ClinVar for Gene (Select 29904) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087318	NM_013302.5(EEF2K):c.992G>A (p.Arg331Gln)	EEF2K (R331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087317	NM_013302.5(EEF2K):c.946C>T (p.Arg316Trp)	EEF2K (R316W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087316	NM_013302.5(EEF2K):c.866C>T (p.Thr289Met)	EEF2K (T289M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087315	NM_013302.5(EEF2K):c.662C>G (p.Pro221Arg)	EEF2K (P221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087314	NM_013302.5(EEF2K):c.590A>G (p.Glu197Gly)	EEF2K (E197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087313	NM_013302.5(EEF2K):c.473C>A (p.Ala158Asp)	EEF2K (A158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087312	NM_013302.5(EEF2K):c.341G>A (p.Arg114Gln)	EEF2K (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087311	NM_013302.5(EEF2K):c.25C>T (p.Arg9Cys)	EEF2K (R9C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087310	NM_013302.5(EEF2K):c.1724C>T (p.Ser575Leu)	EEF2K (S575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087309	NM_013302.5(EEF2K):c.1711G>A (p.Gly571Arg)	EEF2K (G571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087307	NM_013302.5(EEF2K):c.1490C>T (p.Pro497Leu)	EEF2K (P497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087306	NM_013302.5(EEF2K):c.1477C>T (p.Arg493Cys)	EEF2K (R493C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087305	NM_013302.5(EEF2K):c.1298G>T (p.Arg433Leu)	EEF2K (R433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087304	NM_013302.5(EEF2K):c.1211G>A (p.Ser404Asn)	EEF2K (S404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087303	NM_013302.5(EEF2K):c.1091C>A (p.Thr364Asn)	EEF2K (T364N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087302	NM_013302.5(EEF2K):c.1054G>C (p.Gly352Arg)	EEF2K (G352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063437	GRCh37/hg19 16p12.2(chr16:21801889-22431357)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3063425	GRCh37/hg19 16p12.2(chr16:21787504-22431357)x3	CDR2, EEF2K +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063414	GRCh37/hg19 16p12.2(chr16:21946522-22710614)x1	CDR2, EEF2K +7 more	Copy number loss	not specified	GPathogenic
Select item 3024602	GRCh37/hg19 16p12.2(chr16:21964745-22456395)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024601	GRCh37/hg19 16p12.2(chr16:21964682-22385940)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 3024600	GRCh37/hg19 16p12.2(chr16:21771791-22659880)x1	NPIPB4, NPIPB5 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 2646311	NM_013302.5(EEF2K):c.1443A>G (p.Val481=)	EEF2K	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611271	NM_013302.5(EEF2K):c.689A>G (p.His230Arg)	EEF2K (H230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592234	NM_013302.5(EEF2K):c.764C>T (p.Pro255Leu)	EEF2K (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578775	GRCh37/hg19 16p12.2(chr16:21858865-22361170)x3	CDR2, EEF2K +7 more	Copy number gain	not provided	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2559914	NM_013302.5(EEF2K):c.788T>C (p.Phe263Ser)	EEF2K (F263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557332	NM_013302.5(EEF2K):c.2110A>G (p.Met704Val)	EEF2K (M704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554541	NM_013302.5(EEF2K):c.188T>C (p.Leu63Pro)	EEF2K (L63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550217	NM_013302.5(EEF2K):c.749A>T (p.Asn250Ile)	EEF2K (N250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549408	NM_013302.5(EEF2K):c.871A>G (p.Thr291Ala)	EEF2K (T291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542351	NM_013302.5(EEF2K):c.82G>C (p.Asp28His)	EEF2K (D28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528838	NM_013302.5(EEF2K):c.947G>T (p.Arg316Leu)	EEF2K (R316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521815	NM_013302.5(EEF2K):c.536A>G (p.Asp179Gly)	EEF2K (D179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518587	NM_013302.5(EEF2K):c.1298G>A (p.Arg433Gln)	EEF2K (R433Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509051	NM_013302.5(EEF2K):c.415G>A (p.Gly139Ser)	EEF2K (G139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498684	GRCh37/hg19 16p12.2(chr16:21964745-22385630)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 2495075	NM_013302.5(EEF2K):c.140G>C (p.Ser47Thr)	EEF2K (S47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492492	NM_013302.5(EEF2K):c.1267T>C (p.Ser423Pro)	EEF2K (S423P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483069	NM_013302.5(EEF2K):c.1458G>T (p.Trp486Cys)	EEF2K (W486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473024	NM_013302.5(EEF2K):c.989C>T (p.Pro330Leu)	EEF2K (P330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461201	NM_013302.5(EEF2K):c.1430G>A (p.Ser477Asn)	EEF2K (S477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410588	NM_013302.5(EEF2K):c.1991G>A (p.Arg664Gln)	EEF2K (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406422	NM_013302.5(EEF2K):c.526G>A (p.Val176Ile)	EEF2K (V176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401618	NM_013302.5(EEF2K):c.761C>T (p.Thr254Met)	EEF2K (T254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399327	NM_013302.5(EEF2K):c.1504G>A (p.Val502Met)	EEF2K (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398190	NM_013302.5(EEF2K):c.977T>C (p.Phe326Ser)	EEF2K (F326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374764	NM_013302.5(EEF2K):c.1969G>A (p.Asp657Asn)	EEF2K (D657N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371066	NM_013302.5(EEF2K):c.614A>G (p.Lys205Arg)	EEF2K (K205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369648	NM_013302.5(EEF2K):c.1345G>A (p.Gly449Ser)	EEF2K (G449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364856	NM_013302.5(EEF2K):c.1292A>G (p.Asn431Ser)	EEF2K (N431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362100	NM_013302.5(EEF2K):c.1402T>C (p.Tyr468His)	EEF2K (Y468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351913	NM_013302.5(EEF2K):c.1342C>G (p.Arg448Gly)	EEF2K (R448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348629	NM_013302.5(EEF2K):c.739C>T (p.Arg247Cys)	EEF2K (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342747	NM_013302.5(EEF2K):c.2041G>A (p.Gly681Arg)	EEF2K (G681R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337869	NM_013302.5(EEF2K):c.1088G>C (p.Arg363Thr)	EEF2K (R363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334163	NM_013302.5(EEF2K):c.557G>A (p.Arg186His)	EEF2K (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327214	NM_013302.5(EEF2K):c.281A>C (p.His94Pro)	EEF2K (H94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298000	NM_013302.5(EEF2K):c.1343G>A (p.Arg448Gln)	EEF2K (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296408	NM_013302.5(EEF2K):c.861C>G (p.Ile287Met)	EEF2K (I287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289317	NM_013302.5(EEF2K):c.88G>A (p.Asp30Asn)	EEF2K (D30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263430	NM_013302.5(EEF2K):c.1057A>C (p.Thr353Pro)	EEF2K (T353P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262331	NM_013302.5(EEF2K):c.533G>A (p.Arg178Gln)	EEF2K (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258230	NM_013302.5(EEF2K):c.817G>A (p.Val273Met)	EEF2K (V273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249112	NM_013302.5(EEF2K):c.1146C>G (p.Asp382Glu)	EEF2K (D382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241338	NM_013302.5(EEF2K):c.1930G>A (p.Ala644Thr)	EEF2K (A644T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236662	NM_013302.5(EEF2K):c.1750G>A (p.Asp584Asn)	EEF2K (D584N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228428	NM_013302.5(EEF2K):c.1609G>A (p.Gly537Arg)	EEF2K (G537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211444	NM_013302.5(EEF2K):c.1324G>A (p.Gly442Arg)	EEF2K (G442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205654	NM_013302.5(EEF2K):c.291C>A (p.Asp97Glu)	EEF2K (D97E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879353	GRCh37/hg19 16p12.2(chr16:21846039-22385630)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1879352	GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1	VWA3A, CDR2 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809106	GRCh37/hg19 16p12.2(chr16:21967066-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808745	GRCh37/hg19 16p12.2(chr16:21931248-22431357)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 1808703	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x1	CDR2, EEF2K +9 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
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 1703608	GRCh37/hg19 16p12.2(chr16:21817921-22710614)	CDR2, EEF2K +8 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703589	GRCh37/hg19 16p12.2(chr16:21801889-22431357)	CDR2, EEF2K +7 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703534	GRCh37/hg19 16p12.2(chr16:21801889-22710614)	CDR2, EEF2K +8 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1684662	NC_000016.10:g.21936825_22429665del	LOC130058631, LOC130058632 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1341992	GRCh37/hg19 16p12.2(chr16:21837492-22407931)x1	CDR2, EEF2K +7 more	Copy number loss	not provided	GPathogenic
Select item 1341020	GRCh37/hg19 16p12.2(chr16:21761404-22431357)x3	CDR2, EEF2K +8 more	Copy number gain	not provided	GUncertain significance
Select item 1341018	GRCh37/hg19 16p12.2(chr16:21931247-22431128)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1340395	GRCh37/hg19 16p12.2(chr16:21761405-22710614)x3	CDR2, EEF2K +9 more	Copy number gain	not provided	GUncertain significance
Select item 1339937	GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3	CDR2, EEF2K +10 more	Copy number gain	not provided	Gnot provided
Select item 1330202	GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330200	GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330186	GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330175	GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1	UQCRC2, VWA3A +9 more	Copy number loss	Abnormal foot morphology +4 more	GPathogenic
Select item 1330168	GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 1172567	GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1	MOSMO, POLR3E +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 997048	GRCh37/hg19 16p12.2(chr16:21951379-22407931)	MOSMO, PDZD9 +6 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 988930	GRCh37/hg19 16p12.2(chr16:21946438-22441358)x1	CDR2, EEF2K +6 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980072	GRCh37/hg19 16p12.2(chr16:21931247-22431357)x3	CDR2, EEF2K +6 more	Copy number gain	not provided	GUncertain significance
Select item 973064	GRCh37/hg19 16p12.2(chr16:21839340-22552780)	CDR2, EEF2K +8 more	Copy number loss	not provided	Gnot provided
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided

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