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.839C>T (p.Ser280Leu)	SNV Germline	Chr22:50068488	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA253250	rs_121908341	2 SubmittersRCV000004978
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	CA412106481	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	12 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 Condition: not provided Cerebellar ataxia CNS demyelination Macrocephaly	Criteria Provided Multiple Submitters No Conflicts	CA342170	rs_80358243	4 SubmittersRCV000020712 RCV002513148 RCV000626926
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	CA383140175	rs_2497463030	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	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided	Criteria Provided Single Submitter	CA259946	rs_387907052	3 SubmittersRCV000023906 RCV005089309
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)	SNV Germline	Chr11:124924890	Pathogenic/Likely 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	7 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 Multiple Submitters No Conflicts	CA259948	rs_387907055	4 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 not specified Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications	CA219963	rs_281875310	6 SubmittersRCV000059742 RCV004586537 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.736A>C (p.Ser246Arg)	SNV Germline	Chr22:50070562	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter	CA219969	rs_281875315	2 SubmittersRCV000059748 RCV005025112
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	SNV Germline	Chr22:50064134	Pathogenic/Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA219970	rs_281875313	7 SubmittersRCV000059749 RCV000411937 RCV004689442
NM_015166.4(MLC1):c.714+1G>A	SNV Germline	Chr22:50074215	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	3 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	8 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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6345820	rs_148838622	3 SubmittersRCV000307943 RCV003546508 RCV002520694
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 not specified	Criteria Provided Conflicting Classifications	CA10303389	rs_751850836	5 SubmittersRCV000671762 RCV001456100 RCV001833466 RCV004689720
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.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	No Assertion Criteria Provided	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	5 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	4 SubmittersRCV000410294 RCV003669145
NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)	SNV Germline	Chr11:124921191	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 2A Inborn genetic diseases Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability Megalencephalic leukoencephalopathy with subcortical cysts 1 Intellectual disability	Criteria Provided Conflicting Classifications	CA6345541	rs_770477104	8 SubmittersRCV000512664 RCV001196308 RCV003362787 RCV002502591 RCV005625607
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	CA412112212	rs_1374593138	6 SubmittersRCV000661967 RCV001380082 RCV001814208 RCV003472059
NM_015166.4(MLC1):c.1059+1G>A	SNV Germline	Chr22:50064033	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter	CA412105406	rs_1555963392	2 SubmittersRCV000674690
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)	SNV Unknown	Chr22:50061585	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA412104603	rs_1555962581	1 SubmittersRCV000667614
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	SNV Germline	Chr22:50074296	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA412109345	rs_281875317	3 SubmittersRCV000668812 RCV004768531
NM_015166.4(MLC1):c.321+1G>T	SNV Unknown	Chr22:50080343	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	No Assertion Criteria Provided	CA412111167	rs_765879182	1 SubmittersRCV000674600
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)	SNV Germline	Chr22:50064190	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter	CA412106402	rs_764754702	2 SubmittersRCV000667290
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	SNV Germline	Chr22:50068503	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10303345	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	CA10303433	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	CA10303612	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	CA10303683	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	CA6345654	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	CA383142972	rs_1565339091	1 SubmittersRCV000722141
NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)	SNV Germline	Chr22:50064150	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1 Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA412106136	rs_1569242061	4 SubmittersRCV004569426 RCV000760802 RCV005606707
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)	SNV Germline	Chr22:50068494	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications	CA412107693	rs_1569244190	5 SubmittersRCV000768440
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	CA412111628	rs_1602063709	2 SubmittersRCV000800745 RCV003472364
NM_152722.5(HEPACAM):c.428-8C>T	SNV Germline	Chr11:124924018	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts Condition: not provided HEPACAM-related disorder	Criteria Provided Conflicting Classifications	CA6345738	rs_372037019	4 SubmittersRCV001108553 RCV000909314 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	CA6345700	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	CA514998379	rs_1269494985	2 SubmittersRCV000943588 RCV001149653
NM_015166.4(MLC1):c.477G>A (p.Thr159=)	SNV Germline	Chr22:50077449	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications	CA10303532	rs_374829012	3 SubmittersRCV000943560 RCV001272316 RCV001148199
