ClinVar for MedGen (Select 419692) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244665	NC_000011.9:g.(?_77830208)_(77835280_?)dup	ALG8	Duplication	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 3244664	NC_000011.9:g.(?_77850520)_(77850634_?)del	ALG8	Deletion	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 3022068	NM_024079.5(ALG8):c.1038+16A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 3019396	NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)	ALG8 (R186C +8 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 3013778	NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)	ALG8 (A18S)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 3005393	NM_024079.5(ALG8):c.1347C>T (p.Phe449=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 3002420	NM_024079.5(ALG8):c.674-20A>C	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2996014	NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)	ALG8 (M249R +16 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2987211	NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)	ALG8 (A120T +8 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2983747	NM_024079.5(ALG8):c.899-13A>T	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2982294	NM_024079.5(ALG8):c.824del (p.Gly275fs)	ALG8 (G275fs)	Deletion (frameshift variant)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 2981802	NM_024079.5(ALG8):c.96-15A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2978547	NM_024079.5(ALG8):c.898+10C>T	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2977771	NM_024079.5(ALG8):c.1353dup (p.Glu452fs)	ALG8 (E452fs)	Duplication (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 2977570	NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)	ALG8	Duplication (nonsense +2 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2964438	NM_024079.5(ALG8):c.554A>G (p.His185Arg)	ALG8 (H13R +7 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2956772	NM_024079.5(ALG8):c.824G>T (p.Gly275Val)	ALG8 (G103V +9 more)	Single nucleotide variant (missense variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2911316	NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)	ALG8 (P136S +9 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2910713	NM_024079.5(ALG8):c.438G>A (p.Ser146=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2903140	NM_024079.5(ALG8):c.368+13C>A	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2901588	NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)	ALG8 (I171T +9 more)	Single nucleotide variant (missense variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2896685	NM_024079.5(ALG8):c.1443C>T (p.Thr481=)	ALG8 (P331L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2889819	NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)	ALG8 (L116F +9 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2887197	NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)	ALG8 (I73T +5 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2886369	NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)	ALG8 (A301P +15 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2863445	NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)	ALG8 (T35A +1 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2850349	NM_024079.5(ALG8):c.192G>A (p.Thr64=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2804776	NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)	ALG8 (V350I +18 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2796277	NM_024079.5(ALG8):c.368+1G>A	ALG8	Single nucleotide variant (splice donor variant)	ALG8 congenital disorder of glycosylation	GLikely pathogenic
Select item 2767209	NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)	ALG8 (S271L +16 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2750547	NM_024079.5(ALG8):c.793G>A (p.Val265Ile)	ALG8 (V266I +10 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2739141	NM_024079.5(ALG8):c.757T>G (p.Leu253Val)	ALG8 (L254V +8 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2718349	NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)	ALG8 (R123C +4 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2716425	NM_024079.5(ALG8):c.354G>A (p.Val118=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2697789	NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)	ALG8 (R108I +4 more)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2694111	NM_024079.5(ALG8):c.1116C>T (p.Ser372=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2441681	NM_024079.5(ALG8):c.97C>T (p.His33Tyr)	ALG8 (H33Y)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2196753	NM_024079.5(ALG8):c.1020C>T (p.Cys340=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2181408	NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)	ALG8 (P425Q)	Single nucleotide variant (missense variant)	ALG8-related disorder +1 more	GUncertain significance
Select item 2177775	NM_024079.5(ALG8):c.1277-16del	ALG8	Deletion (intron variant)	ALG8 congenital disorder of glycosylation	GBenign
Select item 2150812	NM_024079.5(ALG8):c.478+6C>T	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2148414	NM_024079.5(ALG8):c.435G>A (p.Leu145=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2142991	NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)	ALG8 (R215Q)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2132145	NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)	ALG8 (L203R)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2127292	NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)	ALG8 (A287T)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2123918	NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)	ALG8 (Q87*)	Single nucleotide variant (nonsense)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 2118558	NM_024079.5(ALG8):c.174+2del	ALG8	Deletion (splice donor variant)	ALG8 congenital disorder of glycosylation	GLikely pathogenic
