"Ambry Genetics"[submitter] AND "ALG2"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 1422111	NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)	ALG2 (T206I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2348776	NM_033087.4(ALG2):c.599A>G (p.Tyr200Cys)	ALG2 (Y200C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1362000	NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)	ALG2 (G168S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 364209	NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)	ALG2 (P158T)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 464896	NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)	ALG2 (D148G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2314194	NM_033087.4(ALG2):c.430C>T (p.Leu144Phe)	ALG2 (L144F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 533478	NM_033087.4(ALG2):c.399C>G (p.Ile133Met)	ALG2 (I133M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3111190	NM_033087.4(ALG2):c.385C>T (p.Arg129Trp)	ALG2 (R129W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2241181	NM_033087.4(ALG2):c.343G>A (p.Asp115Asn)	ALG2 (D115N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2280328	NM_033087.4(ALG2):c.314C>T (p.Ala105Val)	ALG2 (A105V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 657644	NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)	ALG2 (G78R)	Single nucleotide variant (missense variant +1 more)	See cases +4 more	GUncertain significance
Select item 917751	NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)	ALG2 (A71G)	Single nucleotide variant (missense variant +1 more)	ALG2-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 1380372	NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)	ALG2 (F60C)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 3111150	NM_033087.4(ALG2):c.125C>G (p.Ala42Gly)	ALG2 (A42G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 966199	NM_033087.4(ALG2):c.107C>T (p.Ala36Val)	ALG2 (A36V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 598441	NM_033087.4(ALG2):c.97G>C (p.Val33Leu)	ALG2 (V33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2590294	NM_033087.4(ALG2):c.38C>T (p.Pro13Leu)	ALG2 (P13L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 856875	NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)	ALG2 (R7Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1319358	NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)	ALG2 (R7W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1464526	NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)	ALG2 (G6R)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 2219703	NM_033087.4(ALG2):c.15G>C (p.Gln5His)	ALG2 (Q5H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 38