ClinVar for MedGen (Select 1826136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3064991	NM_000854.1(GSTT2):c.200+1G>A	GSTT2, GSTT2B	Single nucleotide variant (splice donor 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 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 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 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 2671764	NM_015166.4(MLC1):c.493C>T (p.Arg165Trp)	MLC1 (R113W +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
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 2502878	NM_015166.4(MLC1):c.489dup (p.Ala164fs)	MLC1 (A112fs +4 more)	Duplication (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 2501703	NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)	MLC1 (S187R +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely 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 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 2057980	NM_015166.4(MLC1):c.101C>T (p.Pro34Leu)	MLC1 (P34L)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GUncertain significance
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 1806366	NM_015166.4(MLC1):c.714+5G>A	MLC1	Single nucleotide variant (intron variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 1726207	NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)	MLC1 (S120* +4 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1725746	NM_015166.4(MLC1):c.592del (p.Tyr198fs)	MLC1 (Y119fs +4 more)	Deletion (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1725466	NM_015166.4(MLC1):c.848del (p.Ile283fs)	MLC1 (I204fs +5 more)	Deletion (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1724607	NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)	MLC1 (K219* +5 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1724525	NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)	MLC1	Insertion (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1724083	NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)	MLC1 (W128* +2 more)	Single nucleotide variant (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 1705504	NM_015166.4(MLC1):c.626C>A (p.Ala209Asp)	MLC1 (A130D +4 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
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 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 1691319	NM_015166.4(MLC1):c.736del (p.Ser246fs)	MLC1 (S167fs +4 more)	Deletion (frameshift variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic
Select item 1582595	NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=)	HEPACAM	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1510664	NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys)	HEPACAM (E162K)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 2A +3 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 +2 more	GPathogenic/Likely pathogenic
Select item 1402452	NM_015166.4(MLC1):c.329A>G (p.Asn110Ser)	MLC1 (N110S +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 1367723	NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp)	HEPACAM (E32D)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +3 more	GUncertain significance
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 1333243	NM_015166.4(MLC1):c.286G>T (p.Val96Leu)	MLC1 (V17L +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 1332811	NM_015166.4(MLC1):c.368C>T (p.Thr123Ile)	MLC1 (T123I +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GPathogenic
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 1321172	NM_015166.4(MLC1):c.1059+13C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 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 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
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 1187211	NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp)	HEPACAM (R73W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1172983	NM_015166.4(MLC1):c.525+153G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172982	NM_015166.4(MLC1):c.526-118C>T	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 1172980	NM_015166.4(MLC1):c.771+61T>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 1172978	NM_015166.4(MLC1):c.771+160T>C	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 1172957	NM_015166.4(MLC1):c.772-110A>G	MLC1	Single nucleotide variant (intron variant)	not provided +1 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 1172955	NM_015166.4(MLC1):c.894+52T>C	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 1172953	NM_015166.4(MLC1):c.894+194G>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 1172951	NM_015166.4(MLC1):c.895-139G>A	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1165889	NM_015166.4(MLC1):c.1059+16G>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 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 1071728	NM_015166.4(MLC1):c.908_914del (p.Val303fs)	MLC1 (V224fs +5 more)	Deletion (frameshift variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	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 1066769	NM_015166.4(MLC1):c.597+2T>A	MLC1	Single nucleotide variant (splice donor variant)	not provided +1 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 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 983683	NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)	MLC1 (L114* +2 more)	Single nucleotide variant (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 983682	NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)	MLC1 (L126* +2 more)	Single nucleotide variant (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 983681	NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)	MLC1 (C101* +2 more)	Single nucleotide variant (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 983680	NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)	MLC1 (S108* +2 more)	Single nucleotide variant (nonsense +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 983679	NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)	MLC1 (K121* +4 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely 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 983677	NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)	MLC1 (S201* +5 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GLikely pathogenic
Select item 972489	NM_015166.4(MLC1):c.337_353delinsG (p.Ile113fs)	MLC1 (I34fs +2 more)	Indel (frameshift variant +2 more)	not provided	GPathogenic
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 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 902878	NM_015166.3(MLC1):c.-534G>A	MLC1	Single nucleotide variant (5 prime UTR variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902877	NM_015166.3(MLC1):c.-487G>A	MLC1	Single nucleotide variant (5 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902826	NM_015166.4(MLC1):c.1050G>T (p.Leu350=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902825	NM_015166.4(MLC1):c.1060-9C>T	MLC1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 902824	NM_015166.4(MLC1):c.*12G>A	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GBenign
Select item 902766	NM_015166.4(MLC1):c.*717C>T	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902765	NM_015166.4(MLC1):c.*730G>A	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902764	NM_015166.4(MLC1):c.*827G>C	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance
Select item 902763	NM_015166.4(MLC1):c.*829C>T	MLC1	Single nucleotide variant (3 prime UTR variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1	GUncertain significance

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