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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: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar ataxia 28 (C537205)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036;
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 28 (C537205) L: 00498;
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11555

Name:

Spinocerebellar ataxia 28

Definition:

Alternative IDs:

OMIM:610246

ParentIDs:

MESH:D020754

TreeNumbers:

C10.228.140.252.190.530/C537205 |C10.228.140.252.700.700/C537205 |C10.228.854.787.875/C537205 |C10.574.500.825.700/C537205 |C10.597.350.090.500.530/C537205 |C16.320.400.780.875/C537205

Synonyms:

SCA28

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537205
MeSH: C537205
OMIM: 610246;
MSeqDR : 00498;
Genes: AFG3L2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003487	Babinski sign
3	HP:0001272	Cerebellar atrophy
4	HP:0001260	Dysarthria NAMDC: Dysarthria
5	HP:0000641	Dysmetric saccades
6	HP:0001332	Dystonia NAMDC: Dystonia	HP:0040283
7	HP:0002066	Gait ataxia
8	HP:0000640	Gaze-evoked nystagmus
9	HP:0001276	Hypertonia
10	HP:0002070	Limb ataxia
11	HP:0002395	Lower limb hyperreflexia
12	HP:0000597	Ophthalmoparesis NAMDC: Ophthalmoparesis
13	HP:0001300	Parkinsonism NAMDC: Parkinsonism	HP:0040283
14	HP:0000508	Ptosis NAMDC: Ptosis
15	HP:0003677	Slow progression
16	HP:0000514	Slow saccadic eye movements
17	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006796.3(AFG3L2):c.*585A>C	10939	AFG3L2	Uncertain significance	rs886053611	RCV000290785;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12328979	12328979	18:g.12328979T>G	ClinGen:CA10641069	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*484A>G	10939	AFG3L2	Uncertain significance	rs565352114	RCV000345865;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329080	12329080	NC_000018.9:g.12329080T>C	ClinGen:CA10651360	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*379T>A	10939	AFG3L2	Uncertain significance	rs150224434	RCV001128527;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329185	12329185	18:g.12329185A>T	-
NM_006796.3(AFG3L2):c.*373G>A	10939	AFG3L2	Uncertain significance	rs886053612	RCV000403145;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329191	12329191	NC_000018.9:g.12329191C>T	ClinGen:CA10650534	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*326G>A	10939	AFG3L2	Uncertain significance	rs180917336	RCV000303900;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329238	12329238	NC_000018.9:g.12329238C>T	ClinGen:CA10641070	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*311C>T	10939	AFG3L2	Benign	rs79884272	RCV000340153;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329253	12329253	NC_000018.9:g.12329253G>A	ClinGen:CA10641074	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*221A>G	10939	AFG3L2	Uncertain significance	rs886053613	RCV000396483;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329343	12329343	NC_000018.9:g.12329343T>C	ClinGen:CA10650535	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*109A>C	10939	AFG3L2	Benign/Likely benign	rs114203162	RCV000300228\|RCV001548410;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12329455	12329455	NC_000018.9:g.12329455T>G	ClinGen:CA10650537	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*28G>C	10939	AFG3L2	Benign	rs1129115	RCV000357421\|RCV001548982\|RCV001548983\|RCV001618575;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MedGen:CN517202	18	12329536	12329536	NC_000018.9:g.12329536C>G	ClinGen:CA8896206	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.*2G>A	10939	AFG3L2	Benign	rs113981080	RCV000123560\|RCV000260206\|RCV000676671;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12329562	12329562	NC_000018.9:g.12329562C>T	ClinGen:CA289324	CN517202 not provided;
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	10939	AFG3L2	Uncertain significance	rs200514577	RCV000482572\|RCV001809441;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329611	12329611	18:g.12329611G>A	ClinGen:CA8896223	CN169374 not specified;
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)	10939	AFG3L2	Uncertain significance	rs886053614	RCV000298914;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329612	12329612	NC_000018.9:g.12329612C>A	ClinGen:CA10651363	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs117182113	RCV000197194\|RCV000369996\|RCV000488282\|RCV001262989;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772	18	12329644	12329644	NC_000018.9:g.12329644G>A	ClinGen:CA321640	CN517202 not provided;
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	10939	AFG3L2	Uncertain significance	-1	RCV001663507\|RCV002495988;	N	MedGen:CN517202\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772; MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977; MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12329644	12329644	12329644	-
NM_006796.3(AFG3L2):c.2175+14G>A	10939	AFG3L2	Likely benign	rs758755215	RCV000277671;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337326	12337326	NC_000018.9:g.12337326C>T	ClinGen:CA8896296	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs139469785	RCV000195592\|RCV001122821\|RCV001640293\|RCV001640294\|RCV002517193;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	18	12337348	12337348	18:g.12337348C>T	ClinGen:CA319947	CN517202 not provided;
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)	10939	AFG3L2	Uncertain significance	-1	RCV002283678;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337359	12337359	12337359	-
NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)	10939	AFG3L2	Uncertain significance	-1	RCV001849217;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337372	12337372	12337372	-
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs1598820805	RCV000992832\|RCV001809882;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337401	12337401	18:g.12337401A>G	-
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)	10939	AFG3L2	Pathogenic/Likely pathogenic	rs151344523	RCV000005807\|RCV000487661;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12337410	12337410	18:g.12337410C>T	ClinGen:CA340426,UniProtKB:Q9Y4W6#VAR_063547,OMIM:604581.0004	CN517202 not provided;
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)	10939	AFG3L2	Pathogenic	rs151344522	RCV000031947\|RCV001207352;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12337417	12337417	18:g.12337417C>T	ClinGen:CA343036,UniProtKB:Q9Y4W6#VAR_064408	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)	10939	AFG3L2	Pathogenic	rs151344521	RCV000005806;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337434	12337434	18:g.12337434G>T	ClinGen:CA340424,UniProtKB:Q9Y4W6#VAR_063546,OMIM:604581.0003	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)	10939	AFG3L2	Pathogenic	rs151344520	RCV000005804;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337444	12337444	18:g.12337444C>T	ClinGen:CA340419,UniProtKB:Q9Y4W6#VAR_063545,OMIM:604581.0001	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)	10939	AFG3L2	Pathogenic/Likely pathogenic	rs1598820860	RCV000995691\|RCV001091986;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12337450	12337450	18:g.12337450A>G	-
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)	10939	AFG3L2	not provided	-1	RCV002275381;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337450	12337450	12337450	-
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)	10939	AFG3L2	Likely pathogenic	rs797045221	RCV001268617\|RCV001773581;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337453	12337453	18:g.12337453G>A	-
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)	10939	AFG3L2	Likely pathogenic	-1	RCV001787700;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337453	12337453	12337453	-
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)	10939	AFG3L2	Likely benign	rs551015841	RCV000330348\|RCV000517688;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN169374	18	12337480	12337480	NC_000018.9:g.12337480G>A	ClinGen:CA8896320	CN169374 not specified;
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)	10939	AFG3L2	Pathogenic	rs151344519	RCV000005805;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337493	12337494	NC_000018.9:g.12337493_12337494delinsTA	ClinGen:CA340421,OMIM:604581.0002	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)	10939	AFG3L2	not provided	rs151344518	RCV000031946;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337503	12337503	18:g.12337503C>T	UniProtKB:Q9Y4W6#VAR_064406,ClinGen:CA343034	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)	10939	AFG3L2	Pathogenic	rs151344517	RCV000023378;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337504	12337504	18:g.12337504C>T	ClinGen:CA342735,UniProtKB:Q9Y4W6#VAR_064407,OMIM:604581.0008	