ClinVar for MedGen (Select 334618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3068284	NM_033087.4(ALG2):c.215_216insTCCCC (p.Asp73fs)	ALG2 (D73fs)	Insertion (frameshift variant +1 more)	ALG2-congenital disorder of glycosylation	GUncertain significance
Select item 3064139	NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)	ALG2 (D73fs)	Indel (frameshift variant +1 more)	ALG2-congenital disorder of glycosylation	GLikely pathogenic
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 2952334	NM_033087.4(ALG2):c.228G>C (p.Pro76=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2951515	NM_033087.4(ALG2):c.297C>G (p.Leu99=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2951297	NM_033087.4(ALG2):c.246C>T (p.Gly82=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2946819	NM_033087.4(ALG2):c.309C>T (p.Phe103=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 2944522	NM_033087.4(ALG2):c.453T>A (p.Leu151=)	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 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 2933117	NM_033087.4(ALG2):c.348+7C>T	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2931626	NM_033087.4(ALG2):c.348+10C>A	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2930341	NM_033087.4(ALG2):c.18C>T (p.Gly6=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 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 2927639	NM_033087.4(ALG2):c.348+10C>T	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2927027	NM_033087.4(ALG2):c.195G>A (p.Glu65=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2926459	NM_033087.4(ALG2):c.348+18C>T	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +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 2922973	NM_033087.4(ALG2):c.213C>A (p.Ala71=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2922504	NM_033087.4(ALG2):c.216G>C (p.Gly72=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 2415249	NM_033087.4(ALG2):c.81C>T (p.Gly27=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2199381	NM_033087.4(ALG2):c.348+20G>A	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 2196083	NM_033087.4(ALG2):c.147C>G (p.Ile49Met)	ALG2 (I49M)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2189821	NM_033087.4(ALG2):c.351G>T (p.Val117=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2179328	NM_033087.4(ALG2):c.96G>A (p.Leu32=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2176761	NM_033087.4(ALG2):c.42G>A (p.Lys14=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2173387	NM_033087.4(ALG2):c.324G>A (p.Glu108=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2167718	NM_033087.4(ALG2):c.283G>A (p.Val95Ile)	ALG2 (V95I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2163830	NM_033087.4(ALG2):c.135T>C (p.Cys45=)	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 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 2156916	NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)	ALG2 (F184L)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 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 2149129	NM_033087.4(ALG2):c.3G>A (p.Met1Ile)	ALG2 (M1I)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2147977	NM_033087.4(ALG2):c.57C>T (p.Phe19=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2147403	NM_033087.4(ALG2):c.264C>T (p.Val88=)	ALG2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
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 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 2143174	NM_033087.4(ALG2):c.235C>G (p.Leu79Val)	ALG2 (L79V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2124032	NM_033087.4(ALG2):c.144G>A (p.Lys48=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 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 2098610	NM_033087.4(ALG2):c.666G>A (p.Lys222=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2097240	NM_033087.4(ALG2):c.282G>A (p.Met94Ile)	ALG2 (M94I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2090928	NM_033087.4(ALG2):c.328G>C (p.Asp110His)	ALG2 (D110H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2088974	NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)	ALG2 (L151P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2087827	NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)	ALG2 (D106N)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +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 2080466	NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)	ALG2 (R128G)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2079332	NM_033087.4(ALG2):c.660C>A (p.Val220=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 2069581	NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)	ALG2 (R130del)	Microsatellite (inframe_deletion +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2067832	NM_033087.4(ALG2):c.108G>A (p.Ala36=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
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 2056659	NM_033087.4(ALG2):c.327C>T (p.Phe109=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 2047376	NM_033087.4(ALG2):c.5C>T (p.Ala2Val)	ALG2 (A2V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 2041734	NM_033087.4(ALG2):c.308del (p.Phe103fs)	ALG2 (F103fs)	Deletion (frameshift 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 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 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 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 2004512	NM_033087.4(ALG2):c.306G>C (p.Leu102=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1999822	NM_033087.4(ALG2):c.97G>T (p.Val33Leu)	ALG2 (V33L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1999036	NM_033087.4(ALG2):c.132del (p.Cys45fs)	ALG2 (C45fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1985027	NM_033087.4(ALG2):c.118C>T (p.Leu40=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 1979617	NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)	ALG2 (C120Y)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 1972726	NM_033087.4(ALG2):c.337G>A (p.Val113Met)	ALG2 (V113M)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 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 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 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 1934780	NM_033087.4(ALG2):c.691A>G (p.Ile231Val)	ALG2 (I231V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1927520	NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)	ALG2	Duplication (inframe_insertion +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1924115	NM_033087.4(ALG2):c.675A>G (p.Lys225=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1911934	NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)	ALG2 (F60Y)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1911041	NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)	ALG2 (T187I)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1910139	NM_033087.4(ALG2):c.147C>T (p.Ile49=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1896351	NM_033087.4(ALG2):c.34G>C (p.Val12Leu)	ALG2 (V12L)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GUncertain significance
Select item 1805321	NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)	ALG2 (A98T)	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 1714421	NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)	ALG2 (D197G)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GUncertain significance
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 1666006	NM_033087.4(ALG2):c.183C>T (p.Ala61=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
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 1630933	NM_033087.4(ALG2):c.33G>A (p.Ser11=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1625482	NM_033087.4(ALG2):c.348+8G>C	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1615181	NM_033087.4(ALG2):c.426G>C (p.Leu142=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1607434	NM_033087.4(ALG2):c.213C>T (p.Ala71=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1593024	NM_033087.4(ALG2):c.657A>C (p.Leu219=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1589256	NM_033087.4(ALG2):c.198A>G (p.Leu66=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1582150	NM_033087.4(ALG2):c.348+20G>C	ALG2	Single nucleotide variant (intron variant)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1580623	NM_033087.4(ALG2):c.69C>T (p.Asp23=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1580122	NM_033087.4(ALG2):c.6G>A (p.Ala2=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 14 +1 more	GLikely benign
Select item 1575139	NM_033087.4(ALG2):c.70C>T (p.Leu24=)	ALG2	Single nucleotide variant (synonymous variant +1 more)	ALG2-congenital disorder of glycosylation +1 more	GLikely benign

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