ClinVar for Gene (Select 196483) - ClinVar - NCBI

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	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 3274564	NM_201400.4(EEF2KMT):c.163G>A (p.Val55Met)	EEF2KMT (V55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274563	NM_201400.4(EEF2KMT):c.364C>A (p.Leu122Ile)	EEF2KMT (L122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274562	NM_201400.4(EEF2KMT):c.763G>A (p.Ala255Thr)	EEF2KMT (A194T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3274560	NM_201400.4(EEF2KMT):c.53G>A (p.Arg18His)	EEF2KMT (R18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274559	NM_201400.4(EEF2KMT):c.593G>A (p.Arg198Gln)	EEF2KMT (R137Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243499	NC_000016.9:g.(?_5127426)_(5134882_?)del	EEF2KMT, ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243498	NC_000016.9:g.(?_5133663)_(5134882_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243497	NC_000016.9:g.(?_5132540)_(5134882_?)del	EEF2KMT, ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
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 3087329	NM_201400.4(EEF2KMT):c.88C>T (p.Pro30Ser)	EEF2KMT (P30S)	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 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 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 3087325	NM_201400.4(EEF2KMT):c.70C>G (p.Arg24Gly)	EEF2KMT (R24G)	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
Select item 3087322	NM_201400.4(EEF2KMT):c.356C>T (p.Ser119Leu)	EEF2KMT (S119L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087321	NM_201400.4(EEF2KMT):c.173C>T (p.Pro58Leu)	EEF2KMT (P58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087320	NM_201400.4(EEF2KMT):c.154C>T (p.His52Tyr)	EEF2KMT (H52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087319	NM_201400.4(EEF2KMT):c.139C>G (p.Leu47Val)	EEF2KMT (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063456	GRCh37/hg19 16p13.3(chr16:5107989-5186447)x1	ALG1, C16orf89 +1 more	Copy number loss	not specified	GUncertain significance
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 2684780	GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3	ALG1, C16orf89 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2646175	NM_201400.4(EEF2KMT):c.503C>T (p.Ala168Val)	EEF2KMT (A107V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2609160	NM_201400.4(EEF2KMT):c.353G>A (p.Gly118Asp)	EEF2KMT (G118D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 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 2541783	NM_201400.4(EEF2KMT):c.538C>T (p.Arg180Cys)	EEF2KMT (R180C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515231	NM_201400.4(EEF2KMT):c.394G>A (p.Gly132Ser)	EEF2KMT (G132S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2486158	NM_201400.4(EEF2KMT):c.403G>A (p.Gly135Ser)	EEF2KMT (G135S +2 more)	Single nucleotide variant (missense variant)	not specified	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 2426515	NC_000016.9:g.(?_5132540)_(5134882_?)dup	ALG1, EEF2KMT	Duplication	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2406768	NM_201400.4(EEF2KMT):c.329G>A (p.Arg110Gln)	EEF2KMT (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2384695	NM_201400.4(EEF2KMT):c.191C>A (p.Pro64Gln)	EEF2KMT (P64Q)	Single nucleotide variant (missense variant +1 more)	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 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 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 2351846	NM_201400.4(EEF2KMT):c.545G>A (p.Arg182Gln)	EEF2KMT (R148Q +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 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 2343500	NM_201400.4(EEF2KMT):c.290C>T (p.Ala97Val)	EEF2KMT (A97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304326	NM_201400.4(EEF2KMT):c.89C>A (p.Pro30His)	EEF2KMT (P30H)	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 2264600	NM_201400.4(EEF2KMT):c.160A>T (p.Thr54Ser)	EEF2KMT (T54S)	Single nucleotide variant (missense variant +1 more)	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 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 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
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 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1522448	NC_000016.9:g.(?_5125369)_(5134882_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
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

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