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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Cysts (D003560)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
Child Nodes:
........MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
..LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
..LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
..LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
..Leukodystrophy, Metachromatic (D007966) 5
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Megalencephaly with Dysmyelination (C565408)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7548

Name:

Megalencephalic leukoencephalopathy with subcortical cysts

Definition:

Alternative IDs:

DO:DOID:0080315|OMIM:604004|OMIM:613925

ParentIDs:

MESH:D003560|MESH:D020279

TreeNumbers:

C04.182/C536141 |C10.228.140.163.100.362/C536141 |C10.228.140.695.625/C536141 |C10.314.400/C536141 |C10.574.500.490/C536141 |C16.320.400.367/C536141 |C16.320.565.189.362/C536141 |C18.452.132.100.362/C536141 |C18.452.648.189.362/C536141 |C23.300.306/C536141

Synonyms:

Infantile Leukoencephalopathy and Megalencephaly |Leukoencephalopathy with Swelling and A Discrepantly Mild Course |Leukoencephalopathy with swelling and cysts |LVM |MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 |MEGALENCEPHALIC LEUKOENCEPHALOP

Slim Mappings:

Cancer|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C536141
MeSH: C536141
OMIM: 604004;
MSeqDR :
Genes: HEPACAM; MLC1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0006943	Diffuse spongiform leukoencephalopathy
5	HP:0007341	Diffuse swelling of cerebral white matter
6	HP:0001256	Intellectual disability, mild
7	HP:0000256	Macrocephaly
8	HP:0001355	Megalencephaly
9	HP:0001270	Motor delay
10	HP:0001250	Seizures NAMDC: Seizures
11	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)	220296	HEPACAM	Uncertain significance	770477104	RCV000512664\|RCV001196308\|RCV002502591\|RCV003362787;	N	MedGen:C3661900\|MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926,Orp	11	124791087	124791087	11:g.124791087C>T	ClinGen:CA6345541	CN517202 not provided;
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=)	220296	HEPACAM	Likely benign	780208452	RCV002111240\|RCV002494181;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478	11	124791223	124791223	124791223	-
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)	220296	HEPACAM	Uncertain significance	746134081	RCV000503439\|RCV000763712\|RCV002524199\|RCV002524198;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	11	124793720	124793720	NC_000011.9:g.124793720G>A	ClinGen:CA6345706	CN169374 not specified;
NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys)	220296	HEPACAM	Uncertain significance	146398351	RCV002014034\|RCV002486689;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478	11	124793850	124793850	124793850	-
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)	220296	HEPACAM	Likely pathogenic	1565339091	RCV000722141;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	11	124794692	124794692	NC_000011.9:g.124794692T>C	-
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)	220296	HEPACAM	Benign/Likely benign	35466065	RCV000302081\|RCV000963948\|RCV002502202;	N	MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478; MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478	11	124794793	124794793	NC_000011.9:g.124794793C>T	ClinGen:CA6345781	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp)	220296	HEPACAM	Uncertain significance	768471108	RCV001546576\|RCV002488367;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478; MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478	11	124794834	124794834	124794834	-
NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp)	220296	HEPACAM	Uncertain significance	768700664	RCV001964487\|RCV002503430;	N	MedGen:C3661900\|MONDO:MONDO:0013490,MedGen:C3151355,OMIM:613925, Orphanet:2478; MONDO:MONDO:0013491,MedGen:C3151356,OMIM:613926, Orphanet:2478; MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	11	124794955	124794955	124794955	-
NM_015166.4(MLC1):c.*2167G>A	23209	MLC1	Uncertain significance	886057618	RCV000328553;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497845	50497845	NC_000022.10:g.50497845C>T	ClinGen:CA10654192	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*2163T>G	23209	MLC1	Uncertain significance	886057619	RCV000380878;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497849	50497849	NC_000022.10:g.50497849A>C	ClinGen:CA10645724	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*2075A>G	23209	MLC1	Uncertain significance	1215334314	RCV001147889;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497937	50497937	22:g.50497937T>C	-
NM_015166.4(MLC1):c.*2068C>G	23209	MLC1	Uncertain significance	952288689	RCV001147890;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497944	50497944	22:g.50497944G>C	-
NM_015166.4(MLC1):c.*2051G>A	23209	MLC1	Likely benign	540245725	RCV000288647;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497961	50497961	NC_000022.10:g.50497961C>T	ClinGen:CA10653644	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*2049G>A	23209	MLC1	Uncertain significance	372824215	RCV000341247;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50497963	50497963	NC_000022.10:g.50497963C>T	ClinGen:CA10645729	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1963C>G	23209	MLC1	Benign	41283487	RCV000282846;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498049	50498049	NC_000022.10:g.50498049G>C	ClinGen:CA10651492	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1951A>G	23209	MLC1	Uncertain significance	2061524291	RCV001149428;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498061	50498061	22:g.50498061T>C	-
NM_015166.4(MLC1):c.*1934G>A	23209	MLC1	Uncertain significance	903750326	RCV001149429;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498078	50498078	22:g.50498078C>T	-
NM_015166.4(MLC1):c.*1874G>A	23209	MLC1	Uncertain significance	552491568	RCV001149430;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498138	50498138	22:g.50498138C>T	-
NM_015166.4(MLC1):c.*1836G>A	23209	MLC1	Benign	11703598	RCV000341072;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498176	50498176	NC_000022.10:g.50498176C>T	ClinGen:CA10645730	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1787G>A	23209	MLC1	Uncertain significance	992340649	RCV001149431;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498225	50498225	22:g.50498225C>T	-
NM_015166.4(MLC1):c.*1781C>T	23209	MLC1	Uncertain significance	551218638	RCV001149432;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498231	50498231	22:g.50498231G>A	-
NM_015166.4(MLC1):c.*1773G>C	23209	MLC1	Benign	80312581	RCV000404746\|RCV003430872;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50498239	50498239	NC_000022.10:g.50498239C>G	ClinGen:CA10645731	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1764G>T	23209	MLC1	Benign	41283489	RCV000301288;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498248	50498248	NC_000022.10:g.50498248C>A	ClinGen:CA10645733	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1689T>G	23209	MLC1	Likely benign	188855026	RCV001145139;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498323	50498323	22:g.50498323A>C	-
