3503[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2362475	NM_001988.4(EVPL):c.6097C>T (p.Arg2033Cys)	EVPL (R2033C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454489	NM_001988.4(EVPL):c.6086C>A (p.Pro2029Gln)	EVPL (P2029Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519499	NM_001988.4(EVPL):c.6082G>A (p.Val2028Ile)	EVPL (V2028I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324664	NM_001988.4(EVPL):c.6077C>A (p.Pro2026His)	EVPL (P2026H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403131	NM_001988.4(EVPL):c.6064C>T (p.Arg2022Cys)	EVPL (R2044C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090905	NM_001988.4(EVPL):c.6019G>A (p.Gly2007Ser)	EVPL (G2029S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276697	NM_001988.4(EVPL):c.6018C>A (p.Ser2006Arg)	EVPL (S2006R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457030	NM_001988.4(EVPL):c.5996G>A (p.Arg1999His)	EVPL (R1999H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558754	NM_001988.4(EVPL):c.5983G>A (p.Glu1995Lys)	EVPL (E1995K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561648	NM_001988.4(EVPL):c.5969G>A (p.Arg1990Gln)	EVPL (R1990Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384124	NM_001988.4(EVPL):c.5968C>T (p.Arg1990Trp)	EVPL (R1990W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393423	NM_001988.4(EVPL):c.5884G>A (p.Gly1962Arg)	EVPL (G1962R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397632	NM_001988.4(EVPL):c.5846G>A (p.Arg1949Lys)	EVPL (R1949K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568258	NM_001988.4(EVPL):c.5824G>A (p.Gly1942Arg)	EVPL (G1964R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090903	NM_001988.4(EVPL):c.5802C>A (p.His1934Gln)	EVPL (H1934Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299701	NM_001988.4(EVPL):c.5791G>A (p.Val1931Met)	EVPL (V1953M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467808	NM_001988.4(EVPL):c.5785G>A (p.Glu1929Lys)	EVPL (E1951K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321526	NM_001988.4(EVPL):c.5782C>T (p.Arg1928Trp)	EVPL (R1950W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090902	NM_001988.4(EVPL):c.5761G>A (p.Val1921Ile)	EVPL (V1943I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090900	NM_001988.4(EVPL):c.5736G>C (p.Lys1912Asn)	EVPL (K1934N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276693	NM_001988.4(EVPL):c.5728G>A (p.Val1910Ile)	EVPL (V1910I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251193	NM_001988.4(EVPL):c.5645C>T (p.Ala1882Val)	EVPL (A1882V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491438	NM_001988.4(EVPL):c.5600G>A (p.Gly1867Asp)	EVPL (G1867D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457192	NM_001988.4(EVPL):c.5533G>A (p.Val1845Met)	EVPL (V1845M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090899	NM_001988.4(EVPL):c.5528C>T (p.Thr1843Met)	EVPL (T1843M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242893	NM_001988.4(EVPL):c.5485G>A (p.Gly1829Arg)	EVPL (G1829R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539211	NM_001988.4(EVPL):c.5482G>C (p.Ala1828Pro)	EVPL (A1850P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648286	NM_001988.4(EVPL):c.5460C>T (p.Leu1820=)	EVPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525341	NM_001988.4(EVPL):c.5455G>A (p.Gly1819Arg)	EVPL (G1841R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276680	NM_001988.4(EVPL):c.5441C>T (p.Pro1814Leu)	EVPL (P1814L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090898	NM_001988.4(EVPL):c.5438C>G (p.Ser1813Cys)	EVPL (S1835C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407080	NM_001988.4(EVPL):c.5438C>T (p.Ser1813Phe)	EVPL (S1813F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648287	NM_001988.4(EVPL):c.5376C>T (p.Ile1792=)	EVPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517945	NM_001988.4(EVPL):c.5360G>C (p.Ser1787Thr)	EVPL (S1809T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373268	NM_001988.4(EVPL):c.5351C>T (p.Thr1784Ile)	EVPL (T1784I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384123	NM_001988.4(EVPL):c.5330C>T (p.Ala1777Val)	EVPL (A1799V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090897	NM_001988.4(EVPL):c.5269C>T (p.Arg1757Cys)	EVPL (R1757C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309716	NM_001988.4(EVPL):c.5266C>T (p.Arg1756Trp)	EVPL (R1778W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603589	NM_001988.4(EVPL):c.5263T>G (p.Cys1755Gly)	EVPL (C1777G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509791	NM_001988.4(EVPL):c.5261G>A (p.Arg1754His)	EVPL (R1754H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306888	NM_001988.4(EVPL):c.5230G>A (p.Gly1744Arg)	EVPL (G1766R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237656	NM_001988.4(EVPL):c.5222G>A (p.Arg1741His)	EVPL (R1741H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550534	NM_001988.4(EVPL):c.5221C>T (p.Arg1741Cys)	EVPL (R1741C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294787	NM_001988.4(EVPL):c.5119A>G (p.Ile1707Val)	EVPL (I1707V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519917	NM_001988.4(EVPL):c.5078C>T (p.Thr1693Met)	EVPL (T1715M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276695	NM_001988.4(EVPL):c.5030C>T (p.Thr1677Met)	EVPL (T1699M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276683	NM_001988.4(EVPL):c.5005G>A (p.Glu1669Lys)	EVPL (E1669K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486229	NM_001988.4(EVPL):c.5003G>A (p.Arg1668Gln)	EVPL (R1690Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223338	NM_001988.4(EVPL):c.4978C>T (p.Arg1660Trp)	EVPL (R1660W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090896	