Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	SNV Germline	Chr22:50080387	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA340283	rs_80358245	7 SubmittersRCV000004979 RCV001380081 RCV003155016
NM_015166.4(MLC1):c.895-2A>G	SNV Germline	Chr22:50064200	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided		rs_1183818307	1 SubmittersRCV000004981
NM_015166.4(MLC1):c.423C>A (p.Asn141Lys)	SNV Germline	Chr22:50079918	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA253251	rs_121908343	1 SubmittersRCV000004982
NM_015166.4(MLC1):c.422A>G (p.Asn141Ser)	SNV Germline	Chr22:50079919	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA253252	rs_121908344	1 SubmittersRCV000004983
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	SNV Germline	Chr22:50080391	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253253	rs_121908345	10 SubmittersRCV000004984 RCV001844006 RCV001378687
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	SNV Germline	Chr22:50084727	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA340284	rs_80358242	9 SubmittersRCV000004986 RCV000293896 RCV001826418
NM_015166.4(MLC1):c.178-10T>A	SNV Germline	Chr22:50083183	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Macrocephaly CNS demyelination Cerebellar ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342170	rs_80358243	4 SubmittersRCV000020712 RCV000626926 RCV002513148
NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr)	SNV Germline	Chr11:124923851	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided	Criteria Provided Single Submitter	CA259944	rs_387907049	2 SubmittersRCV000023902 RCV001092301
NM_152722.5(HEPACAM):c.789G>A (p.Trp263Ter)	SNV Germline	Chr11:124923354	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A	No Assertion Criteria Provided			1 SubmittersRCV000023903
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)	SNV Germline	Chr11:124924880	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A	Criteria Provided Multiple Submitters No Conflicts	CA342765	rs_387907050	4 SubmittersRCV000023904
NM_152722.5(HEPACAM):c.631G>A (p.Asp211Asn)	SNV Germline	Chr11:124923807	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A	No Assertion Criteria Provided	CA259945	rs_387907051	1 SubmittersRCV000023905
NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys)	SNV Germline	Chr11:124924863	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A	No Assertion Criteria Provided	CA259946	rs_387907052	2 SubmittersRCV000023906
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)	SNV Germline	Chr11:124924890	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided HEPACAM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259947	rs_387907053	6 SubmittersRCV000023907 RCV000055996 RCV000390259 RCV003407358
NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp)	SNV Germline	Chr11:124924889	Likely pathogenic	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT Condition: not provided	Criteria Provided Single Submitter	CA129534	rs_387907054	2 SubmittersRCV002280810 RCV003314557
NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp)	SNV Germline	Chr11:124924881	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided	Criteria Provided Single Submitter	CA259948	rs_387907055	3 SubmittersRCV000023909 RCV000055997 RCV003556082
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	SNV Germline	Chr22:50083145	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA219962	rs_281875309	7 SubmittersRCV000024319 RCV000059741 RCV001826507
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	SNV Germline	Chr22:50083111	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications	CA219963	rs_281875310	5 SubmittersRCV000059742 RCV001810419
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	SNV Germline	Chr22:50083101	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA219964	rs_281875311	4 SubmittersRCV000059743 RCV001831812 RCV003474653
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	SNV Germline	Chr22:50074296	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA219967	rs_281875317	7 SubmittersRCV000059746 RCV000412227 RCV003235028
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	SNV Germline	Chr22:50064134	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA219970	rs_281875313	5 SubmittersRCV000059749 RCV000411937
NM_015166.4(MLC1):c.714+1G>A	SNV Germline	Chr22:50074215	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274211	rs_761620701	3 SubmittersRCV000169359 RCV001850397
NM_015166.4(MLC1):c.617G>T (p.Gly206Val)	SNV Germline	Chr22:50074313	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA412109375	rs_1114167286	1 SubmittersRCV000491615
NM_015166.4(MLC1):c.598-9C>T	SNV Germline	Chr22:50074341	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts MLC1-related disorder	Criteria Provided Conflicting Classifications	CA10303440	rs_200463656	4 SubmittersRCV000274877 RCV001272314 RCV003930098
