"GeneDx"[submitter] AND "EEF2"[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 1245296	NM_001961.4(EEF2):c.*299C>T	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1292369	NM_001961.4(EEF2):c.*231A>C	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1280735	NM_001961.4(EEF2):c.*111C>T	EEF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 994601	NM_001961.4(EEF2):c.*3G>A	EEF2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 1723525	NM_001961.4(EEF2):c.2521C>T (p.Arg841Cys)	EEF2 (R841C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446641	NM_001961.4(EEF2):c.2475C>A (p.Phe825Leu)	EEF2 (F825L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715638	NM_001961.4(EEF2):c.2460G>C (p.Leu820=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1327226	NM_001961.4(EEF2):c.2449T>G (p.Trp817Gly)	EEF2 (W817G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575667	NM_001961.4(EEF2):c.2441T>G (p.Phe814Cys)	EEF2 (F814C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802116	NM_001961.4(EEF2):c.2432A>G (p.Gln811Arg)	EEF2 (Q811R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791348	NM_001961.4(EEF2):c.2424G>A (p.Ala808=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1695651	NM_001961.4(EEF2):c.2423C>T (p.Ala808Val)	EEF2 (A808V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3367415	NM_001961.4(EEF2):c.2390C>T (p.Thr797Ile)	EEF2 (T797I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293357	NM_001961.4(EEF2):c.2384-118G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683836	NM_001961.4(EEF2):c.2384-163A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675231	NM_001961.4(EEF2):c.2384-197A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502556	NM_001961.4(EEF2):c.2279A>G (p.Tyr760Cys)	EEF2 (Y760C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662094	NM_001961.4(EEF2):c.2245A>G (p.Ile749Val)	EEF2, LOC130063169 (I749V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363327	NM_001961.4(EEF2):c.2204C>T (p.Thr735Ile)	EEF2, LOC130063169 (T735I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662577	NM_001961.4(EEF2):c.2191G>A (p.Ala731Thr)	EEF2, LOC130063169 (A731T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128959	NM_001961.4(EEF2):c.2190T>C (p.Tyr730=)	EEF2, LOC130063169	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 26 +1 more	GBenign
Select item 1328763	NM_001961.4(EEF2):c.2067+55C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3253129	NM_001961.4(EEF2):c.1940G>A (p.Arg647His)	EEF2 (R647H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503238	NM_001961.4(EEF2):c.1865T>C (p.Val622Ala)	EEF2 (V622A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368013	NM_001961.4(EEF2):c.1724C>T (p.Pro575Leu)	EEF2 (P575L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706836	NM_001961.4(EEF2):c.1714-172T>C	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706105	NM_001961.4(EEF2):c.1714-208C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248698	NM_001961.4(EEF2):c.1713+171C>G	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182732	NM_001961.4(EEF2):c.1713+15A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371908	NM_001961.4(EEF2):c.1645G>A (p.Ala549Thr)	EEF2 (A549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128958	NM_001961.4(EEF2):c.1632T>C (p.His544=)	EEF2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 26 +1 more	GBenign
Select item 1327376	NM_001961.4(EEF2):c.1605+115dup	EEF2	Duplication (intron variant)	not provided	GLikely benign
Select item 1706351	NM_001961.4(EEF2):c.1597A>G (p.Met533Val)	EEF2 (M533V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315814	NM_001961.4(EEF2):c.1591G>A (p.Asp531Asn)	EEF2 (D531N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447293	NM_001961.4(EEF2):c.1549C>T (p.Leu517=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1683923	NM_001961.4(EEF2):c.1538A>T (p.Asn513Ile)	EEF2 (N513I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370241	NM_001961.4(EEF2):c.1483C>T (p.Arg495Trp)	EEF2 (R495W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365811	NM_001961.4(EEF2):c.1474C>G (p.His492Asp)	EEF2 (H492D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443641	NM_001961.4(EEF2):c.1465dup (p.Glu489fs)	EEF2 (E489fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1265995	NM_001961.4(EEF2):c.1346+145C>A	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325983	NM_001961.4(EEF2):c.1346+34A>C	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662760	NM_001961.4(EEF2):c.1312AAG[1] (p.Lys439del)	EEF2 (K439del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1804365	NM_001961.4(EEF2):c.1223G>T (p.Gly408Val)	EEF2 (G408V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430957	NM_001961.4(EEF2):c.1207C>T (p.Pro403Ser)	EEF2 (P403S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363296	NM_001961.4(EEF2):c.1202T>C (p.Met401Thr)	EEF2 (M401T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255372	NM_001961.4(EEF2):c.1150+15T>C	EEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1695543	NM_001961.4(EEF2):c.1150+5G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1710663	NM_001961.4(EEF2):c.1018A>G (p.Met340Val)	EEF2 (M340V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699517	NM_001961.4(EEF2):c.1001C>T (p.Pro334Leu)	EEF2 (P334L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585841	NM_001961.4(EEF2):c.906T>C (p.Asp302=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1281867	NM_001961.4(EEF2):c.898-76T>C	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2506617	NM_001961.4(EEF2):c.897+149G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662507	NM_001961.4(EEF2):c.892T>G (p.Phe298Val)	EEF2 (F298V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706736	NM_001961.4(EEF2):c.792-31A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585838	NM_001961.4(EEF2):c.711C>T (p.Ala237=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1320766	NM_001961.4(EEF2):c.667T>C (p.Phe223Leu)	EEF2 (F223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318704	NM_001961.4(EEF2):c.658G>A (p.Gly220Arg)	EEF2 (G220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365415	NM_001961.4(EEF2):c.647C>T (p.Ser216Phe)	EEF2 (S216F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235520	NM_001961.4(EEF2):c.612+20G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316078	NM_001961.4(EEF2):c.585C>T (p.Gly195=)	EEF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 995092	NM_001961.4(EEF2):c.567C>T (p.Ile189=)	EEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1803415	NM_001961.4(EEF2):c.479T>G (p.Met160Arg)	EEF2 (M160R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995090	NM_001961.4(EEF2):c.450C>T (p.Arg150=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1315717	NM_001961.4(EEF2):c.433C>T (p.Gln145Ter)	EEF2 (Q145*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2430941	NM_001961.4(EEF2):c.425T>C (p.Val142Ala)	EEF2 (V142A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260905	NM_001961.4(EEF2):c.400+26C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573982	NM_001961.4(EEF2):c.349G>A (p.Ala117Thr)	EEF2 (A117T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995089	NM_001961.4(EEF2):c.324T>C (p.His108=)	EEF2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3253369	NM_001961.4(EEF2):c.307A>G (p.Ile103Val)	EEF2 (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443409	NM_001961.4(EEF2):c.295C>T (p.Leu99Phe)	EEF2 (L99F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371655	NM_001961.4(EEF2):c.221C>T (p.Ala74Val)	EEF2 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368994	NM_001961.4(EEF2):c.219-2A>G	EEF2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1181120	NM_001961.4(EEF2):c.219-13C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248697	NM_001961.4(EEF2):c.219-273A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328611	NM_001961.4(EEF2):c.218+204C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328703	NM_001961.4(EEF2):c.218C>T (p.Thr73Ile)	EEF2 (T73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368705	NM_001961.4(EEF2):c.164G>C (p.Arg55Pro)	EEF2 (R55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320715	NM_001961.4(EEF2):c.86A>C (p.Asp29Ala)	EEF2 (D29A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804445	NM_001961.4(EEF2):c.41A>C (p.Asp14Ala)	EEF2 (D14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226478	NM_001961.4(EEF2):c.4-64C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225557	NM_001961.4(EEF2):c.4-105C>T	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328786	NM_001961.4(EEF2):c.4-141G>A	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272659	NM_001961.4(EEF2):c.4-192A>G	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264562	NM_001961.4(EEF2):c.3+228T>C	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328841	NM_001961.4(EEF2):c.3+134G>T	EEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293354	NM_001961.4(EEF2):c.3+126G>C	EEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222311	NC_000019.10:g.3985578C>T	EEF2	Single nucleotide variant	not provided	GBenign
Select item 3361519	NM_001961.4(EEF2):c.866_868del (p.Phe289del)	EEF2 (F289del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3361085	NM_001961.4(EEF2):c.328G>A (p.Asp110Asn)	EEF2 (D110N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3360754	NM_001961.4(EEF2):c.2522G>A (p.Arg841His)	EEF2 (R841H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 94