ClinVar for Gene (Select 9343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381471	NM_004247.4(EFTUD2):c.1810C>T (p.Leu604Phe)	EFTUD2 (L569F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378388	NM_004247.4(EFTUD2):c.2637C>G (p.Asp879Glu)	EFTUD2 (D844E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378006	NM_004247.4(EFTUD2):c.2045+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3377267	NM_004247.4(EFTUD2):c.271+2T>A	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 3375670	NM_004247.4(EFTUD2):c.635C>G (p.Ser212Cys)	EFTUD2 (S177C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373510	NM_004247.4(EFTUD2):c.2662C>T (p.Arg888Trp)	EFTUD2 (R853W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372798	NM_004247.4(EFTUD2):c.1891G>C (p.Gly631Arg)	EFTUD2 (G596R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372730	NM_004247.4(EFTUD2):c.1093_1094delinsAA (p.Ser365Asn)	EFTUD2 (S330N +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3371699	NM_004247.4(EFTUD2):c.2800A>G (p.Met934Val)	EFTUD2 (M899V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370488	NC_000017.11:g.44852563dup	EFTUD2	Duplication	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 3370200	NM_004247.4(EFTUD2):c.1011A>C (p.Gln337His)	EFTUD2 (Q302H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369617	NM_004247.4(EFTUD2):c.1466A>G (p.Gln489Arg)	EFTUD2 (Q454R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368999	NM_004247.4(EFTUD2):c.2302C>G (p.Gln768Glu)	EFTUD2 (Q733E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366419	NM_004247.4(EFTUD2):c.2561+6C>T	EFTUD2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3365998	NM_004247.4(EFTUD2):c.2688_2689dup (p.Ser897fs)	EFTUD2 (S862fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3364931	NM_004247.4(EFTUD2):c.2336T>G (p.Leu779Arg)	EFTUD2 (L744R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364470	NM_004247.4(EFTUD2):c.178C>A (p.His60Asn)	EFTUD2 (H25N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363470	NM_004247.4(EFTUD2):c.2110G>T (p.Val704Leu)	EFTUD2 (V669L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360358	NM_004247.4(EFTUD2):c.1150-3C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359513	NM_004247.4(EFTUD2):c.2039A>G (p.Asn680Ser)	EFTUD2 (N645S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358960	NM_004247.4(EFTUD2):c.2815dup (p.Arg939fs)	EFTUD2 (R904fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3358824	NM_004247.4(EFTUD2):c.1278G>A (p.Glu426=)	EFTUD2	Single nucleotide variant (synonymous variant)	EFTUD2-related disorder	GLikely benign
Select item 3342721	NM_004247.4(EFTUD2):c.623_624del (p.His208fs)	EFTUD2 (H173fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3342309	NM_004247.4(EFTUD2):c.1860+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3341110	GRCh37/hg19 17q21.31(chr17:42927777-43706954)x1	ACBD4, ARHGAP27 +16 more	Copy number loss	Hereditary syndromic Pierre Robin syndrome	GPathogenic
Select item 3340919	NM_004247.4(EFTUD2):c.2398C>T (p.Pro800Ser)	EFTUD2 (P765S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340492	NM_004247.4(EFTUD2):c.568_569del (p.Leu190fs)	EFTUD2 (L155fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3338285	NM_004247.4(EFTUD2):c.446T>A (p.Leu149Ter)	EFTUD2 (L114* +1 more)	Single nucleotide variant (nonsense +1 more)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3336872	NM_004247.4(EFTUD2):c.2226del (p.Asn743fs)	EFTUD2 (N708fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3274722	NM_004247.4(EFTUD2):c.2773C>G (p.Pro925Ala)	EFTUD2 (P890A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257488	NM_004247.4(EFTUD2):c.1002T>A (p.Ile334=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254591	NM_004247.4(EFTUD2):c.1833C>A (p.Asn611Lys)	EFTUD2 (N576K +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 3254577	NM_004247.4(EFTUD2):c.2389G>T (p.Ala797Ser)	EFTUD2 (A762S +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely benign
Select item 3252807	NM_004247.4(EFTUD2):c.1982del (p.Thr661fs)	EFTUD2 (T626fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236619	NM_004247.4(EFTUD2):c.2562-2A>G	EFTUD2	Single nucleotide variant (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3234500	NM_004247.4(EFTUD2):c.1180C>T (p.Arg394Trp)	EFTUD2 (R359W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087614	NM_004247.4(EFTUD2):c.982G>T (p.Ala328Ser)	EFTUD2 (A318S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087613	NM_004247.4(EFTUD2):c.2611A>C (p.Ile871Leu)	EFTUD2 (I836L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087612	NM_004247.4(EFTUD2):c.2045+5G>A	EFTUD2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3087611	NM_004247.4(EFTUD2):c.1675A>G (p.Ile559Val)	EFTUD2 (I524V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3065770	NM_004247.4(EFTUD2):c.1292_1293del (p.Val431fs)	EFTUD2 (V396fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
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 3062263	NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)	EFTUD2 (W674* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062237	NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)	EFTUD2 (E205fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062106	NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)	EFTUD2 (Y601fs +2 more)	Duplication (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic