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)	10939	AFG3L2	Pathogenic	rs151344515	RCV000023377;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337518	12337518	18:g.12337518A>C	OMIM:604581.0007,ClinGen:CA342733,UniProtKB:Q9Y4W6#VAR_064403	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)	10939	AFG3L2	not provided	rs151344515	RCV000031943;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12337518	12337518	18:g.12337518A>G	ClinGen:CA343032,UniProtKB:Q9Y4W6#VAR_064404	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	10939	AFG3L2	Pathogenic/Likely pathogenic	rs151344514	RCV000023376\|RCV000992830\|RCV002490407;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202\|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977; MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772; MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:1011	18	12337519	12337519	18:g.12337519T>C	ClinGen:CA342731,UniProtKB:Q9Y4W6#VAR_064405,OMIM:604581.0006	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	10939	AFG3L2	Likely pathogenic	-1	RCV000031941;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12340219	12340219	18:g.12340219G>A	ClinGen:CA343030,UniProtKB:Q9Y4W6#VAR_064402,OMIM:604581.0009	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)	10939	AFG3L2	not provided	-1	RCV002275382;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12340221	12340222	12340221	-
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	10939	AFG3L2	Likely pathogenic	rs727502823	RCV000149914\|RCV002265626\|RCV003144139;	N	MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12340305	12340305	18:g.12340305C>T	ClinGen:CA175106,OMIM:604581.0011	C3280977 614487 Spastic ataxia 5, autosomal recessive;
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)	10939	AFG3L2	Conflicting interpretations of pathogenicity	-1	RCV001723389\|RCV001849198;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12340319	12340319	12340319	-
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His)	10939	AFG3L2	Uncertain significance	rs1263405472	RCV001122822;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12340384	12340384	18:g.12340384C>T	-
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr)	10939	AFG3L2	Uncertain significance	rs758811358	RCV001122823\|RCV002558214;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12344204	12344204	18:g.12344204T>G	-
NM_006796.3(AFG3L2):c.1664-5G>C	10939	AFG3L2	Uncertain significance	rs886053615	RCV000368764;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12344251	12344251	NC_000018.9:g.12344251C>G	ClinGen:CA10650539	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.1664-9T>C	10939	AFG3L2	Benign	rs200476229	RCV000174759\|RCV000271865\|RCV000676672;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12344255	12344255	NC_000018.9:g.12344255A>G	ClinGen:CA302761	CN517202 not provided;
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	10939	AFG3L2	Benign	rs11553521	RCV000116249\|RCV000329004\|RCV000676673\|RCV001548985\|RCV001548984;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977	18	12348285	12348285	18:g.12348285T>C	ClinGen:CA288674	CN517202 not provided;
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)	10939	AFG3L2	Uncertain significance	-1	RCV002289253\|RCV003128855;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12348319	12348319	12348319	-
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser)	10939	AFG3L2	Uncertain significance	rs1908301962	RCV001123909;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12351120	12351120	18:g.12351120C>A	-
NM_006796.3(AFG3L2):c.1426+9A>T	10939	AFG3L2	Likely benign	rs377339236	RCV000381305\|RCV000610629;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN169374	18	12351296	12351296	NC_000018.9:g.12351296T>A	ClinGen:CA8896507	CN169374 not specified;
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu)	10939	AFG3L2	Uncertain significance	rs375098002	RCV000289354\|RCV000660399\|RCV002517192;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772; MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12351334	12351334	18:g.12351334G>A	ClinGen:CA325224	C3280977 614487 Spastic ataxia 5, autosomal recessive;
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	10939	AFG3L2	Benign	rs11080572	RCV000116248\|RCV000323296\|RCV000676675\|RCV001549081\|RCV001548986;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977	18	12351342	12351342	18:g.12351342C>T	ClinGen:CA288671	CN517202 not provided;
