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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: ataxia neuropathy spectrum (MONDO:0016798)
Parent Node: inborn mitochondrial myopathy (MONDO:0009637)
Parent Node: mitochondrial disease with epilepsy (MONDO:0016402)
Parent Node: mitochondrial disease with peripheral neuropathy (MONDO:0016403)
..Starting node ..sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome ()
Child Nodes:
........spinocerebellar ataxia with epilepsy ()
Sister Nodes:
..coenzyme Q10 deficiency ()
..fumaric aciduria ()
..Kearns-Sayre syndrome () L: 00143;
..Leigh disease ()
..MEHMO syndrome ()
..MELAS syndrome () L: 00163;
..MERRF syndrome () L: 00162;
..mitochondrial DNA depletion syndrome 4a () L: 00032;
..mitochondrial neurogastrointestinal encephalomyopathy ()
..NARP syndrome () L: 00168;
..oxoglutaricaciduria ()
..pyruvate dehydrogenase deficiency ()
..sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome () L: 00042;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 : 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;POLGARF	Benign/Likely benign	2302084	RCV000153754\|RCV000284559\|RCV000281377\|RCV000758546\|RCV001789183\|RCV001789185\|RCV001789184\|RCV001789186;	N	MedGen: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,Me	15	89862341	89862341	NC_000015.9:g.89862341A>G	ClinGen:CA295631	C0015625 Fanconi anemia;
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	5428	POLG	Pathogenic/Likely pathogenic	1596348443	RCV000995841\|RCV003467557;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726	15	89860673	89860676	15:g.89860673_89860676del	-
NM_002693.3(POLG):c.2515del (p.Ala839fs)	5428	POLG	Pathogenic/Likely pathogenic	1596352895	RCV000995842\|RCV003461301;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726	15	89865050	89865050	15:g.89865050_89865050del	-
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	5428	POLG	Pathogenic/Likely pathogenic	113994097	RCV000014461\|RCV000014459\|RCV000014460\|RCV000080023\|RCV000313739\|RCV000507757\|RCV000508846\|RCV001198081\|RCV002247336\|RCV002313710;	N	MONDO: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:D028	15	89866657	89866657	15:g.89866657C>G	ClinVar:157526,ClinGen:CA123150,UniProtKB:P54098#VAR_023673,OMIM:174763.0013	C0007959 Charcot-Marie-Tooth disease;
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	5428	POLG	Pathogenic	139562274	RCV000855761;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89860620	89860620	15:g.89860620G>T	-
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	5428	POLG	Pathogenic	121918048	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.1879C>T (p.Arg627Trp)	5428	POLG	Pathogenic	121918046	RCV000014446\|RCV001382679\|RCV001781264;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:C3661900	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.1789C>T (p.Arg597Trp)	5428	POLG	Pathogenic	139717885	RCV000438492\|RCV000758261\|RCV003147454;	N	MedGen:C3661900\|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89868841	89868841	15:g.89868841G>A	ClinGen:CA7724686	CN517202 not provided;
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	5428	POLG	Pathogenic	113994095	RCV000014440\|RCV000014441\|RCV000014442\|RCV000014443\|RCV000188658\|RCV000184011\|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\|MedGen:C36619	15	89870432	89870432	15:g.89870432C>T	UniProtKB:P54098#VAR_012155,OMIM:174763.0002,ClinGen:CA123140	C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)	5428	POLG	Likely pathogenic	1484810169	RCV000855755;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89864186	89864186	15:g.89864186A>C	-
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	5428	POLG	Likely pathogenic	1596358408	RCV000995843;	N	MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595	15	89870469	89870469	15:g.89870469C>A	-
NM_002693.3(POLG):c.3483-19T>G	5428	POLG	Benign	2307438	RCV000127543\|RCV000758550\|RCV001711294\|RCV001789187\|RCV001789188\|RCV001789189\|RCV001789190;	N	MedGen: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,O	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	55779802	RCV000127539\|RCV000316461\|RCV000559092\|RCV000726414\|RCV000768049\|RCV001847754\|RCV003441747;	N	MedGen: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,	15	89861766	89861766	NC_000015.9:g.89861766G>A	ClinGen:CA292847	CN169374 not specified;
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)	5428	POLG	Uncertain significance	765949668	RCV000188524\|RCV000633541\|RCV000768050\|RCV002321760;	N	MedGen: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,Orphan	15	89861931	89861931	15:g.89861931T>A	ClinGen:CA316604	CN169374 not specified;
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	5428	POLG	Conflicting interpretations of pathogenicity	121918049	RCV000014455\|RCV000188604\|RCV000226986\|RCV000778451\|RCV001252354\|RCV002251905;	N	MONDO: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:	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	2246900	RCV000758547\|RCV001672951\|RCV001789365\|RCV001789366\|RCV001789367\|RCV001789368;	N	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, Orphanet:254886\|M	15	89862366	89862366	NC_000015.9:g.89862366T>C	-
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)	5428	POLG	Likely benign	146404260	RCV000230283\|RCV000768051\|RCV001705260;	N	MONDO: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:M	15	89862488	89862488	NC_000015.9:g.89862488C>T	ClinGen:CA7724261	CN169374 not specified;
NM_002693.3:c.2734+39_2734+40insAGGT	5428	POLG	Benign	2152061162	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	201749977	RCV000127526\|RCV000403402\|RCV000709782\|RCV000734626\|RCV001457683;	N	MedGen: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,	15	89864489	89864489	NC_000015.9:g.89864489A>G	ClinGen:CA292834	CN169374 not specified;