Select item 3062104	NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)	EFTUD2 (V560F +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GUncertain significance
Select item 3062071	NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)	EFTUD2 (G189R +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic/Likely pathogenic
Select item 3051595	NM_004247.4(EFTUD2):c.2467-4G>T	EFTUD2	Single nucleotide variant (intron variant)	EFTUD2-related disorder	GLikely benign
Select item 3032336	NM_004247.4(EFTUD2):c.2539del (p.Tyr847fs)	EFTUD2 (Y812fs +2 more)	Deletion (frameshift variant)	EFTUD2-related disorder	GLikely pathogenic
Select item 3031278	NM_004247.4(EFTUD2):c.619+6A>G	EFTUD2	Single nucleotide variant (intron variant)	EFTUD2-related disorder	GLikely benign
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 3023448	NM_004247.4(EFTUD2):c.163A>T (p.Met55Leu)	EFTUD2 (M20L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021997	NM_004247.4(EFTUD2):c.272-8T>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021974	NM_004247.4(EFTUD2):c.2260-17C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3012651	NM_004247.4(EFTUD2):c.1285+15G>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012028	NM_004247.4(EFTUD2):c.995-7C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010125	NM_004247.4(EFTUD2):c.987C>A (p.Asp329Glu)	EFTUD2 (D319E +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 3003986	NM_004247.4(EFTUD2):c.2133-4C>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 3001788	NM_004247.4(EFTUD2):c.561A>G (p.Thr187=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000886	NM_004247.4(EFTUD2):c.1982C>G (p.Thr661Arg)	EFTUD2 (T626R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996531	NM_004247.4(EFTUD2):c.919G>A (p.Val307Ile)	EFTUD2 (V272I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992553	NM_004247.4(EFTUD2):c.1861-14C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990844	NM_004247.4(EFTUD2):c.1347T>A (p.Ile449=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988247	NM_004247.4(EFTUD2):c.2007A>G (p.Thr669=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985216	NM_004247.4(EFTUD2):c.1962+18G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985105	NM_004247.4(EFTUD2):c.216G>A (p.Val72=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2984409	NM_004247.4(EFTUD2):c.1413+18C>G	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982785	NM_004247.4(EFTUD2):c.869+13T>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982689	NM_004247.4(EFTUD2):c.373A>G (p.Asn125Asp)	EFTUD2 (N125D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981959	NM_004247.4(EFTUD2):c.1020T>C (p.Ala340=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980959	NM_004247.4(EFTUD2):c.2263G>A (p.Asp755Asn)	EFTUD2 (D745N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980293	NM_004247.4(EFTUD2):c.621A>T (p.Gly207=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979937	NM_004247.4(EFTUD2):c.1536G>A (p.Glu512=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2977887	NM_004247.4(EFTUD2):c.994+11G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974664	NM_004247.4(EFTUD2):c.1058+7dup	EFTUD2	Duplication (intron variant)	not provided	GLikely benign
Select item 2972568	NM_004247.4(EFTUD2):c.1473C>T (p.His491=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972452	NM_004247.4(EFTUD2):c.2805C>A (p.Ile935=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972159	NM_004247.4(EFTUD2):c.2046-18C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970046	NM_004247.4(EFTUD2):c.1787A>G (p.Asn596Ser)	EFTUD2 (N586S +2 more)	Single nucleotide variant (missense variant)	not provided	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 2967871	NM_004247.4(EFTUD2):c.575A>G (p.Asp192Gly)	EFTUD2 (D157G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967854	NM_004247.4(EFTUD2):c.1608G>A (p.Arg536=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2967275	NM_004247.4(EFTUD2):c.202A>G (p.Thr68Ala)	EFTUD2 (T68A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965320	NM_004247.4(EFTUD2):c.213G>A (p.Glu71=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964555	NM_004247.4(EFTUD2):c.2466+15C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963648	NM_004247.4(EFTUD2):c.1084A>G (p.Thr362Ala)	EFTUD2 (T327A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962384	NM_004247.4(EFTUD2):c.2418C>T (p.Gly806=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961855	NM_004247.4(EFTUD2):c.2859C>T (p.Phe953=)	EFTUD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2960500	NM_004247.4(EFTUD2):c.106-9_106-8delinsCC	EFTUD2	Indel (intron variant)	not provided	GUncertain significance
Select item 2960335	NM_004247.4(EFTUD2):c.870-7G>C	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957535	NM_004247.4(EFTUD2):c.2561+17G>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956848	NM_004247.4(EFTUD2):c.2046-20C>A	EFTUD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955392	NM_004247.4(EFTUD2):c.870-20C>T	EFTUD2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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