Select item 2102949	NM_024079.5(ALG8):c.504T>C (p.Phe168=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2100353	NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)	ALG8 (L149P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2087898	NM_024079.5(ALG8):c.1039-19C>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2083457	NM_024079.5(ALG8):c.115G>T (p.Val39Leu)	ALG8 (V39L)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2078700	NM_024079.5(ALG8):c.441A>G (p.Val147=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2065980	NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)	ALG8 (L390I)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2050026	NM_024079.5(ALG8):c.1356A>G (p.Glu452=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2033446	NM_024079.5(ALG8):c.1554T>C (p.Ser518=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2024334	NM_024079.5(ALG8):c.345A>C (p.Val115=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2020270	NM_024079.5(ALG8):c.1386C>T (p.Phe462=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 2017528	NM_024079.5(ALG8):c.96-9T>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 2015614	NM_024079.5(ALG8):c.141_144del (p.His48fs)	ALG8 (H48fs)	Microsatellite (frameshift variant)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 2004084	NM_024079.5(ALG8):c.643C>A (p.Arg215=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1991142	NM_024079.5(ALG8):c.1485C>G (p.Thr495=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1987378	NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)	ALG8 (G130E)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1981755	NM_024079.5(ALG8):c.1123A>G (p.Met375Val)	ALG8 (M375V)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1979712	NM_024079.5(ALG8):c.739T>C (p.Leu247=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1976227	NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)	ALG8 (I77T)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1969006	NM_024079.5(ALG8):c.136A>G (p.Ile46Val)	ALG8 (I46V)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1966086	NM_024079.5(ALG8):c.368+16G>T	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1947494	NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)	ALG8 (P224Q)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1944728	NM_024079.5(ALG8):c.191C>T (p.Thr64Met)	ALG8 (T64M)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1926783	NM_024079.5(ALG8):c.1467C>T (p.Phe489=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1921619	NM_024079.5(ALG8):c.757T>C (p.Leu253=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1920887	NM_024079.5(ALG8):c.54G>T (p.Ala18=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1899053	NM_024079.5(ALG8):c.743T>C (p.Val248Ala)	ALG8 (V248A)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1714465	NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)	ALG8 (R184S)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1709526	NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)	ALG8 (F270L)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1709525	NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)	ALG8 (S267P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1691712	NM_024079.5(ALG8):c.478C>T (p.His160Tyr)	ALG8 (H160Y)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 1662725	NM_024079.5(ALG8):c.899-15A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1636686	NM_024079.5(ALG8):c.369-15A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1632360	NM_024079.5(ALG8):c.993A>T (p.Ser331=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1626529	NM_024079.5(ALG8):c.546+12T>G	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GLikely benign
Select item 1594509	NM_024079.5(ALG8):c.96-6G>A	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1589797	NM_024079.5(ALG8):c.95+16G>A	ALG8, LOC130006492	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 1573764	NM_024079.5(ALG8):c.1491G>A (p.Val497=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 1540921	NM_024079.5(ALG8):c.175-13A>G	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GLikely benign
Select item 1524192	NM_024079.5(ALG8):c.479-3C>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1490405	NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp)	ALG8 (N457D)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1437904	NM_024079.5(ALG8):c.802del (p.Arg268fs)	ALG8 (R268fs)	Deletion (frameshift variant)	ALG8 congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1406714	NM_024079.5(ALG8):c.802C>T (p.Arg268Ter)	ALG8 (R268*)	Single nucleotide variant (nonsense)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 1393772	NM_024079.5(ALG8):c.982G>A (p.Val328Ile)	ALG8 (V328I)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1381259	NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg)	ALG8 (P488R)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1372613	NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)	ALG8 (A258T)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1369988	NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe)	ALG8 (L465F)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1363458	NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu)	ALG8 (P419L)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1344961	NM_024079.5(ALG8):c.95+1G>A	ALG8	Single nucleotide variant (splice donor variant)	Polycystic liver disease 3 with or without kidney cysts +2 more	GLikely pathogenic
Select item 1342864	NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs)	ALG8 (L407fs)	Deletion (frameshift variant)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 1341365	NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)	ALG8 (P69L)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GLikely pathogenic
Select item 1329945	NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg)	ALG8 (T504R)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 1218011	NM_024079.5(ALG8):c.175-18C>A	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +2 more	GBenign/Likely benign
Select item 1188964	NM_024079.5(ALG8):c.174+30del	ALG8	Deletion (intron variant)	not provided +1 more	GBenign

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