"Baylor Genetics"[submitter] AND "MLC1"[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241939	NM_015166.4(MLC1):c.1060-2A>G	MLC1	Single nucleotide variant (splice acceptor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676565	NM_015166.4(MLC1):c.1059+1G>T	MLC1	Single nucleotide variant (splice donor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 547978	NM_015166.4(MLC1):c.1008G>T (p.Gln336His)	MLC1 (Q336H +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GUncertain significance
Select item 370408	NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)	MLC1 (Q325* +5 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 68797	NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)	MLC1 (T320K +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GPathogenic/Likely pathogenic
Select item 2676572	NM_015166.4(MLC1):c.949_952del (p.Gly317fs)	MLC1 (G238fs +5 more)	Microsatellite (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 620427	NM_015166.4(MLC1):c.943C>T (p.Gln315Ter)	MLC1 (Q315* +5 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely pathogenic
Select item 1702863	NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)	MLC1 (V224fs +5 more)	Indel (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic
Select item 2676566	NM_015166.4(MLC1):c.894+1G>A	MLC1	Single nucleotide variant (splice donor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
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 +2 more	GPathogenic/Likely pathogenic
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 554164	NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)	MLC1 (A275D +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676563	NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)	MLC1 (T189R +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676569	NM_015166.4(MLC1):c.791dup (p.Ser265fs)	MLC1 (S186fs +5 more)	Duplication (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676575	NM_015166.4(MLC1):c.772-1G>C	MLC1	Single nucleotide variant (splice acceptor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GPathogenic
Select item 2676564	NM_015166.4(MLC1):c.759del (p.Ser254fs)	MLC1 (S175fs +4 more)	Deletion (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 947987	NM_015166.4(MLC1):c.754dup (p.Cys252fs)	MLC1 (C200fs +4 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676561	NM_015166.4(MLC1):c.752_753del (p.Glu251fs)	MLC1 (E172fs +4 more)	Microsatellite (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 188980	NM_015166.4(MLC1):c.714+1G>A	MLC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1335979	NM_015166.4(MLC1):c.639dup (p.Ile214fs)	MLC1 (I135fs +4 more)	Duplication (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 553381	NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)	MLC1 (G212R +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GLikely pathogenic
Select item 1066769	NM_015166.4(MLC1):c.597+2T>A	MLC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2138459	NM_015166.4(MLC1):c.597+1G>A	MLC1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4720	NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	MLC1	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2676568	NM_015166.4(MLC1):c.526-2A>G	MLC1	Single nucleotide variant (splice acceptor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 3241941	NM_015166.4(MLC1):c.525+2T>C	MLC1	Single nucleotide variant (splice donor variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676560	NM_015166.4(MLC1):c.521_524del (p.Lys174fs)	MLC1 (K122fs +4 more)	Deletion (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1700453	NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)	MLC1 (A105E +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely pathogenic
Select item 371207	NM_015166.4(MLC1):c.449_455del (p.Leu150fs)	MLC1 (L150fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1067995	NM_015166.4(MLC1):c.423+1G>T	MLC1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 857476	NM_015166.4(MLC1):c.423+1G>A	MLC1	Single nucleotide variant (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 857173	NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	MLC1 (T118M +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 2676573	NM_015166.4(MLC1):c.346_349del (p.Val116fs)	MLC1 (V116fs +2 more)	Microsatellite (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676571	NM_015166.4(MLC1):c.340_341del (p.Leu114fs)	MLC1 (L114fs +2 more)	Deletion (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 189169	NM_015166.4(MLC1):c.324del (p.Asn110fs)	MLC1 (N110fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676574	NM_015166.4(MLC1):c.322-1G>T	MLC1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2040931	NM_015166.4(MLC1):c.321+2T>C	MLC1	Single nucleotide variant (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely pathogenic
Select item 1981453	NM_015166.4(MLC1):c.321+2T>G	MLC1	Single nucleotide variant (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely pathogenic
Select item 550431	NM_015166.4(MLC1):c.321+1G>A	MLC1	Single nucleotide variant (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely 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 2676567	NM_015166.4(MLC1):c.263G>T (p.Gly88Val)	MLC1, LOC125446261 (G88V +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676559	NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)	LOC125446261, MLC1 (C6Y +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely 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)	Megalencephalic leukoencephalopathy with subcortical cysts +2 more	GPathogenic/Likely pathogenic
Select item 68791	NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)	LOC125446261, MLC1 (R84C +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely 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)	not provided +2 more	GLikely pathogenic
Select item 1033743	NM_015166.4(MLC1):c.230C>T (p.Pro77Leu)	LOC125446261, MLC1 (P77L)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 646457	NM_015166.4(MLC1):c.218G>A (p.Gly73Glu)	LOC125446261, MLC1 (G73E)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
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 2676570	NM_015166.4(MLC1):c.178-2A>G	LOC125446261, MLC1	Single nucleotide variant (splice acceptor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2676562	NM_015166.4(MLC1):c.177+1del	MLC1	Deletion (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 548493	NM_015166.4(MLC1):c.177+1G>T	MLC1	Single nucleotide variant (splice donor variant +1 more)	Abnormality of the nervous system +3 more	GConflicting classifications of pathogenicity
Select item 1027949	NM_015166.4(MLC1):c.177G>A (p.Gly59=)	MLC1	Single nucleotide variant (synonymous variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 4721	NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	MLC1 (G59E)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 370785	NM_015166.4(MLC1):c.136del (p.Cys46fs)	MLC1 (C46fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4722	NM_015166.4(MLC1):c.135dup (p.Cys46fs)	MLC1 (C46fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 3241940	NM_015166.4(MLC1):c.93del (p.Asp31fs)	MLC1 (D31fs)	Deletion (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 371381	NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)	MLC1 (Q23*)	Single nucleotide variant (nonsense +2 more)	not provided +1 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 specified +2 more	GUncertain significance
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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Items: 62