NM_015166.4(MLC1):c.*1623G>T	23209	MLC1	Benign	35730155	RCV000335142;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498389	50498389	NC_000022.10:g.50498389C>A	ClinGen:CA10654193	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1499C>T	23209	MLC1	Likely benign	144067372	RCV000405621\|RCV003311772;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50498513	50498513	NC_000022.10:g.50498513G>A	ClinGen:CA10651493	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1493A>G	23209	MLC1	Uncertain significance	886057620	RCV000314405;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498519	50498519	NC_000022.10:g.50498519T>C	ClinGen:CA10653645	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1398A>G	23209	MLC1	Uncertain significance	1185528208	RCV001145140;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498614	50498614	22:g.50498614T>C	-
NM_015166.4(MLC1):c.*1334G>A	23209	MLC1	Benign	2294382	RCV000274446;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498678	50498678	NC_000022.10:g.50498678C>T	ClinGen:CA10651495	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1321A>G	23209	MLC1	Benign	149073568	RCV001147105;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498691	50498691	22:g.50498691T>C	-
NM_015166.4(MLC1):c.*1306G>A	23209	MLC1	Uncertain significance	575620990	RCV000312709;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498706	50498706	NC_000022.10:g.50498706C>T	ClinGen:CA10645736	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1273C>A	23209	MLC1	Uncertain significance	1013861019	RCV001147106;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498739	50498739	22:g.50498739G>T	-
NM_015166.4(MLC1):c.*1199G>T	23209	MLC1	Uncertain significance	750057200	RCV001147107;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498813	50498813	22:g.50498813C>A	-
NM_015166.4(MLC1):c.*1143C>T	23209	MLC1	Benign	2294384	RCV000365023;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498869	50498869	NC_000022.10:g.50498869G>A	ClinGen:CA10645738	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1127C>T	23209	MLC1	Benign	9628320	RCV000272847;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498885	50498885	NC_000022.10:g.50498885G>A	ClinGen:CA10654195	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*1115G>C	23209	MLC1	Uncertain significance	909268509	RCV001147108;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50498897	50498897	22:g.50498897C>G	-
NM_015166.4(MLC1):c.*996T>C	23209	MLC1	Uncertain significance	1386718894	RCV001147109;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499016	50499016	22:g.50499016A>G	-
NM_015166.4(MLC1):c.*991T>G	23209	MLC1	Benign	11704648	RCV000325587;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499021	50499021	NC_000022.10:g.50499021A>C	ClinGen:CA10645744	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*970G>C	23209	MLC1	Benign	117474715	RCV000382588;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499042	50499042	NC_000022.10:g.50499042C>G	ClinGen:CA10651497	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*964G>C	23209	MLC1	Uncertain significance	1009356347	RCV001147987;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499048	50499048	22:g.50499048C>G	-
NM_015166.4(MLC1):c.*937C>T	23209	MLC1	Benign	41283491	RCV000267260;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499075	50499075	NC_000022.10:g.50499075G>A	ClinGen:CA10654196	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*886T>C	23209	MLC1	Uncertain significance	534183690	RCV001147988;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499126	50499126	22:g.50499126A>G	-
NM_015166.4(MLC1):c.*880C>G	23209	MLC1	Uncertain significance	983942994	RCV001147989;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499132	50499132	22:g.50499132G>C	-
NM_015166.4(MLC1):c.*863T>G	23209	MLC1	Uncertain significance	1601954641	RCV001147990;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499149	50499149	22:g.50499149A>C	-
NM_015166.4(MLC1):c.*860A>C	23209	MLC1	Likely benign	41283492	RCV001147991;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499152	50499152	22:g.50499152T>G	-
NM_015166.4(MLC1):c.*829C>T	23209	MLC1	Uncertain significance	949363571	RCV001149539;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499183	50499183	22:g.50499183G>A	-
NM_015166.4(MLC1):c.*827G>C	23209	MLC1	Uncertain significance	2061545213	RCV001149540;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499185	50499185	22:g.50499185C>G	-
NM_015166.4(MLC1):c.*824A>G	23209	MLC1	Uncertain significance	4838879	RCV000324687;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499188	50499188	NC_000022.10:g.50499188T>C	ClinGen:CA10654197	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*806C>A	23209	MLC1	Uncertain significance	886057621	RCV000376918;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499206	50499206	NC_000022.10:g.50499206G>T	ClinGen:CA10654198	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*788G>A	23209	MLC1	Uncertain significance	886057622	RCV000280594;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499224	50499224	NC_000022.10:g.50499224C>T	ClinGen:CA10653648	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*773G>A	23209	MLC1	Benign	4838880	RCV000319349;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499239	50499239	NC_000022.10:g.50499239C>T	ClinGen:CA10651499	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*730G>A	23209	MLC1	Uncertain significance	528927093	RCV001149541;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499282	50499282	22:g.50499282C>T	-
NM_015166.4(MLC1):c.*717C>T	23209	MLC1	Uncertain significance	1162468737	RCV001149542;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499295	50499295	22:g.50499295G>A	-
NM_015166.4(MLC1):c.*713C>T	23209	MLC1	Uncertain significance	1028022150	RCV001145242;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499299	50499299	22:g.50499299G>A	-
NM_015166.4(MLC1):c.*661G>C	23209	MLC1	Benign	376823805	RCV001145243;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499351	50499351	22:g.50499351C>G	-
NM_015166.4(MLC1):c.*660C>T	23209	MLC1	Likely benign	139148001	RCV001145244;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499352	50499352	22:g.50499352G>A	-
NM_015166.4(MLC1):c.*627G>A	23209	MLC1	Uncertain significance	886057623	RCV000371558;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499385	50499385	NC_000022.10:g.50499385C>T	ClinGen:CA10651501	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*607C>T	23209	MLC1	Uncertain significance	886057624	RCV000279437;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499405	50499405	NC_000022.10:g.50499405G>A	ClinGen:CA10653650	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*601C>A	23209	MLC1	Uncertain significance	2061549471	RCV001145245;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499411	50499411	22:g.50499411G>T	-
NM_015166.4(MLC1):c.*580G>A	23209	MLC1	Uncertain significance	527883161	RCV001145246;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499432	50499432	22:g.50499432C>T	-
NM_015166.4(MLC1):c.*572C>T	23209	MLC1	Benign	367816647	RCV001145247;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499440	50499440	22:g.50499440G>A	-
NM_015166.4(MLC1):c.*549G>A	23209	MLC1	Uncertain significance	538718275	RCV001147205;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499463	50499463	22:g.50499463C>T	-
NM_015166.4(MLC1):c.*533T>C	23209	MLC1	Uncertain significance	116535312	RCV000350623;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499479	50499479	NC_000022.10:g.50499479A>G	ClinGen:CA10651503	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*461G>C	23209	MLC1	Uncertain significance	769075736	RCV001147206;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499551	50499551	22:g.50499551C>G	-