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)	SNV Germline	Chr11:124922760	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6345625	rs_149782549	5 SubmittersRCV000288266 RCV000994750 RCV004021501
NM_152722.5(HEPACAM):c.472C>T (p.Leu158=)	SNV Germline	Chr11:124923966	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications	CA6345728	rs_781748998	2 SubmittersRCV000335539 RCV002520693
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)	SNV Germline	Chr11:124921317	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided not specified Intellectual disability HEPACAM-related disorder	Criteria Provided Conflicting Classifications	CA10638212	rs_536963649	7 SubmittersRCV000358121 RCV000994749 RCV001193311 RCV001252515 RCV003930281
NM_152722.5(HEPACAM):c.803+6G>A	SNV Germline	Chr11:124923334	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications	CA6345653	rs_544709540	2 SubmittersRCV000383269 RCV002056176
NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)	SNV Germline	Chr11:124923847	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6345709	rs_201011094	5 SubmittersRCV000294554 RCV000923638 RCV001820888
NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu)	SNV Germline	Chr11:124925068	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6345820	rs_148838622	3 SubmittersRCV000307943 RCV002520694 RCV003546508
NM_152722.4(HEPACAM):c.-67G>T	SNV Germline	Chr11:124936073	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications	CA10638227	rs_28372748	2 SubmittersRCV000385985 RCV001582935
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)	SNV Germline	Chr22:50064061	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Conflicting Classifications	CA10303268	rs_199707637	3 SubmittersRCV000264493 RCV000940962 RCV001828339
NM_015166.4(MLC1):c.715-5C>A	SNV Germline	Chr22:50070588	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Conflicting Classifications	CA10303389	rs_751850836	4 SubmittersRCV000671762 RCV001456100 RCV001833466
NM_015166.4(MLC1):c.627C>T (p.Ala209=)	SNV Germline	Chr22:50074303	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Conflicting Classifications	CA10303434	rs_138153307	5 SubmittersRCV000329979 RCV000914796 RCV001272313
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp)	SNV Germline	Chr22:50076877	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided MLC1-related disorder	Criteria Provided Conflicting Classifications	CA10303468	rs_148532625	3 SubmittersRCV000344988 RCV002520065 RCV003912442
NM_015166.4(MLC1):c.772-13G>A	SNV Germline	Chr22:50068568	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications	CA10303362	rs_774940679	2 SubmittersRCV000373272 RCV003718214
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)	SNV Germline	Chr22:50064120	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA16042025	rs_1057516465	4 SubmittersRCV000409034 RCV001861366 RCV004017600
NM_015166.4(MLC1):c.895-1G>C	SNV Unknown	Chr22:50064199	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter	CA16042026	rs_755271052	1 SubmittersRCV000410606
NM_015166.4(MLC1):c.525+1G>A	SNV Germline	Chr22:50077400	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10303515	rs_769135961	4 SubmittersRCV000410268 RCV001821135
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)	SNV Germline	Chr22:50084836	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16042032	rs_1057517228	3 SubmittersRCV000410294 RCV003669145
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)	SNV Germline	Chr11:124923996	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	No Assertion Criteria Provided	CA383141745	rs_1555055028	1 SubmittersRCV000499085
NM_015166.4(MLC1):c.177+1G>T	SNV Germline	Chr22:50084725	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided Abnormality of the nervous system Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications		rs_1374593138	4 SubmittersRCV000661967 RCV001380082 RCV001814208 RCV003472059
NM_015166.4(MLC1):c.1059+1G>A	SNV Unknown	Chr22:50064033	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_1555963392	1 SubmittersRCV000674690
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)	SNV Unknown	Chr22:50061585	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_1555962581	1 SubmittersRCV000667614
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	SNV Unknown	Chr22:50074296	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_281875317	2 SubmittersRCV000668812
NM_015166.4(MLC1):c.321+1G>T	SNV Unknown	Chr22:50080343	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_765879182	1 SubmittersRCV000674600
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)	SNV Unknown	Chr22:50064190	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_764754702	1 SubmittersRCV000667290
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	SNV Germline	Chr22:50068503	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_764669598	4 SubmittersRCV000669743 RCV001855527
