EML5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 645863	NC_000014.8:g.(?_88852143)_(89343774_?)dup	EML5, LOC129390658 +13 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 147789	GRCh38/hg38 14q31.3(chr14:88463741-88715010)x1	EML5, LOC130056227 +7 more	Copy number loss	See cases	GUncertain significance
Select item 3088726	NM_183387.3(EML5):c.5911A>G (p.Lys1971Glu)	EML5, ZC3H14 (K1963E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088725	NM_183387.3(EML5):c.5807A>T (p.Lys1936Ile)	EML5, ZC3H14 (K1936I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561333	NM_183387.3(EML5):c.5624C>G (p.Thr1875Ser)	EML5, ZC3H14 (T1872S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389426	NM_183387.3(EML5):c.5597T>C (p.Met1866Thr)	EML5, ZC3H14 (M1858T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591703	NM_183387.3(EML5):c.5588A>G (p.Lys1863Arg)	EML5, ZC3H14 (K1855R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408029	NM_183387.3(EML5):c.5570A>G (p.Tyr1857Cys)	EML5, ZC3H14 (Y1857C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088724	NM_183387.3(EML5):c.5561G>T (p.Arg1854Leu)	EML5, ZC3H14 (R1854L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088723	NM_183387.3(EML5):c.5495T>C (p.Phe1832Ser)	EML5, ZC3H14 (F1824S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313186	NM_183387.3(EML5):c.5468T>C (p.Ile1823Thr)	EML5, ZC3H14 (I1820T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549662	NM_183387.3(EML5):c.5449G>C (p.Gly1817Arg)	EML5, ZC3H14 (G1814R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260993	NM_183387.3(EML5):c.5417A>G (p.Glu1806Gly)	EML5, ZC3H14 (E1806G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 709293	NM_183387.3(EML5):c.5360C>A (p.Ala1787Glu)	EML5, ZC3H14 (A1787E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3088722	NM_183387.3(EML5):c.5237C>T (p.Ala1746Val)	EML5, ZC3H14 (A1738V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088721	NM_183387.3(EML5):c.5207T>C (p.Met1736Thr)	EML5, ZC3H14 (M1728T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 402826	NM_183387.3(EML5):c.5203-25dup	EML5, ZC3H14	Duplication (3 prime UTR variant +1 more)	not specified	GBenign
Select item 3088720	NM_183387.3(EML5):c.5174C>T (p.Thr1725Ile)	ZC3H14, EML5 (T1722I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088719	NM_183387.3(EML5):c.5019G>T (p.Lys1673Asn)	EML5, ZC3H14 (K1670N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613251	NM_183387.3(EML5):c.4993C>T (p.Arg1665Cys)	EML5, ZC3H14 (R1665C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088718	NM_183387.3(EML5):c.4952G>A (p.Arg1651His)	EML5, ZC3H14 (R1643H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088717	NM_183387.3(EML5):c.4846A>C (p.Met1616Leu)	EML5, ZC3H14 (M1608L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302868	NM_183387.3(EML5):c.4844C>T (p.Ala1615Val)	EML5, ZC3H14 (A1612V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088716	NM_183387.3(EML5):c.4817C>T (p.Ala1606Val)	EML5, ZC3H14 (A1598V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2644442	NM_183387.3(EML5):c.4812C>T (p.Ile1604=)	EML5, ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2553584	NM_183387.3(EML5):c.4746C>G (p.Asn1582Lys)	EML5, ZC3H14 (N1574K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088715	NM_183387.3(EML5):c.4723G>A (p.Ala1575Thr)	EML5, ZC3H14 (A1575T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366978	NM_183387.3(EML5):c.4706G>A (p.Arg1569Gln)	EML5, ZC3H14 (R1561Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510641	NM_183387.3(EML5):c.4694T>A (p.Leu1565Gln)	EML5, ZC3H14 (L1557Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305023	NM_183387.3(EML5):c.4555G>A (p.Gly1519Ser)	EML5, ZC3H14 (G1519S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538661	NM_183387.3(EML5):c.4539A>C (p.Lys1513Asn)	EML5, ZC3H14 (K1505N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088714	NM_183387.3(EML5):c.4366C>A (p.Pro1456Thr)	EML5 (P1456T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544074	NM_183387.3(EML5):c.4261C>T (p.His1421Tyr)	EML5 (H1418Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088713	NM_183387.3(EML5):c.4169A>G (p.Tyr1390Cys)	EML5 (Y1390C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773724	NM_183387.3(EML5):c.4083A>G (p.Val1361=)	EML5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2564361	NM_183387.3(EML5):c.3994A>G (p.Ile1332Val)	EML5 (I1332V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537050	NM_183387.3(EML5):c.3952A>G (p.Met1318Val)	EML5 (M1318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371084	NM_183387.3(EML5):c.3946C>T (p.Arg1316Cys)	EML5 (R1316C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240876	NM_183387.3(EML5):c.3892G>A (p.Val1298Ile)	EML5 (V1298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558364	NM_183387.3(EML5):c.3821G>A (p.Arg1274Gln)	EML5 (R1274Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374176	NM_183387.3(EML5):c.3733C>T (p.Arg1245Cys)	EML5 (R1245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614795	NM_183387.3(EML5):c.3576A>C (p.Glu1192Asp)	EML5 (E1192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088711	NM_183387.3(EML5):c.3562C>A (p.Pro1188Thr)	EML5 (P1188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554160	NM_183387.3(EML5):c.3433G>A (p.Gly1145Ser)	EML5 (G1145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325244	