NM_002693.3(POLG):c.2466C>G (p.Pro822=)	5428	POLG	Uncertain significance	1235161601	RCV000768052;	N	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,MedGen:C4225153,OMIM:258450, Orphanet:254886; MONDO:MONDO:00087	15	89865207	89865207	NC_000015.9:g.89865207G>C	-
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	5428	POLG	Conflicting interpretations of pathogenicity	769827124	RCV000261805\|RCV000547242\|RCV000678828\|RCV000626194\|RCV001263147;	N	MedGen: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: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.1811C>T (p.Ala604Val)	5428	POLG	Uncertain significance	1433922299	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	367610201	RCV000188667\|RCV001348402\|RCV001814096\|RCV001847837\|RCV003226244;	N	MedGen: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,Orphan	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:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726; MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662, Orphanet:298; MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450, Orphanet:254886	15	89870428	89870428	NC_000015.9:g.89870428T>A	-
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	5428	POLG	Conflicting interpretations of pathogenicity	199759055	RCV000188650\|RCV000660573\|RCV000758259\|RCV000778454;	N	MedGen: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,Orph	15	89871930	89871930	15:g.89871930G>A	ClinGen:CA316821	C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type;
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	5428	POLG	Conflicting interpretations of pathogenicity	796052899	RCV000758269\|RCV000779176\|RCV000995420\|RCV002288792;	N	MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700, Orphanet:726\|MedGen:C4763519\|MedGen:C3661900\|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	760170099	RCV000995421\|RCV002067611\|RCV001858812\|RCV002479171;	N	MedGen: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; M	15	89876655	89876655	15:g.89876655C>G	-
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)	166336	PRICKLE2	Conflicting interpretations of pathogenicity	387906989	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	ClinGen:CA129419,UniProtKB:Q7Z3G6#VAR_065584,OMIM:608501.0002	CN226157 Epilepsy, progressive myoclonic 5;
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)	56652	TWNK	Pathogenic	80356543	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.1422G>A (p.Trp474Ter)	56652	TWNK	Likely pathogenic	111033574	RCV000004882\|RCV002496262;	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:0012241,MedGen:C1836439,OMIM:609286; MONDO:MONDO:0014504,MedGen:C4015	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.-650A>G	56652	TWNK	Conflicting interpretations of pathogenicity	187213541	RCV000278960\|RCV000336415\|RCV000351651\|RCV000403866\|RCV002292507;	N	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\|MedGen:C3661900	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	886046623	RCV000301087\|RCV000358190\|RCV000395735\|RCV000395716;	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:C5575375,OMIM:PS213200, Orphanet:1172	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	993449080	RCV001102533\|RCV001102535\|RCV001102532\|RCV001102534;	N	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\|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	3740484	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:C5575375,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	774214514	RCV001104462\|RCV001104459\|RCV001104460\|RCV001104461\|RCV002505679;	N	MONDO: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:0011	10	102747376	102747376	10:g.102747376C>T	-
NM_021830.5(TWNK):c.-585T>G	56652	TWNK	Uncertain significance	886046624	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:C5575375,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	1564806518	RCV001107222\|RCV001107223\|RCV001107224\|RCV001107221;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186	10	102747384	102747384	10:g.102747384G>C	-
NM_021830.5(TWNK):c.-549G>A	56652	TWNK	Uncertain significance	886046625	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:C5575375,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	886046626	RCV000283163\|RCV000336669\|RCV000340655\|RCV000402685;	N	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	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	886046627	RCV000305401\|RCV000343931\|RCV000394944\|RCV000394946;	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:C5575375,OMIM:PS213200, Orphanet:1172	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	750659283	RCV001102633\|RCV001102631\|RCV001102632\|RCV001102634;	N	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\|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	200599543	RCV001102636\|RCV001102637\|RCV001102635\|RCV001104551;	N	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\|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	62626270	RCV000260000\|RCV000317524\|RCV000374562\|RCV000370858;	N	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	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	113159821	RCV000263602\|RCV000285273\|RCV000321122\|RCV000378134\|RCV001574648;	N	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:0012241,MedGen:C1836439,OMIM:609286\|MedGen:C3661900	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	767175342	RCV000489778\|RCV001107306\|RCV001107307\|RCV001107308\|RCV001107309;	N	MedGen: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:609286	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	577209883	