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)	10939	AFG3L2	Pathogenic	-1	RCV002222799\|RCV002508979;	N	MedGen:CN517202\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772; MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977; MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12351353	12351353	12351353	-
NM_006796.3(AFG3L2):c.1319-7C>T	10939	AFG3L2	Benign/Likely benign	rs182327153	RCV000513298\|RCV001126568\|RCV001288730;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN169374	18	12351419	12351419	18:g.12351419G>A	ClinGen:CA8896522	CN517202 not provided;
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)	10939	AFG3L2	Pathogenic	rs151344512	RCV000005808;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12353027	12353027	18:g.12353027T>G	ClinGen:CA340428,UniProtKB:Q9Y4W6#VAR_063544,OMIM:604581.0005	C1853249 610246 Spinocerebellar ataxia 28;
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp)	10939	AFG3L2	Uncertain significance	-1	RCV001809171;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12353038	12353038	12353038	-
NM_006796.3(AFG3L2):c.1164+1G>A	10939	AFG3L2	Pathogenic	rs1598832526	RCV000791162;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12356692	12356692	18:g.12356692C>T	-
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)	10939	AFG3L2	Likely pathogenic	rs1598832568	RCV000995692;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12356738	12356738	18:g.12356738A>T	-
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=)	10939	AFG3L2	Likely benign	rs747246135	RCV001126569;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12356768	12356768	18:g.12356768T>C	-
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)	10939	AFG3L2	Likely benign	rs139181972	RCV000826948\|RCV001126570;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12356792	12356792	18:g.12356792C>T	-
NM_006796.3(AFG3L2):c.1026+8G>A	10939	AFG3L2	Benign	rs8091858	RCV000123555\|RCV000379915\|RCV000676676;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12358661	12358661	NC_000018.9:g.12358661C>T	ClinGen:CA289322	CN517202 not provided;
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=)	10939	AFG3L2	Uncertain significance	rs1908570292	RCV001126571;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12358804	12358804	18:g.12358804C>T	-
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs149605021	RCV000283135\|RCV000713023;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12358902	12358902	NC_000018.9:g.12358902C>T	ClinGen:CA8896651	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.753-55T>C	10939	AFG3L2	Benign	-1	RCV001549082\|RCV001549084\|RCV001549083\|RCV001615299;	N	MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MedGen:CN517202	18	12358997	12358997	12358997	-
NM_006796.3(AFG3L2):c.752+6C>T	10939	AFG3L2	Benign	rs8097342	RCV000179927\|RCV000340354\|RCV000676677\|RCV001549085\|RCV001549086;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202\|MONDO:MONDO:0033549,MedGen:C5436534,OMIM:618977\|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772	18	12359920	12359920	NC_000018.9:g.12359920G>A	ClinGen:CA303057	CN517202 not provided;
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs768999765	RCV001128629\|RCV003117775;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12359960	12359960	18:g.12359960G>A	-
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile)	10939	AFG3L2	Uncertain significance	-1	RCV001570064\|RCV001810096;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12360044	12360044	12360044	-
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile)	10939	AFG3L2	Uncertain significance	rs1373473541	RCV000662105\|RCV000662106\|RCV001756119;	N	MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487, Orphanet:313772\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12363837	12363837	18:g.12363837C>T	-	C3280977 614487 Spastic ataxia 5, autosomal recessive;
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)	10939	AFG3L2	Benign	rs141538541	RCV000405064\|RCV000432288\|RCV000884213;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN169374\|MedGen:CN517202	18	12367018	12367018	NC_000018.9:g.12367018G>A	ClinGen:CA8896725	CN169374 not specified;
