RCV001789573\|RCV001789575\|RCV001789574;	N	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:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886\|MOND	15	89864316	89864317	89864316	-
NM_002693.3(POLG):c.2601T>C (p.Pro867=)	5428	POLG	Conflicting interpretations of pathogenicity	rs201749977	RCV000127526\|RCV000403402\|RCV000709782\|RCV000734626\|RCV001457683;	N	MedGen: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:61366	15	89864489	89864489	NC_000015.9:g.89864489A>G	ClinGen:CA292834	CN169374 not specified;
NM_002693.3(POLG):c.2515del (p.Ala839fs)	5428	POLG	Pathogenic	rs1596352895	RCV000995842;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89865050	89865050	15:g.89865050_89865050del	-
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs769827124	RCV000261805\|RCV000547242\|RCV000678828\|RCV000626194\|RCV001263147;	N	MedGen: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:70595	15	89865980	89865980	15:g.89865980G>A	ClinGen:CA7724495,UniProtKB:P54098#VAR_058887	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia;
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	5428	POLG	Conflicting interpretations of pathogenicity	rs113994097	RCV000014459\|RCV000014460\|RCV000014461\|RCV000080023\|RCV000313739\|RCV000508846\|RCV000507757\|RCV001198081\|RCV002247336\|RCV002313710;	N	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:CN517202\|MedGen:C4763519\|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:	15	89866657	89866657	15:g.89866657C>G	ClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013,ClinVar:157526	C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.2071-22T>C	5428	POLG	Benign	rs2072267	RCV000758397\|RCV001595039\|RCV001789363\|RCV001789361\|RCV001789362\|RCV001789364;	N	MONDO: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\|M	15	89867154	89867154	NC_000015.9:g.89867154A>G	-
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	5428	POLG	Pathogenic	rs121918046	RCV000014446\|RCV001382679\|RCV001781264;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:CN517202	15	89868751	89868751	15:g.89868751G>A	ClinGen:CA256887,UniProtKB:P54098#VAR_023672,OMIM:174763.0005	C1843851 607459 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	5428	POLG	Conflicting interpretations of pathogenicity	rs147407423	RCV000173762\|RCV000538134\|RCV000710183\|RCV000768055\|RCV001263354\|RCV002313026;	N	MedGen: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,	15	89868793	89868793	15:g.89868793G>A	ClinGen:CA302712	CN169374 not specified;
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)	5428	POLG	Uncertain significance	rs1433922299	RCV001262548;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89868819	89868819	15:g.89868819G>A	-
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	5428	POLG	Conflicting interpretations of pathogenicity	rs367610201	RCV000188667\|RCV001348402\|RCV001814096\|RCV001847837;	N	MedGen: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,Orp	15	89868822	89868822	NC_000015.9:g.89868822A>G	ClinGen:CA316846	CN517202 not provided;
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)	5428	POLG	Uncertain significance	-1	RCV002465078;	N	MONDO: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:298	15	89870428	89870428	NC_000015.9:g.89870428T>A	-
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	5428	POLG	Pathogenic	rs113994095	RCV000014440\|RCV000014441\|RCV000014442\|RCV000014443\|RCV000184011\|RCV000188658\|RCV000347876\|RCV000515354\|RCV000508942\|RCV000735201\|RCV001004604\|RCV001095683\|RCV001198082\|RCV001376079\|RCV001731286\|RCV001813983\|RCV001847600\|RCV002273931\|RCV002316195;	N	MONDO: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:0	15	89870432	89870432	15:g.89870432C>T	ClinGen:CA123140,UniProtKB:P54098#VAR_012155,OMIM:174763.0002	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	5428	POLG	Likely pathogenic	rs1596358408	RCV000995843;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89870469	89870469	15:g.89870469C>A	-
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs199759055	RCV000188650\|RCV000660573\|RCV000758259\|RCV000778454;	N	MedGen: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,Orph	15	89871930	89871930	15:g.89871930G>A	ClinGen:CA316821	C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	5428	POLG	Conflicting interpretations of pathogenicity	rs564582352	RCV000188646\|RCV000768290\|RCV000806434;	N	MedGen: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; M	15	89872335	89872335	NC_000015.9:g.89872335G>A	ClinGen:CA316815	CN169374 not specified;
