ClinVar Miner

List of variants reported as likely pathogenic for Megalencephalic leukoencephalopathy with subcortical cysts 1

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Total variants: 28
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HGVS dbSNP
NM_015166.3(MLC1):c.1059+1G>A rs1555963392
NM_015166.3(MLC1):c.1132T>C (p.Ter378Arg) rs1555962581
NM_015166.3(MLC1):c.136del (p.Cys46fs) rs1057516766
NM_015166.3(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015166.3(MLC1):c.271_272del (p.Ile91fs) rs1057516336
NM_015166.3(MLC1):c.274C>T (p.Pro92Ser) rs121908345
NM_015166.3(MLC1):c.278C>T (p.Ser93Leu) rs80358245
NM_015166.3(MLC1):c.321+1G>A rs765879182
NM_015166.3(MLC1):c.321+1G>T rs765879182
NM_015166.3(MLC1):c.324del (p.Asn110fs) rs786204747
NM_015166.3(MLC1):c.423+2dupT rs1555967668
NM_015166.3(MLC1):c.42del (p.Met15fs) rs1555968785
NM_015166.3(MLC1):c.525+1G>A rs769135961
NM_015166.3(MLC1):c.624_625del (p.Ala209fs) rs1057517375
NM_015166.3(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.3(MLC1):c.634G>C (p.Gly212Arg) rs281875317
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015166.3(MLC1):c.67C>T (p.Gln23Ter) rs1057517228
NM_015166.3(MLC1):c.714+1G>A rs761620701
NM_015166.3(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.3(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.3(MLC1):c.83dup (p.Tyr28Ter) rs1057516286
NM_015166.3(MLC1):c.895-1G>C rs755271052
NM_015166.3(MLC1):c.903C>G (p.Tyr301Ter) rs764754702
NM_015166.3(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_015166.3(MLC1):c.973C>T (p.Gln325Ter) rs1057516465
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys) rs1565339091

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