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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: Leigh disease (MONDO:0018859)
..Starting node ..congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ()
Child Nodes:
Sister Nodes:
..congenital lactic acidosis, Saguenay-Lac-Saint-Jean type () L: 00389;
..Leigh syndrome () L: 00015;
..Leigh syndrome with nephrotic syndrome ()
..necrotizing encephalomyelopathy, subacute, of Leigh, adult () L: 00433;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9069

Name:

congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Definition:

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

Alternative IDs:

220111

ParentIDs:

TreeNumbers:

Synonyms:

Cox deficiency, French Canadian type; COX deficiency, French-Canadian type; Cox deficiency, Saguenay Lac saint Jean type; Cox deficiency, Saguenay-Lac-Saint-Jean type; cytochrome C oxidase deficiency, French Canadian type; cytochrome C oxidase deficiency, French-Canadian type; cytochrome oxidase def

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 220111;
MSeqDR : 00389;
Genes: EPOR; JAK2; LRPPRC; SH2B3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000463	Anteverted nares
4	HP:0001251	Ataxia
5	HP:0007305	CNS demyelination
6	HP:0000750	Delayed speech and language development NAMDC: Delayed language
7	HP:0001508	Failure to thrive
8	HP:0001290	Generalized hypotonia
9	HP:0002171	Gliosis
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
11	HP:0001263	Global developmental delay NAMDC: Mental retardation
12	HP:0002553	Highly arched eyebrow
13	HP:0001007	Hirsutism
14	HP:0003074	Hyperglycemia
15	HP:0000316	Hypertelorism
16	HP:0001943	Hypoglycemia
17	HP:0002490	Increased CSF lactate
18	HP:0006565	Increased hepatocellular lipid droplets
19	HP:0002151	Increased serum lactate
20	HP:0003128	Lactic acidosis
21	HP:0000294	Low anterior hairline
22	HP:0000272	Malar flattening
23	HP:0001414	Microvesicular hepatic steatosis
24	HP:0011800	Midface retrusion
25	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
26	HP:0011096	Peripheral demyelination
27	HP:0011220	Prominent forehead
28	HP:0001250	Seizures NAMDC: Seizures	HP:0040283
29	HP:0000486	Strabismus
30	HP:0002789	Tachypnea
31	HP:0001337	Tremor
32	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	863224052	RCV000200227\|RCV002282031;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121706	44121706	NC_000002.11:g.44121706G>T	ClinGen:CA324789	CN517202 not provided;
NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	761052211	RCV001999752\|RCV003471129;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126409	44126410	44126409	-
NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	-1	RCV002922901\|RCV003465866;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126443	44126446	NC_000002.11:g.44126445_44126448del	-
NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	-1	RCV002880396\|RCV003465853;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145268	44145268	NC_000002.11:g.44145268C>T	-
NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	1166980943	RCV000673086\|RCV002531331;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44153082	44153082	2:g.44153082G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	2105077465	RCV001844744\|RCV002543335;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44170886	44170889	44170885	-
NM_133259.4(LRPPRC):c.2369dup (p.His791fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	2105077651	RCV001972377\|RCV003471171;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170960	44170961	44170960	-
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	758615834	RCV001004168\|RCV002549234;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44171004	44171004	2:g.44171004C>A	-
NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	1022152551	RCV001883456\|RCV003146299;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173295	44173295	44173295	-
NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	752914914	RCV000669822\|RCV001205402;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44175313	44175316	2:g.44175313_44175316del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	750343121	RCV000671397\|RCV001068882;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44176753	44176754	2:g.44176753_44176754del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	774934005	RCV000669968\|RCV002532093;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44176753	44176753	2:g.44176753G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	775735922	RCV000665443\|RCV002530656;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44184584	44184584	2:g.44184584G>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	-1	RCV002309085\|RCV003099153;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44187744	44187745	44187744	-
NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs)	10128	LRPPRC	Pathogenic/Likely pathogenic	2103713116	RCV001380889\|RCV003469654;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201349	44201352	44201348	-
NM_133259.4(LRPPRC):c.864+2T>C	10128	LRPPRC	Pathogenic/Likely pathogenic	863224053	RCV000197365\|RCV003468888;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202228	44202228	NC_000002.11:g.44202228A>G	ClinGen:CA321815	CN517202 not provided;
NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	1553411748	RCV000665018\|RCV001387030;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44204182	44204182	2:g.44204182G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	760186575	RCV001045732\|RCV003467743;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209440	44209440	2:g.44209440G>A	-
NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter)	10128	LRPPRC	Pathogenic/Likely pathogenic	754855090	RCV001866461\|RCV003464169;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209479	44209479	44209479	-
NM_133259.4(LRPPRC):c.3900+1G>C	10128	LRPPRC	Pathogenic	863225443	RCV000202399\|RCV001853257;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44123772	44123772	2:g.44123772C>G	ClinGen:CA279907,OMIM:607544.0003	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3286del (p.His1096fs)	10128	LRPPRC	Pathogenic	797044605	RCV000194544\|RCV001853125;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44132909	44132909	NC_000002.11:g.44132911del	ClinGen:CA090948	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs)	10128	LRPPRC	Pathogenic	769022521	RCV000202391\|RCV001213935;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44145164	44145165	2:g.44145164_44145165insT	ClinGen:CA211163,OMIM:607544.0007	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)	10128	LRPPRC	Pathogenic	863225445	RCV000202395;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161337	44161339	2:g.44161337_44161339del	ClinGen:CA279903,OMIM:607544.0005	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del)	10128	LRPPRC	Pathogenic	863225444	RCV000202390;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161925	44161927	2:g.44161925_44161927del	ClinGen:CA279900,OMIM:607544.0004	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter)	10128	LRPPRC	Pathogenic	746627889	RCV001387077\|RCV003469728;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190784	44190784	44190784	-
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)	10128	LRPPRC	Pathogenic	119466000	RCV000003257\|RCV000796281;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44201383	44201383	NC_000002.11:g.44201383G>A	ClinGen:CA210483,UniProtKB:P42704#VAR_018656,OMIM:607544.0001	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4128+2T>G	10128	LRPPRC	Likely pathogenic	1553388067	RCV000666477;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116871	44116871	2:g.44116871A>C	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4128+1G>A	10128	LRPPRC	Likely pathogenic	1475772376	RCV000666643;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116872	44116872	2:g.44116872C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469966;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116886	44116887		-
NM_133259.4(LRPPRC):c.3985+1811_4077delinsA	10128	LRPPRC	Likely pathogenic	-1	RCV003469951;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116924	44119873		-
NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469963;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121688	44121690		-
NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461792;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121690	44121690		-
NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309734;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121712	44121712	44121711	-
NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV003469950;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121728	44121728		-
NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461795;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121731	44121741		-
NM_133259.4(LRPPRC):c.3826-1G>A	10128	LRPPRC	Likely pathogenic	-1	RCV003469968;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44123848	44123848		-
NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307300;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126396	44126396	44126395	-
NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306466;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126403	44126405	44126403	-
NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309498;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126404	44126405	44126403	-
NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307036;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126408	44126409	44126408	-
NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310504;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126613	44126617	44126613	-
NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002306991;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126623	44126623	44126623	-
NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer)	10128	LRPPRC	Likely pathogenic	1553391303	RCV000672746;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126638	44126641	2:g.44126638_44126641del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV003469965;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126669	44126669		-
NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs)	10128	LRPPRC	Likely pathogenic	762254417	RCV000627493\|RCV003465367;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128461	44128462	2:g.44128461_44128462insT	ClinGen:CA1638038	CN517202 not provided;
NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469969;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128462	44128465		-
NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002308418;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128562	44128563	44128562	-
NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306853;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44132881	44132882	44132881	-
NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306764;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139584	44139585	44139583	-
NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003476461;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139591	44139592		-
NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309268;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139597	44139598	44139596	-
NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308248;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139619	44139619	44139619	-
NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002306775;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139690	44139690	44139690	-
NM_133259.4(LRPPRC):c.3151del	10128	LRPPRC	Likely pathogenic	-1	RCV003461798;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139695	44139695		-
NM_133259.4(LRPPRC):c.3149-2A>T	10128	LRPPRC	Likely pathogenic	-1	RCV003469955;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139699	44139699		-
NM_133259.4(LRPPRC):c.3148+1G>T	10128	LRPPRC	Likely pathogenic	-1	RCV003469953;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145163	44145163		-
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)	10128	LRPPRC	Likely pathogenic	1558936154	RCV000781512;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145182	44145182	NC_000002.11:g.44145182G>A	-
NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter)	10128	LRPPRC	Likely pathogenic	1202515342	RCV000671622;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145267	44145267	2:g.44145267C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3031del (p.Val1011fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469961;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145403	44145403		-
NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307968;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145421	44145421	44145420	-
NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs)	10128	LRPPRC	Likely pathogenic	1300725076	RCV000665798;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145428	44145431	2:g.44145428_44145431del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469943;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145433	44145448		-
NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter)	10128	LRPPRC	Likely pathogenic	1553396232	RCV000668076;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145450	44145450	2:g.44145450A>C	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2941del (p.Ile981fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307291;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145493	44145493	44145492	-
NM_133259.4(LRPPRC):c.2889del (p.Lys963fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002308166;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44152213	44152213	44152212	-
NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro)	10128	LRPPRC	Likely pathogenic	-1	RCV003225667;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44152220	44152220		-
NM_133259.4(LRPPRC):c.2737-1G>T	10128	LRPPRC	Likely pathogenic	1553398334	RCV000667374;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44153101	44153101	2:g.44153101C>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2736+1G>T	10128	LRPPRC	Likely pathogenic	1553400391	RCV000672077;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161328	44161328	2:g.44161328C>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2632dup (p.Met878fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309729;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161432	44161433	44161432	-
NM_133259.4(LRPPRC):c.2630-5_2630-2del	10128	LRPPRC	Likely pathogenic	-1	RCV003461801;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161437	44161440		-
NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469960;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161937	44161953		-
NM_133259.4(LRPPRC):c.2559dup (p.Val854fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461799;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161962	44161963		-
NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)	10128	LRPPRC	Likely pathogenic	1553400685	RCV000672873;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161964	44161977	2:g.44161964_44161977del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2505-1G>T	10128	LRPPRC	Likely pathogenic	1553400727	RCV000673452\|RCV002285020;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44162018	44162018	2:g.44162018C>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310585;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170841	44170842	44170840	-
NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter)	10128	LRPPRC	Likely pathogenic	1301842578	RCV000669196;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170880	44170880	2:g.44170880A>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2444del (p.Leu815fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310045;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170886	44170886	44170885	-
NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310377;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170923	44170924	44170922	-
NM_133259.4(LRPPRC):c.2343del (p.Asp783fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002308306;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170987	44170987	44170986	-
NM_133259.4(LRPPRC):c.2296+1G>A	10128	LRPPRC	Likely pathogenic	1553403303	RCV000673650;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172470	44172470	2:g.44172470C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2285del (p.Gly762fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461802;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172482	44172482		-
NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310159;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172520	44172521	44172520	-
NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV003469946;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172542	44172542		-
NM_133259.4(LRPPRC):c.2211-1G>A	10128	LRPPRC	Likely pathogenic	-1	RCV003469970;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172557	44172557		-
NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307073;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173342	44173343	44173342	-
NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002310097;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173376	44173376	44173376	-
NM_133259.4(LRPPRC):c.2080-1G>C	10128	LRPPRC	Likely pathogenic	1553403596	RCV000672256;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173383	44173383	2:g.44173383C>G	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461791;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174450	44174451		-
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002283382;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174503	44174503	44174503	-
NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs)	10128	LRPPRC	Likely pathogenic	1553403879	RCV000668938;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174504	44174505	2:g.44174504_44174505del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1966-2A>G	10128	LRPPRC	Likely pathogenic	-1	RCV003461796;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174511	44174511		-
NM_133259.4(LRPPRC):c.1965+2T>C	10128	LRPPRC	Likely pathogenic	-1	RCV002871026\|RCV003464615;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174868	44174868	NC_000002.11:g.44174868A>G	-
NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309603;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174887	44174888	44174886	-
NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469971;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174888	44174891		-
NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308049;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174904	44174904	44174904	-
NM_133259.4(LRPPRC):c.1842+2T>A	10128	LRPPRC	Likely pathogenic	1553404194	RCV000667500;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175549	44175549	2:g.44175549A>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1775del (p.Met592fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469958;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175618	44175618		-
NM_133259.4(LRPPRC):c.1735+2T>C	10128	LRPPRC	Likely pathogenic	-1	RCV003469948;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176739	44176739		-
NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter)	10128	LRPPRC	Likely pathogenic	1672822541	RCV001334481;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176781	44176781	44176781	-
NM_133259.4(LRPPRC):c.1677+1G>T	10128	LRPPRC	Likely pathogenic	2103624540	RCV002040742\|RCV003464387;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44177711	44177711	44177711	-
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter)	10128	LRPPRC	Likely pathogenic	1553406772	RCV000667860;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44184561	44184561	2:g.44184561G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter)	10128	LRPPRC	Likely pathogenic	896524026	RCV000668867;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187685	44187685	2:g.44187685G>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002306903;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187688	44187688	44187688	-
NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002307057;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187704	44187705	44187704	-
NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469962;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187713	44187714		-
NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310493;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187767	44187769	44187767	-
NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469947;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190822	44190826		-
NM_133259.4(LRPPRC):c.1385del (p.Leu462fs)	10128	LRPPRC	Likely pathogenic	1553408603	RCV000673044;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190830	44190830	2:g.44190830_44190830del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002310444;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190837	44190837	44190837	-
NM_133259.4(LRPPRC):c.1369+2T>A	10128	LRPPRC	Likely pathogenic	-1	RCV003230837;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200744	44200744		-
NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308442;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200838	44200838	44200838	-
NM_133259.4(LRPPRC):c.1261+2T>C	10128	LRPPRC	Likely pathogenic	1553410852	RCV000667170;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200932	44200932	2:g.44200932A>G	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461800;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200957	44200958		-
NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter)	10128	LRPPRC	Likely pathogenic	1553410866	RCV000669058;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200994	44200994	2:g.44200994G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469952;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200997	44201030		-
NM_133259.4(LRPPRC):c.1195del (p.Glu399fs)	10128	LRPPRC	Likely pathogenic	1553410876	RCV000666673;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201000	44201000	2:g.44201000_44201000del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002306614;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201016	44201016	44201016	-
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His)	10128	LRPPRC	Likely pathogenic	863224054	RCV000985154;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201018	44201018	2:g.44201018A>G	-
NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002309400;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201030	44201030	44201030	-
NM_133259.4(LRPPRC):c.1156-2A>C	10128	LRPPRC	Likely pathogenic	-1	RCV003469957;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201041	44201041		-
NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309782;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201326	44201329	44201326	-
NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter)	10128	LRPPRC	Likely pathogenic	1553410995	RCV000671275;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201353	44201353	2:g.44201353G>C	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306972;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201361	44201362	44201361	-
NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer)	10128	LRPPRC	Likely pathogenic	-1	RCV002307156;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201863	44201864	44201863	-
NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002310503;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201879	44201879	44201879	-
NM_133259.4(LRPPRC):c.811del (p.Leu271fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310308;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202283	44202283	44202282	-
NM_133259.4(LRPPRC):c.738-1G>A	10128	LRPPRC	Likely pathogenic	-1	RCV003469964;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202357	44202357		-
NM_133259.4(LRPPRC):c.738-2A>C	10128	LRPPRC	Likely pathogenic	-1	RCV003469954;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202358	44202358		-
NM_133259.4(LRPPRC):c.650+1G>C	10128	LRPPRC	Likely pathogenic	1249427615	RCV000666329\|RCV001376755;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44204132	44204132	2:g.44204132C>G	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.650+1G>A	10128	LRPPRC	Likely pathogenic	-1	RCV003469944;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204132	44204132		-
NM_133259.4(LRPPRC):c.650+1del	10128	LRPPRC	Likely pathogenic	-1	RCV003461794;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204132	44204132		-
NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter)	10128	LRPPRC	Likely pathogenic	1553411751	RCV000667377;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204183	44204183	2:g.44204183G>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)	10128	LRPPRC	Likely pathogenic	989113962	RCV000671441;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204296	44204296	2:g.44204296G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.580del (p.Gln194fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003476459;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204305	44204305		-
NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002309562;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204353	44204353	44204353	-
NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308153;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204354	44204354	44204354	-
NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308162;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204369	44204369	44204369	-
NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310385;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204375	44204376	44204375	-
NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002310389;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204377	44204377	44204377	-
NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002307136;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204382	44204382	44204382	-
NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV003476460;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204390	44204390		-
NM_133259.4(LRPPRC):c.469+1G>A	10128	LRPPRC	Likely pathogenic	1060499785	RCV000454266\|RCV002522742;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44206964	44206964	2:g.44206964C>T	ClinGen:CA16609552	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003461793;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44206977	44206978		-
NM_133259.4(LRPPRC):c.451del (p.Asp151fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469967;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44206983	44206983		-
NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310480;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44207027	44207028	44207026	-
NM_133259.4(LRPPRC):c.392del (p.Gly131fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002309569;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44207042	44207042	44207041	-
NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer)	10128	LRPPRC	Likely pathogenic	-1	RCV002309035;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44207057	44207058	44207057	-
NM_133259.4(LRPPRC):c.346+1G>T	10128	LRPPRC	Likely pathogenic	-1	RCV003469949;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209376	44209376		-
NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469945;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209402	44209403		-
NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter)	10128	LRPPRC	Likely pathogenic	1453934366	RCV000670107;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209469	44209469	2:g.44209469C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)	10128	LRPPRC	Likely pathogenic	1553413047	RCV000668430;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209469	44209472	2:g.44209469_44209472del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.245del (p.Gln82fs)	10128	LRPPRC	Likely pathogenic	-1	RCV003469959;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209478	44209478		-
NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV003469956;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209518	44209518		-
NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310297;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209530	44209537	44209530	-
NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter)	10128	LRPPRC	Likely pathogenic	-1	RCV002308025;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209572	44209572	44209572	-
NM_133259.4(LRPPRC):c.149+1G>T	10128	LRPPRC	Likely pathogenic	-1	RCV002302587;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222937	44222937	44222937	-
NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310169;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222993	44222994	44222993	-
NM_133259.4(LRPPRC):c.92del (p.Pro31fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306943;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222995	44222995	44222994	-
NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002310149;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223030	44223033	44223030	-
NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs)	10128	LRPPRC	Likely pathogenic	-1	RCV002306950;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223055	44223056	44223055	-
NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile)	10128	LRPPRC	Likely pathogenic	1553416989	RCV000673811;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223084	44223084	2:g.44223084C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)	10128	LRPPRC	Likely pathogenic	1160846305	RCV000672912;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223085	44223085	2:g.44223085A>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.*2376C>G	10128	LRPPRC	Uncertain significance	886056040	RCV000367651;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113363	44113363	NC_000002.11:g.44113363G>C	ClinGen:CA10615250	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2289A>T	10128	LRPPRC	Uncertain significance	777772528	RCV001139477;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113450	44113450	2:g.44113450T>A	-
NM_133259.4(LRPPRC):c.*2277A>G	10128	LRPPRC	Uncertain significance	886056041	RCV000396240;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113462	44113462	NC_000002.11:g.44113462T>C	ClinGen:CA10613379	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2245A>G	10128	LRPPRC	Uncertain significance	758080975	RCV000314407;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113494	44113494	NC_000002.11:g.44113494T>C	ClinGen:CA10615487	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2230A>C	10128	LRPPRC	Uncertain significance	866243257	RCV001139478;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113509	44113509	2:g.44113509T>G	-
NM_133259.4(LRPPRC):c.*2224A>C	10128	LRPPRC	Uncertain significance	757205247	RCV001139479;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113515	44113515	2:g.44113515T>G	-
NM_133259.4(LRPPRC):c.*2192A>G	10128	LRPPRC	Uncertain significance	189755235	RCV001139480;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113547	44113547	2:g.44113547T>C	-
NM_133259.4(LRPPRC):c.*2176A>T	10128	LRPPRC	Benign	73924082	RCV000371259;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113563	44113563	NC_000002.11:g.44113563T>A	ClinGen:CA10613870	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2157T>A	10128	LRPPRC	Uncertain significance	1376980323	RCV001140255;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113582	44113582	2:g.44113582A>T	-
NM_133259.4(LRPPRC):c.*2099C>A	10128	LRPPRC	Uncertain significance	771863074	RCV000269765;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113640	44113640	2:g.44113640G>T	ClinGen:CA10613873	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2042G>T	10128	LRPPRC	Uncertain significance	998481979	RCV001140256;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113697	44113697	2:g.44113697C>A	-
NM_133259.4(LRPPRC):c.*2041C>A	10128	LRPPRC	Uncertain significance	7581308	RCV000272856;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113698	44113698	2:g.44113698G>T	ClinGen:CA10613393	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*2041C>T	10128	LRPPRC	Benign	7581308	RCV000364997;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113698	44113698	2:g.44113698G>A	ClinGen:CA10613874	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1981A>T	10128	LRPPRC	Uncertain significance	180886841	RCV000320972;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113758	44113758	2:g.44113758T>A	ClinGen:CA10615488	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1961T>C	10128	LRPPRC	Likely benign	541683193	RCV000377959;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113778	44113778	2:g.44113778A>G	ClinGen:CA10615490	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1911G>A	10128	LRPPRC	Uncertain significance	533572540	RCV000267268;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113828	44113828	2:g.44113828C>T	ClinGen:CA10615492	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1895G>T	10128	LRPPRC	Uncertain significance	886056042	RCV000324711;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113844	44113844	2:g.44113844C>A	ClinGen:CA10615493	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1895G>A	10128	LRPPRC	Uncertain significance	886056042	RCV001142091;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113844	44113844	2:g.44113844C>T	-
NM_133259.4(LRPPRC):c.*1894C>T	10128	LRPPRC	Uncertain significance	563480210	RCV001142092;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113845	44113845	2:g.44113845G>A	-
