ClinVar for Gene (Select 10195) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362532	NM_005787.6(ALG3):c.-313A>G	ALG3, LOC129938049 (N9D)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 3343203	NM_005787.6(ALG3):c.1060C>A (p.Arg354Ser)	ALG3 (R306S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3335968	NM_005787.6(ALG3):c.262T>C (p.Tyr88His)	ALG3 (Y40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284185	NM_005787.6(ALG3):c.244A>G (p.Ile82Val)	ALG3 (I34V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251910	NM_005787.6(ALG3):c.116C>T (p.Pro39Leu)	ALG3 (P39L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3251416	NM_005787.6(ALG3):c.67C>T (p.Gln23Ter)	ALG3 (Q23*)	Single nucleotide variant (nonsense +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3076030	NM_005787.6(ALG3):c.921C>A (p.Cys307Ter)	ALG3 (C259* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 3064907	NM_005787.6(ALG3):c.664CTC[1] (p.Leu223del)	ALG3 (L175del +2 more)	Microsatellite (inframe_deletion +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 3051622	NM_005787.6(ALG3):c.*5C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-related disorder	GLikely benign
Select item 3050161	NM_001006941.2(ALG3):c.15G>A (p.Gln5=)	ALG3, LOC129938049	Single nucleotide variant (synonymous variant)	ALG3-related disorder	GLikely benign
Select item 3047306	NM_005787.6(ALG3):c.540G>A (p.Val180=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-related disorder	GLikely benign
Select item 3047002	NM_005787.6(ALG3):c.186C>T (p.His62=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-related disorder	GLikely benign
Select item 3046668	NM_005787.6(ALG3):c.54G>A (p.Glu18=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-related disorder	GLikely benign
Select item 3033031	NM_005787.6(ALG3):c.1154+5C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related disorder	GLikely benign
Select item 2977592	NM_005787.6(ALG3):c.918C>T (p.Leu306=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2977544	NM_005787.6(ALG3):c.196+16G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2896991	NM_005787.6(ALG3):c.445-17C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2882534	NM_005787.6(ALG3):c.888C>T (p.Ala296=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2871802	NM_005787.6(ALG3):c.297-11T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2838857	NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)	ALG3 (L20F)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2780035	NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)	ALG3 (W396* +2 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2772514	NM_005787.6(ALG3):c.297-19A>G	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2741581	NM_005787.6(ALG3):c.1242C>T (p.Ala414=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2741374	NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)	ALG3 (Q16fs)	Duplication (frameshift variant +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 2734602	NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)	ALG3 (R306C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2732576	NM_005787.6(ALG3):c.456C>T (p.Phe152=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2721808	NM_005787.6(ALG3):c.717T>G (p.Ala239=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2716661	NM_005787.6(ALG3):c.1009+14T>G	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2696660	NM_005787.6(ALG3):c.933-20_933-17del	ALG3	Deletion (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2671826	NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)	ALG3, EEF1AKMT4 +3 more (R115C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654312	NM_005787.6(ALG3):c.849C>T (p.Leu283=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2529678	NM_005787.6(ALG3):c.59T>A (p.Leu20His)	ALG3 (L20H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2500527	NM_005787.6(ALG3):c.359A>G (p.Asp120Gly)	ALG3 (D120G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 2407678	NM_005787.6(ALG3):c.529G>A (p.Val177Met)	ALG3 (V129M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283900	NM_005787.6(ALG3):c.563T>A (p.Leu188His)	ALG3 (L140H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245887	NM_005787.6(ALG3):c.329G>T (p.Gly110Val)	ALG3 (G110V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2232782	NM_005787.6(ALG3):c.857A>T (p.His286Leu)	ALG3 (H251L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231151	NM_005787.6(ALG3):c.604A>G (p.Ser202Gly)	ALG3 (S154G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229899	NM_005787.6(ALG3):c.21A>C (p.Lys7Asn)	ALG3 (K7N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2207413	NM_005787.6(ALG3):c.526C>T (p.Pro176Ser)	ALG3 (P176S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187573	NM_005787.6(ALG3):c.606-18C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2186442	NM_005787.6(ALG3):c.1014C>A (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2181576	NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)	ALG3 (R27G +1 more)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2160332	NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)	ALG3 (E18G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159626	NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)	ALG3 (C404W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151586	NM_005787.6(ALG3):c.1254G>A (p.Leu418=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2148388	NM_005787.6(ALG3):c.639C>A (p.Leu213=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2136969	NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)	ALG3 (R122C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2111850	NM_005787.6(ALG3):c.579C>T (p.Arg193=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2111664	NM_005787.6(ALG3):c.296+20T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2071696	NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)	ALG3 (R330C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2067265	NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)	ALG3 (C21F)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2066390	NM_005787.6(ALG3):c.50C>T (p.Ala17Val)	ALG3 (A17V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2060733	NM_005787.6(ALG3):c.945T>C (p.Ser315=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2059983	NM_005787.6(ALG3):c.890A>G (p.His297Arg)	ALG3 (H249R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058076	NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2052594	NM_005787.6(ALG3):c.457G>A (p.Val153Ile)	ALG3 (V153I +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2006664	NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)	ALG3 (S267N +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2000151	NM_005787.6(ALG3):c.1188dup (p.Asn397fs)	ALG3 (N397fs +1 more)	Duplication (frameshift variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1992210	NM_005787.6(ALG3):c.30G>C (p.Arg10=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1982358	NM_005787.6(ALG3):c.33C>A (p.Ser11=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1982162	NM_005787.6(ALG3):c.1014C>T (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1971332	NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)	ALG3 (G12R)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1957110	NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)	ALG3 (R181C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1951408	NM_005787.6(ALG3):c.11G>T (p.Gly4Val)	ALG3 (G4V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1940955	NM_005787.6(ALG3):c.932+10G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1919895	NM_005787.6(ALG3):c.445-19T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1909972	NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)	ALG3 (C21G)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1902921	NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)	ALG3 (S116T +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1805323	NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)	ALG3 (F120S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1716901	NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)	ALG3 (L34P)	Single nucleotide variant (synonymous variant +3 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1704684	NM_005787.6(ALG3):c.343A>G (p.Thr115Ala)	ALG3 (T115A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1702746	NM_001006941.2(ALG3):c.52+9G>A	ALG3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695520	NM_005787.6(ALG3):c.668_669del (p.Leu223fs)	ALG3 (L175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1678059	NM_005787.6(ALG3):c.797G>A (p.Arg266His)	ALG3 (R218H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1624305	NM_005787.6(ALG3):c.605+9C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1608638	NM_005787.6(ALG3):c.18G>A (p.Arg6=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1592152	NM_005787.6(ALG3):c.196+19del	ALG3	Deletion (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1572500	NM_005787.6(ALG3):c.296+13A>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1571109	NM_005787.6(ALG3):c.312C>T (p.Phe104=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1556257	NM_005787.6(ALG3):c.321C>T (p.Ile107=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1519679	NM_005787.6(ALG3):c.863C>T (p.Ala288Val)	ALG3 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1487042	NM_005787.6(ALG3):c.929A>G (p.His310Arg)	ALG3 (H310R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1486904	NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)	ALG3 (R278K +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1437563	NM_005787.6(ALG3):c.812A>G (p.His271Arg)	ALG3 (H223R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1428388	NM_005787.6(ALG3):c.16C>T (p.Arg6Trp)	ALG3 (R6W)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance

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