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	SNV Germline	Chr22:50074302	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 not specified Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts MLC1-related disorder	Criteria Provided Conflicting Classifications		rs_11568178	7 SubmittersRCV000665829 RCV000730237 RCV000914569 RCV001272312 RCV003945698
NM_015166.4(MLC1):c.321+1G>A	SNV Germline	Chr22:50080343	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_765879182	4 SubmittersRCV000665173 RCV002530647
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)	SNV Germline	Chr22:50084808	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Conflicting Classifications		rs_200382943	4 SubmittersRCV000671823 RCV000938884 RCV001830452
NM_152722.5(HEPACAM):c.803+1G>A	SNV Germline	Chr11:124923339	Conflicting classifications of pathogenicity	Autism spectrum disorder Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Criteria Provided Conflicting Classifications		rs_375712202	2 SubmittersRCV000754671 RCV003448336
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)	SNV Unknown	Chr11:124924796	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_1565339091	1 SubmittersRCV000722141
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)	SNV Germline	Chr22:50064150	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1569242061	2 SubmittersRCV000760802 RCV004569426
NM_015166.4(MLC1):c.218G>A (p.Gly73Glu)	SNV Germline	Chr22:50083133	Pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1602063709	2 SubmittersRCV000800745 RCV003472364
NM_152722.5(HEPACAM):c.428-8C>T	SNV Germline	Chr11:124924018	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts HEPACAM-related disorder	Criteria Provided Conflicting Classifications		rs_372037019	3 SubmittersRCV000909314 RCV001108553 RCV003958290
NM_152722.5(HEPACAM):c.636C>T (p.Asp212=)	SNV Germline	Chr11:124923802	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Conflicting Classifications		rs_137886095	2 SubmittersRCV000913416 RCV001106335
NM_015166.4(MLC1):c.1113C>T (p.Val371=)	SNV Germline	Chr22:50061604	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications		rs_1269494985	2 SubmittersRCV000943588 RCV001149653
NM_015166.4(MLC1):c.477G>A (p.Thr159=)	SNV Germline	Chr22:50077449	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications		rs_374829012	3 SubmittersRCV001272316 RCV000943560 RCV001148199
NM_015166.4(MLC1):c.701G>A (p.Trp234Ter)	SNV Germline	Chr22:50074229	Pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Single Submitter		rs_781004589	2 SubmittersRCV001046663 RCV001274272
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	SNV Germline	Chr22:50079988	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_281875316	4 SubmittersRCV001062793 RCV002497450
NM_015166.4(MLC1):c.423+1G>A	SNV Germline	Chr22:50079917	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_752428321	4 SubmittersRCV001063150 RCV001196731
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)	SNV Germline	Chr22:50083168	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_1436214826	2 SubmittersRCV001258387
NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=)	SNV Germline	Chr11:124921261	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications		rs_1027354479	2 SubmittersRCV001103287 RCV003769080
NM_152722.5(HEPACAM):c.702C>T (p.Thr234=)	SNV Germline	Chr11:124923736	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications		rs_143069676	3 SubmittersRCV001105202 RCV001568456
NM_152722.5(HEPACAM):c.709+12C>T	SNV Germline	Chr11:124923717	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided	Criteria Provided Conflicting Classifications		rs_532459336	2 SubmittersRCV001105201 RCV002558050
NM_015166.4(MLC1):c.879C>T (p.Tyr293=)	SNV Germline	Chr22:50068448	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1569244149	2 SubmittersRCV001145344 RCV001492158
NM_015166.4(MLC1):c.1060-9C>T	SNV Germline	Chr22:50061666	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_569220214	2 SubmittersRCV001149654 RCV001425314
NM_015166.4(MLC1):c.772-15G>A	SNV Germline	Chr22:50068570	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_374916974	2 SubmittersRCV001145345 RCV002070756
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)	SNV Unknown	Chr22:50068488	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_121908341	1 SubmittersRCV001263680
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)	SNV Germline	Chr22:50076879	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_761502278	2 SubmittersRCV001263681
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)	SNV Unknown	Chr22:50077409	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_766461175	1 SubmittersRCV001263682
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)	SNV Unknown	Chr22:50079928	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_2062076867	1 SubmittersRCV001263683
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)	SNV Unknown	Chr22:50079948	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_2062077684	1 SubmittersRCV001263684