NM_133259.4(LRPPRC):c.*1872C>T	10128	LRPPRC	Uncertain significance	147686285	RCV000372295;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113867	44113867	2:g.44113867G>A	ClinGen:CA10615254	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1816T>C	10128	LRPPRC	Uncertain significance	886056043	RCV000279438;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113923	44113923	NC_000002.11:g.44113923A>G	ClinGen:CA10613395	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1806A>C	10128	LRPPRC	Uncertain significance	886056044	RCV000336871;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113933	44113933	NC_000002.11:g.44113933T>G	ClinGen:CA10613398	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1752C>G	10128	LRPPRC	Uncertain significance	1670287619	RCV001142093;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44113987	44113987	2:g.44113987G>C	-
NM_133259.4(LRPPRC):c.*1719G>A	10128	LRPPRC	Uncertain significance	1670288640	RCV001137344;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114020	44114020	2:g.44114020C>T	-
NM_133259.4(LRPPRC):c.*1717C>T	10128	LRPPRC	Uncertain significance	1670288685	RCV001137345;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114022	44114022	2:g.44114022G>A	-
NM_133259.4(LRPPRC):c.*1689G>T	10128	LRPPRC	Uncertain significance	185767322	RCV001137346;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114050	44114050	2:g.44114050C>A	-
NM_133259.4(LRPPRC):c.*1685G>A	10128	LRPPRC	Uncertain significance	774874630	RCV001137347;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114054	44114054	2:g.44114054C>T	-
NM_133259.4(LRPPRC):c.*1684C>A	10128	LRPPRC	Uncertain significance	190524585	RCV001137348;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114055	44114055	2:g.44114055G>T	-
NM_133259.4(LRPPRC):c.*1665C>T	10128	LRPPRC	Benign	1139250	RCV000375009;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114074	44114074	2:g.44114074G>A	ClinGen:CA10613875	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1665C>G	10128	LRPPRC	Uncertain significance	1139250	RCV000292352;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114074	44114074	2:g.44114074G>C	ClinGen:CA10615495	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1653G>T	10128	LRPPRC	Uncertain significance	886056045	RCV000349460;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114086	44114086	2:g.44114086C>A	ClinGen:CA10613400	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1653G>A	10128	LRPPRC	Uncertain significance	886056045	RCV000403972;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114086	44114086	2:g.44114086C>T	ClinGen:CA10613401	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1652C>G	10128	LRPPRC	Uncertain significance	1139249	RCV001139578;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114087	44114087	2:g.44114087G>C	-
NM_133259.4(LRPPRC):c.*1587C>T	10128	LRPPRC	Uncertain significance	886056046	RCV000314499;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114152	44114152	2:g.44114152G>A	ClinGen:CA10613876	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1584G>A	10128	LRPPRC	Uncertain significance	372330583	RCV000343702;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114155	44114155	2:g.44114155C>T	ClinGen:CA10615496	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1564G>A	10128	LRPPRC	Likely benign	142436911	RCV000394805;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114175	44114175	2:g.44114175C>T	ClinGen:CA10615497	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1563C>T	10128	LRPPRC	Uncertain significance	186518252	RCV000308946;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114176	44114176	2:g.44114176G>A	ClinGen:CA10615498	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1498G>A	10128	LRPPRC	Uncertain significance	142253135	RCV000365911;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114241	44114241	2:g.44114241C>T	ClinGen:CA10615500	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1458A>G	10128	LRPPRC	Uncertain significance	371572374	RCV001140344;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114281	44114281	2:g.44114281T>C	-
NM_133259.4(LRPPRC):c.*1435C>T	10128	LRPPRC	Uncertain significance	78163628	RCV001140345;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114304	44114304	2:g.44114304G>A	-
NM_133259.4(LRPPRC):c.*1372G>A	10128	LRPPRC	Uncertain significance	750310194	RCV001140346;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114367	44114367	2:g.44114367C>T	-
NM_133259.4(LRPPRC):c.*1371C>T	10128	LRPPRC	Benign	111381413	RCV000316121;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114368	44114368	NC_000002.11:g.44114368G>A	ClinGen:CA10613407	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1370G>A	10128	LRPPRC	Uncertain significance	1319087266	RCV001140347;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114369	44114369	2:g.44114369C>T	-
NM_133259.4(LRPPRC):c.*1355C>T	10128	LRPPRC	Uncertain significance	1670301374	RCV001140348;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114384	44114384	2:g.44114384G>A	-
NM_133259.4(LRPPRC):c.*1343G>C	10128	LRPPRC	Benign	75002669	RCV000374358;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114396	44114396	NC_000002.11:g.44114396C>G	ClinGen:CA10613877	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1335T>C	10128	LRPPRC	Benign	76970610	RCV000263384;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114404	44114404	NC_000002.11:g.44114404A>G	ClinGen:CA10613408	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1152C>G	10128	LRPPRC	Uncertain significance	562361644	RCV000330263;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114587	44114587	NC_000002.11:g.44114587G>C	ClinGen:CA10613415	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1121G>T	10128	LRPPRC	Uncertain significance	371325663	RCV000387137;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114618	44114618	NC_000002.11:g.44114618C>A	ClinGen:CA10613418	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*1088G>C	10128	LRPPRC	Benign	79225555	RCV000294907;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114651	44114651	NC_000002.11:g.44114651C>G	ClinGen:CA10615548	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*996A>G	10128	LRPPRC	Uncertain significance	572718388	RCV001142199;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114743	44114743	2:g.44114743T>C	-
NM_133259.4(LRPPRC):c.*825A>G	10128	LRPPRC	Benign	17031753	RCV000352077;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44114914	44114914	NC_000002.11:g.44114914T>C	ClinGen:CA10615550	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*735C>G	10128	LRPPRC	Uncertain significance	1670322978	RCV001142200;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115004	44115004	2:g.44115004G>C	-
NM_133259.4(LRPPRC):c.*734A>G	10128	LRPPRC	Benign	114517881	RCV001142201;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115005	44115005	2:g.44115005T>C	-
NM_133259.4(LRPPRC):c.*667C>T	10128	LRPPRC	Uncertain significance	533028399	RCV000381024;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115072	44115072	NC_000002.11:g.44115072G>A	ClinGen:CA10613879	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*647G>C	10128	LRPPRC	Uncertain significance	886056049	RCV000288927;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115092	44115092	NC_000002.11:g.44115092C>G	ClinGen:CA10613883	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*590C>T	10128	LRPPRC	Uncertain significance	886056050	RCV000346109;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115149	44115149	NC_000002.11:g.44115149G>A	ClinGen:CA10615260	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*587C>T	10128	LRPPRC	Uncertain significance	760992842	RCV001137460;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115152	44115152	2:g.44115152G>A	-
NM_133259.4(LRPPRC):c.*577G>T	10128	LRPPRC	Uncertain significance	183378286	RCV000403685;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115162	44115162	NC_000002.11:g.44115162C>A	ClinGen:CA10615261	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*556A>T	10128	LRPPRC	Benign	1136998	RCV000301796;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115183	44115183	NC_000002.11:g.44115183T>A	ClinGen:CA10615551	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*534G>T	10128	LRPPRC	Uncertain significance	553327890	RCV000340290;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115205	44115205	NC_000002.11:g.44115205C>A	ClinGen:CA10615265	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*518A>T	10128	LRPPRC	Uncertain significance	138559252	RCV001137461;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115221	44115221	2:g.44115221T>A	-
NM_133259.4(LRPPRC):c.*485C>T	10128	LRPPRC	Uncertain significance	886056051	RCV000404534;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115254	44115254	NC_000002.11:g.44115254G>A	ClinGen:CA10613884	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*456G>C	10128	LRPPRC	Uncertain significance	886056052	RCV000305130;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115283	44115283	NC_000002.11:g.44115283C>G	ClinGen:CA10615274	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*420C>T	10128	LRPPRC	Uncertain significance	1354819175	RCV001139678;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115319	44115319	2:g.44115319G>A	-
NM_133259.4(LRPPRC):c.*409C>G	10128	LRPPRC	Uncertain significance	187382374	RCV000352995;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115330	44115330	NC_000002.11:g.44115330G>C	ClinGen:CA10615552	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*399G>A	10128	LRPPRC	Conflicting interpretations of pathogenicity	149268737	RCV000397846\|RCV002510877;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44115340	44115340	NC_000002.11:g.44115340C>T	ClinGen:CA10613885	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*343C>T	10128	LRPPRC	Uncertain significance	144519599	RCV000300194;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115396	44115396	NC_000002.11:g.44115396G>A	ClinGen:CA10613887	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.*218A>G	10128	LRPPRC	Uncertain significance	949524933	RCV001139679;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115521	44115521	2:g.44115521T>C	-
NM_133259.4(LRPPRC):c.*110G>A	10128	LRPPRC	Uncertain significance	997583952	RCV001139680;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115629	44115629	2:g.44115629C>T	-
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)	10128	LRPPRC	Uncertain significance	1293234237	RCV000665606;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115741	44115742	2:g.44115741_44115742insAGAAG	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)	10128	LRPPRC	Uncertain significance	139493671	RCV000357354;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115747	44115747	NC_000002.11:g.44115747A>C	ClinGen:CA1637771	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val)	10128	LRPPRC	Uncertain significance	886056053	RCV000274217;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115768	44115768	NC_000002.11:g.44115768G>C	ClinGen:CA10613889	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)	10128	LRPPRC	Conflicting interpretations of pathogenicity	149693840	RCV000198536\|RCV000767148\|RCV001140441;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44115792	44115792	NC_000002.11:g.44115792T>C	ClinGen:CA323052	CN169374 not specified;
NM_133259.4(LRPPRC):c.4128+37G>A	10128	LRPPRC	Benign	2955280	RCV001543226\|RCV001647385;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44116836	44116836	44116836	-
