EEF2KMT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 146375	GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3	ALG1, C16orf89 +29 more	Copy number gain	See cases	GLikely benign
Select item 155214	GRCh38/hg38 16p13.3(chr16:5028859-5255498)x1	ALG1, C16orf89 +16 more	Copy number loss	See cases	GUncertain significance
Select item 584089	NC_000016.10:g.(?_5080946)_(5097739_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 1279388	NM_201400.4(EEF2KMT):c.*1187T>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1251364	NM_201400.4(EEF2KMT):c.*1133G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1214429	NM_201400.4(EEF2KMT):c.*1081G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
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 1213047	NM_201400.4(EEF2KMT):c.*1034C>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1564597	NM_201400.4(EEF2KMT):c.*900G>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2965104	NM_201400.4(EEF2KMT):c.*899A>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2867649	NM_201400.4(EEF2KMT):c.*899del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 2693495	NM_201400.4(EEF2KMT):c.*898G>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 508301	NM_201400.4(EEF2KMT):c.*898G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2870280	NM_201400.4(EEF2KMT):c.*893dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
Select item 2858881	NM_201400.4(EEF2KMT):c.*894T>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1658347	NM_201400.4(EEF2KMT):c.*893del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GBenign
Select item 1416279	NM_201400.4(EEF2KMT):c.*893A>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2734691	NM_201400.4(EEF2KMT):c.*892A>C	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 773576	NM_201400.4(EEF2KMT):c.*891A>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1588513	NM_201400.4(EEF2KMT):c.*886C>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 1488863	NM_201400.4(EEF2KMT):c.*885G>A	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 +2 more	GLikely benign
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 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 194258	NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)	ALG1, EEF2KMT (D318E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
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 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 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 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 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 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 690315	NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	ALG1, EEF2KMT (R327W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
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 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 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 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 1475548	NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)	ALG1, EEF2KMT (R442W +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 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 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 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 1440202	NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)	ALG1, EEF2KMT (S444L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 1636169	NM_019109.5(ALG1):c.1332G>A (p.Ser444=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	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 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 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 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 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 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 2060567	NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)	EEF2KMT, ALG1 (D339G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
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 2149338	NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)	EEF2KMT, ALG1 (W453L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
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 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 2696308	NM_019109.5(ALG1):c.1365G>A (p.Gln455=)	ALG1, EEF2KMT	Single nucleotide variant (synonymous variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
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 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 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 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 2994265	NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)	ALG1, EEF2KMT (P348L +1 more)	Single nucleotide variant (missense 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 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 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 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 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 3035495	NM_201400.4(EEF2KMT):c.*746A>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	ALG1-related disorder	GLikely benign
Select item 166670	NM_201400.4(EEF2KMT):c.733_734dup	ALG1, EEF2KMT	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1189650	NM_201400.4(EEF2KMT):c.*723C>T	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1197920	NM_201400.4(EEF2KMT):c.*476C>A	EEF2KMT, ALG1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 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 1032824	NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp)	ALG1, EEF2KMT (E285D +2 more)	Single nucleotide variant (missense variant +1 more)	ALG1-congenital disorder of glycosylation	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 2396217	NM_201400.4(EEF2KMT):c.886G>A (p.Glu296Lys)	EEF2KMT (E235K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087328	NM_201400.4(EEF2KMT):c.850G>A (p.Val284Ile)	EEF2KMT (V223I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345451	NM_201400.4(EEF2KMT):c.817C>A (p.Gln273Lys)	EEF2KMT (Q212K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087327	NM_201400.4(EEF2KMT):c.811G>C (p.Glu271Gln)	EEF2KMT (E210Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220741	NM_201400.4(EEF2KMT):c.809G>A (p.Arg270Gln)	EEF2KMT (R209Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3087326	NM_201400.4(EEF2KMT):c.808C>T (p.Arg270Trp)	EEF2KMT (R209W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364049	NM_201400.4(EEF2KMT):c.797T>C (p.Leu266Pro)	EEF2KMT (L266P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361909	NM_201400.4(EEF2KMT):c.791G>A (p.Arg264Gln)	EEF2KMT (R203Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511077	NM_201400.4(EEF2KMT):c.781G>A (p.Gly261Arg)	EEF2KMT (G200R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589798	NM_201400.4(EEF2KMT):c.770T>A (p.Met257Lys)	EEF2KMT (M196K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600654	NM_201400.4(EEF2KMT):c.745G>A (p.Val249Met)	EEF2KMT (V215M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346037	NM_201400.4(EEF2KMT):c.712G>A (p.Ala238Thr)	EEF2KMT (A177T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590043	NM_201400.4(EEF2KMT):c.692C>T (p.Ala231Val)	EEF2KMT (A197V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354334	NM_201400.4(EEF2KMT):c.649G>C (p.Asp217His)	EEF2KMT (D183H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296497	NM_201400.4(EEF2KMT):c.638C>T (p.Thr213Ile)	EEF2KMT (T213I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509469	NM_201400.4(EEF2KMT):c.613G>A (p.Gly205Ser)	EEF2KMT (G171S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087324	NM_201400.4(EEF2KMT):c.571A>G (p.Ser191Gly)	EEF2KMT (S130G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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