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)	SNV Germline	Chr22:50064176	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412106297	rs_768711345	3 SubmittersRCV000984496 RCV002550584
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	CA10303417	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	CA090935	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	CA10303565	rs_752428321	6 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	CA412111698	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	CA230384083	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	CA6345685	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	CA6345682	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	CA514999711	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	CA10303209	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	CA10303365	rs_374916974	2 SubmittersRCV001145345 RCV002070756
NM_152722.5(HEPACAM):c.139G>A (p.Val47Met)	SNV Germline	Chr11:124925016	Conflicting classifications of pathogenicity	Megalencephalic leukoencephalopathy with subcortical cysts 2A Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6345804	rs_149730492	3 SubmittersRCV001197244 RCV001863112 RCV002561051
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	CA412107672	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	CA412109503	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	CA412109629	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	CA412110561	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	CA412110630	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	CA412110670	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	CA412110741	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	CA6345780	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	CA412109425	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	CA412110524	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	CA6345720	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	CA412111559	rs_1289520784	4 SubmittersRCV001506968 RCV002564186 RCV003317503
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)	SNV Germline	Chr11:124924773	Conflicting classifications of pathogenicity	Condition: not provided not specified Megalencephalic leukoencephalopathy with subcortical cysts 2A	Criteria Provided Conflicting Classifications	CA383142841	rs_1947184803	4 SubmittersRCV001594101 RCV001779256 RCV004691438
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	CA412111556	rs_1425784992	4 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	CA10303577	rs_769089143	1 SubmittersRCV001806385
NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	SNV Germline	Chr22:50083096	Conflicting classifications of pathogenicity	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Conflicting Classifications	CA412111547	rs_2146932748	3 SubmittersRCV002012302 RCV004587267 RCV005031982
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	CA325485221	rs_1050220787	4 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	CA412109796	rs_1219458189	3 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	CA412110656	rs_2518333804	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	CA412107489	rs_2518487678	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	CA412109429	rs_774184754	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	CA412109428	rs_1569248367	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	CA10303611	rs_762436724	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	CA412111165	rs_762436724	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	CA10303354	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	CA8922572	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	CA412111551	rs_2518358218	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	CA412107773	rs_780903222	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	CA412105408	rs_1555963392	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	CA412107476	rs_1216099725	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	CA412111531	rs_2062186534	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	CA412109578	rs_2518313444	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	CA412111717	rs_2518359086	1 SubmittersRCV003476501
NM_015166.4(MLC1):c.322-1G>T	SNV Germline	Chr22:50080020	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Multiple Submitters No Conflicts	CA412110804	rs_2518334579	2 SubmittersRCV003565675 RCV003476505
NM_015166.4(MLC1):c.772-1G>C	SNV Unknown	Chr22:50068556	Pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter	CA412107882	rs_2518488789	1 SubmittersRCV003476506
NM_015166.4(MLC1):c.635G>A (p.Gly212Glu)	SNV Germline	Chr22:50074295	Likely pathogenic	Condition: not provided Megalencephalic leukoencephalopathy with subcortical cysts	Criteria Provided Multiple Submitters No Conflicts	CA10303430	rs_766231298	2 SubmittersRCV003560178 RCV005419658
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	CA412113007	rs_1223992285	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	CA383138148	rs_2497455398	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		rs_2518434727	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		rs_2518316990	1 SubmittersRCV004574872
NM_015166.4(MLC1):c.604G>A (p.Glu202Lys)	SNV Germline	Chr22:50074326	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV005030924
NM_015166.4(MLC1):c.597+2T>C	SNV Germline	Chr22:50076839	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV005030925
NM_015166.4(MLC1):c.424-1G>A	SNV Germline	Chr22:50077503	Likely pathogenic	Megalencephalic leukoencephalopathy with subcortical cysts 1	Criteria Provided Single Submitter			1 SubmittersRCV005034851

