ALG8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 1224993	NC_000011.10:g.78100680T>C	ALG8	Single nucleotide variant	not provided	GBenign
Select item 1235083	NC_000011.10:g.78100755dup	ALG8	Duplication	not provided	GBenign
Select item 1286202	NC_000011.10:g.78100817C>T	ALG8	Single nucleotide variant	not provided	GBenign
Select item 1255268	NC_000011.10:g.78100847T>C	ALG8	Single nucleotide variant	not provided	GBenign
Select item 96088	NM_024079.4(ALG8):c.*20A>G	ALG8	Single nucleotide variant	ALG8 congenital disorder of glycosylation +3 more	GBenign
Select item 709638	NM_024079.5(ALG8):c.1578A>G (p.Gln526=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 1025402	NM_024079.5(ALG8):c.1556C>T (p.Ala519Val)	ALG8 (A519V)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
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 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 930774	NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)	ALG8 (Y511*)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely pathogenic
Select item 882709	NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)	ALG8 (A506T)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 284641	NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)	ALG8 (I503V)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 715356	NM_024079.5(ALG8):c.1506C>T (p.Gly502=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2506356	NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)	ALG8	Deletion (3 prime UTR variant +1 more)	Autosomal dominant polycystic liver disease	GPathogenic
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 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 1926783	NM_024079.5(ALG8):c.1467C>T (p.Phe489=)	ALG8	Single nucleotide variant (synonymous variant +1 more)	ALG8 congenital disorder of glycosylation	GLikely benign
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 306211	NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)	ALG8 (Y487C)	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic liver disease 3 with or without kidney cysts +1 more	GConflicting classifications of pathogenicity
Select item 2896685	NM_024079.5(ALG8):c.1443C>T (p.Thr481=)	ALG8 (P331L +1 more)	Single nucleotide variant (synonymous variant +2 more)	ALG8 congenital disorder of glycosylation	GLikely benign
Select item 697999	NM_024079.5(ALG8):c.1443C>G (p.Thr481=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 3111369	NM_024079.5(ALG8):c.1442C>T (p.Thr481Ile)	ALG8 (P457S +20 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111366	NM_024079.5(ALG8):c.1436C>T (p.Pro479Leu)	ALG8 (P351L +20 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 939502	NM_024079.5(ALG8):c.1429G>C (p.Val477Leu)	ALG8 (V477L)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8 congenital disorder of glycosylation	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 2631013	NM_024079.5(ALG8):c.1388A>G (p.Tyr463Cys)	ALG8 (T313A +20 more)	Single nucleotide variant (missense variant +1 more)	ALG8-related condition	GUncertain significance
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 493098	NM_024079.5(ALG8):c.1381A>G (p.Thr461Ala)	ALG8 (T461A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 2050026	NM_024079.5(ALG8):c.1356A>G (p.Glu452=)	ALG8	Single nucleotide variant (3 prime UTR variant +1 more)	ALG8-related condition +1 more	GLikely benign
Select item 2977771	NM_024079.5(ALG8):c.1353dup (p.Glu452fs)	ALG8 (E452fs)	Duplication (frameshift variant +1 more)	ALG8 congenital disorder of glycosylation	GPathogenic
Select item 3111361	NM_024079.5(ALG8):c.1352A>T (p.Lys451Ile)	ALG8 (K279I +20 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267117	NM_024079.5(ALG8):c.1350-3C>T	ALG8	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1228671	NM_024079.5(ALG8):c.1350-82A>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189265	NM_024079.5(ALG8):c.1350-280del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1205867	NM_024079.5(ALG8):c.1349+1027_1349+1028del	ALG8	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 306212	NM_024079.5(ALG8):c.1349+5T>C	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +2 more	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 2977570	NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)	ALG8	Duplication (frameshift variant +2 more)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 3031593	NM_024079.5(ALG8):c.1329G>A (p.Ser443=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related condition	GLikely benign
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	GUncertain significance
Select item 166677	NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)	ALG8 (I439T)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	GBenign/Likely benign
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 664953	NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)	ALG8 (I431M)	Single nucleotide variant (missense variant)	Polycystic liver disease 3 with or without kidney cysts +1 more	GUncertain significance