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)	10128	LRPPRC	Uncertain significance	1163476569	RCV000668374;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116872	44116873	2:g.44116872_44116873insA	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs)	10128	LRPPRC	Uncertain significance	759052246	RCV000490392\|RCV000825952\|RCV001560787;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374\|MedGen:CN517202	2	44116873	44116873	NC_000002.11:g.44116873del	ClinGen:CA1637812	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	10128	LRPPRC	Benign/Likely benign	147302249	RCV000922943\|RCV001140442;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116923	44116923	2:g.44116923C>T	-
NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser)	10128	LRPPRC	Uncertain significance	147302249	RCV001266993\|RCV001330270\|RCV003393936;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|	2	44116923	44116923	2:g.44116923C>A	-
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)	10128	LRPPRC	Conflicting interpretations of pathogenicity	148828179	RCV000670533\|RCV001855543;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44116924	44116924	2:g.44116924G>C	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=)	10128	LRPPRC	Likely benign	148828179	RCV000830706\|RCV001830851;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116924	44116924	2:g.44116924G>A	-
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=)	10128	LRPPRC	Likely benign	746573924	RCV000933384\|RCV001276353;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116927	44116927	2:g.44116927A>G	-
NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu)	10128	LRPPRC	Uncertain significance	146630100	RCV000196658\|RCV000767147\|RCV001271669;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44116945	44116945	NC_000002.11:g.44116945A>T	ClinGen:CA321082	CN169374 not specified;
NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=)	10128	LRPPRC	Likely benign	202177904	RCV000976542\|RCV001271670;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44117002	44117002	2:g.44117002A>G	-
NM_133259.4(LRPPRC):c.3986-11_3986-8dup	10128	LRPPRC	Conflicting interpretations of pathogenicity	764564351	RCV000664704\|RCV001464969;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44117022	44117023	2:g.44117022_44117023insAAAG	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg)	10128	LRPPRC	Uncertain significance	747154844	RCV001279484;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121734	44121734	2:g.44121734G>C	-
NM_133259.4(LRPPRC):c.3901-6T>G	10128	LRPPRC	Uncertain significance	553466522	RCV000669691;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44121774	44121774	2:g.44121774A>C	ClinGen:CA1637881	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3900+15C>T	10128	LRPPRC	Benign	76850904	RCV000370188\|RCV001512924;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44123758	44123758	2:g.44123758G>A	ClinGen:CA1637905	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3900+14C>T	10128	LRPPRC	Benign	3795859	RCV000277937\|RCV001513256;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44123759	44123759	2:g.44123759G>A	ClinGen:CA1637906	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)	10128	LRPPRC	Uncertain significance	759297611	RCV000669929\|RCV002531240;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44123804	44123806	2:g.44123804_44123806del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=)	10128	LRPPRC	Likely benign	571550652	RCV000905032\|RCV001271671;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44123818	44123818	2:g.44123818C>G	-
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser)	10128	LRPPRC	Uncertain significance	886056054	RCV000326024;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126446	44126446	2:g.44126446T>C	ClinGen:CA10613890	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu)	10128	LRPPRC	Uncertain significance	776488880	RCV001279485;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126641	44126641	2:g.44126641C>G	-
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	145105621	RCV000981947\|RCV001140443;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126648	44126648	2:g.44126648G>A	-
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser)	10128	LRPPRC	Uncertain significance	775734947	RCV001142298;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126655	44126655	2:g.44126655T>G	-
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	370683872	RCV001142299\|RCV001460553;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44126666	44126666	2:g.44126666G>A	-
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)	10128	LRPPRC	Conflicting interpretations of pathogenicity	140482502	RCV000382937\|RCV000912653;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44126673	44126673	2:g.44126673T>C	ClinGen:CA320869	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp)	10128	LRPPRC	Benign	113974315	RCV000200020\|RCV000290393\|RCV000513888;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44126719	44126719	2:g.44126719T>C	ClinGen:CA324568	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr)	10128	LRPPRC	Uncertain significance	142097048	RCV000329051\|RCV001660699;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44126728	44126728	2:g.44126728C>T	ClinGen:CA1638018	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)	10128	LRPPRC	Uncertain significance	370537508	RCV000664804;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126736	44126736	2:g.44126736A>G	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3570-3C>T	10128	LRPPRC	Benign	35113761	RCV000126664\|RCV000676631\|RCV000999761;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44126747	44126747	2:g.44126747G>A	ClinGen:CA291987	CN517202 not provided;
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp)	10128	LRPPRC	Uncertain significance	1670878489	RCV001291689;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128460	44128460	44128460	-
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr)	10128	LRPPRC	Uncertain significance	911047642	RCV001142300\|RCV003259118;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44128555	44128555	2:g.44128555A>G	-
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val)	10128	LRPPRC	Uncertain significance	1670882770	RCV001142301;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128577	44128577	2:g.44128577T>C	-
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)	10128	LRPPRC	Uncertain significance	760016065	RCV000673209\|RCV002230704;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374	2	44128598	44128598	2:g.44128598G>A	ClinGen:CA1638059	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=)	10128	LRPPRC	Likely benign	765813800	RCV000917635\|RCV001836014;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44128617	44128617	2:g.44128617A>G	-
NM_133259.4(LRPPRC):c.3364+6T>A	10128	LRPPRC	Uncertain significance	543620356	RCV000284952\|RCV002519975;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44132825	44132825	2:g.44132825A>T	ClinGen:CA10613419	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr)	10128	LRPPRC	Uncertain significance	200611889	RCV000277083\|RCV002494862\|RCV002518973;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44132918	44132918	2:g.44132918C>T	ClinGen:CA1638108	CN169374 not specified;
NM_133259.4(LRPPRC):c.3275+97T>C	10128	LRPPRC	Benign	17424482	RCV001543268\|RCV001647386;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44139474	44139474	44139474	-
NM_133259.4(LRPPRC):c.3275+7G>A	10128	LRPPRC	Conflicting interpretations of pathogenicity	111392631	RCV000424044\|RCV000727464\|RCV001274196;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139564	44139564	2:g.44139564C>T	ClinGen:CA1638133	CN169374 not specified;
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=)	10128	LRPPRC	Likely benign	755280196	RCV001457075\|RCV001832591;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44139672	44139672	44139672	-
NM_133259.4(LRPPRC):c.3148+12C>T	10128	LRPPRC	Conflicting interpretations of pathogenicity	199684766	RCV000665037\|RCV002060810;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44145152	44145152	2:g.44145152G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3148+2C>T	10128	LRPPRC	Uncertain significance	1553396068	RCV000672540\|RCV002532126;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44145162	44145162	2:g.44145162G>A	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	768083517	RCV001137556\|RCV001393670;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44145219	44145219	2:g.44145219T>G	-
NM_133259.4(LRPPRC):c.3039+21C>A	10128	LRPPRC	Benign	7568481	RCV001543269\|RCV001712996;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44145374	44145374	44145374	-
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)	10128	LRPPRC	Conflicting interpretations of pathogenicity	113374262	RCV000965602\|RCV001828499\|RCV002526550;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44145400	44145400	2:g.44145400G>A	ClinGen:CA1638234	CN169374 not specified;
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	147000685	RCV000968874\|RCV001137557;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145404	44145404	2:g.44145404G>A	ClinGen:CA1638235	CN169374 not specified;
NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr)	10128	LRPPRC	Uncertain significance	912716897	RCV000488935\|RCV000678292\|RCV003419824;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|	2	44145453	44145453	2:g.44145453C>G	ClinGen:CA46441867	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)	10128	LRPPRC	Conflicting interpretations of pathogenicity	774857058	RCV000198211\|RCV000675141\|RCV002228880;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374	2	44145468	44145468	NC_000002.11:g.44145468C>T	ClinGen:CA322715	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro)	10128	LRPPRC	Uncertain significance	774857058	RCV001324848\|RCV001830994;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145468	44145468	44145468	-
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)	10128	LRPPRC	Conflicting interpretations of pathogenicity	199706677	RCV000196348\|RCV000764412;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145469	44145469	NC_000002.11:g.44145469G>A	ClinGen:CA320765	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)	10128	LRPPRC	Likely benign	1052539943	RCV000979510\|RCV001274197;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44145530	44145530	2:g.44145530G>A	-
NM_133259.4(LRPPRC):c.2896+26C>T	10128	LRPPRC	Benign	4952694	RCV001543270\|RCV001655844;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44152180	44152180	44152180	-
NM_133259.4(LRPPRC):c.2806-110C>A	10128	LRPPRC	Benign	4953039	RCV001543271\|RCV001676040;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44152406	44152406	44152406	-
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser)	10128	LRPPRC	Benign/Likely benign	775312269	RCV000926729\|RCV001826928\|RCV003353083;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44153076	44153076	2:g.44153076C>A	-
NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val)	10128	LRPPRC	Uncertain significance	-1	RCV002753597\|RCV003135273;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44153084	44153084	NC_000002.11:g.44153084G>A	-