NM_015166.4(MLC1):c.*451T>G	23209	MLC1	Uncertain significance	2061552087	RCV001147207;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499561	50499561	22:g.50499561A>C	-
NM_015166.4(MLC1):c.*431C>T	23209	MLC1	Likely benign	114598884	RCV000390613;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499581	50499581	NC_000022.10:g.50499581G>A	ClinGen:CA10645745	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*430A>G	23209	MLC1	Uncertain significance	41283494	RCV000292206;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499582	50499582	NC_000022.10:g.50499582T>C	ClinGen:CA10654199	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*414C>T	23209	MLC1	Likely benign	12484303	RCV000349506;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499598	50499598	NC_000022.10:g.50499598G>A	ClinGen:CA10653653	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*339C>T	23209	MLC1	Benign	115770001	RCV000310122;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499673	50499673	NC_000022.10:g.50499673G>A	ClinGen:CA10651507	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*337C>T	23209	MLC1	Uncertain significance	769484521	RCV001148094;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499675	50499675	22:g.50499675G>A	-
NM_015166.4(MLC1):c.*267G>A	23209	MLC1	Uncertain significance	1021399359	RCV001148095;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499745	50499745	22:g.50499745C>T	-
NM_015166.4(MLC1):c.*215C>T	23209	MLC1	Likely benign	148160537	RCV001148096;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499797	50499797	22:g.50499797G>A	-
NM_015166.4(MLC1):c.*203A>G	23209	MLC1	Uncertain significance	2061556620	RCV001148097;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499809	50499809	22:g.50499809T>C	-
NM_015166.4(MLC1):c.*55C>T	23209	MLC1	Benign	41283496	RCV001148098;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499957	50499957	22:g.50499957G>A	-
NM_015166.4(MLC1):c.*48A>G	23209	MLC1	Benign	137919	RCV000246160\|RCV000362458\|RCV001689933;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50499964	50499964	NC_000022.10:g.50499964T>C	ClinGen:CA10303177	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*45A>G	23209	MLC1	Benign	2072873	RCV000252122\|RCV000394298\|RCV001534966;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50499967	50499967	22:g.50499967T>C	ClinGen:CA10303179	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.*18C>T	23209	MLC1	Uncertain significance	111797969	RCV001148099;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50499994	50499994	22:g.50499994G>A	-
NM_015166.4(MLC1):c.*12G>A	23209	MLC1	Benign	142027672	RCV001149652;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500000	50500000	22:g.50500000C>T	-
NM_015166.4(MLC1):c.*9C>T	23209	MLC1	Uncertain significance	542817231	RCV000304427;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500003	50500003	NC_000022.10:g.50500003G>A	ClinGen:CA10303189	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)	23209	MLC1	Likely pathogenic	1555962581	RCV000667614;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500014	50500014	NC_000022.10:g.50500014A>G	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1132T>A (p.Ter378Arg)	23209	MLC1	Uncertain significance	1555962581	RCV000668617;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500014	50500014	NC_000022.10:g.50500014A>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1113C>T (p.Val371=)	23209	MLC1	Conflicting interpretations of pathogenicity	1269494985	RCV000943588\|RCV001149653;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500033	50500033	22:g.50500033G>A	-
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile)	23209	MLC1	Uncertain significance	200273593	RCV000734022\|RCV001578763;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500035	50500035	NC_000022.10:g.50500035C>T	-
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn)	23209	MLC1	Uncertain significance	779971307	RCV000626105\|RCV002529775\|RCV002529774;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	22	50500059	50500059	NC_000022.10:g.50500059C>T	ClinGen:CA10303201	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1076del (p.Leu359fs)	23209	MLC1	Uncertain significance	1372842345	RCV000674544;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500070	50500070	NC_000022.10:g.50500070del	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1065del (p.Arg356fs)	23209	MLC1	Uncertain significance	1555962643	RCV000667527;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50500081	50500081	NC_000022.10:g.50500082del	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1060-9C>T	23209	MLC1	Conflicting interpretations of pathogenicity	569220214	RCV001149654\|RCV001425314;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50500095	50500095	22:g.50500095G>A	-
NM_015166.4(MLC1):c.1059+27A>G	23209	MLC1	Benign	114282486	RCV001720746\|RCV001776304;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502436	50502436	50502436	-
NM_015166.4(MLC1):c.1059+20A>T	23209	MLC1	Likely benign	746438468	RCV001775523\|RCV002077212;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502443	50502443	50502443	-
NM_015166.4(MLC1):c.1059+16G>A	23209	MLC1	Benign	5771338	RCV001513422\|RCV001776240;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502447	50502447	50502447	-
NM_015166.4(MLC1):c.1059+13C>T	23209	MLC1	Likely benign	775704952	RCV001775524\|RCV002541094;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502450	50502450	50502450	-
NM_015166.4(MLC1):c.1059+1G>A	23209	MLC1	Likely pathogenic	1555963392	RCV000674690;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502462	50502462	NC_000022.10:g.50502462C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.1059+1G>T	23209	MLC1	Likely pathogenic	-1	RCV003476496;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502462	50502462		-
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)	23209	MLC1	Benign/Likely benign	11568190	RCV000117623\|RCV000361513\|RCV000929782\|RCV001274270;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502469	50502469	22:g.50502469A>G	ClinGen:CA153700	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGly	23209	MLC1	Benign/Likely benign	745656804	RCV000949112\|RCV000990462\|RCV001274269;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502469	50502470	22:g.50502469_50502470insGCACCCCCACCCCACAGGCCACTCACCTCCCCG	-
NM_015166.4(MLC1):c.1050G>T (p.Leu350=)	23209	MLC1	Uncertain significance	1221726228	RCV001149655;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502472	50502472	22:g.50502472C>A	-
