"GeneDx"[submitter] AND "EFTUD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1274394	NM_004247.4(EFTUD2):c.2823+35C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710737	NM_004247.4(EFTUD2):c.2813G>A (p.Arg938His)	EFTUD2 (R903H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2574455	NM_004247.4(EFTUD2):c.2809A>G (p.Thr937Ala)	EFTUD2 (T902A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30401	NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)	EFTUD2 (Q924* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2502013	NM_004247.4(EFTUD2):c.2731C>T (p.Pro911Ser)	EFTUD2 (P876S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198451	NM_004247.4(EFTUD2):c.2716-234C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263536	NM_004247.4(EFTUD2):c.2715+118C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177960	NM_004247.4(EFTUD2):c.2715+23C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259255	NM_004247.4(EFTUD2):c.2715+18G>C	EFTUD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 265116	NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)	EFTUD2 (V900fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 712397	NM_004247.4(EFTUD2):c.2697T>C (p.Ser899=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 451365	NM_004247.4(EFTUD2):c.2674del (p.Gln892fs)	EFTUD2 (Q857fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1302657	NM_004247.4(EFTUD2):c.2645G>T (p.Gly882Val)	EFTUD2 (G847V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708227	NM_004247.4(EFTUD2):c.2631C>T (p.Ala877=)	EFTUD2	Single nucleotide variant (synonymous variant)	EFTUD2-related condition +1 more	GBenign/Likely benign
Select item 1223456	NM_004247.4(EFTUD2):c.2628G>A (p.Pro876=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212841	NM_004247.4(EFTUD2):c.2627C>T (p.Pro876Leu)	EFTUD2 (P841L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1691639	NM_004247.4(EFTUD2):c.2624del (p.Ile875fs)	EFTUD2 (I840fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 746135	NM_004247.4(EFTUD2):c.2607C>T (p.Tyr869=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2579997	NM_004247.4(EFTUD2):c.2594G>A (p.Gly865Asp)	EFTUD2 (G830D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984919	NM_004247.4(EFTUD2):c.2562-2_2562-1del	EFTUD2	Deletion (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1182772	NM_004247.4(EFTUD2):c.2562-40A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240970	NM_004247.4(EFTUD2):c.2562-55C>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260416	NM_004247.4(EFTUD2):c.2562-316T>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251772	NM_004247.4(EFTUD2):c.2561+213A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817333	NM_004247.4(EFTUD2):c.2544del (p.Val849fs)	EFTUD2 (V849fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1225481	NM_004247.4(EFTUD2):c.2466+26C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424276	NM_004247.4(EFTUD2):c.2466+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1313564	NM_004247.4(EFTUD2):c.2426T>C (p.Ile809Thr)	EFTUD2 (I774T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216813	NM_004247.4(EFTUD2):c.2347+41C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392673	NM_004247.4(EFTUD2):c.2347+1G>T	EFTUD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 423361	NM_004247.4(EFTUD2):c.2333C>A (p.Pro778His)	EFTUD2 (P778H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2662935	NM_004247.4(EFTUD2):c.2330G>T (p.Gly777Val)	EFTUD2 (G742V +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2581824	NM_004247.4(EFTUD2):c.2260-9T>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1286506	NM_004247.4(EFTUD2):c.2260-20G>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231216	NM_004247.4(EFTUD2):c.2260-30C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215395	NM_004247.4(EFTUD2):c.2260-39C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271741	NM_004247.4(EFTUD2):c.2260-63_2260-61del	EFTUD2	Deletion (intron variant)	not provided	GBenign
Select item 1212451	NM_004247.4(EFTUD2):c.2259+31G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575538	NM_004247.4(EFTUD2):c.2172G>T (p.Trp724Cys)	EFTUD2 (W689C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282942	NM_004247.4(EFTUD2):c.2133-21A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193812	NM_004247.4(EFTUD2):c.2132+95A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249188	NM_004247.4(EFTUD2):c.2132+93G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288160	NM_004247.4(EFTUD2):c.2132+42G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258964	NM_004247.4(EFTUD2):c.2132+40G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190852	NM_004247.4(EFTUD2):c.2132+20G>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2574552	NM_004247.4(EFTUD2):c.2059A>G (p.Met687Val)	EFTUD2 (M652V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1277584	NM_004247.4(EFTUD2):c.2046-102T>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269740	NM_004247.4(EFTUD2):c.2045+71T>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242758	NM_004247.4(EFTUD2):c.2045+28A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315122	NM_004247.4(EFTUD2):c.2002G>A (p.Glu668Lys)	EFTUD2 (E633K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306978	NM_004247.4(EFTUD2):c.1963G>T (p.Val655Leu)	EFTUD2 (V620L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419585	NM_004247.4(EFTUD2):c.1963-1G>T	EFTUD2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1195220	NM_004247.4(EFTUD2):c.1963-57G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267730	NM_004247.4(EFTUD2):c.1963-169A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227503	NM_004247.4(EFTUD2):c.1962+33G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254047	NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp)	EFTUD2 (R610W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308746	NM_004247.4(EFTUD2):c.1927G>A (p.Asp643Asn)	EFTUD2 (D608N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504058	NM_004247.4(EFTUD2):c.1901_1902insAA (p.Leu635fs)	EFTUD2 (L600fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 429653	NM_004247.4(EFTUD2):c.1897G>A (p.Gly633Arg)	EFTUD2 (G633R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175497	NM_004247.4(EFTUD2):c.1861-147del	EFTUD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1279213	NM_004247.4(EFTUD2):c.1860+244TG[14]	EFTUD2	Microsatellite (intron variant)	not provided	GBenign
Select item 1259458	NM_004247.4(EFTUD2):c.1860+244TG[11]	EFTUD2	Microsatellite (intron variant)	not provided	GBenign
Select item 1235166	NM_004247.4(EFTUD2):c.1860+244TG[13]	EFTUD2	Microsatellite (intron variant)	not provided	GBenign
Select item 1189378	NM_004247.4(EFTUD2):c.1860+228_1860+230del	EFTUD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1177708	NM_004247.4(EFTUD2):c.1860+168G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191257	NM_004247.4(EFTUD2):c.1860+133G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282690	NM_004247.4(EFTUD2):c.1860+102C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265311	NM_004247.4(EFTUD2):c.1860+2del	EFTUD2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 451890	NM_004247.4(EFTUD2):c.1849C>G (p.Leu617Val)	EFTUD2 (L617V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723010	NM_004247.4(EFTUD2):c.1829T>A (p.Val610Asp)	EFTUD2 (V575D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314408	NM_004247.4(EFTUD2):c.1736C>T (p.Pro579Leu)	EFTUD2 (P544L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379625	NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter)	EFTUD2 (R578* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 1282108	NM_004247.4(EFTUD2):c.1720-46C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207229	NM_004247.4(EFTUD2):c.1720-133C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280870	NM_004247.4(EFTUD2):c.1719+51G>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267619	NM_004247.4(EFTUD2):c.1719+19C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703337	NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)	EFTUD2 (R534* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 435030	NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=)	EFTUD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 280664	NM_004247.4(EFTUD2):c.1669C>T (p.Gln557Ter)	EFTUD2 (Q557* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 430225	NM_004247.4(EFTUD2):c.1648G>A (p.Val550Ile)	EFTUD2 (V550I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306374	NM_004247.4(EFTUD2):c.1628G>A (p.Arg543His)	EFTUD2 (R508H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259253	NM_004247.4(EFTUD2):c.1608-17A>T	EFTUD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1253250	NM_004247.4(EFTUD2):c.1608-74dup	EFTUD2	Duplication (intron variant)	not provided	GBenign
Select item 1208334	NM_004247.4(EFTUD2):c.1608-74_1608-73dup	EFTUD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1288344	NM_004247.4(EFTUD2):c.1608-53del	EFTUD2	Deletion (intron variant)	not provided	GBenign
Select item 1226411	NM_004247.4(EFTUD2):c.1608-54_1608-53del	EFTUD2	Deletion (intron variant)	not provided	GBenign
Select item 1212633	NM_004247.4(EFTUD2):c.1608-56_1608-53del	EFTUD2	Deletion (intron variant)	not provided	GLikely benign
Select item 1288696	NM_004247.4(EFTUD2):c.1607+259del	EFTUD2	Deletion (intron variant)	not provided	GBenign
Select item 1212270	NM_004247.4(EFTUD2):c.1607+114G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244070	NM_004247.4(EFTUD2):c.1607+24A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271036	NM_004247.4(EFTUD2):c.1607+22G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234486	NM_004247.4(EFTUD2):c.1578C>T (p.Thr526=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722630	NM_004247.4(EFTUD2):c.1575C>T (p.Cys525=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 521747	NM_004247.4(EFTUD2):c.1570A>G (p.Ile524Val)	EFTUD2 (I524V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 429890	NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)	EFTUD2 (Y514* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1315164	NM_004247.4(EFTUD2):c.1541A>G (p.Tyr514Cys)	EFTUD2 (Y479C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801983	NM_004247.4(EFTUD2):c.1481G>A (p.Gly494Asp)	EFTUD2 (G459D +2 more)	Single nucleotide variant (missense variant)	EFTUD2-related condition +1 more	GLikely pathogenic
Select item 1219034	NM_004247.4(EFTUD2):c.1414-14G>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1207301	NM_004247.4(EFTUD2):c.1414-45C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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