EFTUD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1342375	NC_000017.11:g.44846894_44962103del	C1QL1, CCDC103 +9 more	Deletion	not provided	GPathogenic
Select item 2053177	NM_004247.4(EFTUD2):c.2918G>C (p.Ter973Ser)	EFTUD2	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 2370453	NM_004247.4(EFTUD2):c.2906A>G (p.Asn969Ser)	EFTUD2 (N934S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 718574	NM_004247.4(EFTUD2):c.2862T>C (p.Asp954=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2961855	NM_004247.4(EFTUD2):c.2859C>T (p.Phe953=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634955	NM_004247.4(EFTUD2):c.2831G>T (p.Ser944Ile)	EFTUD2 (S909I +2 more)	Single nucleotide variant (missense variant)	EFTUD2-related condition	GUncertain significance
Select item 2968879	NM_004247.4(EFTUD2):c.2824-12C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274394	NM_004247.4(EFTUD2):c.2823+35C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1928274	NM_004247.4(EFTUD2):c.2823+18C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815943	NM_004247.4(EFTUD2):c.2823+16G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938747	NM_004247.4(EFTUD2):c.2823+12T>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115644	NM_004247.4(EFTUD2):c.2823+7_2823+8insTCA	EFTUD2	Insertion (intron variant)	not provided	GLikely benign
Select item 1382358	NM_004247.4(EFTUD2):c.2823+3A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 40048	NM_004247.4(EFTUD2):c.2823+1del	EFTUD2	Deletion (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
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 2972452	NM_004247.4(EFTUD2):c.2805C>A (p.Ile935=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765799	NM_004247.4(EFTUD2):c.2805C>T (p.Ile935=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105766	NM_004247.4(EFTUD2):c.2805C>G (p.Ile935Met)	EFTUD2 (I900M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956817	NM_004247.4(EFTUD2):c.2784C>T (p.His928=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1677603	NM_004247.4(EFTUD2):c.2752_2755dup (p.Arg919fs)	EFTUD2 (R884fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 3006982	NM_004247.4(EFTUD2):c.2716-8C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2082629	NM_004247.4(EFTUD2):c.2715+7A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely 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 988301	NM_004247.4(EFTUD2):c.2689_2693del (p.Ser897fs)	EFTUD2 (S862fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3024246	NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)	EFTUD2 (Q859fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 451365	NM_004247.4(EFTUD2):c.2674del (p.Gln892fs)	EFTUD2 (Q857fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2169023	NM_004247.4(EFTUD2):c.2673C>G (p.Thr891=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755204	NM_004247.4(EFTUD2):c.2650G>A (p.Glu884Lys)	EFTUD2 (E874K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581074	NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)	EFTUD2 (F846fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	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 1984228	NM_004247.4(EFTUD2):c.2634C>T (p.Ile878=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2830232	NM_004247.4(EFTUD2):c.2630C>G (p.Ala877Gly)	EFTUD2 (A842G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2801059	NM_004247.4(EFTUD2):c.2609C>A (p.Thr870Asn)	EFTUD2 (T860N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 931795	NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)	EFTUD2 (P832fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 521038	NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs)	EFTUD2 (S831fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 1916408	NM_004247.4(EFTUD2):c.2591C>T (p.Pro864Leu)	EFTUD2 (P829L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565955	NM_004247.4(EFTUD2):c.2568C>T (p.His856=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113532	NM_004247.4(EFTUD2):c.2562-2_2562del	EFTUD2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
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 521130	NM_004247.4(EFTUD2):c.2562-1G>A	EFTUD2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 1454611	NM_004247.4(EFTUD2):c.2562-2del	EFTUD2	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
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 2957535	NM_004247.4(EFTUD2):c.2561+17G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2124347	NM_004247.4(EFTUD2):c.2561+13A>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2161385	NM_004247.4(EFTUD2):c.2561+7G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754235	NM_004247.4(EFTUD2):c.2555G>A (p.Arg852Lys)	EFTUD2 (R817K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 488388	NM_004247.4(EFTUD2):c.2551del (p.Ala851fs)	EFTUD2 (A816fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3014186	NM_004247.4(EFTUD2):c.2545G>A (p.Val849Ile)	EFTUD2 (V814I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897886	NM_004247.4(EFTUD2):c.2544C>T (p.Thr848=)	EFTUD2	Single nucleotide variant (synonymous variant)	EFTUD2-related condition +1 more	GLikely benign
Select item 817333	NM_004247.4(EFTUD2):c.2544del (p.Val849fs)	EFTUD2 (V849fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3032336	NM_004247.4(EFTUD2):c.2539del (p.Tyr847fs)	EFTUD2 (Y812fs +2 more)	Deletion (frameshift variant)	EFTUD2-related condition	GLikely pathogenic
Select item 1924051	NM_004247.4(EFTUD2):c.2526C>T (p.Cys842=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985469	NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs)	EFTUD2 (V801fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 31642	NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter)	EFTUD2 (Y832* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 30403	NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter)	EFTUD2 (Y831* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 1335275	NM_004247.4(EFTUD2):c.2477G>A (p.Arg826His)	EFTUD2 (R791H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051595	NM_004247.4(EFTUD2):c.2467-4G>T	EFTUD2	Single nucleotide variant (intron variant)	EFTUD2-related condition	GLikely benign
Select item 2801418	NM_004247.4(EFTUD2):c.2467-12G>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668202	NM_004247.4(EFTUD2):c.2467-17T>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225481	NM_004247.4(EFTUD2):c.2466+26C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964555	NM_004247.4(EFTUD2):c.2466+15C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002076	NM_004247.4(EFTUD2):c.2466+13G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935540	NM_004247.4(EFTUD2):c.2466+9A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967456	NM_004247.4(EFTUD2):c.2466+8A>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3064962	NM_004247.4(EFTUD2):c.2466+2T>C	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 424276	NM_004247.4(EFTUD2):c.2466+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2960957	NM_004247.4(EFTUD2):c.2446G>A (p.Val816Ile)	EFTUD2 (V816I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905877	NM_004247.4(EFTUD2):c.2445C>T (p.Val815=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560998	NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys)	EFTUD2 (R813K +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 2783556	NM_004247.4(EFTUD2):c.2427C>T (p.Ile809=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2978401	NM_004247.4(EFTUD2):c.2422A>G (p.Ile808Val)	EFTUD2 (I798V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916558	NM_004247.4(EFTUD2):c.2419del (p.Gln807fs)	EFTUD2 (Q797fs +2 more)	Deletion (frameshift variant)	Tracheoesophageal fistula	GPathogenic
Select item 2962384	NM_004247.4(EFTUD2):c.2418C>T (p.Gly806=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404977	NM_004247.4(EFTUD2):c.2407C>T (p.Arg803Trp)	EFTUD2 (R803W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805282	NM_004247.4(EFTUD2):c.2364G>A (p.Lys788=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522000	NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs)	EFTUD2 (R750fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1905791	NM_004247.4(EFTUD2):c.2348-14C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879251	NM_004247.4(EFTUD2):c.2348-19C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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