EPS8L3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	EPS8L3-related disorder +1 more	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)	EPS8L3-related disorder +1 more	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 75