Related gene-specific medical variations for Gene (Select 23209) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295025	NM_015166.4(MLC1):c.263G>C (p.Gly88Ala)	LOC125446261, MLC1 (G88A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3248125	NC_000022.10:g.(?_50518239)_(50518795_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248124	NC_000022.10:g.(?_50508936)_(50512781_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248123	NC_000022.10:g.(?_50512625)_(50518846_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248122	NC_000022.10:g.(?_50518337)_(50523373_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248121	NC_000022.10:g.(?_50521493)_(50523373_?)del	MLC1	Deletion	not provided	GPathogenic
Select item 3248120	NC_000022.10:g.(?_50506842)_(50507004_?)del	MLC1	Deletion	not provided	GPathogenic
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 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 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 3064153	NM_015166.4(MLC1):c.3G>A (p.Met1Ile)	MLC1 (M1I)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2989982	NM_015166.4(MLC1):c.178-12G>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984201	NM_015166.4(MLC1):c.267+16C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971861	NM_015166.4(MLC1):c.267+17A>G	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919960	NM_015166.4(MLC1):c.178-13C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919693	NM_015166.4(MLC1):c.257C>T (p.Ala86Val)	LOC125446261, MLC1 (A7V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2911562	NM_015166.4(MLC1):c.267+19G>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901073	NM_015166.4(MLC1):c.178-20A>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844564	NM_015166.4(MLC1):c.201G>A (p.Gly67=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2832457	NM_015166.4(MLC1):c.178-11C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783030	NM_015166.4(MLC1):c.267+1G>A	LOC125446261, MLC1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2760973	NM_015166.4(MLC1):c.213C>T (p.Tyr71=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2737056	NM_015166.4(MLC1):c.217G>A (p.Gly73Arg)	LOC125446261, MLC1 (G73R)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 2732873	NM_015166.4(MLC1):c.267+18C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730216	NM_015166.4(MLC1):c.247T>A (p.Leu83Met)	LOC125446261, MLC1 (L83M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2708833	NM_015166.4(MLC1):c.178-15_178-12dup	LOC125446261, MLC1	Duplication (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2571608	NM_015166.4(MLC1):c.838_843delinsATTTTA (p.Ser280_Phe281delinsIleLeu)	MLC1	Indel (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 2502880	NM_015166.4(MLC1):c.260C>T (p.Ala87Val)	LOC125446261, MLC1 (A87V +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 2123543	NM_015166.4(MLC1):c.207G>C (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2077279	NM_015166.4(MLC1):c.223G>A (p.Val75Met)	LOC125446261, MLC1 (V75M)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2057295	NM_015166.4(MLC1):c.225G>C (p.Val75=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2049219	NM_015166.4(MLC1):c.181T>A (p.Cys61Ser)	LOC125446261, MLC1 (C61S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2023140	NM_015166.4(MLC1):c.186C>T (p.Leu62=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2021710	NM_015166.4(MLC1):c.178-9G>C	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899894	NM_015166.4(MLC1):c.229C>G (p.Pro77Ala)	LOC125446261, MLC1 (P77A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1647198	NM_015166.4(MLC1):c.267+9C>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626670	NM_015166.4(MLC1):c.207G>T (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1624940	NM_015166.4(MLC1):c.267+18C>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615896	NM_015166.4(MLC1):c.207G>A (p.Ser69=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1539168	NM_015166.4(MLC1):c.183C>T (p.Cys61=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1449030	NM_015166.4(MLC1):c.255T>G (p.Cys85Trp)	LOC125446261, MLC1 (C6W +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts +1 more	GConflicting classifications of pathogenicity
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 1268429	NM_015166.4(MLC1):c.178-173G>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237181	NM_015166.4(MLC1):c.178-179G>T	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1154138	NM_015166.4(MLC1):c.178-9G>A	LOC125446261, MLC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112240	NM_015166.4(MLC1):c.231G>A (p.Pro77=)	MLC1, LOC125446261	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1107992	NM_015166.4(MLC1):c.246C>T (p.Tyr82=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1080272	NM_015166.4(MLC1):c.198G>C (p.Ser66=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 990764	NM_015166.4(MLC1):c.59G>A (p.Arg20Gln)	MLC1 (R20Q)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990763	NM_015166.4(MLC1):c.198G>A (p.Ser66=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990762	NM_015166.4(MLC1):c.532A>G (p.Met178Val)	MLC1 (M126V +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 990761	NM_015166.4(MLC1):c.991G>T (p.Val331Phe)	MLC1 (V252F +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 916730	NM_015166.4(MLC1):c.256G>C (p.Ala86Pro)	LOC125446261, MLC1 (A86P +1 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 872980	NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)	LOC125446261, MLC1 (C61*)	Single nucleotide variant (nonsense +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GPathogenic
Select item 795307	NM_015166.4(MLC1):c.222C>T (p.Asn74=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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 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 548492	NM_015166.4(MLC1):c.404T>C (p.Leu135Pro)	MLC1 (L135P +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts	GUncertain significance
Select item 262463	NM_015166.4(MLC1):c.979G>A (p.Val327Met)	MLC1 (V327M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 262457	NM_015166.4(MLC1):c.216G>A (p.Leu72=)	LOC125446261, MLC1	Single nucleotide variant (synonymous variant +3 more)	not specified +2 more	GBenign
Select item 202208	NM_015166.4(MLC1):c.223del (p.Val75fs)	LOC125446261, MLC1 (V75fs)	Deletion (frameshift variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GPathogenic
Select item 68796	NM_015166.4(MLC1):c.736A>C (p.Ser246Arg)	MLC1 (S246R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 68795	NM_015166.4(MLC1):c.733G>C (p.Ala245Pro)	MLC1 (A245P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 68793	NM_015166.4(MLC1):c.373T>C (p.Cys125Arg)	MLC1 (C125R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 68792	NM_015166.4(MLC1):c.353C>G (p.Thr118Arg)	MLC1 (T118R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
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 68790	NM_015166.4(MLC1):c.240G>A (p.Met80Ile)	LOC125446261, MLC1 (M80I +1 more)	Single nucleotide variant (missense variant +3 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GConflicting classifications of pathogenicity
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 21526	NM_015166.4(MLC1):c.925C>A (p.Leu309Met)	MLC1 (L309M +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	Gnot provided
Select item 21523	NM_015166.4(MLC1):c.298_423+108del	MLC1	Deletion (splice acceptor variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	Gnot provided
Select item 21522	NM_015166.4(MLC1):c.178-10T>A	MLC1, LOC125446261	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 89