EPHA10[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2323535	NM_001099439.2(EPHA10):c.2965A>G (p.Ser989Gly)	EPHA10 (S989G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275896	NM_001099439.2(EPHA10):c.2879G>A (p.Gly960Glu)	EPHA10 (G960E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275890	NM_001099439.2(EPHA10):c.2864C>T (p.Ala955Val)	EPHA10 (A955V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605440	NM_001099439.2(EPHA10):c.2849A>G (p.Tyr950Cys)	EPHA10 (Y950C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089546	NM_001099439.2(EPHA10):c.2843G>C (p.Cys948Ser)	EPHA10 (C948S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638678	NM_001099439.2(EPHA10):c.2799C>T (p.Pro933=)	EPHA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3089545	NM_001099439.2(EPHA10):c.2779C>T (p.Arg927Cys)	EPHA10 (R927C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384848	NM_001099439.2(EPHA10):c.2741T>C (p.Leu914Pro)	EPHA10 (L914P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275889	NM_001099439.2(EPHA10):c.2729C>T (p.Pro910Leu)	EPHA10 (P910L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089544	NM_001099439.2(EPHA10):c.2683C>G (p.Gln895Glu)	EPHA10 (Q895E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089543	NM_001099439.2(EPHA10):c.2605A>G (p.Arg869Gly)	EPHA10 (R869G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376236	NM_001099439.2(EPHA10):c.2603C>T (p.Pro868Leu)	EPHA10 (P868L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275893	NM_001099439.2(EPHA10):c.2591G>A (p.Arg864Gln)	EPHA10 (R864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089541	NM_001099439.2(EPHA10):c.2485G>A (p.Val829Met)	EPHA10 (V829M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403386	NM_001099439.2(EPHA10):c.2443C>T (p.Pro815Ser)	EPHA10 (P815S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524597	NM_001099439.2(EPHA10):c.2440G>A (p.Ala814Thr)	EPHA10 (A814T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365629	NM_001099439.2(EPHA10):c.2419C>T (p.Arg807Trp)	EPHA10 (R807W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597049	NM_001099439.2(EPHA10):c.2392G>A (p.Glu798Lys)	EPHA10 (E798K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403480	NM_001099439.2(EPHA10):c.2387G>C (p.Arg796Pro)	EPHA10 (R796P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218535	NM_001099439.2(EPHA10):c.2371C>T (p.Arg791Trp)	EPHA10 (R791W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339667	NM_001099439.2(EPHA10):c.2341G>A (p.Asp781Asn)	EPHA10 (D781N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412560	NM_001099439.2(EPHA10):c.2321G>T (p.Arg774Leu)	EPHA10 (R774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089540	NM_001099439.2(EPHA10):c.2306G>A (p.Arg769Gln)	EPHA10 (R769Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089539	NM_001099439.2(EPHA10):c.2176A>G (p.Met726Val)	EPHA10 (M726V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089538	NM_001099439.2(EPHA10):c.2170G>A (p.Glu724Lys)	EPHA10 (E724K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386031	NM_001099439.2(EPHA10):c.2144G>A (p.Arg715Gln)	EPHA10 (R715Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089537	NM_001099439.2(EPHA10):c.2122C>T (p.Arg708Trp)	EPHA10 (R708W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089536	NM_001099439.2(EPHA10):c.2119G>C (p.Val707Leu)	EPHA10 (V707L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089535	NM_001099439.2(EPHA10):c.2080G>A (p.Glu694Lys)	EPHA10 (E694K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089534	NM_001099439.2(EPHA10):c.2068G>C (p.Gly690Arg)	EPHA10 (G690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236788	NM_001099439.2(EPHA10):c.2029C>T (p.His677Tyr)	EPHA10 (H677Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526015	NM_001099439.2(EPHA10):c.2026G>A (p.Val676Met)	EPHA10 (V676M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561100	NM_001099439.2(EPHA10):c.2002G>C (p.Gly668Arg)	EPHA10 (G668R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229264	NM_001099439.2(EPHA10):c.1931G>A (p.Ser644Asn)	EPHA10 (S644N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089533	NM_001099439.2(EPHA10):c.1909G>A (p.Ala637Thr)	EPHA10 (A637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351610	NM_001099439.2(EPHA10):c.1894G>C (p.Ala632Pro)	EPHA10 (A632P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089532	NM_001099439.2(EPHA10):c.1874G>T (p.Ser625Ile)	EPHA10 (S625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026426	NM_001099439.2(EPHA10):c.1870C>T (p.Gln624Ter)	EPHA10 (Q624*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2638679	NM_001099439.2(EPHA10):c.1853G>A (p.Arg618His)	EPHA10 (R618H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2275312	NM_001099439.2(EPHA10):c.1816G>A (p.Glu606Lys)	EPHA10 (E606K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275894	NM_001099439.2(EPHA10):c.1774C>T (p.Pro592Ser)	EPHA10 (P592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597970	NM_001099439.2(EPHA10):c.1744G>A (p.Val582Met)	EPHA10 (V582M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775533	NM_001099439.2(EPHA10):c.1721C>T (p.Ser574Leu)	EPHA10 (S574L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3089531	NM_001099439.2(EPHA10):c.1678A>G (p.Arg560Gly)	EPHA10 (R560G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089530	