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)	23209	MLC1	Conflicting interpretations of pathogenicity	199707637	RCV000264493\|RCV000940962\|RCV001828339;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502490	50502490	NC_000022.10:g.50502490G>A	ClinGen:CA10303268	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser)	23209	MLC1	Benign	11568188	RCV000020711\|RCV000117622\|RCV001510889\|RCV001831591;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502491	50502491	22:g.50502491T>C	ClinGen:CA153698,UniProtKB:Q15049#VAR_051187	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.1008G>T (p.Gln336His)	23209	MLC1	Uncertain significance	139336504	RCV000660578\|RCV002532018;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502514	50502514	NC_000022.10:g.50502514C>A	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.996T>C (p.Ser332=)	23209	MLC1	Benign	11568187	RCV000117629\|RCV000355808\|RCV001510890\|RCV001826788;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502526	50502526	22:g.50502526A>G	ClinGen:CA153711	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.983G>A (p.Arg328His)	23209	MLC1	Uncertain significance	145376667	RCV000671821\|RCV002532116\|RCV002532117;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	22	50502539	50502539	NC_000022.10:g.50502539C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.978C>T (p.Cys326=)	23209	MLC1	Benign	11568186	RCV000117628\|RCV000263376\|RCV001510891\|RCV001831908;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502544	50502544	22:g.50502544G>A	ClinGen:CA153709	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)	23209	MLC1	Pathogenic/Likely pathogenic	1057516465	RCV000409034\|RCV001861366;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502549	50502549	NC_000022.10:g.50502549G>A	ClinGen:CA16042025	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	23209	MLC1	Likely pathogenic	281875313	RCV000059749\|RCV000411937;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502563	50502563	NC_000022.10:g.50502563G>T	ClinGen:CA219970,UniProtKB:Q15049#VAR_067768,UniProtKB/Swiss-Prot:VAR_067768	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)	23209	MLC1	Likely pathogenic	-1	RCV003476503;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502570	50502573		-
NM_015166.4(MLC1):c.932T>A (p.Val311Glu)	23209	MLC1	Benign/Likely benign	141225099	RCV000243620\|RCV000948140\|RCV001145343;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502590	50502590	22:g.50502590A>T	ClinGen:CA10303291	CN169374 not specified;
NM_015166.4(MLC1):c.909GCT[10] (p.Leu308_Leu310dup)	23209	MLC1	Uncertain significance	761096481	RCV000666466\|RCV002532052;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502592	50502593	NC_000022.10:g.50502594GCA[10]	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)	23209	MLC1	Uncertain significance	761096481	RCV000670703\|RCV002531259;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502592	50502593	NC_000022.10:g.50502594GCA[8]	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.925C>A (p.Leu309Met)	23209	MLC1	not provided	80358240	RCV000020716;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502597	50502597	NC_000022.10:g.50502597G>T	ClinGen:CA342174,UniProtKB:Q15049#VAR_012731	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.923T>A (p.Leu308Gln)	23209	MLC1	Uncertain significance	540358165	RCV000670702;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502599	50502599	NC_000022.10:g.50502599A>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	23209	MLC1	Pathogenic	2146772952	RCV002279181\|RCV003101602;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MeSH:D030342,MedGen:C0950123	22	50502604	50502614	50502604	-
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)	23209	MLC1	Uncertain significance	768711345	RCV000984496\|RCV002550584;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MeSH:D030342,MedGen:C0950123	22	50502605	50502605	22:g.50502605A>T	-
NM_015166.4(MLC1):c.908_914del (p.Val303fs)	23209	MLC1	Pathogenic	2146773018	RCV002283546;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502608	50502614	50502607	-
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)	23209	MLC1	Likely pathogenic	764754702	RCV000667290;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502619	50502619	NC_000022.10:g.50502619G>C	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.895-1G>C	23209	MLC1	Likely pathogenic	755271052	RCV000410606;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502628	50502628	NC_000022.10:g.50502628C>G	ClinGen:CA16042026	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.895-2A>G	23209	MLC1	Pathogenic	1183818307	RCV000004981;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502629	50502629	NC_000022.10:g.50502629T>C	OMIM:605908.0004	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.895-9C>T	23209	MLC1	Benign	11568185	RCV000117627\|RCV000316264\|RCV001510892\|RCV001826787;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50502636	50502636	22:g.50502636G>A	ClinGen:CA153708	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.895-23C>T	23209	MLC1	Benign	11568184	RCV000246593\|RCV001594921\|RCV001527174;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50502650	50502650	22:g.50502650G>A	ClinGen:CA10303314	CN169374 not specified;
NM_015166.4(MLC1):c.895-139G>A	23209	MLC1	Benign	11568183	RCV001527175\|RCV001725223;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50502766	50502766	50502766	-
NM_015166.4(MLC1):c.894+199C>T	23209	MLC1	Benign	5771142	RCV001527176\|RCV001720298;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506663	50506663	50506663	-
NM_015166.4(MLC1):c.894+194G>A	23209	MLC1	Benign	2076127	RCV001527177\|RCV001685423;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506668	50506668	50506668	-
NM_015166.4(MLC1):c.894+128C>T	23209	MLC1	Likely benign	11568181	RCV001527178;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506734	50506734	50506734	-
NM_015166.4(MLC1):c.894+52T>C	23209	MLC1	Benign	5771349	RCV001527179\|RCV001647351;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506810	50506810	50506810	-
NM_015166.4(MLC1):c.894+2T>G	23209	MLC1	Uncertain significance	1569244131	RCV000778669;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506860	50506860	NC_000022.10:g.50506860A>C	-
NM_015166.4(MLC1):c.894+1G>A	23209	MLC1	Likely pathogenic	-1	RCV003476497;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506861	50506861		-
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)	23209	MLC1	Likely pathogenic	-1	RCV002309875;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506864	50506864	50506864	-
NM_015166.4(MLC1):c.882G>A (p.Pro294=)	23209	MLC1	Likely benign	200163312	RCV000975586\|RCV001272310\|RCV002489431;	N	MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506874	50506874	22:g.50506874C>T	-
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	23209	MLC1	Pathogenic/Likely pathogenic	1050220787	RCV001942293\|RCV002307813\|RCV003475224;	N	MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506875	50506875	50506875	-
NM_015166.4(MLC1):c.879C>T (p.Tyr293=)	23209	MLC1	Conflicting interpretations of pathogenicity	1569244149	RCV001145344\|RCV001492158;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506877	50506877	22:g.50506877G>A	-
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)	23209	MLC1	Pathogenic/Likely pathogenic	-1	RCV003147247;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506907	50506907	NC_000022.10:g.50506907del	-
NM_015166.4(MLC1):c.848del (p.Ile283fs)	23209	MLC1	Likely pathogenic	-1	RCV002309150;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506908	50506908	50506907	-
NM_015166.4(MLC1):c.838_843delinsATTTTA (p.Ser280_Phe281delinsIleLeu)	23209	MLC1	Uncertain significance	-1	RCV003313020;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506913	50506918		-
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)	23209	MLC1	Uncertain significance	121908341	RCV000004978;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506917	50506917	NC_000022.10:g.50506917G>A	ClinGen:CA253250,UniProtKB:Q15049#VAR_011702,OMIM:605908.0001	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)	23209	MLC1	Likely pathogenic	121908341	RCV001263680;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506917	50506917	22:g.50506917G>T	-