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	5428	POLG	Conflicting interpretations of pathogenicity	rs61752784	RCV000177165\|RCV000233823\|RCV000415771\|RCV000709833\|RCV000768291\|RCV001121511\|RCV002227084\|RCV001847817\|RCV002312719\|RCV002516726;	N	MedGen: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,	15	89873364	89873364	15:g.89873364C>G	ClinGen:CA202319,UniProtKB:P54098#VAR_058873	CN517202 not provided;
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	5428	POLG	Conflicting interpretations of pathogenicity	rs796052899	RCV000758269\|RCV000779176\|RCV000995420\|RCV002288792;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:C4763519\|MedGen:CN517202\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89876558	89876558	NC_000015.9:g.89876558G>A	-
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)	5428	POLG	Uncertain significance	rs760170099	RCV000995421\|RCV001858812\|RCV002067611\|RCV002479171;	N	MedGen: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; M	15	89876655	89876655	15:g.89876655C>G	-
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)	5428	POLG	Uncertain significance	rs776347449	RCV000709970\|RCV001861947\|RCV002311993;	N	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:0024528,MedGen:C1834846,OMIM:157640; MONDO:MONDO:0009783,	15	89876726	89876726	NC_000015.9:g.89876726A>G	-
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	166336	PRICKLE2	Conflicting interpretations of pathogenicity	rs387906989	RCV000023710\|RCV000679893\|RCV002247388;	N	MedGen:C5190799, Orphanet:402082\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:CN169374	3	64085449	64085449	3:g.64085449C>A	OMIM:608501.0002,ClinGen:CA129419,UniProtKB:Q7Z3G6#VAR_065584	CN226157 Epilepsy, progressive myoclonic 5;
NM_021830.5(TWNK):c.-650A>G	56652	TWNK	Conflicting interpretations of pathogenicity	rs187213541	RCV000278960\|RCV000336415\|RCV000351651\|RCV000403866\|RCV002292507;	N	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\|MedGen:CN517202	10	102747318	102747318	NC_000010.10:g.102747318A>G	ClinGen:CA10627852	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-644A>T	56652	TWNK	Uncertain significance	rs886046623	RCV000301087\|RCV000358190\|RCV000395716\|RCV000395735;	N	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	10	102747324	102747324	NC_000010.10:g.102747324A>T	ClinGen:CA10630753	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-622C>T	56652	TWNK	Uncertain significance	rs993449080	RCV001102533\|RCV001102535\|RCV001102532\|RCV001102534;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747346	102747346	10:g.102747346C>T	-
NM_021830.5(TWNK):c.-605G>T	56652	TWNK	Benign	rs3740484	RCV000124045\|RCV000269417\|RCV000304511\|RCV000326884\|RCV000361730;	N	MedGen: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	10	102747363	102747363	10:g.102747363G>T	ClinGen:CA289761	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-592C>T	56652	TWNK	Uncertain significance	rs774214514	RCV001104462\|RCV001104459\|RCV001104460\|RCV001104461\|RCV002505679;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186\|MONDO:MONDO:0011	10	102747376	102747376	10:g.102747376C>T	-
NM_021830.5(TWNK):c.-585T>G	56652	TWNK	Uncertain significance	rs886046624	RCV000272503\|RCV000329943\|RCV000365196\|RCV000386809;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747383	102747383	NC_000010.10:g.102747383T>G	ClinGen:CA10634720	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-584G>C	56652	TWNK	Uncertain significance	rs1564806518	RCV001107222\|RCV001107221\|RCV001107223\|RCV001107224;	N	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	10	102747384	102747384	10:g.102747384G>C	-
NM_021830.5(TWNK):c.-549G>A	56652	TWNK	Uncertain significance	rs886046625	RCV000279219\|RCV000294636\|RCV000333249\|RCV000371493;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747419	102747419	NC_000010.10:g.102747419G>A	ClinGen:CA10634369	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-470G>A	56652	TWNK	Uncertain significance	rs886046626	RCV000283163\|RCV000336669\|RCV000340655\|RCV000402685;	N	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	10	102747498	102747498	NC_000010.10:g.102747498G>A	ClinGen:CA10634370	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-423C>T	56652	TWNK	Uncertain significance	rs886046627	RCV000305401\|RCV000343931\|RCV000394946\|RCV000394944;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747545	102747545	NC_000010.10:g.102747545C>T	ClinGen:CA10627853	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-418C>T	56652	TWNK	Uncertain significance	rs750659283	RCV001102631\|RCV001102633\|RCV001102632\|RCV001102634;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747550	102747550	10:g.102747550C>T	-