NM_001988.4(EVPL):c.4960G>A (p.Glu1654Lys)	EVPL (E1654K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276694	NM_001988.4(EVPL):c.4916C>G (p.Ser1639Trp)	EVPL (S1661W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463892	NM_001988.4(EVPL):c.4871C>T (p.Thr1624Met)	EVPL (T1624M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538660	NM_001988.4(EVPL):c.4847A>C (p.Glu1616Ala)	EVPL (E1616A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216494	NM_001988.4(EVPL):c.4801G>A (p.Ala1601Thr)	EVPL (A1623T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524175	NM_001988.4(EVPL):c.4799G>C (p.Arg1600Pro)	EVPL (R1600P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243327	NM_001988.4(EVPL):c.4754G>A (p.Arg1585Gln)	EVPL (R1585Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512822	NM_001988.4(EVPL):c.4704G>C (p.Glu1568Asp)	EVPL (E1590D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218480	NM_001988.4(EVPL):c.4691T>C (p.Ile1564Thr)	EVPL (I1564T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276688	NM_001988.4(EVPL):c.4687C>A (p.Arg1563Ser)	EVPL (R1563S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090895	NM_001988.4(EVPL):c.4658G>A (p.Arg1553Gln)	EVPL (R1553Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360081	NM_001988.4(EVPL):c.4643C>T (p.Thr1548Met)	EVPL (T1548M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591058	NM_001988.4(EVPL):c.4574G>A (p.Arg1525Gln)	EVPL (R1525Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333375	NM_001988.4(EVPL):c.4534G>A (p.Ala1512Thr)	EVPL (A1512T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090894	NM_001988.4(EVPL):c.4522G>A (p.Val1508Ile)	EVPL (V1530I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311550	NM_001988.4(EVPL):c.4469C>T (p.Thr1490Ile)	EVPL (T1490I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484638	NM_001988.4(EVPL):c.4466A>T (p.Lys1489Met)	EVPL (K1489M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606232	NM_001988.4(EVPL):c.4451A>T (p.Asp1484Val)	EVPL (D1506V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370962	NM_001988.4(EVPL):c.4445G>A (p.Arg1482Gln)	EVPL (R1504Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485922	NM_001988.4(EVPL):c.4177G>A (p.Gly1393Arg)	EVPL (G1393R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276690	NM_001988.4(EVPL):c.4159G>C (p.Glu1387Gln)	EVPL (E1387Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090891	NM_001988.4(EVPL):c.4154G>A (p.Arg1385His)	EVPL (R1407H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 208945	NM_001988.4(EVPL):c.4126G>T (p.Val1376Leu)	EVPL (V1376L +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 2392994	NM_001988.4(EVPL):c.4033C>T (p.Arg1345Trp)	EVPL (R1367W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321322	NM_001988.4(EVPL):c.3971C>T (p.Pro1324Leu)	EVPL (P1324L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400410	NM_001988.4(EVPL):c.3914G>A (p.Arg1305Gln)	EVPL (R1305Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276700	NM_001988.4(EVPL):c.3893G>A (p.Arg1298His)	EVPL (R1320H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090890	NM_001988.4(EVPL):c.3856C>T (p.Arg1286Cys)	EVPL (R1308C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471604	NM_001988.4(EVPL):c.3740C>T (p.Thr1247Met)	EVPL (T1247M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510469	NM_001988.4(EVPL):c.3724C>T (p.Arg1242Trp)	EVPL (R1264W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090889	NM_001988.4(EVPL):c.3683A>G (p.Glu1228Gly)	EVPL (E1250G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090888	NM_001988.4(EVPL):c.3677G>T (p.Gly1226Val)	EVPL (G1226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090887	NM_001988.4(EVPL):c.3634C>G (p.Arg1212Gly)	EVPL (R1234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387843	NM_001988.4(EVPL):c.3625G>A (p.Glu1209Lys)	EVPL (E1209K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494350	NM_001988.4(EVPL):c.3611C>T (p.Pro1204Leu)	EVPL (P1204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090886	NM_001988.4(EVPL):c.3584G>A (p.Arg1195His)	EVPL (R1195H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281945	NM_001988.4(EVPL):c.3584G>C (p.Arg1195Pro)	EVPL (R1195P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090885	NM_001988.4(EVPL):c.3523G>A (p.Asp1175Asn)	EVPL (D1175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495316	NM_001988.4(EVPL):c.3523G>C (p.Asp1175His)	EVPL (D1197H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648288	NM_001988.4(EVPL):c.3484G>A (p.Glu1162Lys)	EVPL (E1162K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2463831	NM_001988.4(EVPL):c.3433G>A (p.Asp1145Asn)	EVPL (D1145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402555	NM_001988.4(EVPL):c.3415G>A (p.Val1139Met)	EVPL (V1139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602508	NM_001988.4(EVPL):c.3392A>G (p.Glu1131Gly)	EVPL (E1153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476825	NM_001988.4(EVPL):c.3376G>C (p.Ala1126Pro)	EVPL (A1126P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276685	NM_001988.4(EVPL):c.3374G>A (p.Arg1125Gln)	EVPL (R1125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393867	NM_001988.4(EVPL):c.3373C>T (p.Arg1125Trp)	EVPL (R1125W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244651	NM_001988.4(EVPL):c.3368T>C (p.Leu1123Pro)	EVPL (L1123P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388892	NM_001988.4(EVPL):c.3356G>A (p.Arg1119His)	EVPL (R1119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594078	NM_001988.4(EVPL):c.3305A>G (p.Asp1102Gly)	EVPL (D1102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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