EPG5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687932	NM_001410858.1(EPG5):c.7577T>C (p.Phe2526Ser)	EPG5 (F2526S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1190961	NM_020964.3(EPG5):c.*270G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1223957	NM_020964.3(EPG5):c.*163GT[14]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1221331	NM_020964.3(EPG5):c.*163GT[15]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1181353	NM_020964.3(EPG5):c.*163GT[13]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1212265	NM_020964.3(EPG5):c.*163GT[11]	EPG5	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1708713	NM_020964.3(EPG5):c.*166T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1325952	NM_020964.3(EPG5):c.*164T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1253000	NM_020964.3(EPG5):c.*140G>A	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261570	NM_020964.3(EPG5):c.*74T>G	EPG5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1189712	NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln)	EPG5 (R2579Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2101552	NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)	EPG5 (R2578* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1033560	NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly)	EPG5 (R2579G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1473636	NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn)	EPG5 (D2576N)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2788097	NM_020964.3(EPG5):c.7725G>A (p.Leu2575=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2896389	NM_020964.3(EPG5):c.7716G>T (p.Val2572=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2982208	NM_020964.3(EPG5):c.7707T>C (p.Tyr2569=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3008727	NM_020964.3(EPG5):c.7704G>C (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2908297	NM_020964.3(EPG5):c.7704G>A (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 3008728	NM_020964.3(EPG5):c.7702C>T (p.Leu2568=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 639002	NM_020964.3(EPG5):c.7693G>A (p.Val2565Ile)	EPG5 (V2565I)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 798069	NM_020964.3(EPG5):c.7692C>T (p.Leu2564=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1405510	NM_020964.3(EPG5):c.7690C>T (p.Leu2564Phe)	EPG5 (L2564F)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3017734	NM_020964.3(EPG5):c.7689T>G (p.Leu2563=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 2825880	NM_020964.3(EPG5):c.7686T>C (p.Ala2562=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 1494085	NM_020964.3(EPG5):c.7685C>G (p.Ala2562Gly)	EPG5 (A2562G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1016333	NM_020964.3(EPG5):c.7684G>T (p.Ala2562Ser)	EPG5 (A2562S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2840784	NM_020964.3(EPG5):c.7680C>T (p.Phe2560=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 534618	NM_020964.3(EPG5):c.7674A>G (p.Lys2558=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1993737	NM_020964.3(EPG5):c.7672A>T (p.Lys2558Ter)	EPG5 (K2557* +1 more)	Single nucleotide variant (nonsense)	Vici syndrome	GUncertain significance
Select item 1153732	NM_020964.3(EPG5):c.7668T>C (p.Asp2556=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1466120	NM_020964.3(EPG5):c.7666G>A (p.Asp2556Asn)	EPG5 (D2556N)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1362288	NM_020964.3(EPG5):c.7660C>A (p.Leu2554Ile)	EPG5 (L2554I)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1006910	NM_020964.3(EPG5):c.7627G>A (p.Ala2543Thr)	EPG5 (A2543T)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2917802	NM_020964.3(EPG5):c.7626A>G (p.Gln2542=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 730422	NM_020964.3(EPG5):c.7621T>C (p.Leu2541=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 2907490	NM_020964.3(EPG5):c.7617A>G (p.Gln2539=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 939008	NM_020964.3(EPG5):c.7612G>T (p.Asp2538Tyr)	EPG5 (D2538Y)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1087117	NM_020964.3(EPG5):c.7608C>T (p.Tyr2536=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1918223	NM_020964.3(EPG5):c.7603G>A (p.Glu2535Lys)	EPG5 (E2534K +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3089501	NM_020964.3(EPG5):c.7583C>T (p.Ala2528Val)	EPG5 (A2527V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547540	NM_020964.3(EPG5):c.7583C>G (p.Ala2528Gly)	EPG5 (A2527G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400016	NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala)	EPG5 (S2526A)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GUncertain significance
Select item 2178700	NM_020964.3(EPG5):c.7569T>C (p.Ala2523=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 1021074	NM_020964.3(EPG5):c.7568C>G (p.Ala2523Gly)	EPG5 (A2523G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1008048	NM_020964.3(EPG5):c.7565A>G (p.Asn2522Ser)	EPG5 (N2522S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 3002929	NM_020964.3(EPG5):c.7560T>A (p.Ala2520=)	EPG5	Single nucleotide variant (synonymous variant +1 more)	Vici syndrome	GLikely benign
Select item 1943689	NM_020964.3(EPG5):c.7558-5T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance
Select item 747816	NM_020964.3(EPG5):c.7558-8T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 402831	NM_020964.3(EPG5):c.7558-11G>A	EPG5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2726813	NM_020964.3(EPG5):c.7558-12C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1453561	NM_020964.3(EPG5):c.7558-15T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2740901	NM_020964.3(EPG5):c.7558-18A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2112225	NM_020964.3(EPG5):c.7558-18A>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance
Select item 1691577	NM_020964.3(EPG5):c.7558-132C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225996	NM_020964.3(EPG5):c.7558-205C>T	EPG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2775548	NM_020964.3(EPG5):c.7557+20G>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2729908	NM_020964.3(EPG5):c.7557+19G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2862478	NM_020964.3(EPG5):c.7557+16G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 445923	NM_020964.3(EPG5):c.7557+15T>C	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2822462	NM_020964.3(EPG5):c.7557+14A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1621672	NM_020964.3(EPG5):c.7557+7A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2168770	NM_020964.3(EPG5):c.7557+5G>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance
Select item 1481192	NM_020964.3(EPG5):c.7545del (p.Ala2517fs)	EPG5 (A2517fs)	Deletion (frameshift variant)	Vici syndrome	GUncertain significance
Select item 2911629	NM_020964.3(EPG5):c.7542C>T (p.Thr2514=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 1462129	NM_020964.3(EPG5):c.7538T>C (p.Leu2513Pro)	EPG5 (L2513P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 647560	NM_020964.3(EPG5):c.7526C>T (p.Ser2509Phe)	EPG5 (S2509F)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 958910	NM_020964.3(EPG5):c.7523G>T (p.Gly2508Val)	EPG5 (G2508V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1353359	NM_020964.3(EPG5):c.7520C>G (p.Pro2507Arg)	EPG5 (P2507R)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 961981	NM_020964.3(EPG5):c.7511G>A (p.Arg2504His)	EPG5 (R2504H)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2065808	NM_020964.3(EPG5):c.7510C>T (p.Arg2504Cys)	EPG5 (R2503C +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1427934	NM_020964.3(EPG5):c.7507A>G (p.Ile2503Val)	EPG5 (I2503V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 534604	NM_020964.3(EPG5):c.7495A>G (p.Met2499Val)	EPG5 (M2499V)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1965282	NM_020964.3(EPG5):c.7492C>T (p.Pro2498Ser)	EPG5 (P2497S +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 967036	NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu)	EPG5 (Q2496E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 850666	NM_020964.3(EPG5):c.7474T>A (p.Phe2492Ile)	EPG5 (F2492I)	Single nucleotide variant (missense variant)	EPG5-related disorder +1 more	GUncertain significance
Select item 2885959	NM_020964.3(EPG5):c.7469C>T (p.Ala2490Val)	EPG5 (A2490V +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 534599	NM_020964.3(EPG5):c.7460G>A (p.Arg2487Gln)	EPG5 (R2487Q)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1075179	NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter)	EPG5 (R2487*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 719267	NM_020964.3(EPG5):c.7458C>T (p.Ala2486=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 848605	NM_020964.3(EPG5):c.7454T>A (p.Val2485Asp)	EPG5 (V2485D)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1063356	NM_020964.3(EPG5):c.7448G>A (p.Arg2483Gln)	EPG5 (R2483Q)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 217320	NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)	EPG5 (R2483*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 750691	NM_020964.3(EPG5):c.7446C>T (p.Phe2482=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GLikely benign
Select item 3017761	NM_020964.3(EPG5):c.7443-8T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1565386	NM_020964.3(EPG5):c.7443-9A>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2856564	NM_020964.3(EPG5):c.7443-11T>C	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1170633	NM_020964.3(EPG5):c.7443-14C>T	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1917267	NM_020964.3(EPG5):c.7443-17T>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1293084	NM_020964.3(EPG5):c.7443-86T>G	EPG5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1342487	NM_020964.3(EPG5):c.7443-621A>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance
Select item 1214750	NM_020964.3(EPG5):c.7442+192T>C	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215428	NM_020964.3(EPG5):c.7442+93G>A	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1151409	NM_020964.3(EPG5):c.7442+17C>G	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2810002	NM_020964.3(EPG5):c.7442+11G>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 1555082	NM_020964.3(EPG5):c.7442+11G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2902632	NM_020964.3(EPG5):c.7442+10C>T	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 2771136	NM_020964.3(EPG5):c.7442+9G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GLikely benign
Select item 799025	NM_020964.3(EPG5):c.7442+7A>C	EPG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1380314	NM_020964.3(EPG5):c.7442+5G>A	EPG5	Single nucleotide variant (intron variant)	Vici syndrome	GUncertain significance

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