NM_021830.5(TWNK):c.-304G>A	56652	TWNK	Uncertain significance	rs200599543	RCV001102636\|RCV001102637\|RCV001102635\|RCV001104551;	N	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:70595\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286	10	102747664	102747664	10:g.102747664G>A	-
NM_021830.5(TWNK):c.-290G>C	56652	TWNK	Conflicting interpretations of pathogenicity	rs62626270	RCV000260000\|RCV000317524\|RCV000370858\|RCV000374562;	N	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:70595	10	102747678	102747678	NC_000010.10:g.102747678G>C	ClinGen:CA10630756	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.-241C>T	56652	TWNK	Likely benign	rs113159821	RCV000263602\|RCV000285273\|RCV000321122\|RCV000378134\|RCV001574648;	N	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:0012241,MedGen:C1836439,OMIM:609286\|MedGen:CN517202	10	102747727	102747727	NC_000010.10:g.102747727C>T	ClinGen:CA10627861	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)	56652	TWNK	Conflicting interpretations of pathogenicity	rs767175342	RCV000489778\|RCV001107307\|RCV001107308\|RCV001107309\|RCV001107306;	N	MedGen: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:70595	10	102748023	102748023	10:g.102748023G>A	ClinGen:CA5653011	CN169374 not specified;
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)	56652	TWNK	Conflicting interpretations of pathogenicity	rs577209883	RCV000311980\|RCV000350458\|RCV000398995\|RCV000406517\|RCV001515622;	N	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:70595\|MedGen:CN517202	10	102748043	102748043	10:g.102748043G>A	ClinGen:CA5653019	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)	56652	TWNK	Uncertain significance	rs772221026	RCV000261511\|RCV000300245\|RCV000315587\|RCV000353789\|RCV003114470;	N	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\|MedGen:CN517202	10	102748044	102748044	10:g.102748044G>T	ClinGen:CA5653022	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	56652	TWNK	Conflicting interpretations of pathogenicity	rs145068570	RCV000320273\|RCV001102728\|RCV001107964\|RCV001107963\|RCV001107965\|RCV001848043;	N	MedGen: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\|	10	102748208	102748208	10:g.102748208C>G	ClinGen:CA5653043	CN169374 not specified;
NM_021830.5(TWNK):c.276C>T (p.Gly92=)	56652	TWNK	Uncertain significance	rs886046631	RCV000268162\|RCV000290618\|RCV000325677\|RCV000382577;	N	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:70595\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286	10	102748243	102748243	NC_000010.10:g.102748243C>T	ClinGen:CA10627872	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.384C>T (p.Ser128=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs148234280	RCV000294722\|RCV000336672\|RCV000347919\|RCV000351895\|RCV000386725\|RCV001848047;	N	MONDO: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\|	10	102748351	102748351	10:g.102748351C>T	ClinGen:CA5653057	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.492C>T (p.Leu164=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs775463083	RCV000279300\|RCV000336716\|RCV000395922\|RCV000405350\|RCV002262948;	N	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\|MedGen:CN517202	10	102748459	102748459	NC_000010.10:g.102748459C>T	ClinGen:CA5653070	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)	56652	TWNK	Uncertain significance	rs1564807938	RCV001104648\|RCV001104649\|RCV001104650\|RCV001105816\|RCV002555029;	N	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\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MedGen:CN517202	10	102748563	102748563	10:g.102748563G>A	-
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs11542130	RCV000173516\|RCV000301625\|RCV000305599\|RCV000359159\|RCV000395926\|RCV000676300\|RCV001847741;	N	MedGen: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\|	10	102748606	102748606	10:g.102748606C>T	ClinGen:CA302706	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.672T>C (p.Ala224=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs368863664	RCV001105817\|RCV001105819\|RCV001105818\|RCV001108045\|RCV002069743;	N	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\|MedGen:CN517202	10	102748639	102748639	10:g.102748639T>C	-
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)	56652	TWNK	Uncertain significance	rs753457416	RCV001108046\|RCV001108048\|RCV001108047\|RCV001108049;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102748880	102748880	10:g.102748880G>A	-