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)	10128	LRPPRC	Uncertain significance	1463658772	RCV000664653\|RCV003323665;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374	2	44153096	44153096	2:g.44153096G>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe)	10128	LRPPRC	Uncertain significance	886056055	RCV000278916;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161385	44161385	2:g.44161385G>A	ClinGen:CA10613428	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp)	10128	LRPPRC	Uncertain significance	139192988	RCV000845053\|RCV002538342;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44161912	44161912	2:g.44161912C>G	-
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)	10128	LRPPRC	Conflicting interpretations of pathogenicity	200138144	RCV000977664\|RCV001139785;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161953	44161953	2:g.44161953T>C	-
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=)	10128	LRPPRC	Benign	4494798	RCV000117557\|RCV000336341\|RCV000676632;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44161960	44161960	2:g.44161960T>C	ClinGen:CA288951	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu)	10128	LRPPRC	Uncertain significance	-1	RCV003134108;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161965	44161965	NC_000002.11:g.44161965T>C	-
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His)	10128	LRPPRC	Uncertain significance	1672219378	RCV001139786;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44161977	44161977	2:g.44161977A>G	-
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)	10128	LRPPRC	Benign	115993634	RCV000126656\|RCV000676633\|RCV001139787;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170849	44170849	2:g.44170849T>C	ClinGen:CA291976	CN517202 not provided;
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg)	10128	LRPPRC	Uncertain significance	774104921	RCV001139788;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170859	44170859	2:g.44170859A>C	-
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=)	10128	LRPPRC	Likely benign	373554506	RCV000983742\|RCV001827121;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44170938	44170938	2:g.44170938A>G	-
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056056	RCV000671831\|RCV002057700;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44170945	44170945	2:g.44170945G>A	ClinGen:CA10615283	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=)	10128	LRPPRC	Benign	139634347	RCV000126655\|RCV000958874\|RCV001001515;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44171005	44171005	2:g.44171005T>C	ClinGen:CA291974	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2296+27T>G	10128	LRPPRC	Benign	28394191	RCV001541715\|RCV001543272;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172444	44172444	44172444	-
NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile)	10128	LRPPRC	Uncertain significance	-1	RCV003131510;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172504	44172504	NC_000002.11:g.44172504C>T	-
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe)	10128	LRPPRC	Uncertain significance	779873239	RCV000368192;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44172539	44172539	2:g.44172539G>A	ClinGen:CA1638538	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His)	10128	LRPPRC	Uncertain significance	187274438	RCV000396384\|RCV002288976;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44172551	44172551	2:g.44172551C>T	ClinGen:CA1638541	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2210+10C>T	10128	LRPPRC	Conflicting interpretations of pathogenicity	200747013	RCV001418953\|RCV003129856;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173242	44173242	2:g.44173242G>A	ClinGen:CA1638564	CN169374 not specified;
NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile)	10128	LRPPRC	Uncertain significance	2105082493	RCV001839141;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173283	44173283	44173283	-
NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)	10128	LRPPRC	Uncertain significance	375559765	RCV001563474\|RCV001827479;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44173321	44173321	44173321	-
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=)	10128	LRPPRC	Benign/Likely benign	118188415	RCV000314446\|RCV000612975\|RCV000939927;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374\|MedGen:CN517202	2	44173344	44173344	2:g.44173344T>C	ClinGen:CA1638579	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.2080-40A>C	10128	LRPPRC	Benign	7594526	RCV001543273\|RCV001597300;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44173422	44173422	44173422	-
NM_133259.4(LRPPRC):c.2079+10G>A	10128	LRPPRC	Likely benign	545497810	RCV000601447\|RCV000939556\|RCV002498991;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174386	44174386	2:g.44174386C>T	ClinGen:CA1638611	CN169374 not specified;
NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu)	10128	LRPPRC	Uncertain significance	372341254	RCV000197246\|RCV001274198\|RCV003343691;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44174403	44174403	NC_000002.11:g.44174403G>A	ClinGen:CA321688	CN169374 not specified;
NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val)	10128	LRPPRC	Uncertain significance	863224056	RCV000195925\|RCV001833148;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174436	44174436	NC_000002.11:g.44174436T>A	ClinGen:CA320315	CN169374 not specified;
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)	10128	LRPPRC	Conflicting interpretations of pathogenicity	149243712	RCV000198972\|RCV001140553;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174455	44174455	2:g.44174455C>T	ClinGen:CA323515	CN169374 not specified;
NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=)	10128	LRPPRC	Uncertain significance	1421341249	RCV001279486;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174477	44174477	2:g.44174477G>A	-
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)	10128	LRPPRC	Uncertain significance	1553403993	RCV000671392;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174898	44174900	2:g.44174898_44174900del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	200017171	RCV000902482\|RCV001140554;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174906	44174906	2:g.44174906G>A	-
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)	10128	LRPPRC	Conflicting interpretations of pathogenicity	148575027	RCV000362182\|RCV000676634;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44174907	44174907	2:g.44174907T>C	ClinGen:CA319900	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1921-54A>T	10128	LRPPRC	Benign	35768060	RCV000830905\|RCV001543274;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44174968	44174968	2:g.44174968T>A	-
NM_133259.4(LRPPRC):c.1920+11A>G	10128	LRPPRC	Conflicting interpretations of pathogenicity	373513189	RCV001140555\|RCV002070682;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44175250	44175250	2:g.44175250T>C	-
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)	10128	LRPPRC	Uncertain significance	1391434905	RCV000671065\|RCV003458498;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|	2	44175292	44175294	2:g.44175292_44175294del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)	10128	LRPPRC	Benign/Likely benign	35881858	RCV000126654\|RCV000270035\|RCV000946606;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44175293	44175293	2:g.44175293G>A	ClinGen:CA291972	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)	10128	LRPPRC	Uncertain significance	373011028	RCV000664932\|RCV002530642;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44175301	44175301	2:g.44175301C>T	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)	10128	LRPPRC	Uncertain significance	762224854	RCV000666539;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175318	44175318	2:g.44175318A>C	ClinGen:CA1638698	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1843-28T>G	10128	LRPPRC	Benign	72877186	RCV000830867\|RCV001543275;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175366	44175366	2:g.44175366A>C	-
NM_133259.4(LRPPRC):c.1842+10C>T	10128	LRPPRC	Conflicting interpretations of pathogenicity	373649496	RCV000430924\|RCV000886107\|RCV001142409;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175541	44175541	2:g.44175541G>A	ClinGen:CA1638735	CN169374 not specified;
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr)	10128	LRPPRC	Benign/Likely benign	374400665	RCV000918177\|RCV001274199;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175552	44175552	2:g.44175552A>G	-
NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe)	10128	LRPPRC	Uncertain significance	760086210	RCV001279487;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175628	44175628	2:g.44175628T>A	-
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val)	10128	LRPPRC	Uncertain significance	775978547	RCV000365977;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175631	44175631	2:g.44175631A>C	ClinGen:CA1638758	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1736-14G>A	10128	LRPPRC	Benign/Likely benign	116117684	RCV000126653\|RCV002055662\|RCV002498618;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44175671	44175671	2:g.44175671C>T	ClinGen:CA291971	CN169374 not specified;
NM_133259.4(LRPPRC):c.1735+5C>G	10128	LRPPRC	Uncertain significance	373476696	RCV001142410;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176736	44176736	2:g.44176736G>C	-
NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His)	10128	LRPPRC	Uncertain significance	762974687	RCV001279488;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176770	44176770	2:g.44176770C>T	-
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)	10128	LRPPRC	Conflicting interpretations of pathogenicity	144826521	RCV000488138\|RCV000764413\|RCV001266183;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44176798	44176798	2:g.44176798T>A	ClinGen:CA322360	CN517202 not provided;
NM_133259.4(LRPPRC):c.1678-2dup	10128	LRPPRC	Uncertain significance	1553404545	RCV000672750;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176799	44176800	2:g.44176799_44176800insT	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1678-7T>C	10128	LRPPRC	Conflicting interpretations of pathogenicity	201370020	RCV000945032\|RCV001142411;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44176805	44176805	2:g.44176805A>G	-
NM_133259.4(LRPPRC):c.1677+152G>A	10128	LRPPRC	Benign	59338949	RCV000844526\|RCV001543276;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44177560	44177560	2:g.44177560C>T	-
NM_133259.4(LRPPRC):c.1677+11C>G	10128	LRPPRC	Benign	58811869	RCV000264344\|RCV001513062;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44177701	44177701	2:g.44177701G>C	ClinGen:CA1638837	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	376787135	RCV000378695\|RCV002519976;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44177715	44177715	2:g.44177715G>A	ClinGen:CA1638840	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1649+11C>T	10128	LRPPRC	Likely benign	200115839	RCV000424110\|RCV000665668\|RCV002526336;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44184513	44184513	2:g.44184513G>A	ClinGen:CA1638869	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1649+8G>A	10128	LRPPRC	Likely benign	370119141	RCV000896466\|RCV001274200;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44184516	44184516	2:g.44184516C>T	-