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)	23209	MLC1	Uncertain significance	1569244190	RCV000768440;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506923	50506923	NC_000022.10:g.50506923T>C	-
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	23209	MLC1	Pathogenic/Likely pathogenic	764669598	RCV000669743\|RCV001855527;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506932	50506932	NC_000022.10:g.50506932G>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.821C>T (p.Thr274Ile)	23209	MLC1	Uncertain significance	1227088497	RCV000672886;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506935	50506935	NC_000022.10:g.50506935G>A	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.819C>G (p.Phe273Leu)	23209	MLC1	Uncertain significance	2061767679	RCV001090092;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506937	50506937	22:g.50506937G>C	-
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)	23209	MLC1	Likely pathogenic	-1	RCV003476494;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506953	50506953		-
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)	23209	MLC1	Likely pathogenic	777790290	RCV003227569;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506958	50506958		-
NM_015166.4(MLC1):c.791dup (p.Ser265fs)	23209	MLC1	Likely pathogenic	-1	RCV003476500;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506964	50506965		-
NM_015166.4(MLC1):c.772-1G>C	23209	MLC1	Pathogenic	-1	RCV003476506;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50506985	50506985		-
NM_015166.4(MLC1):c.772-15G>A	23209	MLC1	Conflicting interpretations of pathogenicity	374916974	RCV001145345\|RCV002070756;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50506999	50506999	22:g.50506999C>T	-
NM_015166.4(MLC1):c.772-35C>T	23209	MLC1	Benign	11568179	RCV000243236\|RCV001527180\|RCV001683134;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50507019	50507019	22:g.50507019G>A	ClinGen:CA10303376	CN169374 not specified;
NM_015166.4(MLC1):c.772-80C>G	23209	MLC1	Benign	75474964	RCV001527181\|RCV001673110;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50507064	50507064	50507064	-
NM_015166.4(MLC1):c.772-110A>G	23209	MLC1	Benign	111258391	RCV001527182\|RCV001615222;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50507094	50507094	50507094	-
NM_015166.4(MLC1):c.771+175T>C	23209	MLC1	Benign	2076132	RCV001527223\|RCV001647352;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50508781	50508781	50508781	-
NM_015166.4(MLC1):c.771+160T>C	23209	MLC1	Benign	2076133	RCV001527224\|RCV001685425;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50508796	50508796	50508796	-
NM_015166.4(MLC1):c.771+158G>A	23209	MLC1	Benign	35480507	RCV001527225\|RCV001540584;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50508798	50508798	50508798	-
NM_015166.4(MLC1):c.771+61T>C	23209	MLC1	Benign	2076134	RCV001527226\|RCV001685426;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50508895	50508895	50508895	-
NM_015166.4(MLC1):c.771+59C>A	23209	MLC1	Benign	2076135	RCV001527227\|RCV001615223;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50508897	50508897	50508897	-
NM_015166.4(MLC1):c.771+2dup	23209	MLC1	Uncertain significance	1555965439	RCV000664844;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50508953	50508954	NC_000022.10:g.50508954dup	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.759del (p.Ser254fs)	23209	MLC1	Likely pathogenic	-1	RCV003476495;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50508968	50508968		-
NM_015166.4(MLC1):c.754dup (p.Cys252fs)	23209	MLC1	Pathogenic	757250956	RCV001219156\|RCV001780141;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50508972	50508973	22:g.50508972_50508973insA	-
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)	23209	MLC1	Likely pathogenic	-1	RCV003476492;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50508974	50508975		-
NM_015166.4(MLC1):c.736del (p.Ser246fs)	23209	MLC1	Pathogenic	2146830385	RCV002254417;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50508991	50508991	50508990	-
NM_015166.4(MLC1):c.715-5C>A	23209	MLC1	Conflicting interpretations of pathogenicity	751850836	RCV000671762\|RCV001456100\|RCV001833466;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50509017	50509017	NC_000022.10:g.50509017G>T	ClinGen:CA10303389	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.714+28G>A	23209	MLC1	Benign	2038048	RCV000247082\|RCV001527228\|RCV001683133;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50512617	50512617	22:g.50512617C>T	ClinGen:CA10303402	CN169374 not specified;
NM_015166.4(MLC1):c.714+5G>A	23209	MLC1	Uncertain significance	-1	RCV002470650;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512640	50512640	NC_000022.10:g.50512640C>T	-
NM_015166.4(MLC1):c.714+1G>A	23209	MLC1	Pathogenic/Likely pathogenic	761620701	RCV000169359\|RCV001850397;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50512644	50512644	NC_000022.10:g.50512644C>T	ClinGen:CA274211	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)	23209	MLC1	Likely pathogenic	-1	RCV002309793;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512675	50512676	50512675	-
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)	23209	MLC1	Benign/Likely benign	41302601	RCV000020715\|RCV000487552\|RCV000734024\|RCV001831592;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50512705	50512705	22:g.50512705G>T	ClinGen:CA342172	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.639dup (p.Ile214fs)	23209	MLC1	Pathogenic/Likely pathogenic	1449444164	RCV001822161\|RCV003475101;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512719	50512720	50512719	-
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	23209	MLC1	Pathogenic/Likely pathogenic	281875317	RCV000059746\|RCV000412227\|RCV003235028;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50512725	50512725	NC_000022.10:g.50512725C>T	ClinGen:CA219967,UniProtKB:Q15049#VAR_011701,UniProtKB/Swiss-Prot:VAR_011701	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	23209	MLC1	Likely pathogenic	281875317	RCV000668812;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512725	50512725	NC_000022.10:g.50512725C>G	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	23209	MLC1	Conflicting interpretations of pathogenicity	11568178	RCV000665829\|RCV000730237\|RCV000914569\|RCV001272312;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50512731	50512731	22:g.50512731C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	23209	MLC1	Conflicting interpretations of pathogenicity	138153307	RCV000329979\|RCV001272313\|RCV000914796;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MedGen:C3661900	22	50512732	50512732	NC_000022.10:g.50512732G>A	ClinGen:CA10303434	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.626C>A (p.Ala209Asp)	23209	MLC1	Uncertain significance	-1	RCV002283818;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512733	50512733	50512733	-
NM_015166.4(MLC1):c.624_625del (p.Ala209fs)	23209	MLC1	Likely pathogenic	1057517375	RCV000410276;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512734	50512735	NC_000022.10:g.50512734_50512735del	ClinGen:CA16042027	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.617G>T (p.Gly206Val)	23209	MLC1	Pathogenic	1114167286	RCV000491615;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50512742	50512742	NC_000022.10:g.50512742C>A	ClinGen:CA412109375	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.597+1G>A	23209	MLC1	Pathogenic/Likely pathogenic	-1	RCV003064664\|RCV003475500;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515269	50515269	NC_000022.10:g.50515269C>T	-
