ClinVar Miner

List of variants reported as uncertain significance for leukoencephalopathy, megalencephalic by Genome-Nilou Lab

Included ClinVar conditions (8):

Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 3
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn)	rs779971307	0.00004
NM_015166.4(MLC1):c.1111G>A (p.Val371Ile)	rs200273593	0.00003
NM_015166.4(MLC1):c.41G>A (p.Arg14Gln)	rs1362564136
NM_015166.4(MLC1):c.54G>A (p.Leu18=)	rs2146945150

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