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)	SNV Unknown	Chr22:50079964	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_2062078281	1 SubmittersRCV001263685
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)	SNV Unknown	Chr22:50080000	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_1458824689	1 SubmittersRCV001263686
NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile)	SNV Germline	Chr11:124924896	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided	Criteria Provided Conflicting Classifications		rs_142346902	2 SubmittersRCV001332974 RCV001865771
NM_015166.4(MLC1):c.597+2T>A	SNV Germline	Chr22:50076839	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1425964299	2 SubmittersRCV001377857 RCV004570925
NM_015166.4(MLC1):c.423+1G>T	SNV Germline	Chr22:50079917	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_752428321	3 SubmittersRCV001379411 RCV001831368 RCV003473919
NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter)	SNV Germline	Chr11:124923915	Pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability	Criteria Provided Multiple Submitters No Conflicts		rs_752637604	2 SubmittersRCV001380252 RCV003323873
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	SNV Germline	Chr22:50083102	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts		rs_1289520784	4 SubmittersRCV001506968 RCV002564186 RCV003317503
NM_015166.4(MLC1):c.251G>A (p.Arg84His)	SNV Germline	Chr22:50083100	Pathogenic/Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1425784992	3 SubmittersRCV001806844 RCV001885261 RCV003475099
NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)	SNV Germline	Chr22:50079973	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_769089143	1 SubmittersRCV001806385
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	SNV Germline	Chr22:50068446	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1050220787	3 SubmittersRCV001942293 RCV002307813 RCV003475224
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)	SNV Germline	Chr22:50077456	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts		rs_1219458189	2 SubmittersRCV002274702 RCV003475321
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)	SNV Unknown	Chr22:50079958	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV002306638
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)	SNV Unknown	Chr22:50068435	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV002309875
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)	SNV Unknown	Chr22:50076842	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV002307178
NM_015166.4(MLC1):c.597+1G>A	SNV Germline	Chr22:50076840	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003064664 RCV003475500
NM_015166.4(MLC1):c.321+2T>G	SNV Germline	Chr22:50080342	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002751482 RCV003475418
NM_015166.4(MLC1):c.321+2T>C	SNV Germline	Chr22:50080342	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002890859 RCV003475451
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)	SNV Germline	Chr22:50068529	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter		rs_777790290	1 SubmittersRCV003227569
NM_001650.7(AQP4):c.643G>A (p.Ala215Thr)	SNV Germline	Chr18:26860822	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	No Assertion Criteria Provided		rs_148498248	1 SubmittersRCV003315379
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)	SNV Unknown	Chr22:50083097	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476490
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)	SNV Unknown	Chr22:50068524	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476494
NM_015166.4(MLC1):c.1059+1G>T	SNV Unknown	Chr22:50064033	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476496
NM_015166.4(MLC1):c.894+1G>A	SNV Unknown	Chr22:50068432	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476497
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)	SNV Unknown	Chr22:50083088	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476498
NM_015166.4(MLC1):c.526-2A>G	SNV Unknown	Chr22:50076914	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476499
NM_015166.4(MLC1):c.178-2A>G	SNV Unknown	Chr22:50083175	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476501
NM_015166.4(MLC1):c.322-1G>T	SNV Germline	Chr22:50080020	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003476505 RCV003565675
NM_015166.4(MLC1):c.772-1G>C	SNV Unknown	Chr22:50068556	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003476506
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)	SNV Germline	Chr22:50084900	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV003988741
NM_152722.5(HEPACAM):c.949-2A>G	SNV Germline	Chr11:124921442	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A	Criteria Provided Single Submitter			1 SubmittersRCV004527535
NM_015166.4(MLC1):c.1060-2A>G	SNV Unknown	Chr22:50061659	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV004574870
NM_015166.4(MLC1):c.525+2T>C	SNV Unknown	Chr22:50077399	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV004574872