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	23209	MLC1	Pathogenic	267607236	RCV000004985\|RCV001383177\|RCV001826417;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50515270	50515273	22:g.50515270_50515273del	ClinGen:CA253254,OMIM:605908.0008	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.597A>G (p.Ser199=)	23209	MLC1	Benign	6010164	RCV000117626\|RCV000389139\|RCV001510893\|RCV001826786;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50515270	50515270	22:g.50515270T>C	ClinGen:CA153706	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)	23209	MLC1	Likely pathogenic	-1	RCV002307178;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515271	50515271	50515271	-
NM_015166.4(MLC1):c.595T>C (p.Ser199Pro)	23209	MLC1	Uncertain significance	140676811	RCV001147294\|RCV002557154;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515272	50515272	22:g.50515272A>G	-
NM_015166.4(MLC1):c.594C>T (p.Tyr198=)	23209	MLC1	Benign	6010165	RCV000117625\|RCV000294810\|RCV001510894\|RCV001826785;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50515273	50515273	22:g.50515273G>A	ClinGen:CA153704	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.592del (p.Tyr198fs)	23209	MLC1	Likely pathogenic	-1	RCV002309430;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515275	50515275	50515274	-
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp)	23209	MLC1	Uncertain significance	148532625	RCV000344988\|RCV002520065;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515306	50515306	NC_000022.10:g.50515306T>G	ClinGen:CA10303468	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)	23209	MLC1	Likely pathogenic	761502278	RCV001263681;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515308	50515308	22:g.50515308C>A	-
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)	23209	MLC1	Benign/Likely benign	537457768	RCV000919477\|RCV001272315\|RCV001578761;	N	MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515323	50515323	22:g.50515323C>T	-
NM_015166.4(MLC1):c.526-2A>G	23209	MLC1	Likely pathogenic	-1	RCV003476499;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515343	50515343		-
NM_015166.4(MLC1):c.526-118C>T	23209	MLC1	Benign	4838882	RCV001527229\|RCV001720299;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515459	50515459	50515459	-
NM_015166.4(MLC1):c.525+153G>A	23209	MLC1	Benign	6010166	RCV001527230\|RCV001655797;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515677	50515677	50515677	-
NM_015166.4(MLC1):c.525+64G>A	23209	MLC1	Benign	2076137	RCV001512981\|RCV001527231;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515766	50515766	50515766	-
NM_015166.4(MLC1):c.525+22G>A	23209	MLC1	Benign	2072874	RCV000249409\|RCV001527232\|RCV001722329;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515808	50515808	22:g.50515808C>T	ClinGen:CA10303507	CN169374 not specified;
NM_015166.4(MLC1):c.525+1G>A	23209	MLC1	Pathogenic/Likely pathogenic	769135961	RCV000410268\|RCV001821135;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515829	50515829	NC_000022.10:g.50515829C>T	ClinGen:CA10303515	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)	23209	MLC1	Likely pathogenic	-1	RCV003476491;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515831	50515834		-
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)	23209	MLC1	Likely pathogenic	766461175	RCV001263682;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515838	50515838	22:g.50515838T>A	-
NM_015166.4(MLC1):c.512G>T (p.Cys171Phe)	23209	MLC1	Benign	6010260	RCV000020714\|RCV000117624\|RCV001510895\|RCV001826487;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50515843	50515843	22:g.50515843C>A	ClinGen:CA153702,UniProtKB:Q15049#VAR_051186	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.493C>T (p.Arg165Trp)	23209	MLC1	Uncertain significance	-1	RCV003448848;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515862	50515862		-
NM_015166.4(MLC1):c.489dup (p.Ala164fs)	23209	MLC1	Likely pathogenic	-1	RCV003229535;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515865	50515866		-
NM_015166.4(MLC1):c.477G>A (p.Thr159=)	23209	MLC1	Conflicting interpretations of pathogenicity	374829012	RCV000943560\|RCV001148199\|RCV001272316;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50515878	50515878	22:g.50515878C>T	-
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)	23209	MLC1	Likely pathogenic	1219458189	RCV002274702\|RCV003475321;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515885	50515885	50515885	-
NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	23209	MLC1	Pathogenic	1057517090	RCV000412051\|RCV002523869;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50515900	50515906	NC_000022.10:g.50515900_50515906del	ClinGen:CA16042028,OMIM:605908.0003
NM_015166.4(MLC1):c.448del (p.Leu150fs)	23209	MLC1	Pathogenic	1555967227	RCV000672410;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50515907	50515907	NC_000022.10:g.50515907del	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.298_423+108del	23209	MLC1	not provided	1555967644	RCV000020713;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518239	50518796	NC_000022.10:g.50518239_50518796del	ClinGen:CA342171,dbVar:nssv3761554	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.423+2dup	23209	MLC1	Likely pathogenic	1555967668	RCV000674916;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518344	50518345	NC_000022.10:g.50518345dup	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.423+1G>A	23209	MLC1	Pathogenic/Likely pathogenic	752428321	RCV001063150\|RCV001196731;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518346	50518346	22:g.50518346C>T	-
NM_015166.4(MLC1):c.423+1G>T	23209	MLC1	Pathogenic/Likely pathogenic	752428321	RCV001379411\|RCV001831368\|RCV003473919;	N	MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518346	50518346	50518346	-
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys)	23209	MLC1	Pathogenic	121908343	RCV000004982;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518347	50518347	NC_000022.10:g.50518347G>T	ClinGen:CA253251,UniProtKB:Q15049#VAR_017440,OMIM:605908.0005	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser)	23209	MLC1	Pathogenic	121908344	RCV000004983;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518348	50518348	NC_000022.10:g.50518348T>C	ClinGen:CA253252,UniProtKB:Q15049#VAR_017441,OMIM:605908.0006	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)	23209	MLC1	Likely pathogenic	2062076867	RCV001263683;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518357	50518357	22:g.50518357G>T	-
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)	23209	MLC1	Likely pathogenic	2062077684	RCV001263684;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518377	50518377	22:g.50518377G>T	-
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)	23209	MLC1	Likely pathogenic	-1	RCV002306638;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518387	50518387	50518387	-
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)	23209	MLC1	Likely pathogenic	2062078281	RCV001263685;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518393	50518393	22:g.50518393A>T	-
NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)	23209	MLC1	Pathogenic	769089143	RCV001806385;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518402	50518402	50518402	-
