"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554972	NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup)	MLC1	Microsatellite (inframe_insertion +1 more)	not specified +2 more	GUncertain significance
Select item 1455282	NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)	MLC1 (P260L +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GPathogenic/Likely pathogenic
Select item 1331471	NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr)	MLC1 (S190Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 68794	NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)	MLC1 (G212R +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 129614	NM_015166.4(MLC1):c.594C>T (p.Tyr198=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 660628	NM_015166.4(MLC1):c.299_423+108del	MLC1	Deletion (splice acceptor variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4714	NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)	MLC1 (S93L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4719	NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	MLC1 (P92S +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 1331500	NM_015166.4(MLC1):c.251G>A (p.Arg84His)	LOC125446261, MLC1 (R5H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1162193	NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)	LOC125446261, MLC1 (L4F +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GLikely pathogenic
Select item 553750	NM_015166.4(MLC1):c.235G>A (p.Glu79Lys)	LOC125446261, MLC1 (E79K)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 31622	NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)	LOC125446261, MLC1 (S69L)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic
Select item 4721	NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	MLC1 (G59E)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GPathogenic/Likely pathogenic
Select item 225412	NM_015166.4(MLC1):c.65G>A (p.Arg22Gln)	MLC1 (R22Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1705231	NC_000022.10:g.(50500087_50502462)_(50524359_?)dup	MLC1	Duplication	not specified	GUncertain significance