3391[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 2325105	NM_020526.5(EPHA8):c.121C>T (p.His41Tyr)	EPHA8 (H41Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242891	NM_020526.5(EPHA8):c.230G>A (p.Ser77Asn)	EPHA8 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470155	NM_020526.5(EPHA8):c.239A>G (p.Gln80Arg)	EPHA8 (Q80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1205951	NM_020526.5(EPHA8):c.277G>A (p.Gly93Ser)	EPHA8 (G93S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2546472	NM_020526.5(EPHA8):c.304A>C (p.Lys102Gln)	EPHA8 (K102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089644	NM_020526.5(EPHA8):c.349A>C (p.Thr117Pro)	EPHA8 (T117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275944	NM_020526.5(EPHA8):c.383A>C (p.Glu128Ala)	EPHA8 (E128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527139	NM_020526.5(EPHA8):c.391C>T (p.Arg131Cys)	EPHA8 (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369370	NM_020526.5(EPHA8):c.403G>T (p.Ala135Ser)	EPHA8 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328319	NM_020526.5(EPHA8):c.433A>C (p.Ile145Leu)	EPHA8 (I145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507553	NM_020526.5(EPHA8):c.442A>G (p.Ile148Val)	EPHA8 (I148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089645	NM_020526.5(EPHA8):c.448G>A (p.Ala150Thr)	EPHA8 (A150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247276	NM_020526.5(EPHA8):c.460T>C (p.Phe154Leu)	EPHA8 (F154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275943	NM_020526.5(EPHA8):c.478G>A (p.Gly160Ser)	EPHA8 (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552710	NM_020526.5(EPHA8):c.551C>T (p.Ala184Val)	EPHA8 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089646	NM_020526.5(EPHA8):c.629A>G (p.Asn210Ser)	EPHA8 (N210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773392	NM_020526.5(EPHA8):c.631C>T (p.Leu211=)	EPHA8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2611273	NM_020526.5(EPHA8):c.706C>G (p.His236Asp)	EPHA8 (H236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089647	NM_020526.5(EPHA8):c.718C>T (p.Arg240Trp)	EPHA8 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590930	NM_020526.5(EPHA8):c.742A>G (p.Ser248Gly)	EPHA8 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254152	NM_020526.5(EPHA8):c.752G>T (p.Gly251Val)	EPHA8 (G251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238034	NM_020526.5(EPHA8):c.760C>T (p.Leu254Phe)	EPHA8 (L254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210195	NM_020526.5(EPHA8):c.760C>G (p.Leu254Val)	EPHA8 (L254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596400	NM_020526.5(EPHA8):c.806G>A (p.Arg269Gln)	EPHA8 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089648	NM_020526.5(EPHA8):c.944G>A (p.Arg315His)	EPHA8 (R315H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089649	NM_020526.5(EPHA8):c.989C>T (p.Ser330Leu)	EPHA8 (S330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089627	NM_020526.5(EPHA8):c.1021G>T (p.Gly341Trp)	EPHA8 (G341W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291103	NM_020526.5(EPHA8):c.1093G>A (p.Val365Met)	EPHA8 (V365M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599731	NM_020526.5(EPHA8):c.1114G>A (p.Ala372Thr)	EPHA8 (A372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089628	NM_020526.5(EPHA8):c.1133C>T (p.Ala378Val)	EPHA8 (A378V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514664	NM_020526.5(EPHA8):c.1144G>A (p.Gly382Ser)	EPHA8 (G382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089629	NM_020526.5(EPHA8):c.1173C>A (p.Ser391Arg)	EPHA8 (S391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275945	NM_020526.5(EPHA8):c.1252G>A (p.Val418Met)	EPHA8 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616670	NM_020526.5(EPHA8):c.1258G>A (p.Asp420Asn)	EPHA8 (D420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089630	NM_020526.5(EPHA8):c.1340G>A (p.Arg447His)	EPHA8 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382535	NM_020526.5(EPHA8):c.1349G>A (p.Arg450Gln)	EPHA8 (R450Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089631	NM_020526.5(EPHA8):c.1396C>T (p.Pro466Ser)	EPHA8 (P466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593842	NM_020526.5(EPHA8):c.1455G>T (p.Gln485His)	EPHA8 (Q485H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720218	NM_020526.5(EPHA8):c.1524C>T (p.Tyr508=)	EPHA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3089632	NM_020526.5(EPHA8):c.1543C>T (p.Arg515Cys)	EPHA8 (R515C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275950	NM_020526.5(EPHA8):c.1658G>T (p.Gly553Val)	EPHA8 (G553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274793	NM_020526.5(EPHA8):c.1673T>C (p.Leu558Pro)	EPHA8 (L558P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362313	NM_020526.5(EPHA8):c.1744A>T (p.Met582Leu)	EPHA8 (M582L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203868	NM_020526.5(EPHA8):c.1747C>T (p.His583Tyr)	EPHA8 (H583Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533339	NM_020526.5(EPHA8):c.1754A>C (p.Gln585Pro)	EPHA8 (Q585P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638468	NM_020526.5(EPHA8):c.1765+7G>T	EPHA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2377112	NM_020526.5(EPHA8):c.1819C>A (p.Pro607Thr)	EPHA8 (P607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382713	NM_020526.5(EPHA8):c.1864G>A (p.Ala622Thr)	EPHA8 (A622T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309003	NM_020526.5(EPHA8):c.1879A>G (p.Thr627Ala)	EPHA8 (T627A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618385	NM_020526.5(EPHA8):c.1882C>T (p.Arg628Trp)	EPHA8 (R628W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465143	NM_020526.5(EPHA8):c.1885G>C (p.Glu629Gln)	EPHA8 (E629Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089633	NM_020526.5(EPHA8):c.1944A>C (p.Glu648Asp)	EPHA8 (E648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275942	NM_020526.5(EPHA8):c.1963C>T (p.Arg655Trp)	EPHA8 (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089634	NM_020526.5(EPHA8):c.1972G>A (p.Gly658Arg)	EPHA8 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232254	NM_020526.5(EPHA8):c.1979G>A (p.Arg660Gln)	EPHA8 (R660Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305494	NM_020526.5(EPHA8):c.1996A>C (p.Ile666Leu)	EPHA8 (I666L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253215	NM_020526.5(EPHA8):c.2021C>A (p.Thr674Lys)	EPHA8 (T674K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275946	NM_020526.5(EPHA8):c.2025G>C (p.Glu675Asp)	EPHA8 (E675D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379765	NM_020526.5(EPHA8):c.2035C>T (p.Arg679Trp)	EPHA8 (R679W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241143	NM_020526.5(EPHA8):c.2053G>A (p.Ala685Thr)	EPHA8 (A685T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355002	NM_020526.5(EPHA8):c.2093G>A (p.Arg698His)	EPHA8 (R698H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089635	NM_020526.5(EPHA8):c.2114G>A (p.Arg705His)	EPHA8 (R705H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783279	NM_020526.5(EPHA8):c.2119C>T (p.Arg707Cys)	EPHA8 (R707C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3025027	NM_020526.5(EPHA8):c.2179-7C>T	EPHA8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2260228	NM_020526.5(EPHA8):c.2200A>G (p.Ile734Val)	EPHA8 (I734V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341159	NM_020526.5(EPHA8):c.2206C>G (p.Gln736Glu)	EPHA8 (Q736E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089636	NM_020526.5(EPHA8):c.2219T>C (p.Met740Thr)	EPHA8 (M740T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473106	NM_020526.5(EPHA8):c.2227G>A (p.Gly743Arg)	EPHA8 (G743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559709	NM_020526.5(EPHA8):c.2245C>T (p.Arg749Cys)	EPHA8 (R749C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551256	NM_020526.5(EPHA8):c.2276G>A (p.Arg759Gln)	EPHA8 (R759Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294936	NM_020526.5(EPHA8):c.2290C>G (p.Arg764Gly)	EPHA8 (R764G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089637	NM_020526.5(EPHA8):c.2291G>A (p.Arg764His)	EPHA8 (R764H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275938	NM_020526.5(EPHA8):c.2296G>A (p.Val766Ile)	EPHA8 (V766I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275949	NM_020526.5(EPHA8):c.2362G>A (p.Asp788Asn)	EPHA8 (D788N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247451	NM_020526.5(EPHA8):c.2365C>G (p.Pro789Ala)	EPHA8 (P789A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089638	NM_020526.5(EPHA8):c.2387C>T (p.Thr796Met)	EPHA8 (T796M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550930	NM_020526.5(EPHA8):c.2414C>T (p.Thr805Met)	EPHA8 (T805M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089639	NM_020526.5(EPHA8):c.2437C>T (p.Arg813Cys)	EPHA8 (R813C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748411	NM_020526.5(EPHA8):c.2490G>A (p.Glu830=)	EPHA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392937	NM_020526.5(EPHA8):c.2510G>A (p.Arg837Gln)	EPHA8 (R837Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244647	NM_020526.5(EPHA8):c.2532C>G (p.Asn844Lys)	EPHA8 (N844K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089640	NM_020526.5(EPHA8):c.2534G>A (p.Arg845Gln)	EPHA8 (R845Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266865	NM_020526.5(EPHA8):c.2538+11A>G	EPHA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 623446	NM_020526.5(EPHA8):c.2567G>A (p.Arg856His)	EPHA8 (R856H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 3275940	NM_020526.5(EPHA8):c.2597C>T (p.Ala866Val)	EPHA8 (A866V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205286	NM_020526.5(EPHA8):c.2617G>A (p.Asp873Asn)	EPHA8 (D873N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329860	NM_020526.5(EPHA8):c.2630A>G (p.Lys877Arg)	EPHA8 (K877R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791605	NM_020526.5(EPHA8):c.2651G>A (p.Arg884His)	EPHA8 (R884H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3275939	NM_020526.5(EPHA8):c.2716G>A (p.Ala906Thr)	EPHA8 (A906T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363580	NM_020526.5(EPHA8):c.2716G>T (p.Ala906Ser)	EPHA8 (A906S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275948	NM_020526.5(EPHA8):c.2735C>T (p.Pro912Leu)	EPHA8 (P912L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293041	NM_020526.5(EPHA8):c.2737C>T (p.Pro913Ser)	EPHA8 (P913S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089641	NM_020526.5(EPHA8):c.2753G>A (p.Arg918Gln)	EPHA8 (R918Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605441	NM_020526.5(EPHA8):c.2765A>G (p.Asp922Gly)	EPHA8 (D922G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089642	NM_020526.5(EPHA8):c.2803G>A (p.Val935Met)	EPHA8 (V935M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358989	NM_020526.5(EPHA8):c.2836C>T (p.Arg946Trp)	EPHA8 (R946W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089643	NM_020526.5(EPHA8):c.2837G>A (p.Arg946Gln)	EPHA8 (R946Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275941	NM_020526.5(EPHA8):c.2854G>A (p.Ala952Thr)	EPHA8 (A952T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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