C5779875[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901917	NM_015166.4(MLC1):c.*55C>T	MLC1	Single nucleotide variant (3 prime UTR variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign
Select item 262456	NM_015166.4(MLC1):c.*48A>G	MLC1	Single nucleotide variant (3 prime UTR variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 260572	NM_015166.4(MLC1):c.*45A>G	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 597792	NM_015166.4(MLC1):c.1111G>A (p.Val371Ile)	MLC1 (V371I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 522910	NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn)	MLC1 (D363N +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GUncertain significance
Select item 1294842	NM_015166.4(MLC1):c.1059+27A>G	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign
Select item 1321171	NM_015166.4(MLC1):c.1059+20A>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1165889	NM_015166.4(MLC1):c.1059+16G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321172	NM_015166.4(MLC1):c.1059+13C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 129613	NM_015166.4(MLC1):c.1053T>C (p.Ala351=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 21521	NM_015166.4(MLC1):c.1031A>G (p.Asn344Ser)	MLC1 (N344S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 129618	NM_015166.4(MLC1):c.996T>C (p.Ser332=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 129617	NM_015166.4(MLC1):c.978C>T (p.Cys326=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 129616	NM_015166.4(MLC1):c.895-9C>T	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 262461	NM_015166.4(MLC1):c.895-23C>T	MLC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1172951	NM_015166.4(MLC1):c.895-139G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172952	NM_015166.4(MLC1):c.894+199C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172953	NM_015166.4(MLC1):c.894+194G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172954	NM_015166.4(MLC1):c.894+128C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1172955	NM_015166.4(MLC1):c.894+52T>C	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262460	NM_015166.4(MLC1):c.772-35C>T	MLC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1172956	NM_015166.4(MLC1):c.772-80C>G	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172957	NM_015166.4(MLC1):c.772-110A>G	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172977	NM_015166.4(MLC1):c.771+175T>C	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172978	NM_015166.4(MLC1):c.771+160T>C	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172979	NM_015166.4(MLC1):c.771+158G>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign
Select item 1172980	NM_015166.4(MLC1):c.771+61T>C	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172981	NM_015166.4(MLC1):c.771+59C>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262458	NM_015166.4(MLC1):c.714+28G>A	MLC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 550928	NM_015166.4(MLC1):c.628G>A (p.Val210Ile)	MLC1 (V210I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 342106	NM_015166.4(MLC1):c.627C>T (p.Ala209=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129615	NM_015166.4(MLC1):c.597A>G (p.Ser199=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 129614	NM_015166.4(MLC1):c.594C>T (p.Tyr198=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 743148	NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)	MLC1 (A103T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1172982	NM_015166.4(MLC1):c.526-118C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172983	NM_015166.4(MLC1):c.525+153G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165670	NM_015166.4(MLC1):c.525+64G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260574	NM_015166.4(MLC1):c.525+22G>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 21524	NM_015166.4(MLC1):c.512G>T (p.Cys171Phe)	MLC1 (C171F +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GBenign
Select item 260573	NM_015166.4(MLC1):c.321+50T>C	MLC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 342108	NM_015166.4(MLC1):c.279G>A (p.Ser93=)	MLC1	Single nucleotide variant (synonymous variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GBenign/Likely benign
Select item 1172984	NM_015166.4(MLC1):c.177+77G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1209639	NM_015166.4(MLC1):c.54G>A (p.Leu18=)	MLC1	Single nucleotide variant (synonymous variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 1209640	NM_015166.4(MLC1):c.41G>A (p.Arg14Gln)	MLC1 (R14Q)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance

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Items: 44