EPS8L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 1286552	NM_022772.4(EPS8L2):c.-78-174CAACTGGGACGTGGGGC[3]	EPS8L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1276708	NM_022772.4(EPS8L2):c.-78-148_-78-132del	EPS8L2	Microsatellite (intron variant)	not provided	GBenign
Select item 1252652	NM_022772.4(EPS8L2):c.-7A>G	EPS8L2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2064925	NM_022772.4(EPS8L2):c.7C>A (p.Gln3Lys)	EPS8L2 (Q3K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1510864	NM_022772.4(EPS8L2):c.13G>A (p.Gly5Arg)	EPS8L2 (G5R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2070193	NM_022772.4(EPS8L2):c.19G>A (p.Val7Met)	EPS8L2 (V7M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267565	NM_022772.4(EPS8L2):c.23G>A (p.Ser8Asn)	EPS8L2 (S8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037027	NM_022772.4(EPS8L2):c.44+9T>A	EPS8L2	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 726757	NM_022772.4(EPS8L2):c.44+9T>C	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875700	NM_022772.4(EPS8L2):c.44+17A>G	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2257573	NM_022772.4(EPS8L2):c.55G>C (p.Gly19Arg)	EPS8L2 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1908196	NM_022772.4(EPS8L2):c.55G>A (p.Gly19Ser)	EPS8L2 (G19S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1917452	NM_022772.4(EPS8L2):c.58C>T (p.Arg20Trp)	EPS8L2 (R20W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804772	NM_022772.4(EPS8L2):c.59G>A (p.Arg20Gln)	EPS8L2 (R20Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1934805	NM_022772.4(EPS8L2):c.62C>T (p.Ser21Phe)	EPS8L2 (S21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728428	NM_022772.4(EPS8L2):c.63C>T (p.Ser21=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291470	NM_022772.4(EPS8L2):c.67G>A (p.Gly23Ser)	EPS8L2 (G23S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 804774	NM_022772.4(EPS8L2):c.80T>C (p.Met27Thr)	EPS8L2 (M27T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2359223	NM_022772.4(EPS8L2):c.89A>G (p.Lys30Arg)	EPS8L2 (K30R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185465	NM_022772.4(EPS8L2):c.100+72T>C	EPS8L2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 737066	NM_022772.4(EPS8L2):c.123C>T (p.Asn41=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089954	NM_022772.4(EPS8L2):c.130G>A (p.Val44Ile)	EPS8L2 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089955	NM_022772.4(EPS8L2):c.137T>G (p.Met46Arg)	EPS8L2 (M46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334120	NM_022772.4(EPS8L2):c.148_149insGGACA (p.Ser50fs)	EPS8L2 (S50fs)	Insertion (frameshift variant)	Hearing loss, autosomal recessive 106	GPathogenic
Select item 3064378	NM_022772.4(EPS8L2):c.163C>T (p.Gln55Ter)	EPS8L2 (Q55*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 2266183	NM_022772.4(EPS8L2):c.163C>A (p.Gln55Lys)	EPS8L2 (Q55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1659279	NM_022772.4(EPS8L2):c.165+10C>T	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632210	NM_022772.4(EPS8L2):c.165+17A>C	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185466	NM_022772.4(EPS8L2):c.165+72G>A	EPS8L2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245401	NM_022772.4(EPS8L2):c.165+81A>C	EPS8L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241043	NM_022772.4(EPS8L2):c.166-81C>G	EPS8L2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2181932	NM_022772.4(EPS8L2):c.166-9C>T	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970843	NM_022772.4(EPS8L2):c.166-5C>T	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1492831	NM_022772.4(EPS8L2):c.184A>G (p.Met62Val)	EPS8L2 (M62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441380	NM_022772.4(EPS8L2):c.184A>T (p.Met62Leu)	EPS8L2 (M62L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028775	NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met)	EPS8L2 (T69M)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 3019994	NM_022772.4(EPS8L2):c.216C>T (p.Asp72=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596005	NM_022772.4(EPS8L2):c.226C>T (p.Arg76Trp)	EPS8L2 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029483	NM_022772.4(EPS8L2):c.241C>T (p.Leu81=)	EPS8L2	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 1955735	NM_022772.4(EPS8L2):c.255G>T (p.Glu85Asp)	EPS8L2 (E85D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348923	NM_022772.4(EPS8L2):c.286G>T (p.Val96Leu)	EPS8L2 (V96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084134	NM_022772.4(EPS8L2):c.291C>T (p.Asn97=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1185467	NM_022772.4(EPS8L2):c.301C>T (p.Leu101=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2601089	NM_022772.4(EPS8L2):c.304C>T (p.Arg102Trp)	EPS8L2 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089964	NM_022772.4(EPS8L2):c.313G>A (p.Asp105Asn)	EPS8L2 (D105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2091155	NM_022772.4(EPS8L2):c.314A>C (p.Asp105Ala)	EPS8L2 (D105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361454	NM_022772.4(EPS8L2):c.319G>A (p.Glu107Lys)	EPS8L2 (E107K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633474	NM_022772.4(EPS8L2):c.327+19G>A	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498478	NM_022772.4(EPS8L2):c.328-42del	EPS8L2	Deletion (intron variant)	not provided	GBenign