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	23209	MLC1	Pathogenic/Likely pathogenic	281875316	RCV001062793\|RCV002497450;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518417	50518417	22:g.50518417G>A	-
NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs)	23209	MLC1	Pathogenic	2062079566	RCV001248532\|RCV002287898;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518417	50518433	22:g.50518418_50518433del	OMIM:605908.0012
NM_015166.4(MLC1):c.346_349del (p.Val116fs)	23209	MLC1	Likely pathogenic	-1	RCV003476504;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518421	50518424		-
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)	23209	MLC1	Likely pathogenic	1458824689	RCV001263686;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518429	50518429	22:g.50518429A>T	-
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)	23209	MLC1	Likely pathogenic	-1	RCV003476502;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518429	50518430		-
NM_015166.4(MLC1):c.329A>G (p.Asn110Ser)	23209	MLC1	Uncertain significance	766524233	RCV001925127\|RCV002503543;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518441	50518441	50518441	-
NM_015166.4(MLC1):c.324del (p.Asn110fs)	23209	MLC1	Pathogenic/Likely pathogenic	786204747	RCV000169597\|RCV001390442;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50518446	50518446	NC_000022.10:g.50518447del	ClinGen:CA274452	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.322-1G>T	23209	MLC1	Likely pathogenic	-1	RCV003476505;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518449	50518449		-
NM_015166.4(MLC1):c.321+50T>C	23209	MLC1	Benign	79301	RCV000254494\|RCV001527233\|RCV001618450;	N	MedGen:CN169374\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50518723	50518723	22:g.50518723A>G	ClinGen:CA10303600	CN169374 not specified;
NM_015166.4(MLC1):c.321+2T>G	23209	MLC1	Likely pathogenic	-1	RCV002751482\|RCV003475418;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518771	50518771	NC_000022.10:g.50518771A>C	-
NM_015166.4(MLC1):c.321+2T>C	23209	MLC1	Likely pathogenic	-1	RCV002890859\|RCV003475451;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518771	50518771	NC_000022.10:g.50518771A>G	-
NM_015166.4(MLC1):c.321+1G>T	23209	MLC1	Likely pathogenic	765879182	RCV000674600;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518772	50518772	NC_000022.10:g.50518772C>A	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.321+1G>A	23209	MLC1	Likely pathogenic	765879182	RCV000665173\|RCV002530647;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50518772	50518772	NC_000022.10:g.50518772C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.286G>T (p.Val96Leu)	23209	MLC1	Uncertain significance	2146908387	RCV001807931;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518808	50518808	50518808	-
NM_015166.4(MLC1):c.279G>A (p.Ser93=)	23209	MLC1	Benign/Likely benign	11568172	RCV000291216\|RCV000883479\|RCV001272317;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50518815	50518815	NC_000022.10:g.50518815C>T	ClinGen:CA10303619	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	23209	MLC1	Pathogenic/Likely pathogenic	80358245	RCV000004979\|RCV001380081\|RCV003155016;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50518816	50518816	NC_000022.10:g.50518816G>A	ClinGen:CA340283,UniProtKB:Q15049#VAR_011699,OMIM:605908.0002	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	23209	MLC1	Pathogenic/Likely pathogenic	121908345	RCV000004984\|RCV001378687\|RCV001844006;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50518820	50518820	NC_000022.10:g.50518820G>A	ClinGen:CA253253,UniProtKB:Q15049#VAR_017439,OMIM:605908.0007	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.271_272del (p.Ile91fs)	23209	MLC1	Likely pathogenic	1057516336	RCV000409108;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50518822	50518823	NC_000022.10:g.50518822_50518823del	ClinGen:CA16042029	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)	23209	MLC1	Likely pathogenic	-1	RCV003476498;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521517	50521517		-
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)	23209	MLC1	Uncertain significance	-1	RCV003229537;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521520	50521520		-
NM_015166.4(MLC1):c.256G>C (p.Ala86Pro)	23209	MLC1	Uncertain significance	2062186870	RCV001172536;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521524	50521524	22:g.50521524C>G	-
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)	23209	MLC1	Likely pathogenic	-1	RCV003476490;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521526	50521526		-
NM_015166.4(MLC1):c.251G>A (p.Arg84His)	23209	MLC1	Pathogenic/Likely pathogenic	1425784992	RCV001806844\|RCV001885261\|RCV003475099;	N	MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521529	50521529	50521529	-
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	23209	MLC1	Likely pathogenic	281875311	RCV000059743\|RCV001831812\|RCV003474653;	N	MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521530	50521530	NC_000022.10:g.50521530G>A	ClinGen:CA219964,UniProtKB:Q15049#VAR_067764,UniProtKB/Swiss-Prot:VAR_067764	CN517202 not provided;
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	23209	MLC1	Likely pathogenic	1289520784	RCV001506968\|RCV002564186\|RCV003317503;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50521531	50521531	50521531	-
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	23209	MLC1	Conflicting interpretations of pathogenicity	281875310	RCV000059742\|RCV001810419;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521540	50521540	NC_000022.10:g.50521540C>T	ClinGen:CA219963,UniProtKB:Q15049#VAR_067763,UniProtKB/Swiss-Prot:VAR_067763	CN517202 not provided;
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)	23209	MLC1	Uncertain significance	1378938503	RCV000669265\|RCV003155268;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:CN169374	22	50521545	50521545	NC_000022.10:g.50521545C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.230C>T (p.Pro77Leu)	23209	MLC1	Uncertain significance	145484765	RCV001336254\|RCV002546770;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50521550	50521550	50521550	-
NM_015166.4(MLC1):c.223del (p.Val75fs)	23209	MLC1	Pathogenic	794729233	RCV000184054;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521557	50521557	NC_000022.10:g.50521557del	ClinGen:CA275488	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.218G>A (p.Gly73Glu)	23209	MLC1	Pathogenic	1602063709	RCV000800745\|RCV003472364;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521562	50521562	22:g.50521562C>T	-
NM_015166.4(MLC1):c.216G>A (p.Leu72=)	23209	MLC1	Benign	78365284	RCV000245671\|RCV000882797\|RCV001148200\|RCV001274275;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50521564	50521564	22:g.50521564C>T	ClinGen:CA10303650	CN169374 not specified;
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	23209	MLC1	Pathogenic	281875309	RCV000024319\|RCV000059741\|RCV001826507;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50521574	50521574	NC_000022.10:g.50521574G>A	ClinGen:CA219962,UniProtKB:Q15049#VAR_067762,UniProtKB/Swiss-Prot:VAR_067762,OMIM:605908.0013	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)	23209	MLC1	Pathogenic	1436214826	RCV001258387;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521597	50521597	50521597	-
NM_015166.4(MLC1):c.178-2A>G	23209	MLC1	Likely pathogenic	-1	RCV003476501;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50521604	50521604		-