NM_021830.5(TWNK):c.922T>C (p.Leu308=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs754389465	RCV000270402\|RCV000327796\|RCV000362650\|RCV000366062\|RCV000872826;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186\|MedGen:CN517202	10	102748889	102748889	NC_000010.10:g.102748889T>C	ClinGen:CA5653139	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)	56652	TWNK	Pathogenic	rs80356543	RCV000004888\|RCV000020867;	N	MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	10	102748922	102748922	10:g.102748922A>G	ClinGen:CA116968,UniProtKB:Q96RR1#VAR_023649,OMIM:606075.0010	C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	56652	TWNK	Conflicting interpretations of pathogenicity	rs62626271	RCV000273839\|RCV000296339\|RCV000331424\|RCV000388304\|RCV000994494;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186\|MedGen:CN517202	10	102749009	102749009	10:g.102749009G>A	ClinGen:CA5653154,UniProtKB:Q96RR1#VAR_062268	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)	56652	TWNK	Conflicting interpretations of pathogenicity	rs758026634	RCV000779014\|RCV001102837\|RCV001102838\|RCV001102839;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	10	102749037	102749037	NC_000010.10:g.102749037G>C	-
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs200798080	RCV000281131\|RCV000316283\|RCV000338588\|RCV000373330\|RCV001848070\|RCV002059511;	N	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:70595\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MONDO:MONDO:0019	10	102749068	102749068	NC_000010.10:g.102749068C>T	ClinGen:CA5653164	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)	56652	TWNK	Benign	rs17113613	RCV000173517\|RCV000390596\|RCV000676301\|RCV001104760\|RCV001104761\|RCV001104762\|RCV001847742;	N	MedGen: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:607459	10	102749069	102749069	10:g.102749069G>A	ClinGen:CA302708,UniProtKB:Q96RR1#VAR_023656	CN517202 not provided;
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	56652	TWNK	Uncertain significance	-1	RCV002028572\|RCV002479711;	N	MedGen: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:2855	10	102749157	102749157	102749157	-
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)	56652	TWNK	Conflicting interpretations of pathogenicity	rs863223921	RCV000578276\|RCV001105895\|RCV001105893\|RCV001105894\|RCV001722090\|RCV002515383;	N	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\|MedGen:CN517202\|	10	102749163	102749163	10:g.102749163A>G	ClinGen:CA324207	C1849096 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);
NM_021830.5(TWNK):c.1244-14C>T	56652	TWNK	Conflicting interpretations of pathogenicity	rs758757135	RCV000616455\|RCV001108147\|RCV001108144\|RCV001108145\|RCV001108146;	N	MedGen: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:70595	10	102749387	102749387	10:g.102749387C>T	ClinGen:CA5653201	CN169374 not specified;
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	56652	TWNK	Likely pathogenic	rs111033574	RCV000004882\|RCV002496262;	N	MONDO: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:001224	10	102749579	102749579	10:g.102749579G>A	ClinGen:CA116960,OMIM:606075.0004	C1836439 609286 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3;
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs549767223	RCV000301666\|RCV000356457\|RCV000359896\|RCV000395193\|RCV003105861;	N	MONDO: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:CN517202	10	102750196	102750196	NC_000010.10:g.102750196T>C	ClinGen:CA5653252	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)	56652	TWNK	Benign/Likely benign	rs62626272	RCV000261430\|RCV000276601\|RCV000316663\|RCV000371309\|RCV002059512;	N	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\|MedGen:CN517202	10	102750235	102750235	NC_000010.10:g.102750235C>T	ClinGen:CA5653262	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1572C>T (p.His524=)	56652	TWNK	Uncertain significance	rs774091248	RCV001102928\|RCV001102929\|RCV001102926\|RCV001102927;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102750280	102750280	10:g.102750280C>T	-
NM_021830.5(TWNK):c.1593-5C>T	56652	TWNK	Benign	rs3740485	RCV000124041\|RCV000273221\|RCV000328346\|RCV000331870\|RCV000386399\|RCV000676302;	N	MedGen: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\|	10	102750621	102750621	10:g.102750621C>T	ClinGen:CA289757	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1593-3T>C	56652	TWNK	Benign	rs3740486	RCV000124042\|RCV000288050\|RCV000343097\|RCV000379002\|RCV000382498\|RCV000676303;	N	MedGen: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\|	10	102750623	102750623	10:g.102750623T>C	ClinGen:CA289758	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	56652	TWNK	Conflicting interpretations of pathogenicity	rs139124415	RCV001105994\|RCV001105993\|RCV001105995\|RCV001105996\|RCV001839029\|RCV002555039;	N	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\|MONDO:MONDO:0010	10	102750630	102750630	10:g.102750630G>A	-