SNV
Germline

Chr22:50080387

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA340283

rs_80358245

7 SubmittersRCV000004979 RCV001380081 RCV003155016

NM_015166.4(MLC1):c.895-2A>G

SNV
Germline

Chr22:50064200

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

rs_1183818307

1 SubmittersRCV000004981

NM_015166.4(MLC1):c.423C>A (p.Asn141Lys)

SNV
Germline

Chr22:50079918

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA253251

rs_121908343

1 SubmittersRCV000004982

NM_015166.4(MLC1):c.422A>G (p.Asn141Ser)

SNV
Germline

Chr22:50079919

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA253252

rs_121908344

1 SubmittersRCV000004983

NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)

SNV
Germline

Chr22:50080391

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253253

rs_121908345

10 SubmittersRCV000004984 RCV001844006 RCV001378687

NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)

SNV
Germline

Chr22:50084727

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA340284

rs_80358242

9 SubmittersRCV000004986 RCV000293896 RCV001826418

NM_015166.4(MLC1):c.178-10T>A

SNV
Germline

Chr22:50083183

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Macrocephaly
CNS demyelination
Cerebellar ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342170

rs_80358243

4 SubmittersRCV000020712 RCV000626926 RCV002513148

NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr)

SNV
Germline

Chr11:124923851

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided

Criteria Provided
Single Submitter

CA259944

rs_387907049

2 SubmittersRCV000023902 RCV001092301

NM_152722.5(HEPACAM):c.789G>A (p.Trp263Ter)

SNV
Germline

Chr11:124923354

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A

No Assertion Criteria Provided

1 SubmittersRCV000023903

NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)

SNV
Germline

Chr11:124924880

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A

Criteria Provided
Multiple Submitters
No Conflicts

CA342765

rs_387907050

4 SubmittersRCV000023904

NM_152722.5(HEPACAM):c.631G>A (p.Asp211Asn)

SNV
Germline

Chr11:124923807

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A

No Assertion Criteria Provided

CA259945

rs_387907051

1 SubmittersRCV000023905

NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys)

SNV
Germline

Chr11:124924863

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A

No Assertion Criteria Provided

CA259946

rs_387907052

2 SubmittersRCV000023906

NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)

SNV
Germline

Chr11:124924890

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided
HEPACAM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259947

rs_387907053

6 SubmittersRCV000023907 RCV000055996 RCV000390259 RCV003407358

NM_152722.5(HEPACAM):c.266G>A (p.Gly89Asp)

SNV
Germline

Chr11:124924889

Likely pathogenic

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Condition: not provided

Criteria Provided
Single Submitter

CA129534

rs_387907054

2 SubmittersRCV002280810 RCV003314557

NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp)

SNV
Germline

Chr11:124924881

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided

Criteria Provided
Single Submitter

CA259948

rs_387907055

3 SubmittersRCV000023909 RCV000055997 RCV003556082

NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)

SNV
Germline

Chr22:50083145

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA219962

rs_281875309

7 SubmittersRCV000024319 RCV000059741 RCV001826507

NM_015166.4(MLC1):c.240G>A (p.Met80Ile)

SNV
Germline

Chr22:50083111

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

CA219963

rs_281875310

5 SubmittersRCV000059742 RCV001810419

NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)

SNV
Germline

Chr22:50083101

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA219964

rs_281875311

4 SubmittersRCV000059743 RCV001831812 RCV003474653

NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)

SNV
Germline

Chr22:50074296

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA219967

rs_281875317

7 SubmittersRCV000059746 RCV000412227 RCV003235028

NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)

SNV
Germline

Chr22:50064134

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA219970

rs_281875313

5 SubmittersRCV000059749 RCV000411937

NM_015166.4(MLC1):c.714+1G>A

SNV
Germline

Chr22:50074215

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274211

rs_761620701

3 SubmittersRCV000169359 RCV001850397

NM_015166.4(MLC1):c.617G>T (p.Gly206Val)

SNV
Germline

Chr22:50074313

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA412109375

rs_1114167286

1 SubmittersRCV000491615

NM_015166.4(MLC1):c.598-9C>T

SNV
Germline

Chr22:50074341

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
MLC1-related disorder

Criteria Provided
Conflicting Classifications

CA10303440

rs_200463656

4 SubmittersRCV000274877 RCV001272314 RCV003930098

NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)

SNV
Germline

Chr11:124922760

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6345625

rs_149782549

5 SubmittersRCV000288266 RCV000994750 RCV004021501

NM_152722.5(HEPACAM):c.472C>T (p.Leu158=)

SNV
Germline

Chr11:124923966

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6345728

rs_781748998

2 SubmittersRCV000335539 RCV002520693

NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)

