EPS8L3[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 2252568	NM_133181.4(EPS8L3):c.1682G>A (p.Arg561His)	EPS8L3, LOC126805823 (R561H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 713674	NM_133181.4(EPS8L3):c.1666G>A (p.Gly556Arg)	EPS8L3, LOC126805823 (G493R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2607828	NM_133181.4(EPS8L3):c.1649C>T (p.Thr550Ile)	EPS8L3, LOC126805823 (T487I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045009	NM_133181.4(EPS8L3):c.1594G>A (p.Glu532Lys)	EPS8L3, LOC126805823 (E469K +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2538970	NM_133181.4(EPS8L3):c.1590G>T (p.Arg530Ser)	EPS8L3, LOC126805823 (R500S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547842	NM_133181.4(EPS8L3):c.1572G>A (p.Met524Ile)	EPS8L3, LOC126805823 (M494I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224178	NM_133181.4(EPS8L3):c.1562G>A (p.Arg521Gln)	EPS8L3 (R491Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711967	NM_133181.4(EPS8L3):c.1443C>T (p.Asp481=)	EPS8L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2455036	NM_133181.4(EPS8L3):c.1409C>A (p.Thr470Asn)	EPS8L3 (T471N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089972	NM_133181.4(EPS8L3):c.1400G>A (p.Arg467Gln)	EPS8L3 (R468Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089971	NM_133181.4(EPS8L3):c.1378G>A (p.Glu460Lys)	EPS8L3 (E397K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597982	NM_133181.4(EPS8L3):c.1358T>C (p.Leu453Pro)	EPS8L3 (L423P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2490940	NM_133181.4(EPS8L3):c.1334G>T (p.Ser445Ile)	EPS8L3 (S415I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638986	NM_133181.4(EPS8L3):c.1326G>A (p.Arg442=)	EPS8L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250820	NM_133181.4(EPS8L3):c.1165T>G (p.Ser389Ala)	EPS8L3 (S356A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2601065	NM_133181.4(EPS8L3):c.1081C>A (p.Leu361Ile)	EPS8L3 (L328I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253589	NM_133181.4(EPS8L3):c.1080C>A (p.Asn360Lys)	EPS8L3 (N327K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464040	NM_133181.4(EPS8L3):c.1075A>G (p.Ser359Gly)	EPS8L3 (S360G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089980	NM_133181.4(EPS8L3):c.980G>C (p.Arg327Thr)	EPS8L3 (R328T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517788	NM_133181.4(EPS8L3):c.954C>A (p.Phe318Leu)	EPS8L3 (F285L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306001	NM_133181.4(EPS8L3):c.845C>T (p.Ala282Val)	EPS8L3 (A249V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515411	NM_133181.4(EPS8L3):c.836T>C (p.Leu279Pro)	EPS8L3 (L246P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490378	NM_133181.4(EPS8L3):c.829G>A (p.Gly277Arg)	EPS8L3 (G277R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606415	NM_133181.4(EPS8L3):c.730C>T (p.His244Tyr)	EPS8L3 (H211Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089979	NM_133181.4(EPS8L3):c.697G>C (p.Glu233Gln)	EPS8L3 (E233Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215797	NM_133181.4(EPS8L3):c.661T>C (p.Phe221Leu)	EPS8L3 (F222L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401181	NM_133181.4(EPS8L3):c.643G>A (p.Ala215Thr)	EPS8L3 (A216T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276126	NM_133181.4(EPS8L3):c.638C>G (p.Thr213Ser)	EPS8L3 (T213S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470715	NM_133181.4(EPS8L3):c.631C>T (p.Arg211Cys)	EPS8L3 (R211C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527397	NM_133181.4(EPS8L3):c.626T>C (p.Leu209Pro)	EPS8L3 (L176P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276125	NM_133181.4(EPS8L3):c.595G>C (p.Glu199Gln)	EPS8L3 (E199Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493811	NM_133181.4(EPS8L3):c.569C>T (p.Pro190Leu)	EPS8L3 (P190L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373778	NM_133181.4(EPS8L3):c.557C>T (p.Pro186Leu)	EPS8L3 (P186L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315015	NM_133181.4(EPS8L3):c.526C>T (p.Leu176Phe)	EPS8L3 (L176F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469501	NM_133181.4(EPS8L3):c.506G>A (p.Gly169Glu)	EPS8L3 (G136E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289178	NM_133181.4(EPS8L3):c.503G>T (p.Arg168Met)	EPS8L3 (R135M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027145	NM_133181.4(EPS8L3):c.490C>T (p.Gln164Ter)	EPS8L3 (Q131* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3089977	NM_133181.4(EPS8L3):c.482A>T (p.Gln161Leu)	EPS8L3 (Q161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547015	NM_133181.4(EPS8L3):c.450G>C (p.Glu150Asp)	EPS8L3 (E116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366299	NM_133181.4(EPS8L3):c.444G>T (p.Glu148Asp)	EPS8L3 (E114D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276129	NM_133181.4(EPS8L3):c.413G>A (p.Arg138Gln)	EPS8L3 (R104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1685047	NM_133181.4(EPS8L3):c.409G>C (p.Glu137Gln)	EPS8L3 (E103Q +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2379924	NM_133181.4(EPS8L3):c.356C>T (p.Pro119Leu)	EPS8L3 (P85L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729429	NM_133181.4(EPS8L3):c.222C>T (p.Asp74=)	EPS8L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089975	NM_133181.4(EPS8L3):c.211C>A (p.Gln71Lys)	EPS8L3 (Q37K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089974	NM_133181.4(EPS8L3):c.185G>A (p.Arg62Gln)	EPS8L3 (R28Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089973	NM_133181.4(EPS8L3):c.184C>T (p.Arg62Trp)	EPS8L3 (R62W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552800	NM_133181.4(EPS8L3):c.142G>A (p.Glu48Lys)	EPS8L3 (E48K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276124	NM_133181.4(EPS8L3):c.136G>A (p.Gly46Arg)	EPS8L3 (G12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470551	NM_133181.4(EPS8L3):c.107C>T (p.Thr36Ile)	EPS8L3 (T2I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041735	NM_133181.4(EPS8L3):c.105G>A (p.Met35Ile)	EPS8L3 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	EPS8L3-related disorder	GBenign
Select item 3276123	NM_133181.4(EPS8L3):c.71C>T (p.Pro24Leu)	EPS8L3 (P24L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2246041	NM_133181.4(EPS8L3):c.59T>C (p.Leu20Pro)	EPS8L3 (L20P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3089976	NM_133181.4(EPS8L3):c.46T>C (p.Tyr16His)	EPS8L3 (Y16H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 830234	NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr)	EPS8L3 (A8T)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 5	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 686929	GRCh37/hg19 1p13.3(chr1:110295035-110587956)x1	AHCYL1, CSF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 75