NM_015166.4(MLC1):c.839C>T (p.Ser280Leu)

SNV
Germline

Chr22:50068488

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA253250

rs_121908341

2 SubmittersRCV000004978

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

CA412106481

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

12 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
Condition: not provided
Cerebellar ataxia
CNS demyelination
Macrocephaly

Criteria Provided
Multiple Submitters
No Conflicts

CA342170

rs_80358243

4 SubmittersRCV000020712 RCV002513148 RCV000626926

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

CA383140175

rs_2497463030

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

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided

Criteria Provided
Single Submitter

CA259946

rs_387907052

3 SubmittersRCV000023906 RCV005089309

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

SNV
Germline

Chr11:124924890

Pathogenic/Likely 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

7 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
Multiple Submitters
No Conflicts

CA259948

rs_387907055

4 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
not specified
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

CA219963

rs_281875310

6 SubmittersRCV000059742 RCV004586537 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.736A>C (p.Ser246Arg)

SNV
Germline

Chr22:50070562

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

CA219969

rs_281875315

2 SubmittersRCV000059748 RCV005025112

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

SNV
Germline

Chr22:50064134

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA219970

rs_281875313

7 SubmittersRCV000059749 RCV000411937 RCV004689442

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

SNV
Germline

Chr22:50074215

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

3 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

8 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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6345820

rs_148838622

3 SubmittersRCV000307943 RCV003546508 RCV002520694

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
not specified

Criteria Provided
Conflicting Classifications

CA10303389

rs_751850836

5 SubmittersRCV000671762 RCV001456100 RCV001833466 RCV004689720

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.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

No Assertion Criteria Provided

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

5 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

4 SubmittersRCV000410294 RCV003669145

NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)

SNV
Germline

Chr11:124921191

Conflicting classifications of pathogenicity

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Inborn genetic diseases
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 1
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6345541

rs_770477104

8 SubmittersRCV000512664 RCV001196308 RCV003362787 RCV002502591 RCV005625607

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

CA412112212

rs_1374593138

6 SubmittersRCV000661967 RCV001380082 RCV001814208 RCV003472059

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

SNV
Germline

Chr22:50064033

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

CA412105406

rs_1555963392

2 SubmittersRCV000674690

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

SNV
Unknown

Chr22:50061585

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA412104603

rs_1555962581

1 SubmittersRCV000667614

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

SNV
Germline

Chr22:50074296

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA412109345

rs_281875317

3 SubmittersRCV000668812 RCV004768531

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

SNV
Unknown

Chr22:50080343

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

No Assertion Criteria Provided

CA412111167

rs_765879182

1 SubmittersRCV000674600

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

SNV
Germline

Chr22:50064190

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

CA412106402

rs_764754702

2 SubmittersRCV000667290

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

SNV
Germline

Chr22:50068503

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10303345

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

CA10303433

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

CA10303612

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

CA10303683

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

CA6345654

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

CA383142972

rs_1565339091

1 SubmittersRCV000722141

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

SNV
Germline

Chr22:50064150

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA412106136

rs_1569242061

4 SubmittersRCV004569426 RCV000760802 RCV005606707

NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)

SNV
Germline

Chr22:50068494

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Conflicting Classifications

CA412107693

rs_1569244190

5 SubmittersRCV000768440

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

CA412111628

rs_1602063709

2 SubmittersRCV000800745 RCV003472364

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

SNV
Germline

Chr11:124924018

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6345738

rs_372037019

4 SubmittersRCV001108553 RCV000909314 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

CA6345700

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

CA514998379

rs_1269494985

2 SubmittersRCV000943588 RCV001149653

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

SNV
Germline

Chr22:50077449

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10303532

rs_374829012

3 SubmittersRCV000943560 RCV001272316 RCV001148199

NM_015166.4(MLC1):c.917T>A (p.Leu306Gln)