Select item 2025702	NM_022772.4(EPS8L2):c.328-6C>G	EPS8L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2213525	NM_022772.4(EPS8L2):c.368G>A (p.Ser123Asn)	EPS8L2 (S123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557935	NM_022772.4(EPS8L2):c.389T>A (p.Leu130Gln)	EPS8L2 (L130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2989705	NM_022772.4(EPS8L2):c.396C>T (p.Tyr132=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276114	NM_022772.4(EPS8L2):c.415G>C (p.Val139Leu)	EPS8L2 (V139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2029463	NM_022772.4(EPS8L2):c.421C>T (p.Gln141Ter)	EPS8L2 (Q141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2416064	NM_022772.4(EPS8L2):c.428C>T (p.Ser143Leu)	EPS8L2 (S143L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605190	NM_022772.4(EPS8L2):c.441G>A (p.Lys147=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494094	NM_022772.4(EPS8L2):c.443C>T (p.Pro148Leu)	EPS8L2 (P148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664027	NM_022772.4(EPS8L2):c.460C>T (p.His154Tyr)	EPS8L2, LOC130005076 (H154Y)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 106	GUncertain significance
Select item 2411035	NM_022772.4(EPS8L2):c.466G>A (p.Asp156Asn)	EPS8L2, LOC130005076 (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1946781	NM_022772.4(EPS8L2):c.475G>A (p.Glu159Lys)	EPS8L2, LOC130005076 (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057899	NM_022772.4(EPS8L2):c.477+7C>T	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 2992351	NM_022772.4(EPS8L2):c.477+13C>A	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580792	NM_022772.4(EPS8L2):c.477+17C>T	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790441	NM_022772.4(EPS8L2):c.478-10G>A	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585467	NM_022772.4(EPS8L2):c.478-4C>G	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298503	NM_022772.4(EPS8L2):c.493G>T (p.Glu165Ter)	EPS8L2, LOC130005076 (E165*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3276119	NM_022772.4(EPS8L2):c.506G>C (p.Ser169Thr)	EPS8L2, LOC130005076 (S169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1981017	NM_022772.4(EPS8L2):c.506G>A (p.Ser169Asn)	LOC130005076, EPS8L2 (S169N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320707	NM_022772.4(EPS8L2):c.507C>G (p.Ser169Arg)	EPS8L2, LOC130005076 (S169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387021	NM_022772.4(EPS8L2):c.523C>T (p.Arg175Trp)	EPS8L2, LOC130005076 (R175W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1454470	NM_022772.4(EPS8L2):c.530_531dup (p.Lys178fs)	EPS8L2, LOC130005076 (K178fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2005689	NM_022772.4(EPS8L2):c.533A>G (p.Lys178Arg)	EPS8L2, LOC130005076 (K178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601491	NM_022772.4(EPS8L2):c.540G>A (p.Met180Ile)	EPS8L2, LOC130005076 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264218	NM_022772.4(EPS8L2):c.549G>T (p.Gln183His)	EPS8L2, LOC130005076 (Q183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491377	NM_022772.4(EPS8L2):c.550A>G (p.Thr184Ala)	EPS8L2, LOC130005076 (T184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248974	NM_022772.4(EPS8L2):c.558-51A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268070	NM_022772.4(EPS8L2):c.558-45A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669199	NM_022772.4(EPS8L2):c.558-17A>G	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644321	NM_022772.4(EPS8L2):c.558-13C>T	EPS8L2, LOC130005077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902937	NM_022772.4(EPS8L2):c.561A>G (p.Gly187=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409839	NM_022772.4(EPS8L2):c.578G>A (p.Arg193Gln)	EPS8L2 (R193Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2460909	NM_022772.4(EPS8L2):c.589T>C (p.Ser197Pro)	EPS8L2, LOC130005078 (S197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352300	NM_022772.4(EPS8L2):c.594C>T (p.Ile198=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3276112	NM_022772.4(EPS8L2):c.598C>T (p.Pro200Ser)	EPS8L2, LOC130005078 (P200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425710	NM_022772.4(EPS8L2):c.609G>A (p.Gln203=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3276121	NM_022772.4(EPS8L2):c.610G>C (p.Gly204Arg)	EPS8L2, LOC130005078 (G204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1616110	NM_022772.4(EPS8L2):c.615G>C (p.Pro205=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534968	NM_022772.4(EPS8L2):c.616G>T (p.Ala206Ser)	EPS8L2, LOC130005078 (A206S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1919312	NM_022772.4(EPS8L2):c.619C>T (p.Pro207Ser)	EPS8L2, LOC130005078 (P207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747955	NM_022772.4(EPS8L2):c.640G>A (p.Gly214Ser)	EPS8L2, LOC130005078 (G214S)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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