RCV000311980\|RCV000350458\|RCV000398995\|RCV000406517\|RCV001515622;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:C3661900	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	772221026	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	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	145068570	RCV000320273\|RCV001102728\|RCV001107963\|RCV001107965\|RCV001107964\|RCV001848043;	N	MedGen: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\|	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	886046631	RCV000268162\|RCV000290618\|RCV000325677\|RCV000382577;	N	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\|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	148234280	RCV000294722\|RCV000336672\|RCV000347919\|RCV000351895\|RCV000386725\|RCV001848047;	N	MONDO: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\|	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	775463083	RCV000279300\|RCV000336716\|RCV000405350\|RCV000395922\|RCV002262948;	N	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\|MedGen:C3661900	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	1564807938	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:C5575375,OMIM:PS213200, Orphanet:1172\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MedGen:C3661900	10	102748563	102748563	10:g.102748563G>A	-
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	56652	TWNK	Conflicting interpretations of pathogenicity	11542130	RCV000173516\|RCV000305599\|RCV000301625\|RCV000359159\|RCV000395926\|RCV000676300\|RCV001847741;	N	MedGen: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\|	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	368863664	RCV001105818\|RCV001105817\|RCV001105819\|RCV001108045\|RCV002069743;	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	10	102748639	102748639	10:g.102748639T>C	-
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)	56652	TWNK	Uncertain significance	753457416	RCV001108047\|RCV001108046\|RCV001108049\|RCV001108048;	N	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:0012241,MedGen:C1836439,OMIM:609286	10	102748880	102748880	10:g.102748880G>A	-
NM_021830.5(TWNK):c.922T>C (p.Leu308=)	56652	TWNK	Conflicting interpretations of pathogenicity	754389465	RCV000270402\|RCV000327796\|RCV000366062\|RCV000362650\|RCV000872826;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:C3661900	10	102748889	102748889	NC_000010.10:g.102748889T>C	ClinGen:CA5653139	CN239223 Ataxia Neuropathy Spectrum Disorders;
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	56652	TWNK	Conflicting interpretations of pathogenicity	62626271	RCV000273839\|RCV000296339\|RCV000331424\|RCV000388304\|RCV000994494;	N	MONDO: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:C3661900	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	758026634	RCV000779014\|RCV001102837\|RCV001102838\|RCV001102839\|RCV003222127;	N	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\|MedGen:C3661900	10	102749037	102749037	NC_000010.10:g.102749037G>C	-
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)	56652	TWNK	Conflicting interpretations of pathogenicity	200798080	RCV000281131\|RCV000316283\|RCV000338588\|RCV000373330\|RCV001848070\|RCV002059511;	N	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\|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	17113613	RCV000173517\|RCV000390596\|RCV000676301\|RCV001104760\|RCV001104761\|RCV001104762\|RCV001847742;	N	MedGen: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:607459	10	102749069	102749069	10:g.102749069G>A	UniProtKB:Q96RR1#VAR_023656,ClinGen:CA302708	CN517202 not provided;
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	56652	TWNK	Uncertain significance	751144474	RCV002028572\|RCV002479711;	N	MedGen: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:609286	10	102749157	102749157	102749157	-
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)	56652	TWNK	Conflicting interpretations of pathogenicity	863223921	RCV000578276\|RCV001105894\|RCV001105893\|RCV001105895\|RCV001722090\|RCV002515383;	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900\|	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	758757135	RCV001108144\|RCV001108145\|RCV001108146\|RCV001108147\|RCV000616455;	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:CN169374	10	102749387	102749387	10:g.102749387C>T	ClinGen:CA5653201	CN169374 not specified;
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)	56652	TWNK	Conflicting interpretations of pathogenicity	549767223	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	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	62626272	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	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	774091248	RCV001102926\|RCV001102928\|RCV001102929\|RCV001102927;	N	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\|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	3740485	RCV000124041\|RCV000273221\|RCV000328346\|RCV000331870\|RCV000386399\|RCV000676302;	N	MedGen: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\|	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	3740486	RCV000124042\|RCV000288050\|RCV000343097\|RCV000379002\|RCV000382498\|RCV000676303;	N	MedGen: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\|	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	139124415	RCV001105993\|RCV001105994\|RCV001105995\|RCV001105996\|RCV001839029\|RCV002555039;	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:C5575375,OMIM:PS213200, Orphanet:1172\|MONDO:MONDO:0014	10	102750630	102750630	10:g.102750630G>A	-
