EPS8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 150728	GRCh38/hg38 12p12.3(chr12:15592098-16120442)x3	DERA, EPS8 +13 more	Copy number gain	See cases	GLikely benign
Select item 1205712	NM_004447.6(EPS8):c.*49T>C	EPS8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1254677	NM_004447.6(EPS8):c.*2TTGT[2]	EPS8	Microsatellite (3 prime UTR variant)	EPS8-related condition +1 more	GLikely benign
Select item 1338931	NM_004447.6(EPS8):c.*1T>C	EPS8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2663377	NM_004447.6(EPS8):c.2469A>G (p.Ter823=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1314828	NM_004447.6(EPS8):c.2455G>A (p.Gly819Arg)	EPS8 (G819R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073014	NM_004447.6(EPS8):c.2427T>C (p.Ser809=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3089925	NM_004447.6(EPS8):c.2426G>A (p.Ser809Asn)	EPS8 (S729N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622028	NM_004447.6(EPS8):c.2399G>A (p.Arg800Gln)	EPS8 (R661Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1810466	NM_004447.6(EPS8):c.2374G>A (p.Glu792Lys)	EPS8 (E532K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1221592	NM_004447.6(EPS8):c.2355+306G>T	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508137	NM_004447.6(EPS8):c.2352G>A (p.Leu784=)	EPS8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2965617	NM_004447.6(EPS8):c.2350T>C (p.Leu784=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 517554	NM_004447.6(EPS8):c.2313G>A (p.Ala771=)	EPS8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2603960	NM_004447.6(EPS8):c.2292G>T (p.Arg764Ser)	EPS8 (R625S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 499499	NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu)	EPS8 (D761E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2480668	NM_004447.6(EPS8):c.2276A>G (p.Asn759Ser)	EPS8 (N771S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803297	NM_004447.6(EPS8):c.2252A>G (p.Asn751Ser)	EPS8 (N491S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854388	NM_004447.6(EPS8):c.2249T>C (p.Leu750Ser)	EPS8 (L490S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101453	NM_004447.6(EPS8):c.2231T>C (p.Val744Ala)	EPS8 (V484A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506478	NM_004447.6(EPS8):c.2230G>A (p.Val744Ile)	EPS8 (V744I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 517652	NM_004447.6(EPS8):c.2226-15dup	EPS8	Duplication (intron variant)	not specified +1 more	GBenign
Select item 666690	NM_004447.6(EPS8):c.2226-3del	EPS8	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1190489	NM_004447.6(EPS8):c.2225+229A>C	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181570	NM_004447.6(EPS8):c.2225+224T>C	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284234	NM_004447.6(EPS8):c.2225+148G>C	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1532673	NM_004447.6(EPS8):c.2225+13G>C	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 592975	NM_004447.6(EPS8):c.2195C>T (p.Thr732Met)	EPS8 (T732M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1346964	NM_004447.6(EPS8):c.2186A>T (p.Asp729Val)	EPS8 (D729V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3089923	NM_004447.6(EPS8):c.2183A>G (p.Glu728Gly)	EPS8 (E468G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284180	NM_004447.6(EPS8):c.2180C>A (p.Pro727Gln)	EPS8 (P588Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 517643	NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile)	EPS8 (T726I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 102 +3 more	GUncertain significance
Select item 2529380	NM_004447.6(EPS8):c.2170G>A (p.Asp724Asn)	EPS8 (D585N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2158531	NM_004447.6(EPS8):c.2169C>T (p.Tyr723=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144784	NM_004447.6(EPS8):c.2146G>A (p.Val716Met)	EPS8 (V577M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851083	NM_004447.6(EPS8):c.2145C>T (p.Asn715=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2209729	NM_004447.6(EPS8):c.2137C>T (p.Arg713Trp)	EPS8 (R713W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1565120	NM_004447.6(EPS8):c.2121G>A (p.Lys707=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 508572	NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)	EPS8 (A705T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1409590	NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)	EPS8 (R702W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667046	NM_004447.6(EPS8):c.2099T>C (p.Ile700Thr)	EPS8 (I700T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1611199	NM_004447.6(EPS8):c.2094G>A (p.Leu698=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966116	NM_004447.6(EPS8):c.2077G>A (p.Glu693Lys)	EPS8 (E433K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513633	NM_004447.6(EPS8):c.2073A>G (p.Gln691=)	EPS8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1254793	NM_004447.6(EPS8):c.2058G>C (p.Gln686His)	EPS8 (Q686H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1208008	NM_004447.6(EPS8):c.2045-104C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290720	NM_004447.6(EPS8):c.2045-145A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181825	NM_004447.6(EPS8):c.2044+281A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257155	NM_004447.6(EPS8):c.2044+158G>C	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218832	NM_004447.6(EPS8):c.2044+104T>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909130	NM_004447.6(EPS8):c.2044+18G>T	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982022	NM_004447.6(EPS8):c.2044+7T>C	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1523311	NM_004447.6(EPS8):c.2027A>G (p.Lys676Arg)	EPS8 (K676R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188847	NM_004447.6(EPS8):c.2009G>A (p.Arg670Gln)	EPS8 (R410Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874165	NM_004447.6(EPS8):c.2007G>A (p.Val669=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1474135	NM_004447.6(EPS8):c.2005G>A (p.Val669Met)	EPS8 (V669M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 792837	NM_004447.6(EPS8):c.2004C>T (p.Ile668=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1334355	NM_004447.6(EPS8):c.1967G>A (p.Arg656His)	EPS8 (R656H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089922	NM_004447.6(EPS8):c.1961T>C (p.Ile654Thr)	EPS8 (I666T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 742805	NM_004447.6(EPS8):c.1959T>C (p.Asn653=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1311676	NM_004447.6(EPS8):c.1957A>T (p.Asn653Tyr)	EPS8 (N653Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505021	NM_004447.6(EPS8):c.1938T>G (p.Pro646=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2420222	NM_004447.6(EPS8):c.1933G>C (p.Val645Leu)	EPS8 (V385L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982765	NM_004447.6(EPS8):c.1929A>G (p.Ala643=)	EPS8	Single nucleotide variant (synonymous variant +1 more)	EPS8-related condition +1 more	GLikely benign
Select item 2117040	NM_004447.6(EPS8):c.1906C>T (p.Pro636Ser)	EPS8 (P497S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214161	NM_004447.6(EPS8):c.1903G>A (p.Val635Ile)	EPS8 (V635I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 796662	NM_004447.6(EPS8):c.1878T>G (p.Pro626=)	EPS8	Single nucleotide variant (synonymous variant)	EPS8-related condition +1 more	GLikely benign
Select item 748556	NM_004447.6(EPS8):c.1878T>A (p.Pro626=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 501016	NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)	EPS8 (P626T)	Single nucleotide variant (missense variant)	EPS8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1197546	NM_004447.6(EPS8):c.1859C>G (p.Thr620Ser)	EPS8 (T620S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089921	NM_004447.6(EPS8):c.1856A>G (p.Asp619Gly)	EPS8 (D619G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327676	NM_004447.6(EPS8):c.1854_1856delinsCCG (p.Asp619Arg)	EPS8 (D619R)	Indel (missense variant)	not provided	GUncertain significance
Select item 3089920	NM_004447.6(EPS8):c.1855G>C (p.Asp619His)	EPS8 (D480H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 793448	NM_004447.6(EPS8):c.1839T>C (p.Tyr613=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 514411	NM_004447.6(EPS8):c.1838A>G (p.Tyr613Cys)	EPS8 (Y613C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500289	NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln)	EPS8 (K608Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2983638	NM_004447.6(EPS8):c.1822-19_1822-16del	EPS8	Deletion (intron variant)	not provided	GLikely benign
Select item 2822707	NM_004447.6(EPS8):c.1822-18T>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204852	NM_004447.6(EPS8):c.1822-225G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203321	NM_004447.6(EPS8):c.1822-229C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244032	NM_004447.6(EPS8):c.1821+258A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180945	NM_004447.6(EPS8):c.1821+237C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201157	NM_004447.6(EPS8):c.1821+140G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131685	NM_004447.6(EPS8):c.1821+14C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947825	NM_004447.6(EPS8):c.1821+3G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1707729	NM_004447.6(EPS8):c.1818A>G (p.Ile606Met)	EPS8 (I606M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127162	NM_004447.6(EPS8):c.1802_1817del (p.Pro601fs)	EPS8 (P601fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1717674	NM_004447.6(EPS8):c.1793C>T (p.Ala598Val)	EPS8 (A598V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390454	NM_004447.6(EPS8):c.1789C>T (p.Arg597Cys)	EPS8 (R597C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666827	NM_004447.6(EPS8):c.1789C>A (p.Arg597Ser)	EPS8 (R597S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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