NM_133259.4(LRPPRC):c.1649+3A>G	10128	LRPPRC	Uncertain significance	-1	RCV003131509;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44184521	44184521	NC_000002.11:g.44184521T>C	-
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=)	10128	LRPPRC	Likely benign	1352013098	RCV000929492\|RCV001274201;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44184543	44184543	2:g.44184543G>A	-
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser)	10128	LRPPRC	Uncertain significance	1673163352	RCV001142412;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44184550	44184550	2:g.44184550T>A	-
NM_133259.4(LRPPRC):c.1583-14A>G	10128	LRPPRC	Conflicting interpretations of pathogenicity	372371276	RCV000286724\|RCV000601360\|RCV002057701;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374\|MedGen:CN517202	2	44184604	44184604	2:g.44184604T>C	ClinGen:CA1638885	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1582+28T>C	10128	LRPPRC	Benign	62135104	RCV001543277\|RCV001595100;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44187652	44187652	44187652	-
NM_133259.4(LRPPRC):c.1582+7A>G	10128	LRPPRC	Uncertain significance	863225446	RCV000202398;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187673	44187673	2:g.44187673T>C	ClinGen:CA279905,OMIM:607544.0006	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=)	10128	LRPPRC	Likely benign	775445022	RCV001279489\|RCV001469929;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44187684	44187684	2:g.44187684T>C	-
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp)	10128	LRPPRC	Uncertain significance	754771907	RCV001137660;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187704	44187704	2:g.44187704T>C	-
NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val)	10128	LRPPRC	Uncertain significance	1294325794	RCV001334480;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187715	44187715	44187715	-
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly)	10128	LRPPRC	Benign	115693730	RCV000200828\|RCV000884171\|RCV001137661;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187733	44187733	2:g.44187733G>C	ClinGen:CA325410	CN169374 not specified;
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=)	10128	LRPPRC	Likely benign	1163183496	RCV000930540\|RCV001836023;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187756	44187756	2:g.44187756A>G	-
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp)	10128	LRPPRC	Benign	571886021	RCV000438091\|RCV000898512\|RCV001137662;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44187771	44187771	2:g.44187771T>A	ClinGen:CA1638939	CN169374 not specified;
NM_133259.4(LRPPRC):c.1489-56T>G	10128	LRPPRC	Benign	10190161	RCV001543278\|RCV001712997;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44187829	44187829	44187829	-
NM_133259.4(LRPPRC):c.1488+8C>G	10128	LRPPRC	Likely benign	772715775	RCV000919991\|RCV001271389;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190719	44190719	2:g.44190719G>C	-
NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn)	10128	LRPPRC	Uncertain significance	-1	RCV003131508;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190759	44190759	NC_000002.11:g.44190759C>T	-
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala)	10128	LRPPRC	Benign	35035668	RCV000126651\|RCV000223987\|RCV001001626;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190783	44190783	2:g.44190783T>C	ClinGen:CA291968,UniProtKB:P42704#VAR_052935	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)	10128	LRPPRC	Conflicting interpretations of pathogenicity	115507225	RCV000676635\|RCV001137663;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190789	44190789	2:g.44190789T>C	ClinGen:CA320267	CN517202 not provided;
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056057	RCV000672876\|RCV002519977;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44190796	44190796	2:g.44190796A>G	ClinGen:CA10615559	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg)	10128	LRPPRC	Uncertain significance	957783084	RCV000432315\|RCV001835793;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44190825	44190825	2:g.44190825C>G	ClinGen:CA16603322	CN517202 not provided;
NM_133259.4(LRPPRC):c.1369+5G>A	10128	LRPPRC	Uncertain significance	199628926	RCV000667137\|RCV002523133\|RCV003352843;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	2	44200741	44200741	2:g.44200741C>T	ClinGen:CA10613437	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)	10128	LRPPRC	Uncertain significance	886056058	RCV000672191;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200772	44200772	2:g.44200772C>A	ClinGen:CA10615299	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu)	10128	LRPPRC	Uncertain significance	1391510968	RCV001578666;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200799	44200799	44200799	-
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=)	10128	LRPPRC	Uncertain significance	886056059	RCV000391337;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200810	44200810	2:g.44200810A>G	ClinGen:CA10615300	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)	10128	LRPPRC	Conflicting interpretations of pathogenicity	146515622	RCV000676636\|RCV000764414;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200814	44200814	2:g.44200814C>T	ClinGen:CA320411	CN517202 not provided;
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser)	10128	LRPPRC	Uncertain significance	760756132	RCV000290261;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200815	44200815	NC_000002.11:g.44200815C>T	ClinGen:CA1639027	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=)	10128	LRPPRC	Uncertain significance	1673918352	RCV001279490;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200816	44200816	2:g.44200816T>C	-
NM_133259.4(LRPPRC):c.1262-12T>C	10128	LRPPRC	Conflicting interpretations of pathogenicity	149449510	RCV000345203\|RCV001705505;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44200865	44200865	NC_000002.11:g.44200865A>G	ClinGen:CA1639035	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)	10128	LRPPRC	Uncertain significance	373908553	RCV000523785\|RCV000667875\|RCV003323585;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN169374	2	44200942	44200942	2:g.44200942T>G	ClinGen:CA1639049	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=)	10128	LRPPRC	Likely benign	1263285909	RCV000981966\|RCV001827108;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200947	44200947	2:g.44200947G>A	-
NM_133259.4(LRPPRC):c.1236T>C (p.His412=)	10128	LRPPRC	Likely benign	764634151	RCV000841523\|RCV001274203;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200959	44200959	2:g.44200959A>G	-
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val)	10128	LRPPRC	Uncertain significance	368164663	RCV000515085\|RCV001139881;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200976	44200976	2:g.44200976G>C	ClinGen:CA1639054	CN517202 not provided;
NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser)	10128	LRPPRC	Uncertain significance	-1	RCV003134107;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200979	44200979	NC_000002.11:g.44200979G>A	-
NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr)	10128	LRPPRC	Uncertain significance	148016991	RCV000196886\|RCV001833147;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44200984	44200984	2:g.44200984G>T	ClinGen:CA321303	CN169374 not specified;
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)	10128	LRPPRC	Uncertain significance	863224054	RCV000200464\|RCV000985153;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201018	44201018	2:g.44201018A>C	ClinGen:CA325042	CN169374 not specified;
NM_133259.4(LRPPRC):c.1155+30A>G	10128	LRPPRC	Benign	7593842	RCV000830852\|RCV001543316;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201259	44201259	2:g.44201259T>C	-
NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile)	10128	LRPPRC	Uncertain significance	-1	RCV003134112;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201357	44201357	NC_000002.11:g.44201357C>T	-
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=)	10128	LRPPRC	Likely benign	768509632	RCV000943892\|RCV001832169;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201369	44201369	2:g.44201369G>A	-
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=)	10128	LRPPRC	Benign	4953042	RCV000117555\|RCV000314812\|RCV000676637;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44201376	44201376	2:g.44201376T>C	ClinGen:CA153618	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=)	10128	LRPPRC	Uncertain significance	1673950899	RCV001139882;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201406	44201406	2:g.44201406G>A	-
NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=)	10128	LRPPRC	Uncertain significance	1673950990	RCV001578667;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201409	44201409	44201409	-
NM_133259.4(LRPPRC):c.1009+15A>T	10128	LRPPRC	Conflicting interpretations of pathogenicity	572849791	RCV001139883\|RCV002070666;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44201738	44201738	2:g.44201738T>A	-
NM_133259.4(LRPPRC):c.908G>A (p.Arg303His)	10128	LRPPRC	Uncertain significance	745653250	RCV000199259\|RCV001274204;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201854	44201854	2:g.44201854C>T	ClinGen:CA323787	CN169374 not specified;
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=)	10128	LRPPRC	Likely benign	762093225	RCV001442382\|RCV001832565;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201874	44201874	44201874	-
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)	10128	LRPPRC	Uncertain significance	774622259	RCV000668009;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44201880	44201882	2:g.44201880_44201882del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.864+11T>G	10128	LRPPRC	Benign/Likely benign	193090896	RCV000424136\|RCV001140657\|RCV002061422;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44202219	44202219	2:g.44202219A>C	ClinGen:CA1639196	CN169374 not specified;
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn)	10128	LRPPRC	Uncertain significance	1559043209	RCV001140658;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202250	44202250	2:g.44202250C>T	-
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	766703715	RCV000350853\|RCV002523134;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44202251	44202251	2:g.44202251G>A	ClinGen:CA1639204	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His)	10128	LRPPRC	Uncertain significance	946957597	RCV001279491\|RCV003235533;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44202286	44202286	2:g.44202286A>G	-
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly)	10128	LRPPRC	Uncertain significance	143290138	RCV001140659;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202291	44202291	2:g.44202291T>C	-
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala)	10128	LRPPRC	Uncertain significance	143290138	RCV001140660;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202291	44202291	2:g.44202291T>G	-
NM_133259.4(LRPPRC):c.802G>C (p.Asp268His)	10128	LRPPRC	Uncertain significance	756849117	RCV001200428\|RCV001833767;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202292	44202292	2:g.44202292C>G	-