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	56652	TWNK	Conflicting interpretations of pathogenicity	144001072	RCV000726623\|RCV001105999\|RCV001105997\|RCV001105998\|RCV001106000\|RCV001848766\|RCV003418118;	N	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\|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245, Orphanet:1186\|	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	116046810	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:C5575375,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	201795189	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:C5575375,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	1274226715	RCV001103037\|RCV001103038\|RCV001103035\|RCV001103036;	N	MONDO: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:70595	10	102753038	102753038	10:g.102753038G>T	-
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)	56652	TWNK	Uncertain significance	886046632	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	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	1426435572	RCV001104941\|RCV001104942\|RCV001104940\|RCV001104943\|RCV002240733;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:C3661900	10	102753118	102753118	10:g.102753118G>A	-
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	56652	TWNK	Conflicting interpretations of pathogenicity	771310512	RCV001104946\|RCV001104944\|RCV001104947\|RCV001104945\|RCV003106115;	N	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\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:C3661900	10	102753165	102753165	10:g.102753165G>A	-
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	56652	TWNK	Conflicting interpretations of pathogenicity	370814108	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:C5575375,OMIM:PS213200, Orphanet:1172\|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459, Orphanet:70595\|MedGen:C3661900\|	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	182559752	RCV000283282\|RCV000377740\|RCV000374204\|RCV000338208\|RCV000871398\|RCV001847877;	N	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:609286\|MedGen:C3661900\|	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	61871507	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900\|	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	886046633	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:C5575375,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	1851850715	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:C5575375,OMIM:PS213200, Orphanet:1172	10	102753515	102753515	10:g.102753515G>A	-
NM_021830.5(TWNK):c.*301C>T	56652	TWNK	Conflicting interpretations of pathogenicity	41291468	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:C5575375,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	1007423847	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:C5575375,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	1851852761	RCV001105048\|RCV001105050\|RCV001105049\|RCV001105051;	N	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\|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	62626296	RCV000296618\|RCV000332854\|RCV000372445\|RCV000387305;	N	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\|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	187553791	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:C5575375,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	886046634	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:C5575375,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	769950933	RCV001108406\|RCV001108408\|RCV001108407\|RCV001108409;	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:C5575375,OMIM:PS213200, Orphanet:1172	10	102753720	102753720	10:g.102753720G>A	-
NM_021830.5(TWNK):c.*455C>T	56652	TWNK	Benign/Likely benign	148810959	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:C5575375,OMIM:PS213200, Orphanet:1172\|MONDO:MONDO:0012241,MedGen:C1836439,OMIM:609286\|MedGen:C3661900	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	11542131	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:C5575375,OMIM:PS213200, Orphanet:1172\|MedGen:C3661900	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	111434414	RCV001105150\|RCV001105149\|RCV001105151\|RCV001105152;	N	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\|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	886046635	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:C5575375,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	901722933	RCV001106277\|RCV001106276\|RCV001106278\|RCV001106279;	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:C5575375,OMIM:PS213200, Orphanet:1172	10	102753828	102753828	10:g.102753828C>T	-
NM_021830.5(TWNK):c.*574C>T	56652	TWNK	Uncertain significance	886046636	RCV000298569\|RCV000338309\|RCV000353400\|RCV000404064;	N	MONDO: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	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	886046637	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:C5575375,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	41291470	RCV000268971\|RCV000308995\|RCV000326378\|RCV000365927;	N	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: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	886046638	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:C5575375,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	886046639	RCV000279376\|RCV000280396\|RCV000337820\|RCV000371492;	N	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\|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	3740488	RCV000312968\|RCV000352677\|RCV000346808\|RCV000406316;	N	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\|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	919556945	RCV001105239\|RCV001105241\|RCV001105240\|RCV001105238;	N	MONDO: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: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	26	polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]	00042

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