NM_001099439.2(EPHA10):c.1658G>A (p.Gly553Glu)	EPHA10 (G553E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465042	NM_001099439.2(EPHA10):c.1629T>G (p.Phe543Leu)	EPHA10 (F543L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638680	NM_001099439.2(EPHA10):c.1602G>A (p.Pro534=)	EPHA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775534	NM_001099439.2(EPHA10):c.1594G>A (p.Ala532Thr)	EPHA10 (A532T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3089528	NM_001099439.2(EPHA10):c.1546G>A (p.Val516Ile)	EPHA10 (V516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403385	NM_001099439.2(EPHA10):c.1471G>C (p.Glu491Gln)	EPHA10 (E491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589301	NM_001099439.2(EPHA10):c.1372G>T (p.Asp458Tyr)	EPHA10 (D458Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089527	NM_001099439.2(EPHA10):c.1349G>T (p.Gly450Val)	EPHA10 (G450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089526	NM_001099439.2(EPHA10):c.1331A>G (p.Gln444Arg)	EPHA10 (Q444R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513266	NM_001099439.2(EPHA10):c.1328C>T (p.Ala443Val)	EPHA10 (A443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411393	NM_001099439.2(EPHA10):c.1292T>C (p.Val431Ala)	EPHA10 (V431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638681	NM_001099439.2(EPHA10):c.1236G>A (p.Leu412=)	EPHA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377398	NM_001099439.2(EPHA10):c.1208C>A (p.Ala403Glu)	EPHA10 (A403E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380469	NM_001099439.2(EPHA10):c.1162G>A (p.Ala388Thr)	EPHA10 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089524	NM_001099439.2(EPHA10):c.1106C>T (p.Ser369Leu)	EPHA10 (S369L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290628	NM_001099439.2(EPHA10):c.1082C>T (p.Pro361Leu)	EPHA10 (P361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292365	NM_001099439.2(EPHA10):c.1000T>G (p.Cys334Gly)	EPHA10 (C334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344187	NM_001099439.2(EPHA10):c.968C>A (p.Ala323Glu)	EPHA10 (A323E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275895	NM_001099439.2(EPHA10):c.949G>A (p.Val317Met)	EPHA10 (V317M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275891	NM_001099439.2(EPHA10):c.938C>T (p.Ser313Phe)	EPHA10 (S313F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341875	NM_001099439.2(EPHA10):c.809G>A (p.Ser270Asn)	EPHA10 (S270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401870	NM_001099439.2(EPHA10):c.755C>A (p.Pro252Gln)	EPHA10 (P252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250534	NM_001099439.2(EPHA10):c.749G>A (p.Ser250Asn)	EPHA10 (S250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089556	NM_001099439.2(EPHA10):c.742C>A (p.Pro248Thr)	EPHA10 (P248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089554	NM_001099439.2(EPHA10):c.722T>G (p.Val241Gly)	EPHA10 (V241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291566	NM_001099439.2(EPHA10):c.671C>A (p.Thr224Asn)	EPHA10 (T224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089553	NM_001099439.2(EPHA10):c.637G>A (p.Ala213Thr)	EPHA10 (A213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089552	NM_001099439.2(EPHA10):c.608C>T (p.Ser203Leu)	EPHA10 (S203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089551	NM_001099439.2(EPHA10):c.545C>G (p.Pro182Arg)	EPHA10 (P182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065343	NM_001099439.2(EPHA10):c.541G>T (p.Gly181Ter)	EPHA10 (G181*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal dominant 88	GUncertain significance
Select item 2329999	NM_001099439.2(EPHA10):c.537G>C (p.Glu179Asp)	EPHA10 (E179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089550	NM_001099439.2(EPHA10):c.530T>C (p.Val177Ala)	EPHA10 (V177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089549	NM_001099439.2(EPHA10):c.524C>T (p.Thr175Ile)	EPHA10 (T175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461015	NM_001099439.2(EPHA10):c.448C>A (p.Arg150Ser)	EPHA10 (R150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212187	NM_001099439.2(EPHA10):c.443G>A (p.Arg148Gln)	EPHA10 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275897	NM_001099439.2(EPHA10):c.442C>G (p.Arg148Gly)	EPHA10 (R148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341926	NM_001099439.2(EPHA10):c.427C>T (p.Arg143Cys)	EPHA10 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089547	NM_001099439.2(EPHA10):c.382G>A (p.Val128Ile)	EPHA10 (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256223	NM_001099439.2(EPHA10):c.271G>A (p.Gly91Ser)	EPHA10 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275892	NM_001099439.2(EPHA10):c.109A>T (p.Ile37Phe)	EPHA10 (I37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226740	NM_001099439.2(EPHA10):c.86G>T (p.Arg29Leu)	EPHA10 (R29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325083	NM_001099439.2(EPHA10):c.80C>G (p.Pro27Arg)	EPHA10 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338082	NM_001099439.2(EPHA10):c.24C>G (p.His8Gln)	EPHA10 (H8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698698	NM_001099439.1(EPHA10):c.-81_-73delTGGGGTCTGinsAGC	EPHA10	Indel	Hearing loss, autosomal dominant 88 +1 more	GPathogenic
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
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: 98