SNV
Germline

Chr11:124921317

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
not specified
Intellectual disability
HEPACAM-related disorder

Criteria Provided
Conflicting Classifications

CA10638212

rs_536963649

7 SubmittersRCV000358121 RCV000994749 RCV001193311 RCV001252515 RCV003930281

NM_152722.5(HEPACAM):c.803+6G>A

SNV
Germline

Chr11:124923334

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6345653

rs_544709540

2 SubmittersRCV000383269 RCV002056176

NM_152722.5(HEPACAM):c.591C>T (p.Pro197=)

SNV
Germline

Chr11:124923847

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6345709

rs_201011094

5 SubmittersRCV000294554 RCV000923638 RCV001820888

NM_152722.5(HEPACAM):c.87C>G (p.Asp29Glu)

SNV
Germline

Chr11:124925068

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6345820

rs_148838622

3 SubmittersRCV000307943 RCV002520694 RCV003546508

NM_152722.4(HEPACAM):c.-67G>T

SNV
Germline

Chr11:124936073

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10638227

rs_28372748

2 SubmittersRCV000385985 RCV001582935

NM_015166.4(MLC1):c.1032C>T (p.Asn344=)

SNV
Germline

Chr22:50064061

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Conflicting Classifications

CA10303268

rs_199707637

3 SubmittersRCV000264493 RCV000940962 RCV001828339

NM_015166.4(MLC1):c.715-5C>A

SNV
Germline

Chr22:50070588

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Conflicting Classifications

CA10303389

rs_751850836

4 SubmittersRCV000671762 RCV001456100 RCV001833466

NM_015166.4(MLC1):c.627C>T (p.Ala209=)

SNV
Germline

Chr22:50074303

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Conflicting Classifications

CA10303434

rs_138153307

5 SubmittersRCV000329979 RCV000914796 RCV001272313

NM_015166.4(MLC1):c.561A>C (p.Glu187Asp)

SNV
Germline

Chr22:50076877

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
MLC1-related disorder

Criteria Provided
Conflicting Classifications

CA10303468

rs_148532625

3 SubmittersRCV000344988 RCV002520065 RCV003912442

NM_015166.4(MLC1):c.772-13G>A

SNV
Germline

Chr22:50068568

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10303362

rs_774940679

2 SubmittersRCV000373272 RCV003718214

NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr22:50064120

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA16042025

rs_1057516465

4 SubmittersRCV000409034 RCV001861366 RCV004017600

NM_015166.4(MLC1):c.895-1G>C

SNV
Unknown

Chr22:50064199

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

CA16042026

rs_755271052

1 SubmittersRCV000410606

NM_015166.4(MLC1):c.525+1G>A

SNV
Germline

Chr22:50077400

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10303515

rs_769135961

4 SubmittersRCV000410268 RCV001821135

NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)

SNV
Germline

Chr22:50084836

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042032

rs_1057517228

3 SubmittersRCV000410294 RCV003669145

NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)

SNV
Germline

Chr11:124923996

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability

No Assertion Criteria Provided

CA383141745

rs_1555055028

1 SubmittersRCV000499085

NM_015166.4(MLC1):c.177+1G>T

SNV
Germline

Chr22:50084725

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
Abnormality of the nervous system
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

rs_1374593138

4 SubmittersRCV000661967 RCV001380082 RCV001814208 RCV003472059

NM_015166.4(MLC1):c.1059+1G>A

SNV
Unknown

Chr22:50064033

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_1555963392

1 SubmittersRCV000674690

NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)

SNV
Unknown

Chr22:50061585

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_1555962581

1 SubmittersRCV000667614

NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)

SNV
Unknown

Chr22:50074296

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_281875317

2 SubmittersRCV000668812

NM_015166.4(MLC1):c.321+1G>T

SNV
Unknown

Chr22:50080343

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_765879182

1 SubmittersRCV000674600

NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)

SNV
Unknown

Chr22:50064190

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_764754702

1 SubmittersRCV000667290

NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)

SNV
Germline

Chr22:50068503

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_764669598

4 SubmittersRCV000669743 RCV001855527

NM_015166.4(MLC1):c.628G>A (p.Val210Ile)

SNV
Germline

Chr22:50074302

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
not specified
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
MLC1-related disorder

