"GeneDx"[submitter] AND "EPS8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided	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 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 provided +1 more	GBenign
Select item 3342633	NM_004447.6(EPS8):c.2321A>G (p.Tyr774Cys)	EPS8 (Y514C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 499499	NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu)	EPS8 (D761E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 506478	NM_004447.6(EPS8):c.2230G>A (p.Val744Ile)	EPS8 (V744I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 517652	NM_004447.6(EPS8):c.2226-15dup	EPS8	Duplication (intron variant)	not provided +1 more	GBenign
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 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 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 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 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 513633	NM_004447.6(EPS8):c.2073A>G (p.Gln691=)	EPS8	Single nucleotide variant (synonymous variant)	not specified +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 1334355	NM_004447.6(EPS8):c.1967G>A (p.Arg656His)	EPS8 (R656H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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)	not provided	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 1327676	NM_004447.6(EPS8):c.1854_1856delinsCCG (p.Asp619Arg)	EPS8 (D619R)	Indel (missense variant)	not provided	GUncertain significance
Select item 514411	NM_004447.6(EPS8):c.1838A>G (p.Tyr613Cys)	EPS8 (Y613C)	Single nucleotide variant (missense variant)	not provided	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 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 1707729	NM_004447.6(EPS8):c.1818A>G (p.Ile606Met)	EPS8 (I606M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248359	NM_004447.6(EPS8):c.1788G>T (p.Gly596=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1195260	NM_004447.6(EPS8):c.1678-30A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259177	NM_004447.6(EPS8):c.1678-85A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272636	NM_004447.6(EPS8):c.1678-176del	EPS8	Deletion (intron variant)	not provided	GBenign
Select item 1218911	NM_004447.6(EPS8):c.1677+253C>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222453	NM_004447.6(EPS8):c.1677+211G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683164	NM_004447.6(EPS8):c.1677+36A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509187	NM_004447.6(EPS8):c.1653G>A (p.Ser551=)	EPS8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 500058	NM_004447.6(EPS8):c.1638C>T (p.Asn546=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1197948	NM_004447.6(EPS8):c.1582C>T (p.Leu528Phe)	EPS8 (L528F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1272117	NM_004447.6(EPS8):c.1569-32A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213064	NM_004447.6(EPS8):c.1568+326C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197712	NM_004447.6(EPS8):c.1568+275A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212978	NM_004447.6(EPS8):c.1568+258G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241168	NM_004447.6(EPS8):c.1568+249G>T	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276956	NM_004447.6(EPS8):c.1568+218G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190262	NM_004447.6(EPS8):c.1568+71A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509185	NM_004447.6(EPS8):c.1555C>T (p.Arg519Cys)	EPS8 (R519C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 517547	NM_004447.6(EPS8):c.1482T>C (p.Ser494=)	EPS8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3369854	NM_004447.6(EPS8):c.1468G>A (p.Gly490Ser)	EPS8 (G230S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340969	NM_004447.6(EPS8):c.1465G>A (p.Asp489Asn)	EPS8 (D229N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1212356	NM_004447.6(EPS8):c.1443T>C (p.Ser481=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1231451	NM_004447.6(EPS8):c.1434+208A>T	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1914354	NM_004447.6(EPS8):c.1403G>A (p.Arg468His)	EPS8 (R388H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666828	NM_004447.6(EPS8):c.1396C>T (p.His466Tyr)	EPS8 (H466Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3370966	NM_004447.6(EPS8):c.1390G>A (p.Ala464Thr)	EPS8 (A204T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 252629	NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)	EPS8 (F444L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1254743	NM_004447.6(EPS8):c.1328A>G (p.Asn443Ser)	EPS8 (N443S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2662933	NM_004447.6(EPS8):c.1321A>G (p.Met441Val)	EPS8 (M181V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429562	NM_004447.6(EPS8):c.1300C>T (p.Arg434Cys)	EPS8 (R174C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509184	NM_004447.6(EPS8):c.1287T>C (p.Tyr429=)	EPS8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3089914	NM_004447.6(EPS8):c.1261C>T (p.Pro421Ser)	EPS8 (P161S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1240960	NM_004447.6(EPS8):c.1251-52A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183263	NM_004447.6(EPS8):c.1251-223G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181024	NM_004447.6(EPS8):c.1250+322C>T	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265333	NM_004447.6(EPS8):c.1250+155T>C	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223216	NM_004447.6(EPS8):c.1250+119del	EPS8	Deletion (intron variant)	not provided	GLikely benign
Select item 499503	NM_004447.6(EPS8):c.1230A>C (p.Gly410=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2430538	NM_004447.6(EPS8):c.1207C>T (p.Arg403Trp)	EPS8 (R143W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506640	NM_004447.6(EPS8):c.1184A>G (p.Asn395Ser)	EPS8 (N135S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1504196	NM_004447.6(EPS8):c.1106T>C (p.Val369Ala)	EPS8 (V369A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277571	NM_004447.6(EPS8):c.1102G>A (p.Val368Met)	EPS8 (V368M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1222251	NM_004447.6(EPS8):c.1102-140A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509515	NM_004447.6(EPS8):c.1083G>A (p.Leu361=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1249918	NM_004447.6(EPS8):c.1027-155A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683307	NM_004447.6(EPS8):c.937+99G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446214	NM_004447.6(EPS8):c.884C>G (p.Ser295Cys)	EPS8 (S156C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1199038	NM_004447.6(EPS8):c.855A>C (p.Thr285=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513632	NM_004447.6(EPS8):c.825C>T (p.His275=)	EPS8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1197885	NM_004447.6(EPS8):c.811-181G>A	EPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243099	NM_004447.6(EPS8):c.811-231T>C	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274835	NM_004447.6(EPS8):c.811-239A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248632	NM_004447.6(EPS8):c.810+202A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221136	NM_004447.6(EPS8):c.810+159A>G	EPS8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340356	NM_004447.6(EPS8):c.809T>C (p.Val270Ala)	EPS8 (V10A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 515437	NM_004447.6(EPS8):c.737-4A>G	EPS8	Single nucleotide variant (intron variant)	not specified	GLikely benign

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