Related gene-specific medical variations for Gene (Select 196483) - ClinVar

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283921	NM_019109.5(ALG1):c.1339C>T (p.Leu447Phe)	ALG1, EEF2KMT (L447F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3274561	NM_201400.4(EEF2KMT):c.926G>A (p.Arg309His)	ALG1, EEF2KMT (R275H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110420	NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr)	ALG1, EEF2KMT (P319T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3087330	NM_201400.4(EEF2KMT):c.896G>A (p.Arg299Gln)	ALG1, EEF2KMT (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3035495	NM_019109.5(ALG1):c.*5T>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	ALG1-related disorder	GLikely benign
Select item 2994265	NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)	ALG1, EEF2KMT (P348L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2965104	NM_019109.5(ALG1):c.1264-17T>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2875228	NM_019109.5(ALG1):c.1314G>C (p.Arg438=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2870280	NM_019109.5(ALG1):c.1264-5dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
Select item 2867649	NM_019109.5(ALG1):c.1264-17del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2858881	NM_019109.5(ALG1):c.1264-12A>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2855354	NM_019109.5(ALG1):c.1272C>T (p.Phe424=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2817215	NM_019109.5(ALG1):c.1317G>A (p.Lys439=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2805019	NM_019109.5(ALG1):c.1335G>A (p.Gln445=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2779476	NM_019109.5(ALG1):c.1329G>A (p.Glu443=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2734691	NM_019109.5(ALG1):c.1264-10T>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2718878	NM_019109.5(ALG1):c.1302A>T (p.Leu434=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2699857	NM_019109.5(ALG1):c.1326G>A (p.Arg442=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2696308	NM_019109.5(ALG1):c.1365G>A (p.Gln455=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2693495	NM_019109.5(ALG1):c.1264-16C>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2555934	NM_019109.5(ALG1):c.1390A>C (p.Thr464Pro)	ALG1, EEF2KMT (T464P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2429274	NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?)	ALG1, EEF2KMT	Duplication (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2386599	NM_201400.4(EEF2KMT):c.967A>G (p.Met323Val)	ALG1, EEF2KMT (M262V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351915	NM_201400.4(EEF2KMT):c.980A>C (p.Asn327Thr)	ALG1, EEF2KMT (N266T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2149338	NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)	ALG1, EEF2KMT (W453L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2071702	NM_019109.5(ALG1):c.1392A>G (p.Thr464=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2060567	NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)	ALG1, EEF2KMT (D339G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2060490	NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)	ALG1, EEF2KMT (R337Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2045388	NM_019109.5(ALG1):c.1365G>C (p.Gln455His)	ALG1, EEF2KMT (Q455H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1990764	NM_019109.5(ALG1):c.1324C>A (p.Arg442=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1985776	NM_019109.5(ALG1):c.1369G>A (p.Val457Met)	ALG1, EEF2KMT (V346M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1982318	NM_019109.5(ALG1):c.1341C>G (p.Leu447=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1926832	NM_019109.5(ALG1):c.1344A>G (p.Arg448=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1696364	NM_019109.5(ALG1):c.1359G>C (p.Trp453Cys)	ALG1, EEF2KMT (W342C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1658347	NM_019109.5(ALG1):c.1264-5del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
Select item 1636169	NM_019109.5(ALG1):c.1332G>A (p.Ser444=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1636167	NM_019109.5(ALG1):c.1275A>C (p.Ser425=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1597631	NM_019109.5(ALG1):c.1368T>A (p.Thr456=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1591223	NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)	ALG1, EEF2KMT (A320V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1588513	NM_019109.5(ALG1):c.1264-4G>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1564597	NM_019109.5(ALG1):c.1264-18C>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1548551	NM_019109.5(ALG1):c.1353G>A (p.Glu451=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1530296	NM_019109.5(ALG1):c.1374C>T (p.Leu458=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1494906	NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)	ALG1, EEF2KMT (W338R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1488863	NM_019109.5(ALG1):c.1264-3C>T	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 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 1440202	NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)	EEF2KMT, ALG1 (S444L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1436988	NM_019109.5(ALG1):c.1360G>A (p.Val454Met)	ALG1, EEF2KMT (V454M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	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 1425428	NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)	ALG1, EEF2KMT (K328R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1424141	NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)	ALG1, EEF2KMT	Indel (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1416279	NM_019109.5(ALG1):c.1264-11T>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1412187	NC_000016.9:g.(?_5134731)_(5134882_?)dup	ALG1, EEF2KMT	Duplication	ALG1-congenital disorder of glycosylation	GUncertain significance
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 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 1398210	NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)	ALG1, EEF2KMT (M462T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1361662	NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)	ALG1, EEF2KMT (P317T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1279388	NM_019109.5(ALG1):c.1264-305A>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251364	NM_019109.5(ALG1):c.1264-251C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1214429	NM_019109.5(ALG1):c.1264-199C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213047	NM_019109.5(ALG1):c.1264-152G>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1197920	NM_019109.5(ALG1):c.*275G>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1189650	NM_019109.5(ALG1):c.*28G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1184361	NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)	ALG1, EEF2KMT (Q325* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1048859	NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)	ALG1, EEF2KMT (A320E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1032824	NM_019109.5(ALG1):c.*787C>G	ALG1, EEF2KMT (E285D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1012177	NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)	ALG1, EEF2KMT (F316C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 1008938	NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)	ALG1, EEF2KMT (E332K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 931729	NM_201400.4(EEF2KMT):c.*1074C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
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 690315	NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	ALG1, EEF2KMT (R327W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 508301	NM_019109.5(ALG1):c.1264-16C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 382581	NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)	ALG1, EEF2KMT (R337*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194258	NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)	ALG1, EEF2KMT (D318E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 166670	NM_019109.5(ALG1):c.17_18dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 77