ClinVar for Gene (Select 64787) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3601082	NM_022772.4(EPS8L2):c.996del (p.Lys333fs)	EPS8L2 (K333fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 106	GPathogenic
Select item 3601081	NM_022772.4(EPS8L2):c.961dup (p.Ile321fs)	EPS8L2 (I321fs)	Duplication (frameshift variant)	Hearing loss, autosomal recessive 106	GPathogenic
Select item 3601080	NM_022772.4(EPS8L2):c.357_361dup (p.Gln121fs)	EPS8L2 (Q121fs)	Duplication (frameshift variant)	Hearing loss, autosomal recessive 106	GLikely pathogenic
Select item 3601079	NM_022772.4(EPS8L2):c.1317dup (p.Leu440fs)	EPS8L2 (L440fs)	Duplication (frameshift variant)	Hearing loss, autosomal recessive 106	GLikely pathogenic
Select item 3601078	NM_022772.4(EPS8L2):c.1197G>A (p.Trp399Ter)	EPS8L2 (W399*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 106	GPathogenic
Select item 3509675	NM_022772.4(EPS8L2):c.1246G>A (p.Val416Met)	EPS8L2 (V416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509674	NM_022772.4(EPS8L2):c.2003A>T (p.Lys668Ile)	EPS8L2, LOC130005081 (K668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509673	NM_022772.4(EPS8L2):c.736G>A (p.Ala246Thr)	EPS8L2 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509671	NM_022772.4(EPS8L2):c.425A>G (p.Asp142Gly)	EPS8L2 (D142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509670	NM_022772.4(EPS8L2):c.1054G>A (p.Asp352Asn)	EPS8L2 (D352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509669	NM_022772.4(EPS8L2):c.949T>C (p.Cys317Arg)	EPS8L2 (C317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509668	NM_022772.4(EPS8L2):c.574A>G (p.Ile192Val)	EPS8L2 (I192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509667	NM_022772.4(EPS8L2):c.1954A>G (p.Ile652Val)	EPS8L2, LOC130005081 (I652V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509666	NM_022772.4(EPS8L2):c.1792A>T (p.Ile598Phe)	EPS8L2 (I598F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3509665	NM_022772.4(EPS8L2):c.731C>T (p.Pro244Leu)	EPS8L2 (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362824	NM_022772.4(EPS8L2):c.985-5C>A	EPS8L2	Single nucleotide variant (intron variant)	Hearing loss, autosomal recessive 106	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 3276122	NM_022772.4(EPS8L2):c.2129G>A (p.Arg710Lys)	EPS8L2 (R710K)	Single nucleotide variant (missense variant)	not specified	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 3276120	NM_022772.4(EPS8L2):c.1535C>T (p.Ser512Leu)	EPS8L2 (S512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3276118	NM_022772.4(EPS8L2):c.914G>C (p.Arg305Pro)	EPS8L2 (R305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276117	NM_022772.4(EPS8L2):c.1700G>T (p.Gly567Val)	EPS8L2 (G567V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276115	NM_022772.4(EPS8L2):c.1276C>T (p.Pro426Ser)	EPS8L2 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3276113	NM_022772.4(EPS8L2):c.1636C>G (p.Leu546Val)	EPS8L2, LOC130005080 (L546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3244780	NC_000011.9:g.(?_691481)_(795006_?)dup	CEND1, DEAF1 +5 more	Duplication	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3238940	NM_022772.4(EPS8L2):c.922C>T (p.Pro308Ser)	EPS8L2 (P308S)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238931	NM_022772.4(EPS8L2):c.805T>C (p.Phe269Leu)	EPS8L2 (F269L)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3238870	NM_022772.4(EPS8L2):c.1141C>T (p.Arg381Cys)	EPS8L2 (R381C)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 3089969	NM_022772.4(EPS8L2):c.784G>A (p.Ala262Thr)	EPS8L2 (A262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089968	NM_022772.4(EPS8L2):c.685C>T (p.Pro229Ser)	EPS8L2, LOC130005078 (P229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089967	NM_022772.4(EPS8L2):c.668G>A (p.Arg223His)	EPS8L2, LOC130005078 (R223H)	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 3089963	NM_022772.4(EPS8L2):c.2119A>G (p.Met707Val)	EPS8L2 (M707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089962	NM_022772.4(EPS8L2):c.1738C>T (p.Pro580Ser)	EPS8L2 (P580S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089961	NM_022772.4(EPS8L2):c.1673T>C (p.Phe558Ser)	EPS8L2, LOC130005080 (F558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089960	NM_022772.4(EPS8L2):c.1635C>G (p.Ile545Met)	EPS8L2, LOC130005080 (I545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089959	NM_022772.4(EPS8L2):c.1528G>A (p.Glu510Lys)	EPS8L2 (E510K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089958	NM_022772.4(EPS8L2):c.1391C>T (p.Pro464Leu)	EPS8L2 (P464L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3089954	NM_022772.4(EPS8L2):c.130G>A (p.Val44Ile)	EPS8L2 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089953	NM_022772.4(EPS8L2):c.1282G>A (p.Asp428Asn)	EPS8L2 (D428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089952	NM_022772.4(EPS8L2):c.1207C>T (p.Arg403Cys)	EPS8L2 (R403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089951	NM_022772.4(EPS8L2):c.1191G>C (p.Glu397Asp)	EPS8L2 (E397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3058281	NM_022772.4(EPS8L2):c.1754-8C>A	EPS8L2	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