NM_183387.3(EML5):c.3424G>A (p.Val1142Ile)	EML5 (V1142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644443	NM_183387.3(EML5):c.3387C>A (p.Thr1129=)	EML5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2562195	NM_183387.3(EML5):c.3368G>C (p.Gly1123Ala)	EML5 (G1123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512399	NM_183387.3(EML5):c.3209A>G (p.Asp1070Gly)	EML5 (D1070G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088710	NM_183387.3(EML5):c.3196A>G (p.Met1066Val)	EML5 (M1066V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598566	NM_183387.3(EML5):c.3169G>A (p.Val1057Ile)	EML5 (V1057I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58333	GRCh38/hg38 14q31.3(chr14:88680251-89032671)x3	EML5, LOC126862017 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2471005	NM_183387.3(EML5):c.3123G>T (p.Lys1041Asn)	EML5 (K1041N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237388	NM_183387.3(EML5):c.3021C>A (p.His1007Gln)	EML5 (H1007Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539959	NM_183387.3(EML5):c.2933G>A (p.Gly978Asp)	EML5 (G978D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298164	NM_183387.3(EML5):c.2906G>A (p.Gly969Asp)	EML5 (G969D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543715	NM_183387.3(EML5):c.2848T>C (p.Ser950Pro)	EML5 (S950P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263230	NM_183387.3(EML5):c.2702C>T (p.Ala901Val)	EML5 (A901V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209253	NM_183387.3(EML5):c.2698A>G (p.Lys900Glu)	EML5 (K900E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473369	NM_183387.3(EML5):c.2633C>T (p.Ala878Val)	EML5 (A878V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346816	NM_183387.3(EML5):c.2589T>A (p.Asn863Lys)	EML5 (N863K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476657	NM_183387.3(EML5):c.2554G>A (p.Gly852Arg)	EML5 (G852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302016	NM_183387.3(EML5):c.2470A>G (p.Met824Val)	EML5 (M824V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088707	NM_183387.3(EML5):c.2026A>C (p.Ser676Arg)	EML5 (S676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088706	NM_183387.3(EML5):c.1990G>T (p.Ala664Ser)	EML5 (A664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285226	NM_183387.3(EML5):c.1984A>C (p.Lys662Gln)	EML5 (K662Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588262	NM_183387.3(EML5):c.1967A>G (p.Gln656Arg)	EML5 (Q656R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280864	NM_183387.3(EML5):c.1844A>G (p.His615Arg)	EML5 (H615R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509369	NM_183387.3(EML5):c.1843C>T (p.His615Tyr)	EML5 (H615Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088705	NM_183387.3(EML5):c.1834G>A (p.Ala612Thr)	EML5 (A612T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088704	NM_183387.3(EML5):c.1757A>G (p.His586Arg)	EML5 (H586R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204234	NM_183387.3(EML5):c.1709G>A (p.Arg570Lys)	EML5 (R570K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558752	NM_183387.3(EML5):c.1673A>G (p.Lys558Arg)	EML5 (K558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088703	NM_183387.3(EML5):c.1648T>G (p.Leu550Val)	EML5 (L550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088702	NM_183387.3(EML5):c.1570G>T (p.Val524Leu)	EML5 (V524L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088701	NM_183387.3(EML5):c.1558G>T (p.Asp520Tyr)	EML5 (D520Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088700	NM_183387.3(EML5):c.1556A>G (p.Asn519Ser)	EML5 (N519S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088699	NM_183387.3(EML5):c.1465A>T (p.Thr489Ser)	EML5 (T489S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329948	NM_183387.3(EML5):c.1411G>A (p.Gly471Arg)	EML5 (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605798	NM_183387.3(EML5):c.1402A>G (p.Thr468Ala)	EML5 (T468A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088698	NM_183387.3(EML5):c.1392A>C (p.Arg464Ser)	EML5 (R464S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088697	NM_183387.3(EML5):c.1307G>C (p.Gly436Ala)	EML5 (G436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208731	NM_183387.3(EML5):c.1133G>A (p.Gly378Glu)	EML5 (G378E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280119	NM_183387.3(EML5):c.1043C>T (p.Ser348Leu)	EML5 (S348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088729	NM_183387.3(EML5):c.898A>G (p.Thr300Ala)	EML5 (T300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088728	NM_183387.3(EML5):c.881A>G (p.Asp294Gly)	EML5 (D294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266612	NM_183387.3(EML5):c.733G>A (p.Ala245Thr)	EML5 (A245T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088727	NM_183387.3(EML5):c.710C>T (p.Ala237Val)	EML5 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770998	NM_183387.3(EML5):c.581C>T (p.Thr194Met)	EML5 (T194M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3088712	NM_183387.3(EML5):c.395T>C (p.Val132Ala)	EML5 (V132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464373	NM_183387.3(EML5):c.286C>A (p.Gln96Lys)	EML5 (Q96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088708	NM_183387.3(EML5):c.241G>A (p.Val81Ile)	EML5 (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance

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