Criteria Provided
Conflicting Classifications

rs_11568178

7 SubmittersRCV000665829 RCV000730237 RCV000914569 RCV001272312 RCV003945698

NM_015166.4(MLC1):c.321+1G>A

SNV
Germline

Chr22:50080343

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_765879182

4 SubmittersRCV000665173 RCV002530647

NM_015166.4(MLC1):c.95C>T (p.Ala32Val)

SNV
Germline

Chr22:50084808

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Conflicting Classifications

rs_200382943

4 SubmittersRCV000671823 RCV000938884 RCV001830452

NM_152722.5(HEPACAM):c.803+1G>A

SNV
Germline

Chr11:124923339

Conflicting classifications of pathogenicity

Autism spectrum disorder
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability

Criteria Provided
Conflicting Classifications

rs_375712202

2 SubmittersRCV000754671 RCV003448336

NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)

SNV
Unknown

Chr11:124924796

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_1565339091

1 SubmittersRCV000722141

NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr22:50064150

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569242061

2 SubmittersRCV000760802 RCV004569426

NM_015166.4(MLC1):c.218G>A (p.Gly73Glu)

SNV
Germline

Chr22:50083133

Pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602063709

2 SubmittersRCV000800745 RCV003472364

NM_152722.5(HEPACAM):c.428-8C>T

SNV
Germline

Chr11:124924018

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
HEPACAM-related disorder

Criteria Provided
Conflicting Classifications

rs_372037019

3 SubmittersRCV000909314 RCV001108553 RCV003958290

NM_152722.5(HEPACAM):c.636C>T (p.Asp212=)

SNV
Germline

Chr11:124923802

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Conflicting Classifications

rs_137886095

2 SubmittersRCV000913416 RCV001106335

NM_015166.4(MLC1):c.1113C>T (p.Val371=)

SNV
Germline

Chr22:50061604

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

rs_1269494985

2 SubmittersRCV000943588 RCV001149653

NM_015166.4(MLC1):c.477G>A (p.Thr159=)

SNV
Germline

Chr22:50077449

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

rs_374829012

3 SubmittersRCV001272316 RCV000943560 RCV001148199

NM_015166.4(MLC1):c.701G>A (p.Trp234Ter)

SNV
Germline

Chr22:50074229

Pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Single Submitter

rs_781004589

2 SubmittersRCV001046663 RCV001274272

NM_015166.4(MLC1):c.353C>T (p.Thr118Met)

SNV
Germline

Chr22:50079988

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_281875316

4 SubmittersRCV001062793 RCV002497450

NM_015166.4(MLC1):c.423+1G>A

SNV
Germline

Chr22:50079917

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_752428321

4 SubmittersRCV001063150 RCV001196731

NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)

SNV
Germline

Chr22:50083168

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_1436214826

2 SubmittersRCV001258387

NM_152722.5(HEPACAM):c.1128G>A (p.Ser376=)

SNV
Germline

Chr11:124921261

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1027354479

2 SubmittersRCV001103287 RCV003769080

NM_152722.5(HEPACAM):c.702C>T (p.Thr234=)

SNV
Germline

Chr11:124923736

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143069676

3 SubmittersRCV001105202 RCV001568456

NM_152722.5(HEPACAM):c.709+12C>T

SNV
Germline

Chr11:124923717

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_532459336

2 SubmittersRCV001105201 RCV002558050

NM_015166.4(MLC1):c.879C>T (p.Tyr293=)

SNV
Germline

Chr22:50068448

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1569244149

2 SubmittersRCV001145344 RCV001492158

NM_015166.4(MLC1):c.1060-9C>T

SNV
Germline

Chr22:50061666

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_569220214

2 SubmittersRCV001149654 RCV001425314

NM_015166.4(MLC1):c.772-15G>A

SNV
Germline

Chr22:50068570

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374916974

2 SubmittersRCV001145345 RCV002070756

NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)

SNV
Unknown

Chr22:50068488

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_121908341

1 SubmittersRCV001263680

NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)

SNV
Germline

Chr22:50076879

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_761502278

2 SubmittersRCV001263681

NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)

SNV
Unknown

Chr22:50077409

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_766461175

1 SubmittersRCV001263682

NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)