NM_015166.4(MLC1):c.178-10T>A	23209	MLC1	Pathogenic/Likely pathogenic	80358243	RCV000020712\|RCV000626926\|RCV002513148;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ontology:HP:0007050,Human Phenotype Ontology:HP:0007157,MONDO:MONDO	22	50521612	50521612	NC_000022.10:g.50521612A>T	ClinGen:CA342170	C0007758 Cerebellar ataxia;
NM_015166.4(MLC1):c.177+77G>A	23209	MLC1	Likely benign	55751312	RCV001527234;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523078	50523078	50523078	-
NM_015166.4(MLC1):c.177+15A>G	23209	MLC1	Benign/Likely benign	148099137	RCV000665035\|RCV002060809;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50523140	50523140	NC_000022.10:g.50523140T>C	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.177+5G>A	23209	MLC1	Uncertain significance	1555968723	RCV000663340;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523150	50523150	NC_000022.10:g.50523150C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.177+1del	23209	MLC1	Likely pathogenic	-1	RCV003476493;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523154	50523154		-
NM_015166.4(MLC1):c.177G>A (p.Gly59=)	23209	MLC1	Uncertain significance	2062237520	RCV001328861\|RCV002546281;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50523155	50523155	50523155	-
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	23209	MLC1	Pathogenic/Likely pathogenic	80358242	RCV000004986\|RCV000293896\|RCV001826418;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50523156	50523156	NC_000022.10:g.50523156C>T	ClinGen:CA340284,UniProtKB:Q15049#VAR_017438,OMIM:605908.0009	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.135dup (p.Cys46fs)	23209	MLC1	Pathogenic	80358241	RCV000004987\|RCV000599600\|RCV001274276;	Y	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50523196	50523197	NC_000022.10:g.50523202dup	ClinGen:CA340285,OMIM:605908.0011	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.136del (p.Cys46fs)	23209	MLC1	Pathogenic/Likely pathogenic	1057516766	RCV000410132\|RCV001380083\|RCV001833490;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50523196	50523196	NC_000022.10:g.50523196del	ClinGen:CA16042030	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	23209	MLC1	Conflicting interpretations of pathogenicity	200382943	RCV000671823\|RCV000938884\|RCV001830452;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478	22	50523237	50523237	NC_000022.10:g.50523237G>A	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter)	23209	MLC1	Likely pathogenic	1057516286	RCV000411151;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523248	50523249	NC_000022.10:g.50523249dup	ClinGen:CA16042031	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.74C>G (p.Pro25Arg)	23209	MLC1	Uncertain significance	886057625	RCV000666819;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523258	50523258	NC_000022.10:g.50523258G>C	ClinGen:CA10654200	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)	23209	MLC1	Likely pathogenic	1057517228	RCV000410294;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523265	50523265	NC_000022.10:g.50523265G>A	ClinGen:CA16042032	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)	23209	MLC1	Conflicting interpretations of pathogenicity	184241759	RCV000479932\|RCV000490481\|RCV001272318\|RCV002222445;	N	MedGen:C3661900\|MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MONDO:MONDO:0011391,MedGen:C1858854, Orphanet:2478\|MedGen:CN169374	22	50523267	50523267	NC_000022.10:g.50523267C>T	ClinGen:CA10303690	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.54G>A (p.Leu18=)	23209	MLC1	Uncertain significance	2146945150	RCV001578762;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523278	50523278	50523278	-
NM_015166.4(MLC1):c.42del (p.Met15fs)	23209	MLC1	Likely pathogenic	1555968785	RCV000667245;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523290	50523290	NC_000022.10:g.50523291del	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln)	23209	MLC1	Uncertain significance	1362564136	RCV001578764\|RCV001866085;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478\|MedGen:C3661900	22	50523291	50523291	50523291	-
NM_015166.4(MLC1):c.35A>C (p.Tyr12Ser)	23209	MLC1	Uncertain significance	142192701	RCV000301579;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523297	50523297	NC_000022.10:g.50523297T>G	ClinGen:CA10303700	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.-59-1G>C	23209	MLC1	Uncertain significance	1555968825	RCV000671219;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523391	50523391	NC_000022.10:g.50523391C>G	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1;
NM_015166.4(MLC1):c.-59-14T>A	23209	MLC1	Benign	141840641	RCV001148201;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523404	50523404	22:g.50523404A>T	-
NM_015166.4(MLC1):c.-100A>G	23209	MLC1	Uncertain significance	574287059	RCV000361028;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523824	50523824	NC_000022.10:g.50523824T>C	ClinGen:CA10654201	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.4(MLC1):c.-110G>A	23209	MLC1	Uncertain significance	886057626	RCV000398157;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523834	50523834	NC_000022.10:g.50523834C>T	ClinGen:CA10654202	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-156C>T	23209	MLC1	Benign	2076126	RCV000297856;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523880	50523880	NC_000022.10:g.50523880G>A	ClinGen:CA10654203	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-226A>G	23209	MLC1	Uncertain significance	776721363	RCV000262467;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50523950	50523950	NC_000022.10:g.50523950T>C	ClinGen:CA10645751	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-414G>A	23209	MLC1	Likely benign	543054100	RCV000331704;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524138	50524138	NC_000022.10:g.50524138C>T	ClinGen:CA10654204	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-455G>C	23209	MLC1	Uncertain significance	886057628	RCV000367872;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524179	50524179	NC_000022.10:g.50524179C>G	ClinGen:CA10654205	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-467G>A	23209	MLC1	Uncertain significance	117812810	RCV000277929;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524191	50524191	NC_000022.10:g.50524191C>T	ClinGen:CA10645752	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-487G>A	23209	MLC1	Uncertain significance	550844413	RCV001149757;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524211	50524211	22:g.50524211C>T	-
NM_015166.3(MLC1):c.-534G>A	23209	MLC1	Uncertain significance	867494339	RCV001149758;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524258	50524258	22:g.50524258C>T	-
NM_015166.3(MLC1):c.-540G>A	23209	MLC1	Uncertain significance	370947362	RCV000382939;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524264	50524264	NC_000022.10:g.50524264C>T	ClinGen:CA10653655	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-561G>A	23209	MLC1	Benign	4838883	RCV000269244;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524285	50524285	NC_000022.10:g.50524285C>T	ClinGen:CA10653656	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;
NM_015166.3(MLC1):c.-602G>C	23209	MLC1	Uncertain significance	886057629	RCV000329033;	N	MONDO:MONDO:0024555,MedGen:C5779875,OMIM:604004, Orphanet:2478	22	50524326	50524326	NC_000022.10:g.50524326C>G	ClinGen:CA10651519	CN176898 Megalencephalic leukoencephalopathy with subcortical cysts;

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