"Revvity Omics, Revvity"[submitter] AND "MLC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441418	NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)	MLC1	Deletion (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 947987	NM_015166.4(MLC1):c.754dup (p.Cys252fs)	MLC1 (C200fs +4 more)	Duplication (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 983678	NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)	MLC1 (E108* +4 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 371509	NM_015166.4(MLC1):c.525+1G>A	MLC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 548930	NM_015166.4(MLC1):c.177+5G>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 4722	NM_015166.4(MLC1):c.135dup (p.Cys46fs)	MLC1 (C46fs)	Duplication (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic
Select item 2057980	NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)	MLC1 (P34L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar