ClinVar Miner

List of variants reported as uncertain significance for megalencephalic leukoencephalopathy with subcortical cysts by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (6):

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

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015166.4(MLC1):c.177+5G>A	rs1555968723
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)
NM_152722.5(HEPACAM):c.769G>C (p.Val257Leu)

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