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	56652	TWNK	Conflicting interpretations of pathogenicity	rs144001072	RCV000726623\|RCV001106000\|RCV001105997\|RCV001105998\|RCV001105999\|RCV001848766;	N	MedGen: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\|	10	102750642	102750642	10:g.102750642T>C	ClinGen:CA5653294	CN169374 not specified;
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)	56652	TWNK	Conflicting interpretations of pathogenicity	rs116046810	RCV000199218\|RCV000284653\|RCV000300073\|RCV000339690\|RCV000402465\|RCV000909034;	N	MedGen: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\|	10	102750730	102750730	NC_000010.10:g.102750730A>G	ClinGen:CA323752	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1735-14C>A	56652	TWNK	Conflicting interpretations of pathogenicity	rs201795189	RCV000124046\|RCV000314586\|RCV000335702\|RCV000369307\|RCV000396649\|RCV002055436;	N	MedGen: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\|	10	102752933	102752933	10:g.102752933C>A	ClinGen:CA289762	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)	56652	TWNK	Uncertain significance	rs1274226715	RCV001103035\|RCV001103037\|RCV001103038\|RCV001103036;	N	MONDO: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:70595	10	102753038	102753038	10:g.102753038G>T	-
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)	56652	TWNK	Uncertain significance	rs886046632	RCV000271132\|RCV000274568\|RCV000310922\|RCV000365721\|RCV000429667;	N	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:CN226644,OMIM:PS213200, Orphanet:1172\|MedGen:CN517202	10	102753065	102753065	NC_000010.10:g.102753065C>T	ClinGen:CA10634726	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)	56652	TWNK	Uncertain significance	rs1426435572	RCV001104940\|RCV001104941\|RCV001104942\|RCV001104943\|RCV002240733;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:CN517202	10	102753118	102753118	10:g.102753118G>A	-
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	56652	TWNK	Conflicting interpretations of pathogenicity	rs771310512	RCV001104946\|RCV001104947\|RCV001104944\|RCV001104945\|RCV003106115;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:CN517202	10	102753165	102753165	10:g.102753165G>A	-
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	56652	TWNK	Conflicting interpretations of pathogenicity	rs370814108	RCV000267823\|RCV000326494\|RCV000322888\|RCV000381173\|RCV000712523\|RCV001838991;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:CN517202\|	10	102753187	102753187	NC_000010.10:g.102753187G>A	ClinGen:CA324977	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	56652	TWNK	Conflicting interpretations of pathogenicity	rs182559752	RCV000338208\|RCV000283282\|RCV000377740\|RCV000374204\|RCV000871398\|RCV001847877;	N	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\|MedGen:CN517202\|	10	102753257	102753257	NC_000010.10:g.102753257G>A	ClinGen:CA323951	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*204G>A	56652	TWNK	Conflicting interpretations of pathogenicity	rs61871507	RCV000308919\|RCV000348968\|RCV000363555\|RCV000404345\|RCV001582924\|RCV001848071;	N	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\|MedGen:CN517202\|	10	102753471	102753471	NC_000010.10:g.102753471G>A	ClinGen:CA10634372	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*234T>G	56652	TWNK	Uncertain significance	rs886046633	RCV000265383\|RCV000268894\|RCV000305371\|RCV000359977;	N	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	10	102753501	102753501	NC_000010.10:g.102753501T>G	ClinGen:CA10627877	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*248G>A	56652	TWNK	Uncertain significance	rs1851850715	RCV001103133\|RCV001103135\|RCV001103134\|RCV001103136;	N	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	10	102753515	102753515	10:g.102753515G>A	-
NM_021830.5(TWNK):c.*301C>T	56652	TWNK	Conflicting interpretations of pathogenicity	rs41291468	RCV000261655\|RCV000316885\|RCV000320279\|RCV000356361;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102753568	102753568	NC_000010.10:g.102753568C>T	ClinGen:CA10630757	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*341G>A	56652	TWNK	Uncertain significance	rs1007423847	RCV001105047\|RCV001105044\|RCV001105045\|RCV001105046;	N	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\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286	10	102753608	102753608	10:g.102753608G>A	-
NM_021830.5(TWNK):c.*346A>C	56652	TWNK	Uncertain significance	rs1851852761	RCV001105049\|RCV001105048\|RCV001105050\|RCV001105051;	N	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	10	102753613	102753613	10:g.102753613A>C	-