NM_006796.3(AFG3L2):c.400-14C>G	10939	AFG3L2	Benign	rs192002414	RCV000282045\|RCV001690081;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12367130	12367130	NC_000018.9:g.12367130G>C	ClinGen:CA8896741	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)	10939	AFG3L2	Uncertain significance	rs915684170	RCV000713021\|RCV001796977;	N	MedGen:CN517202\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12367309	12367309	NC_000018.9:g.12367309T>A	-
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu)	10939	AFG3L2	Uncertain significance	rs886053616	RCV000402595;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12370872	12370872	NC_000018.9:g.12370872T>C	ClinGen:CA10647192	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=)	10939	AFG3L2	Uncertain significance	rs1308467906	RCV001128630;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12370873	12370873	18:g.12370873A>C	-
NM_006796.3(AFG3L2):c.244A>C (p.Asn82His)	10939	AFG3L2	Uncertain significance	rs1908967089	RCV001252969;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12370896	12370896	18:g.12370896T>G	-
NM_006796.3(AFG3L2):c.215-5A>C	10939	AFG3L2	Benign/Likely benign	rs371046479	RCV000313807\|RCV001557486;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12370930	12370930	NC_000018.9:g.12370930T>G	ClinGen:CA8896805	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg)	10939	AFG3L2	Uncertain significance	-1	RCV001787316;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12371644	12371644	12371644	-
NM_006796.3(AFG3L2):c.114+12C>T	10939	AFG3L2	Conflicting interpretations of pathogenicity	rs758470020	RCV000394614\|RCV000422479\|RCV002524452;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN169374\|MedGen:CN517202	18	12376956	12376956	NC_000018.9:g.12376956G>A	ClinGen:CA8896854	CN169374 not specified;
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu)	10939	AFG3L2	Uncertain significance	rs886053617	RCV000364860;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12376993	12376993	NC_000018.9:g.12376993G>A	ClinGen:CA10651369	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val)	10939	AFG3L2	Uncertain significance	rs866272063	RCV001331644\|RCV003135988;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12377029	12377029	12377029	-
NM_006796.3(AFG3L2):c.-18A>G	10939	AFG3L2	Uncertain significance	rs886053618	RCV000272564;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377099	12377099	NC_000018.9:g.12377099T>C	ClinGen:CA10650542	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-32C>T	10939	AFG3L2	Benign	rs556432963	RCV000123561\|RCV000325300;	N	MedGen:CN169374\|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377113	12377113	NC_000018.9:g.12377113G>A	ClinGen:CA289325	CN169374 not specified;
NM_006796.3(AFG3L2):c.-71C>T	10939	AFG3L2	Benign/Likely benign	rs571340907	RCV000266676\|RCV001577891;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12377152	12377152	NC_000018.9:g.12377152G>A	ClinGen:CA8896865	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-78C>A	10939	AFG3L2	Uncertain significance	rs1909190689	RCV001122941;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377159	12377159	18:g.12377159G>T	-
NM_006796.3(AFG3L2):c.-92T>C	10939	AFG3L2	Uncertain significance	rs574201536	RCV000321012;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377173	12377173	NC_000018.9:g.12377173A>G	ClinGen:CA8896869	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-96G>C	10939	AFG3L2	Benign	rs12327346	RCV000377956\|RCV001660673;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12377177	12377177	NC_000018.9:g.12377177C>G	ClinGen:CA8896871	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-137G>C	10939	AFG3L2	Benign/Likely benign	rs191000529	RCV000281188\|RCV001568597;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109\|MedGen:CN517202	18	12377218	12377218	NC_000018.9:g.12377218C>G	ClinGen:CA8896873	CN227858 Spinocerebellar Ataxia, Dominant;
NM_006796.3(AFG3L2):c.-139T>C	10939	AFG3L2	Uncertain significance	rs542643055	RCV001122942;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377220	12377220	18:g.12377220A>G	-
NM_006796.2(AFG3L2):c.-151C>T	10939	AFG3L2	Benign	rs554944971	RCV001124004;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377232	12377232	18:g.12377232G>A	-
NM_006796.2(AFG3L2):c.-179C>T	10939	AFG3L2	Uncertain significance	rs576218520	RCV001124005;	N	MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246, Orphanet:101109	18	12377260	12377260	18:g.12377260G>A	-