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 3049692	NM_022772.4(EPS8L2):c.1341+5G>C	EPS8L2	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 3047559	NM_022772.4(EPS8L2):c.*9G>A	EPS8L2	Single nucleotide variant (3 prime UTR variant)	EPS8L2-related disorder	GLikely benign
Select item 3038292	NM_022772.4(EPS8L2):c.2133G>A (p.Arg711=)	EPS8L2	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3037027	NM_022772.4(EPS8L2):c.44+9T>A	EPS8L2	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 3036948	NM_022772.4(EPS8L2):c.984+4G>A	EPS8L2	Single nucleotide variant (intron variant)	EPS8L2-related disorder	GLikely benign
Select item 3031855	NM_022772.4(EPS8L2):c.672G>T (p.Val224=)	EPS8L2, LOC130005078	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
Select item 3030244	NM_022772.4(EPS8L2):c.762G>A (p.Lys254=)	EPS8L2	Single nucleotide variant (synonymous variant)	EPS8L2-related disorder	GLikely benign
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 3026068	NM_022772.4(EPS8L2):c.*449G>A	EPS8L2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3025158	NM_022772.4(EPS8L2):c.2001G>A (p.Lys667=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	ANO9, B4GALNT4 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3023934	NM_022772.4(EPS8L2):c.1926C>T (p.Phe642=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019994	NM_022772.4(EPS8L2):c.216C>T (p.Asp72=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001475	NM_022772.4(EPS8L2):c.2068-15A>G	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994658	NM_022772.4(EPS8L2):c.991C>T (p.Leu331=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	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 2989705	NM_022772.4(EPS8L2):c.396C>T (p.Tyr132=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981139	NM_022772.4(EPS8L2):c.1983C>T (p.Leu661=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978044	NM_022772.4(EPS8L2):c.2133G>T (p.Arg711Ser)	EPS8L2 (R711S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977937	NM_022772.4(EPS8L2):c.831C>T (p.Ala277=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977931	NM_022772.4(EPS8L2):c.1060A>G (p.Ile354Val)	EPS8L2 (I354V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973898	NM_022772.4(EPS8L2):c.1934+10G>A	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 2965457	NM_022772.4(EPS8L2):c.1934+15G>A	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956273	NM_022772.4(EPS8L2):c.2068-4C>G	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920177	NM_022772.4(EPS8L2):c.1196G>C (p.Trp399Ser)	EPS8L2 (W399S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909805	NM_022772.4(EPS8L2):c.641G>A (p.Gly214Asp)	EPS8L2, LOC130005078 (G214D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905349	NM_022772.4(EPS8L2):c.1896G>A (p.Glu632=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901013	NM_022772.4(EPS8L2):c.984+8C>A	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895754	NM_022772.4(EPS8L2):c.1002C>T (p.His334=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892716	NM_022772.4(EPS8L2):c.1221G>A (p.Pro407=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891418	NM_022772.4(EPS8L2):c.978C>T (p.Asn326=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882108	NM_022772.4(EPS8L2):c.1077T>C (p.Ser359=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877339	NM_022772.4(EPS8L2):c.1560+7G>T	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 2819321	NM_022772.4(EPS8L2):c.1704del (p.Ala569fs)	EPS8L2 (A569fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2807991	NM_022772.4(EPS8L2):c.1850G>C (p.Ser617Thr)	EPS8L2 (S617T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2799427	NM_022772.4(EPS8L2):c.1992G>A (p.Glu664=)	EPS8L2, LOC130005081	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790441	NM_022772.4(EPS8L2):c.478-10G>A	EPS8L2, LOC130005076	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779309	NM_022772.4(EPS8L2):c.1017C>G (p.Ser339Arg)	EPS8L2 (S339R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2749512	NM_022772.4(EPS8L2):c.768+10C>T	EPS8L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747955	NM_022772.4(EPS8L2):c.640G>A (p.Gly214Ser)	EPS8L2, LOC130005078 (G214S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2728428	NM_022772.4(EPS8L2):c.63C>T (p.Ser21=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726680	NM_022772.4(EPS8L2):c.1099G>A (p.Val367Ile)	EPS8L2 (V367I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722708	NM_022772.4(EPS8L2):c.903C>T (p.Val301=)	EPS8L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699561	NM_022772.4(EPS8L2):c.1753+10G>A	EPS8L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2697395	NM_022772.4(EPS8L2):c.2068-15_2068-14insACCCCA	EPS8L2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic

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