"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ALG1"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1669865	NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)	ALG1 (A3D)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 193419	NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)	ALG1 (C5*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 702826	NM_019109.5(ALG1):c.21C>T (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 790875	NM_019109.5(ALG1):c.22C>T (p.Leu8=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1448056	NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)	ALG1, LOC130058383 (A10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593009	NM_019109.5(ALG1):c.29C>T (p.Ala10Val)	ALG1, LOC130058383 (A10V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1663777	NM_019109.5(ALG1):c.39G>A (p.Leu13=)	ALG1, LOC130058383	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1423129	NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)	ALG1, LOC130058383	Microsatellite (inframe_insertion)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1663933	NM_019109.5(ALG1):c.126C>T (p.Asp42=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 471232	NC_000016.10:g.5071991C>T	ALG1, LOC130058384	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 1426270	NM_019109.5(ALG1):c.176A>G (p.His59Arg)	ALG1, LOC130058384 (H59R)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1254626	NM_019109.5(ALG1):c.176A>C (p.His59Pro)	ALG1, LOC130058384 (H59P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1386240	NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)	ALG1, LOC130058384 (F68Y)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1347533	NM_019109.5(ALG1):c.208+14_208+17dup	ALG1, LOC130058384	Duplication (intron variant)	ALG1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 511137	NM_019109.5(ALG1):c.286+10C>T	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1356787	NM_019109.5(ALG1):c.296G>A (p.Arg99Gln)	ALG1 (R99Q)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1634933	NM_019109.5(ALG1):c.309C>T (p.Tyr103=)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1504098	NM_019109.5(ALG1):c.335T>C (p.Met112Thr)	ALG1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 739528	NM_019109.5(ALG1):c.361A>C (p.Arg121=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 512100	NM_019109.5(ALG1):c.384T>C (p.Phe128=)	ALG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 95936	NM_019109.5(ALG1):c.390+13C>T	ALG1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 389035	NM_019109.5(ALG1):c.391-15C>G	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1405610	NM_019109.5(ALG1):c.401G>C (p.Gly134Ala)	ALG1 (G23A +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1511378	NM_019109.5(ALG1):c.430G>A (p.Val144Met)	ALG1 (V144M +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1585939	NM_019109.5(ALG1):c.477T>C (p.Tyr159=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1616733	NM_019109.5(ALG1):c.480C>T (p.Gly160=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1356619	NM_019109.5(ALG1):c.539+3G>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 382061	NM_019109.5(ALG1):c.539+16G>A	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1673303	NM_019109.5(ALG1):c.540-12C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 384255	NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)	ALG1 (F74C)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 513946	NM_019109.5(ALG1):c.579G>A (p.Leu193=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1454830	NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)	ALG1 (R89* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 1510900	NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)	ALG1 (L203P +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1643027	NM_019109.5(ALG1):c.630-19C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GBenign/Likely benign
Select item 1593140	NM_019109.5(ALG1):c.639C>T (p.Thr213=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1597310	NM_019109.5(ALG1):c.648C>T (p.Asp216=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 754169	NM_019109.5(ALG1):c.654C>T (p.Pro218=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1479331	NM_019109.5(ALG1):c.715A>C (p.Ser239Arg)	ALG1 (S239R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1575844	NM_019109.5(ALG1):c.726T>C (p.Ser242=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1001041	NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)	ALG1 (P132L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1447380	NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)	ALG1 (R136C +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1637836	NM_019109.5(ALG1):c.741-13del	ALG1	Deletion (intron variant)	ALG1-congenital disorder of glycosylation	GBenign/Likely benign
Select item 1632929	NM_019109.5(ALG1):c.741-13T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1434020	NM_019109.5(ALG1):c.764C>T (p.Thr255Met)	ALG1 (T144M +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1449859	NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)	ALG1 (R257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 970270	NM_019109.5(ALG1):c.782C>T (p.Thr261Met)	ALG1 (T150M +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1634667	NM_019109.5(ALG1):c.801C>T (p.Ser267=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1351723	NM_019109.5(ALG1):c.812C>T (p.Thr271Met)	ALG1 (T271M +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1515462	NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)	ALG1 (R272C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1442856	NM_019109.5(ALG1):c.815G>A (p.Arg272His)	ALG1 (R272H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1490456	NM_019109.5(ALG1):c.820C>T (p.Arg274Cys)	ALG1 (R274C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 377012	NM_019109.5(ALG1):c.835C>G (p.Leu279Val)	ALG1 (L279V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95937	NM_019109.5(ALG1):c.840G>C (p.Leu280=)	ALG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 690317	NM_019109.5(ALG1):c.841G>T (p.Val281Phe)	ALG1 (V170F +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 382580	NM_019109.5(ALG1):c.867C>T (p.Asp289=)	ALG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 939983	NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)	ALG1 (K301E +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 382798	NM_019109.5(ALG1):c.902-20G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1477684	NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)	ALG1 (N311K +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1364074	NM_019109.5(ALG1):c.941C>T (p.Ser314Phe)	ALG1 (S203F +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 682525	NM_019109.5(ALG1):c.961+8C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1061103	NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)	ALG1 (K211R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1623577	NM_019109.5(ALG1):c.978G>A (p.Arg326=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1346435	NM_019109.5(ALG1):c.1001A>G (p.His334Arg)	ALG1 (H223R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1653254	NM_019109.5(ALG1):c.1050C>T (p.Ala350=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1431547	NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)	ALG1 (L245V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 95931	NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	ALG1 (A249V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 381171	NM_019109.5(ALG1):c.1080G>A (p.Ala360=)	ALG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1529323	NM_019109.5(ALG1):c.1084C>T (p.Leu362=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1566745	NM_019109.5(ALG1):c.1140G>A (p.Val380=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 871520	NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)	ALG1 (M271T +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 690331	NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)	ALG1 (G273R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1348735	NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)	ALG1 (V389A +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 95934	NM_019109.5(ALG1):c.1187+1G>A	ALG1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 224118	NM_019109.5(ALG1):c.1187+3A>G	ALG1	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 194107	NM_019109.5(ALG1):c.1188-2A>G	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1437797	NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)	ALG1 (D412N +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1603492	NM_019109.5(ALG1):c.1263+8C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1530179	NM_019109.5(ALG1):c.1263+18C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 773576	NM_019109.5(ALG1):c.1264-9T>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 382966	NM_019109.5(ALG1):c.1281T>C (p.Phe427=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1408496	NM_019109.5(ALG1):c.1293G>A (p.Ala431=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1475548	NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)	ALG1, EEF2KMT (R442W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1436490	NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)	ALG1, EEF2KMT (R442Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1405704	NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)	ALG1, EEF2KMT (D352Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1467083	NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1179164	GRCh37/hg19 16p13.3(chr16:5121789-5133778)	ALG1	Copy number loss	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 1179118	GRCh37/hg19 16p13.3(chr16:5129043-5129828)	ALG1	Copy number loss	ALG1-congenital disorder of glycosylation	GPathogenic

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Items: 88