EEF2K[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 148674	GRCh38/hg38 16p12.2(chr16:21717046-22634444)x3	CDR2, CDR2-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 154236	GRCh38/hg38 16p12.2(chr16:21750083-22430686)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 153646	GRCh38/hg38 16p12.2(chr16:21750083-22420036)x1	CDR2, CDR2-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 149749	GRCh38/hg38 16p12.2(chr16:21786451-22547506)x3	CDR2, CDR2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 155340	GRCh38/hg38 16p12.2(chr16:21790568-22430686)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 153825	GRCh38/hg38 16p12.2(chr16:21790568-22420036)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 151183	GRCh38/hg38 16p12.2(chr16:21790568-22699293)x1	CDR2, CDR2-DT +40 more	Copy number loss	See cases	GUncertain significance
Select item 57550	GRCh38/hg38 16p12.2(chr16:21794978-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 56991	GRCh38/hg38 16p12.2(chr16:21825971-22396751)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GBenign
Select item 160945	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x3	CDR2, EEF2K +32 more	Copy number gain	See cases	GUncertain significance
Select item 160908	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance
Select item 148730	GRCh38/hg38 16p12.2(chr16:21826171-22436900)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 146090	GRCh38/hg38 16p12.2(chr16:21826171-22358401)x1	CDR2, EEF2K +32 more	Copy number loss	See cases	GUncertain significance
Select item 57551	GRCh38/hg38 16p12.2(chr16:21826171-22634444)x1	CDR2, CDR2-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 34545	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x3	CDR2, CDR2-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 32255	GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	GUncertain significance; Pathogenic/Likely pathogenic
Select item 146738	GRCh38/hg38 16p12.2(chr16:21827098-22396630)x1	CDR2, CDR2-DT +36 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155398	GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 153492	GRCh38/hg38 16p12.2(chr16:21919927-22430686)x1	CDR2-DT, LOC105371129 +35 more	Copy number loss	See cases	GUncertain significance
Select item 545196	Single allele	LOC130058635, LOC130058646 +35 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545195	Single allele	LOC130058632, LOC130058633 +35 more	Duplication	Autism	GLikely pathogenic
Select item 545194	NC_000016.10:g.(?_21928119)_(22428075_?)del	CDR2, CDR2-DT +35 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155216	GRCh38/hg38 16p12.2(chr16:21935201-22430686)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 1684662	NC_000016.10:g.21936825_22429665del	LOC130058632, LOC130058633 +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 152022	GRCh38/hg38 16p12.2(chr16:21940058-22436900)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 57552	GRCh38/hg38 16p12.2(chr16:21940058-22396610)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	GUncertain significance
Select item 144535	GRCh38/hg38 16p12.2(chr16:21948629-22396630)x1	CDR2, CDR2-DT +35 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 560056	Single allele	CDR2, CDR2-DT +34 more	Deletion	not provided	GUncertain significance
Select item 57560	GRCh38/hg38 16p12.2(chr16:21973700-22396610)x1	CDR2, CDR2-DT +34 more	Copy number loss	See cases	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 2542351	NM_013302.5(EEF2K):c.82G>C (p.Asp28His)	EEF2K (D28H)	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 2495075	NM_013302.5(EEF2K):c.140G>C (p.Ser47Thr)	EEF2K (S47T)	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 2327214	NM_013302.5(EEF2K):c.281A>C (p.His94Pro)	EEF2K (H94P)	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 3274554	NM_013302.5(EEF2K):c.338C>T (p.Thr113Ile)	EEF2K (T113I)	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 2509051	NM_013302.5(EEF2K):c.415G>A (p.Gly139Ser)	EEF2K (G139S)	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 3274558	NM_013302.5(EEF2K):c.506C>T (p.Ala169Val)	EEF2K (A169V)	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 2262331	NM_013302.5(EEF2K):c.533G>A (p.Arg178Gln)	EEF2K (R178Q)	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 2334163	NM_013302.5(EEF2K):c.557G>A (p.Arg186His)	EEF2K (R186H)	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 2371066	NM_013302.5(EEF2K):c.614A>G (p.Lys205Arg)	EEF2K (K205R)	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 2611271	NM_013302.5(EEF2K):c.689A>G (p.His230Arg)	EEF2K (H230R)	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 2550217	NM_013302.5(EEF2K):c.749A>T (p.Asn250Ile)	EEF2K (N250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274556	NM_013302.5(EEF2K):c.761C>A (p.Thr254Lys)	EEF2K (T254K)	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 2592234	NM_013302.5(EEF2K):c.764C>T (p.Pro255Leu)	EEF2K (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2258230	NM_013302.5(EEF2K):c.817G>A (p.Val273Met)	EEF2K (V273M)	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 3087316	NM_013302.5(EEF2K):c.866C>T (p.Thr289Met)	EEF2K (T289M)	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 3087317	NM_013302.5(EEF2K):c.946C>T (p.Arg316Trp)	EEF2K (R316W)	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 2398190	NM_013302.5(EEF2K):c.977T>C (p.Phe326Ser)	EEF2K (F326S)	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 3087318	NM_013302.5(EEF2K):c.992G>A (p.Arg331Gln)	EEF2K (R331Q)	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 2263430	NM_013302.5(EEF2K):c.1057A>C (p.Thr353Pro)	EEF2K (T353P)	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 3087303	NM_013302.5(EEF2K):c.1091C>A (p.Thr364Asn)	EEF2K (T364N)	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 3274555	NM_013302.5(EEF2K):c.1155G>A (p.Met385Ile)	EEF2K (M385I)	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 2492492	NM_013302.5(EEF2K):c.1267T>C (p.Ser423Pro)	EEF2K (S423P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3087305	NM_013302.5(EEF2K):c.1298G>T (p.Arg433Leu)	EEF2K (R433L)	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 2211444	NM_013302.5(EEF2K):c.1324G>A (p.Gly442Arg)	EEF2K (G442R)	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 2298000	NM_013302.5(EEF2K):c.1343G>A (p.Arg448Gln)	EEF2K (R448Q)	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 2362100	NM_013302.5(EEF2K):c.1402T>C (p.Tyr468His)	EEF2K (Y468H)	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 2646311	NM_013302.5(EEF2K):c.1443A>G (p.Val481=)	EEF2K	Single nucleotide variant (synonymous variant)	not provided	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 3087306	NM_013302.5(EEF2K):c.1477C>T (p.Arg493Cys)	EEF2K (R493C)	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 2399327	NM_013302.5(EEF2K):c.1504G>A (p.Val502Met)	EEF2K (V502M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274553	NM_013302.5(EEF2K):c.1603G>A (p.Glu535Lys)	EEF2K (E535K)	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 3087309	NM_013302.5(EEF2K):c.1711G>A (p.Gly571Arg)	EEF2K (G571R)	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 2236662	NM_013302.5(EEF2K):c.1750G>A (p.Asp584Asn)	EEF2K (D584N)	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 2374764	NM_013302.5(EEF2K):c.1969G>A (p.Asp657Asn)	EEF2K (D657N)	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

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