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=)	10128	LRPPRC	Likely benign	749089358	RCV000933083\|RCV001826965;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202317	44202317	2:g.44202317T>C	-
NM_133259.4(LRPPRC):c.738-18T>C	10128	LRPPRC	Benign/Likely benign	189675905	RCV001519652\|RCV002506627;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202374	44202374	44202374	-
NM_133259.4(LRPPRC):c.738-70T>C	10128	LRPPRC	Benign	17031786	RCV000830851\|RCV001543317;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44202426	44202426	2:g.44202426A>G	-
NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala)	10128	LRPPRC	Uncertain significance	765911841	RCV001335349;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44203324	44203324	44203324	-
NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu)	10128	LRPPRC	Uncertain significance	1674047513	RCV001279492;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44203343	44203343	2:g.44203343T>C	-
NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe)	10128	LRPPRC	Uncertain significance	146293544	RCV000824007\|RCV001830824;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204163	44204163	2:g.44204163T>A	-
NM_133259.4(LRPPRC):c.592_603del	10128	LRPPRC	Uncertain significance	-1	RCV000489429\|RCV000678293;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204180	44204191	2:g.44204180_44204191del	ClinGen:CA1639289	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)	10128	LRPPRC	Uncertain significance	199727887	RCV000664807\|RCV001354819;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44204298	44204298	2:g.44204298T>G	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=)	10128	LRPPRC	Likely benign	148494289	RCV000919842\|RCV001271390;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204303	44204303	2:g.44204303T>C	-
NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp)	10128	LRPPRC	Uncertain significance	-1	RCV003134110;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204318	44204318	NC_000002.11:g.44204318C>G	-
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	570349090	RCV000840751\|RCV001140661;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204360	44204360	2:g.44204360A>G	-
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys)	10128	LRPPRC	Conflicting interpretations of pathogenicity	187584458	RCV001767577\|RCV002489777;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44204370	44204370	44204370	-
NM_133259.4(LRPPRC):c.442A>C (p.Arg148=)	10128	LRPPRC	Likely benign	138378033	RCV000900598\|RCV001274205;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44206992	44206992	2:g.44206992T>G	-
NM_133259.4(LRPPRC):c.441T>C (p.His147=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056060	RCV000393281\|RCV002519978;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44206993	44206993	NC_000002.11:g.44206993A>G	ClinGen:CA10613893	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.348T>C (p.Gly116=)	10128	LRPPRC	Uncertain significance	1674229974	RCV001279493;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44207086	44207086	2:g.44207086A>G	-
NM_133259.4(LRPPRC):c.346+9A>C	10128	LRPPRC	Conflicting interpretations of pathogenicity	754438818	RCV000944677\|RCV001140662;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209368	44209368	2:g.44209368T>G	-
NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe)	10128	LRPPRC	Uncertain significance	750132738	RCV001335347;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209385	44209385	44209385	-
NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu)	10128	LRPPRC	Uncertain significance	-1	RCV003134109;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209404	44209404	NC_000002.11:g.44209404T>C	-
NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys)	10128	LRPPRC	Uncertain significance	771473230	RCV001330269\|RCV001863218;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44209428	44209428	44209428	-
NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala)	10128	LRPPRC	Uncertain significance	1674344719	RCV001330268;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209434	44209434	44209434	-
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=)	10128	LRPPRC	Likely benign	187590711	RCV000983591\|RCV001274206;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209447	44209447	2:g.44209447A>G	-
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)	10128	LRPPRC	Uncertain significance	746311499	RCV000674263;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209470	44209484	2:g.44209470_44209484del	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=)	10128	LRPPRC	Benign	6741066	RCV000117556\|RCV000311110\|RCV000676638;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44209477	44209477	2:g.44209477C>T	ClinGen:CA153620	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala)	10128	LRPPRC	Uncertain significance	1674350152	RCV001279494;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209506	44209506	2:g.44209506T>C	-
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val)	10128	LRPPRC	Conflicting interpretations of pathogenicity	546399905	RCV000356535\|RCV002523135\|RCV002519979;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	2	44209544	44209544	NC_000002.11:g.44209544G>A	ClinGen:CA1639442	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.150-233G>T	10128	LRPPRC	Benign	4276071	RCV000844519\|RCV001543318;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44209806	44209806	2:g.44209806C>A	-
NM_133259.4(LRPPRC):c.149+57G>T	10128	LRPPRC	Benign	62135152	RCV001543319\|RCV001712999;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44222881	44222881	44222881	-
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	559176918	RCV000944668\|RCV001142541;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222946	44222946	2:g.44222946G>C	-
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056061	RCV000667549\|RCV000939926;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44222952	44222952	NC_000002.11:g.44222952G>A	ClinGen:CA10613896	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)	10128	LRPPRC	Uncertain significance	886056062	RCV000673117;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222957	44222957	NC_000002.11:g.44222957G>C	ClinGen:CA10613440	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys)	10128	LRPPRC	Uncertain significance	1014582333	RCV001334479\|RCV002276694;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44222971	44222971	44222971	-
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056063	RCV000352889\|RCV000922944;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44222973	44222973	NC_000002.11:g.44222973G>A	ClinGen:CA10613441	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=)	10128	LRPPRC	Likely benign	975809121	RCV001486762\|RCV001832635;	N	MedGen:C3661900\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222976	44222976	44222976	-
NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser)	10128	LRPPRC	Uncertain significance	763948159	RCV000198448\|RCV001828023;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222978	44222978	2:g.44222978C>A	ClinGen:CA322953	CN169374 not specified;
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=)	10128	LRPPRC	Likely benign	751637061	RCV000982252\|RCV001827110;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222979	44222979	2:g.44222979G>A	-
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)	10128	LRPPRC	Conflicting interpretations of pathogenicity	886056064	RCV000667732;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44222991	44222991	NC_000002.11:g.44222991G>A	ClinGen:CA10613897	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)	10128	LRPPRC	Uncertain significance	760874906	RCV000665919;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223007	44223008	2:g.44223007_44223008insGGAGGCGCAGGGAGAGCG	-	C1857355 220111 Leigh syndrome, French Canadian type;
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)	10128	LRPPRC	Conflicting interpretations of pathogenicity	116727742	RCV000199980\|RCV000322781\|RCV000757440;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44223008	44223008	2:g.44223008G>A	ClinGen:CA324529	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)	10128	LRPPRC	Uncertain significance	780400922	RCV000592673\|RCV000764415;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223013	44223013	NC_000002.11:g.44223013C>T	ClinGen:CA1639470	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val)	10128	LRPPRC	Uncertain significance	749629864	RCV000273157\|RCV002266955;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:CN517202	2	44223017	44223017	NC_000002.11:g.44223017G>C	ClinGen:CA1639471	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)	10128	LRPPRC	Conflicting interpretations of pathogenicity	181626399	RCV000126661\|RCV000328289\|RCV000676639;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44223023	44223023	2:g.44223023G>C	ClinGen:CA291983	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)	10128	LRPPRC	Conflicting interpretations of pathogenicity	184339274	RCV000126659\|RCV000382726\|RCV000757441;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44223029	44223029	2:g.44223029G>A	ClinGen:CA291981	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=)	10128	LRPPRC	Likely benign	1572599036	RCV000975330\|RCV001271391;	N	MedGen:CN517202\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223045	44223045	2:g.44223045G>A	-
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly)	10128	LRPPRC	Benign	114205971	RCV000126658\|RCV000288380\|RCV000676640;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44223046	44223046	2:g.44223046G>C	ClinGen:CA291979	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val)	10128	LRPPRC	Uncertain significance	886056065	RCV000352770;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223079	44223079	NC_000002.11:g.44223079G>A	ClinGen:CA10613899	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)	10128	LRPPRC	Conflicting interpretations of pathogenicity	200686732	RCV000901776\|RCV000986628\|RCV001137778\|RCV002517228;	N	MedGen:C3661900\|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000, Orphanet:506\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MeSH:D030342,MedGen:C0950123	2	44223080	44223080	2:g.44223080C>T	ClinGen:CA324447	CN169374 not specified;
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)	10128	LRPPRC	Conflicting interpretations of pathogenicity	200686732	RCV002271940\|RCV002300671\|RCV003101542;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472\|MedGen:C3661900	2	44223080	44223080	44223080	-
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val)	10128	LRPPRC	Uncertain significance	1380043598	RCV001140020;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223082	44223082	2:g.44223082G>A	-
NM_133259.4(LRPPRC):c.-11A>G	10128	LRPPRC	Benign	188424940	RCV000126657\|RCV000388653;	N	MedGen:CN169374\|MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223097	44223097	2:g.44223097T>C	ClinGen:CA291978	C0023264 256000 Leigh syndrome;
NM_133259.4(LRPPRC):c.-19C>G	10128	LRPPRC	Uncertain significance	574328970	RCV000294384;	N	MONDO:MONDO:0009069,MedGen:C1857355,OMIM:220111, Orphanet:70472	2	44223105	44223105	NC_000002.11:g.44223105G>C	ClinGen:CA1639486	C0023264 256000 Leigh syndrome;