SNV
Germline

Chr22:50064176

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412106297

rs_768711345

3 SubmittersRCV000984496 RCV002550584

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

CA10303417

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

CA090935

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

CA10303565

rs_752428321

6 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

CA412111698

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

CA230384083

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

CA6345685

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

CA6345682

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

CA514999711

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

CA10303209

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

CA10303365

rs_374916974

2 SubmittersRCV001145345 RCV002070756

NM_152722.5(HEPACAM):c.139G>A (p.Val47Met)

SNV
Germline

Chr11:124925016

Conflicting classifications of pathogenicity

Megalencephalic leukoencephalopathy with subcortical cysts 2A
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6345804

rs_149730492

3 SubmittersRCV001197244 RCV001863112 RCV002561051

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

CA412107672

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

CA412109503

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

CA412109629

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

CA412110561

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

CA412110630

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

CA412110670

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

CA412110741

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

CA6345780

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

CA412109425

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

CA412110524

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

CA6345720

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

CA412111559

rs_1289520784

4 SubmittersRCV001506968 RCV002564186 RCV003317503

NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn)

SNV
Germline

Chr11:124924773

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Megalencephalic leukoencephalopathy with subcortical cysts 2A

Criteria Provided
Conflicting Classifications

CA383142841

rs_1947184803

4 SubmittersRCV001594101 RCV001779256 RCV004691438

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

CA412111556

rs_1425784992

4 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

CA10303577

rs_769089143

1 SubmittersRCV001806385

NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)

SNV
Germline

Chr22:50083096

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA412111547

rs_2146932748

3 SubmittersRCV002012302 RCV004587267 RCV005031982

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

CA325485221

rs_1050220787

4 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

CA412109796

rs_1219458189

3 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

CA412110656

rs_2518333804

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

CA412107489

rs_2518487678

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

CA412109429

rs_774184754

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

CA412109428

rs_1569248367

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

CA10303611

rs_762436724

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

CA412111165

rs_762436724

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

CA10303354

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

CA8922572

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

CA412111551

rs_2518358218

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

CA412107773

rs_780903222

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

CA412105408

rs_1555963392

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

CA412107476

rs_1216099725

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

CA412111531

rs_2062186534

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

CA412109578

rs_2518313444

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

CA412111717

rs_2518359086

1 SubmittersRCV003476501

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

SNV
Germline

Chr22:50080020

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412110804

rs_2518334579

2 SubmittersRCV003565675 RCV003476505

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

SNV
Unknown

Chr22:50068556

Pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

CA412107882

rs_2518488789

1 SubmittersRCV003476506

NM_015166.4(MLC1):c.635G>A (p.Gly212Glu)

SNV
Germline

Chr22:50074295

Likely pathogenic

Condition: not provided
Megalencephalic leukoencephalopathy with subcortical cysts

Criteria Provided
Multiple Submitters
No Conflicts

CA10303430

rs_766231298

2 SubmittersRCV003560178 RCV005419658

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

CA412113007

rs_1223992285

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

CA383138148

rs_2497455398

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

rs_2518434727

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

rs_2518316990

1 SubmittersRCV004574872

NM_015166.4(MLC1):c.604G>A (p.Glu202Lys)

SNV
Germline

Chr22:50074326

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV005030924

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

SNV
Germline

Chr22:50076839

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV005030925

NM_015166.4(MLC1):c.424-1G>A

SNV
Germline

Chr22:50077503

Likely pathogenic

Megalencephalic leukoencephalopathy with subcortical cysts 1

Criteria Provided
Single Submitter

1 SubmittersRCV005034851