EEF1A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	LOC130066361, LOC130066362 +102 more	Duplication	not provided	GUncertain significance
Select item 58977	GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1	ARFGAP1, BIRC7 +37 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 1341868	NC_000020.11:g.63255263_63498365del	ARFGAP1, CHRNA4 +19 more	Deletion	Seizure	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 646958	NC_000020.11:g.(?_63428347)_(63497783_?)del	EEF1A2, KCNQ2 +5 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530655	NC_000020.11:g.(?_63438605)_(63488445_?)del	EEF1A2, KCNQ2 +3 more	Deletion	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 461213	NC_000020.11:g.(?_63444639)_(63528152_?)del	EEF1A2, KCNQ2 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	EEF1A2, FNDC11 +59 more	Copy number loss	See cases	GPathogenic
Select item 642634	NC_000020.11:g.(?_63472148)_(63528152_?)del	PTK6, PPDPF +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 3026366	NM_001958.5(EEF1A2):c.*246C>T	EEF1A2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1214217	NM_001958.5(EEF1A2):c.1389G>A (p.Lys463=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122823	NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 252597	NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])	EEF1A2	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 33 +2 more	GConflicting classifications of pathogenicity
Select item 384354	NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val)	EEF1A2 (A461V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 1583938	NM_001958.5(EEF1A2):c.1380G>A (p.Lys460=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1709392	NM_001958.5(EEF1A2):c.1379A>G (p.Lys460Arg)	EEF1A2 (K460R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38	GUncertain significance
Select item 1087846	NM_001958.5(EEF1A2):c.1374G>A (p.Ala458=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2130764	NM_001958.5(EEF1A2):c.1369A>G (p.Lys457Glu)	EEF1A2 (K457E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1553351	NM_001958.5(EEF1A2):c.1365G>A (p.Ala455=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2812273	NM_001958.5(EEF1A2):c.1356C>G (p.Thr452=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2037760	NM_001958.5(EEF1A2):c.1356C>A (p.Thr452=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1941091	NM_001958.5(EEF1A2):c.1351G>A (p.Val451Ile)	EEF1A2 (V451I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 1015458	NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser)	EEF1A2 (G449S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +2 more	GUncertain significance
Select item 2965962	NM_001958.5(EEF1A2):c.1344C>G (p.Ala448=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1958477	NM_001958.5(EEF1A2):c.1344C>T (p.Ala448=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 682276	NM_001958.5(EEF1A2):c.1341C>T (p.Gly447=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596037	NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser)	EEF1A2 (G447S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GBenign
Select item 1117032	NM_001958.5(EEF1A2):c.1338C>T (p.Gly446=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 864342	NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg)	EEF1A2 (S445R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383879	NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1693764	NM_001958.5(EEF1A2):c.1325AGA[2] (p.Lys444del)	EEF1A2 (K444del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2139550	NM_001958.5(EEF1A2):c.1332G>A (p.Lys444=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2849847	NM_001958.5(EEF1A2):c.1328A>G (p.Lys443Arg)	EEF1A2 (K443R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 380904	NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 388109	NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1421838	NM_001958.5(EEF1A2):c.1316A>G (p.Lys439Arg)	EEF1A2 (K439R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 2693003	NM_001958.5(EEF1A2):c.1311C>G (p.Val437=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1529454	NM_001958.5(EEF1A2):c.1311C>T (p.Val437=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1311396	NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile)	EEF1A2 (V437I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 383531	NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)	EEF1A2 (V437F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1459521	NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala)	EEF1A2 (V435A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GPathogenic
Select item 1108410	NM_001958.5(EEF1A2):c.1302C>T (p.Ala434=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 385722	NM_001958.5(EEF1A2):c.1302C>A (p.Ala434=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1128061	NM_001958.5(EEF1A2):c.1296G>C (p.Thr432=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 476032	NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 383889	NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=)	EEF1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 830077	NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)	EEF1A2 (T432M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +2 more	GPathogenic/Likely pathogenic
Select item 423928	NM_001958.5(EEF1A2):c.1289G>A (p.Arg430Lys)	EEF1A2 (R430K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500024	NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)	EEF1A2 (M429R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 38 +1 more	GUncertain significance
Select item 2999464	NM_001958.5(EEF1A2):c.1285A>G (p.Met429Val)	EEF1A2 (M429V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 743812	NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 2876841	NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1167266	NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GBenign
Select item 2175011	NM_001958.5(EEF1A2):c.1272C>T (p.Phe424=)	EEF1A2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2863317	NM_001958.5(EEF1A2):c.1268_1269delinsAA (p.Arg423Gln)	EEF1A2 (R423Q)	Indel (missense variant)	Developmental and epileptic encephalopathy, 33	GUncertain significance
Select item 589916	NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=)	EEF1A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 265111	NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys)	EEF1A2 (R423C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 796746	NM_001958.5(EEF1A2):c.1266C>G (p.Gly422=)	EEF1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 524155	NM_001958.5(EEF1A2):c.1265-1dup	EEF1A2	Duplication (splice acceptor variant)	not provided	GLikely pathogenic
Select item 382763	NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)	EEF1A2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 809272	NM_001958.5(EEF1A2):c.1265-2A>G	EEF1A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 421074	NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3]	EEF1A2	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 33 +1 more	GLikely benign
Select item 2163270	NM_001958.5(EEF1A2):c.1265-3del	EEF1A2	Deletion (intron variant)	Developmental and epileptic encephalopathy, 33	GBenign
Select item 1132392	NM_001958.5(EEF1A2):c.1265-4C>A	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 3003863	NM_001958.5(EEF1A2):c.1265-23_1265-6dup	EEF1A2	Duplication (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2102609	NM_001958.5(EEF1A2):c.1265-6C>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2707582	NM_001958.5(EEF1A2):c.1265-7C>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2188617	NM_001958.5(EEF1A2):c.1265-8C>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1113685	NM_001958.5(EEF1A2):c.1265-8C>G	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1541745	NM_001958.5(EEF1A2):c.1265-9G>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 542652	NM_001958.5(EEF1A2):c.1265-15dup	EEF1A2	Duplication (intron variant)	Developmental and epileptic encephalopathy, 33	GBenign
Select item 2111154	NM_001958.5(EEF1A2):c.1265-10C>G	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 515417	NM_001958.5(EEF1A2):c.1265-10del	EEF1A2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1664937	NM_001958.5(EEF1A2):c.1265-11C>T	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 2847112	NM_001958.5(EEF1A2):c.1265-12C>A	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1668252	NM_001958.5(EEF1A2):c.1265-13C>A	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 1590095	NM_001958.5(EEF1A2):c.1265-15C>A	EEF1A2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 33	GLikely benign
Select item 382686	NM_001958.5(EEF1A2):c.1265-15C>T	EEF1A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1298178	NM_001958.5(EEF1A2):c.1265-35C>T	EEF1A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219908	NM_001958.5(EEF1A2):c.1265-52dup	EEF1A2	Duplication (intron variant)	not provided	GLikely benign
Select item 680019	NM_001958.5(EEF1A2):c.1265-45del	EEF1A2	Deletion (intron variant)	not provided	GBenign
Select item 680018	NM_001958.5(EEF1A2):c.1265-97A>G	EEF1A2	Single nucleotide variant (intron variant)	not provided	GBenign

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