ALG2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 364195	NM_033087.4(ALG2):c.1470_1472del	ALG2	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 364197	NM_033087.4(ALG2):c.*1256AT[2]	ALG2	Microsatellite (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 364199	NM_033087.4(ALG2):c.*513dup	ALG2	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 1090092	NM_033087.4(ALG2):c.1248A>G (p.Val416=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 968577	NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)	ALG2 (V416L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1059228	NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)	ALG2 (K413N)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1937186	NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)	ALG2 (T412N)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1392599	NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)	ALG2 (Y410*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1136994	NM_033087.4(ALG2):c.1230T>C (p.Tyr410=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1476100	NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)	ALG2 (Y410H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 952342	NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)	ALG2 (R409Q)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GConflicting classifications of pathogenicity
Select item 3284166	NM_033087.4(ALG2):c.1219C>T (p.Leu407Phe)	ALG2 (L407F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1039238	NM_033087.4(ALG2):c.1218G>C (p.Gln406His)	ALG2 (Q406H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 533480	NM_033087.4(ALG2):c.1200T>C (p.Pro400=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2498382	NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)	ALG2 (F398S)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14	GLikely pathogenic
Select item 1637511	NM_033087.4(ALG2):c.1191A>G (p.Lys397=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2954345	NM_033087.4(ALG2):c.1185G>A (p.Lys395=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2145004	NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)	ALG2 (V394L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 566269	NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)	ALG2 (R393G)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 364203	NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)	ALG2 (A392T)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1053713	NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)	ALG2 (M386fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 967890	NM_033087.4(ALG2):c.1156A>G (p.Met386Val)	ALG2 (M386V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 3053311	NM_033087.4(ALG2):c.1155C>G (p.Thr385=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-related disorder	GLikely benign
Select item 1402116	NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)	ALG2 (T385A)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 947697	NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)	ALG2 (A384T)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2082969	NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)	ALG2 (S381T)	Inversion (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2146428	NM_033087.4(ALG2):c.1133G>A (p.Arg378His)	ALG2 (R378H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 265036	NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	ALG2 (R378C)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 1086740	NM_033087.4(ALG2):c.1116A>G (p.Ala372=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1027185	NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)	ALG2 (A372V)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2077319	NM_033087.4(ALG2):c.1110A>G (p.Ser370=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1123551	NM_033087.4(ALG2):c.1110A>C (p.Ser370=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2925808	NM_033087.4(ALG2):c.1107C>T (p.Phe369=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 96236	NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)	ALG2 (V367A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 784859	NM_033087.4(ALG2):c.1098G>A (p.Pro366=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 940868	NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)	ALG2 (D365E)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2606733	NM_033087.4(ALG2):c.1085G>C (p.Cys362Ser)	ALG2 (C362S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 948970	NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)	ALG2 (F360L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2928170	NM_033087.4(ALG2):c.1068T>C (p.Ser356=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1031029	NM_033087.4(ALG2):c.1064A>G (p.His355Arg)	ALG2 (H355R)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation	GUncertain significance
Select item 2111885	NM_033087.4(ALG2):c.1062C>T (p.Asp354=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2935260	NM_033087.4(ALG2):c.1056C>G (p.Ser352=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 464893	NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)	ALG2 (S352fs)	Indel (frameshift variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1021130	NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)	ALG2	Insertion (inframe_indel +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1463681	NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)	ALG2 (E351Q)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 759524	NM_033087.4(ALG2):c.1047C>T (p.Pro349=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2699	NM_033087.4(ALG2):c.1040del (p.Gly347fs)	ALG2 (G347fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GPathogenic/Likely pathogenic