Select item 538563	NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)	ALG8 (I429V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1160384	NM_024079.5(ALG8):c.1277-10_1277-8del	ALG8	Deletion (intron variant)	ALG8-related condition +1 more	GLikely benign
Select item 789629	NM_024079.5(ALG8):c.1277-10C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177775	NM_024079.5(ALG8):c.1277-16del	ALG8	Deletion (intron variant)	ALG8 congenital disorder of glycosylation	GBenign
Select item 1345002	NM_024079.5(ALG8):c.1277-44C>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268028	NM_024079.5(ALG8):c.1277-98G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 704610	NM_024079.5(ALG8):c.1276+10G>A	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1143010	NM_024079.5(ALG8):c.1276+9C>T	ALG8	Single nucleotide variant (intron 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 condition +1 more	GUncertain significance
Select item 2313962	NM_024079.5(ALG8):c.1271C>T (p.Ala424Val)	ALG8 (A424V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 713954	NM_024079.5(ALG8):c.1227G>C (p.Leu409=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign
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 3032354	NM_024079.5(ALG8):c.1212G>A (p.Ser404=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8-related condition	GLikely benign
Select item 306213	NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)	ALG8 (S404L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1219665	NM_024079.5(ALG8):c.1179-190G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266905	NM_024079.5(ALG8):c.1179-241A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264055	NM_024079.5(ALG8):c.1179-277C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280058	NM_024079.5(ALG8):c.1178+234T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265736	NM_024079.5(ALG8):c.1178+122_1178+125dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 773249	NM_024079.5(ALG8):c.1178+7A>G	ALG8	Single nucleotide variant (intron variant)	ALG8 congenital disorder of glycosylation +1 more	GLikely benign
Select item 96089	NM_024079.5(ALG8):c.1178G>A (p.Ser393Asn)	ALG8 (S393N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3111357	NM_024079.5(ALG8):c.1165A>G (p.Ile389Val)	ALG8 (I322V +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1304231	NM_024079.5(ALG8):c.1160T>C (p.Leu387Pro)	ALG8 (L387P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384081	NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)	ALG8 (W378C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 1311986	NM_024079.5(ALG8):c.1117T>G (p.Ser373Ala)	ALG8 (S373A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387426	NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)	ALG8 (S373P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	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 2493706	NM_024079.5(ALG8):c.1093T>C (p.Cys365Arg)	ALG8 (C365R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 883482	NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln)	ALG8 (R364Q)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation	GUncertain significance
Select item 280116	NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	ALG8 (R364*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2334446	NM_024079.5(ALG8):c.1072G>A (p.Gly358Arg)	ALG8 (G358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 306214	NM_024079.5(ALG8):c.1039-5T>C	ALG8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1238767	NM_024079.5(ALG8):c.1039-276AT[13]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1229537	NM_024079.5(ALG8):c.1039-276AT[14]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1189932	NM_024079.5(ALG8):c.1039-276AT[15]	ALG8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291628	NM_024079.5(ALG8):c.1039-276AT[10]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1225659	NM_024079.5(ALG8):c.1039-276AT[9]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1223344	NM_024079.5(ALG8):c.1039-276AT[11]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1259091	NM_024079.5(ALG8):c.1039-284A>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281837	NM_024079.5(ALG8):c.1038+320A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215778	NM_024079.5(ALG8):c.1038+260A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574716	NM_024079.5(ALG8):c.1038+223_1038+224del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1218784	NM_024079.5(ALG8):c.1038+172A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 730090	NM_024079.5(ALG8):c.1038+9T>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 492976	NM_024079.5(ALG8):c.1038+1G>T	ALG8	Single nucleotide variant (splice donor variant)	Polycystic liver disease 3 with or without kidney cysts	GPathogenic
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 2196753	NM_024079.5(ALG8):c.1020C>T (p.Cys340=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation	GLikely benign

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