NM_021830.5(TWNK):c.*367A>G	56652	TWNK	Uncertain significance	rs62626296	RCV000296618\|RCV000332854\|RCV000372445\|RCV000387305;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102753634	102753634	NC_000010.10:g.102753634A>G	ClinGen:CA10627881	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*419A>T	56652	TWNK	Conflicting interpretations of pathogenicity	rs187553791	RCV000289702\|RCV000293240\|RCV000348190\|RCV000390735;	N	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:CN226644,OMIM:PS213200, Orphanet:1172	10	102753686	102753686	NC_000010.10:g.102753686A>T	ClinGen:CA10634375	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*438G>C	56652	TWNK	Uncertain significance	rs886046634	RCV000304560\|RCV000344200\|RCV000359366\|RCV000402616;	N	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	10	102753705	102753705	NC_000010.10:g.102753705G>C	ClinGen:CA10630765	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*453G>A	56652	TWNK	Uncertain significance	rs769950933	RCV001108407\|RCV001108409\|RCV001108406\|RCV001108408;	N	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	10	102753720	102753720	10:g.102753720G>A	-
NM_021830.5(TWNK):c.*455C>T	56652	TWNK	Benign/Likely benign	rs148810959	RCV000261316\|RCV000301336\|RCV000356122\|RCV000395043\|RCV002222482;	N	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\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MedGen:CN517202	10	102753722	102753722	NC_000010.10:g.102753722C>T	ClinGen:CA10634378	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*521C>G	56652	TWNK	Benign	rs11542131	RCV000289850\|RCV000326146\|RCV000380788\|RCV000384190\|RCV001618516;	N	MONDO: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:CN517202	10	102753788	102753788	NC_000010.10:g.102753788C>G	ClinGen:CA10627883	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*552G>C	56652	TWNK	Uncertain significance	rs111434414	RCV001105150\|RCV001105149\|RCV001105151\|RCV001105152;	N	MONDO: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:70595	10	102753819	102753819	10:g.102753819G>C	-
NM_021830.5(TWNK):c.*555G>A	56652	TWNK	Uncertain significance	rs886046635	RCV000283055\|RCV000286655\|RCV000341627\|RCV000391253;	N	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	10	102753822	102753822	NC_000010.10:g.102753822G>A	ClinGen:CA10627886	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*561C>T	56652	TWNK	Uncertain significance	rs901722933	RCV001106276\|RCV001106278\|RCV001106277\|RCV001106279;	N	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	10	102753828	102753828	10:g.102753828C>T	-
NM_021830.5(TWNK):c.*574C>T	56652	TWNK	Uncertain significance	rs886046636	RCV000298569\|RCV000338309\|RCV000353400\|RCV000404064;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102753841	102753841	NC_000010.10:g.102753841C>T	ClinGen:CA10634727	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*619G>A	56652	TWNK	Uncertain significance	rs886046637	RCV000274954\|RCV000313885\|RCV000368599\|RCV000393194;	N	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	10	102753886	102753886	NC_000010.10:g.102753886G>A	ClinGen:CA10634728	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*709C>G	56652	TWNK	Uncertain significance	rs41291470	RCV000268971\|RCV000308995\|RCV000326378\|RCV000365927;	N	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:0012241,MedGen:C1836439,OMIM:609286	10	102753976	102753976	NC_000010.10:g.102753976C>G	ClinGen:CA10634382	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*747C>G	56652	TWNK	Uncertain significance	rs886046638	RCV000267652\|RCV000320500\|RCV000377431\|RCV000378586;	N	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	10	102754014	102754014	NC_000010.10:g.102754014C>G	ClinGen:CA10634384	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*763T>C	56652	TWNK	Uncertain significance	rs886046639	RCV000279376\|RCV000280396\|RCV000337820\|RCV000371492;	N	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:70595	10	102754030	102754030	NC_000010.10:g.102754030T>C	ClinGen:CA10634385	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*766A>T	56652	TWNK	Benign	rs3740488	RCV000312968\|RCV000346808\|RCV000352677\|RCV000406316;	N	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	10	102754033	102754033	NC_000010.10:g.102754033A>T	ClinGen:CA10627887	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.*769G>A	56652	TWNK	Uncertain significance	rs919556945	RCV001105240\|RCV001105239\|RCV001105241\|RCV001105238;	N	MONDO: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:70595	10	102754036	102754036	10:g.102754036G>A	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000107815	C10orf2	1	2	0	chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]	00042
ENSG00000140521	POLG	1	5	28	polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]	00042

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