Select item 387911	NM_033087.4(ALG2):c.1038G>A (p.Ser346=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1480996	NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)	ALG2 (S346L)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 664201	NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)	ALG2 (V344L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1519928	NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)	ALG2 (I342T)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 796346	NM_033087.4(ALG2):c.1020A>G (p.Pro340=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 3238845	NM_033087.4(ALG2):c.1016G>C (p.Cys339Ser)	ALG2 (C339S)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation	GUncertain significance
Select item 1714929	NM_033087.4(ALG2):c.1014G>C (p.Gln338His)	ALG2 (Q338H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1425983	NM_033087.4(ALG2):c.1014G>T (p.Gln338His)	ALG2 (Q338H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1943228	NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)	ALG2 (M335I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2285498	NM_033087.4(ALG2):c.991C>G (p.Pro331Ala)	ALG2 (P331A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2945711	NM_033087.4(ALG2):c.984C>G (p.Gly328=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 772130	NM_033087.4(ALG2):c.981T>C (p.Phe327=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2015813	NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)	ALG2 (E325G)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2027307	NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)	ALG2 (N324S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 851540	NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)	ALG2 (S323I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 2155640	NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)	ALG2 (P322T)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1386534	NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)	ALG2 (T321K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 738549	NM_033087.4(ALG2):c.960C>T (p.Tyr320=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1445584	NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)	ALG2 (Y320C)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2929735	NM_033087.4(ALG2):c.957T>C (p.Leu319=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2007004	NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)	ALG2 (C317R)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 706183	NM_033087.4(ALG2):c.948G>A (p.Thr316=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1376852	NM_033087.4(ALG2):c.947C>T (p.Thr316Met)	ALG2 (T316M)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1041171	NM_033087.4(ALG2):c.945C>T (p.Cys315=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 757884	NM_033087.4(ALG2):c.936C>T (p.Leu312=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2939205	NM_033087.4(ALG2):c.935T>A (p.Leu312His)	ALG2 (L312H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 364206	NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)	ALG2 (L312F)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2065142	NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)	ALG2 (S310Y)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 1969460	NM_033087.4(ALG2):c.921_922del (p.Lys308fs)	ALG2 (K308fs)	Deletion (frameshift variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2197420	NM_033087.4(ALG2):c.918A>G (p.Lys306=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1159987	NM_033087.4(ALG2):c.894C>G (p.Thr298=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 3111219	NM_033087.4(ALG2):c.887A>G (p.Tyr296Cys)	ALG2 (Y296C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1982980	NM_033087.4(ALG2):c.873C>T (p.Ser291=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2163639	NM_033087.4(ALG2):c.841T>C (p.Tyr281His)	ALG2 (Y281H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1411867	NM_033087.4(ALG2):c.839A>G (p.His280Arg)	ALG2 (H280R)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2008872	NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)	ALG2 (E272K)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 705551	NM_033087.4(ALG2):c.813C>T (p.Asp271=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2288963	NM_033087.4(ALG2):c.796G>A (p.Val266Met)	ALG2 (V266M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1507401	NM_033087.4(ALG2):c.795C>G (p.Ile265Met)	ALG2 (I265M)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1119672	NM_033087.4(ALG2):c.795C>A (p.Ile265=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2544099	NM_033087.4(ALG2):c.788A>G (p.His263Arg)	ALG2 (H263R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 660985	NM_033087.4(ALG2):c.784G>T (p.Val262Phe)	ALG2 (V262F)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1092733	NM_033087.4(ALG2):c.783G>A (p.Arg261=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1491862	NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)	ALG2 (T255I)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 941824	NM_033087.4(ALG2):c.760T>G (p.Leu254Val)	ALG2 (L254V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 96238	NM_033087.4(ALG2):c.760T>C (p.Leu254=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1676197	NM_033087.4(ALG2):c.752G>T (p.Arg251Leu)	ALG2	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation	GPathogenic
Select item 1383932	NM_033087.4(ALG2):c.752G>A (p.Arg251His)	ALG2 (R251H)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2116214	NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)	ALG2 (R251C)	Indel (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2115397	NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)	ALG2 (Q249R)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1509418	NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)	ALG2 (E245K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2162760	NM_033087.4(ALG2):c.729A>C (p.Ala243=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 464898	NM_033087.4(ALG2):c.729A>T (p.Ala243=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign

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