SNV
Unknown

Chr22:50079928

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_2062076867

1 SubmittersRCV001263683

NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)

SNV
Unknown

Chr22:50079948

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_2062077684

1 SubmittersRCV001263684

NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)

SNV
Unknown

Chr22:50079964

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_2062078281

1 SubmittersRCV001263685

NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)

SNV
Unknown

Chr22:50080000

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_1458824689

1 SubmittersRCV001263686

NM_152722.5(HEPACAM):c.259G>A (p.Val87Ile)

SNV
Germline

Chr11:124924896

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142346902

2 SubmittersRCV001332974 RCV001865771

NM_015166.4(MLC1):c.597+2T>A

SNV
Germline

Chr22:50076839

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1425964299

2 SubmittersRCV001377857 RCV004570925

NM_015166.4(MLC1):c.423+1G>T

SNV
Germline

Chr22:50079917

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_752428321

3 SubmittersRCV001379411 RCV001831368 RCV003473919

NM_152722.5(HEPACAM):c.523A>T (p.Lys175Ter)

SNV
Germline

Chr11:124923915

Pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

rs_752637604

2 SubmittersRCV001380252 RCV003323873

NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)

SNV
Germline

Chr22:50083102

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

rs_1289520784

4 SubmittersRCV001506968 RCV002564186 RCV003317503

NM_015166.4(MLC1):c.251G>A (p.Arg84His)

SNV
Germline

Chr22:50083100

Pathogenic/Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts
Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1425784992

3 SubmittersRCV001806844 RCV001885261 RCV003475099

NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)

SNV
Germline

Chr22:50079973

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_769089143

1 SubmittersRCV001806385

NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)

SNV
Germline

Chr22:50068446

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1050220787

3 SubmittersRCV001942293 RCV002307813 RCV003475224

NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)

SNV
Germline

Chr22:50077456

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1219458189

2 SubmittersRCV002274702 RCV003475321

NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)

SNV
Unknown

Chr22:50079958

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV002306638

NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)

SNV
Unknown

Chr22:50068435

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV002309875

NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)

SNV
Unknown

Chr22:50076842

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV002307178

NM_015166.4(MLC1):c.597+1G>A

SNV
Germline

Chr22:50076840

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064664 RCV003475500

NM_015166.4(MLC1):c.321+2T>G

SNV
Germline

Chr22:50080342

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002751482 RCV003475418

NM_015166.4(MLC1):c.321+2T>C

SNV
Germline

Chr22:50080342

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002890859 RCV003475451

NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)

SNV
Germline

Chr22:50068529

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

rs_777790290

1 SubmittersRCV003227569

NM_001650.7(AQP4):c.643G>A (p.Ala215Thr)

SNV
Germline

Chr18:26860822

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

No Assertion Criteria Provided

rs_148498248

1 SubmittersRCV003315379

NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)

SNV
Unknown

Chr22:50083097

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476490

NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)

SNV
Unknown

Chr22:50068524

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476494

NM_015166.4(MLC1):c.1059+1G>T

SNV
Unknown

Chr22:50064033

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476496

NM_015166.4(MLC1):c.894+1G>A

SNV
Unknown

Chr22:50068432

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476497

NM_015166.4(MLC1):c.263G>T (p.Gly88Val)

SNV
Unknown

Chr22:50083088

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476498

NM_015166.4(MLC1):c.526-2A>G

SNV
Unknown

Chr22:50076914

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476499

NM_015166.4(MLC1):c.178-2A>G

SNV
Unknown

Chr22:50083175

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476501

NM_015166.4(MLC1):c.322-1G>T

SNV
Germline

Chr22:50080020

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476505 RCV003565675

NM_015166.4(MLC1):c.772-1G>C

SNV
Unknown

Chr22:50068556

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003476506

NM_015166.4(MLC1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr22:50084900

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV003988741

NM_152722.5(HEPACAM):c.949-2A>G

SNV
Germline

Chr11:124921442

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A

Criteria Provided
Single Submitter

1 SubmittersRCV004527535

NM_015166.4(MLC1):c.1060-2A>G

SNV
Unknown

Chr22:50061659

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574870

NM_015166.4(MLC1):c.525+2T>C

SNV
Unknown

Chr22:50077399

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV004574872