EGLN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1260928	NM_080732.4(EGLN2):c.-235+85dup	EGLN2, RAB4B-EGLN2	Duplication (intron variant)	not provided	GBenign
Select item 1253009	NM_080732.4(EGLN2):c.-235+84G>A	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283406	NM_080732.4(EGLN2):c.-235+140G>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228041	NM_080732.4(EGLN2):c.-234-504A>G	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228205	NM_080732.4(EGLN2):c.-234-447_-234-444del	EGLN2, RAB4B-EGLN2	Deletion (intron variant)	not provided	GBenign
Select item 1252635	NM_080732.4(EGLN2):c.-234-415_-234-414del	EGLN2, RAB4B-EGLN2	Microsatellite (intron variant)	not provided	GBenign
Select item 1291782	NM_080732.4(EGLN2):c.-234-175C>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297762	NM_080732.4(EGLN2):c.-234-12del	EGLN2, RAB4B-EGLN2	Deletion (intron variant)	not provided	GBenign
Select item 1182618	NM_080732.4(EGLN2):c.-234-10C>T	EGLN2, RAB4B-EGLN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283246	NM_080732.4(EGLN2):c.-116G>A	RAB4B-EGLN2, EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1750977	NM_080732.4(EGLN2):c.5A>G (p.Asp2Gly)	EGLN2, RAB4B-EGLN2 (D2G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1756599	NM_080732.4(EGLN2):c.6C>T (p.Asp2=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3274831	NM_080732.4(EGLN2):c.7A>G (p.Ser3Gly)	EGLN2, RAB4B-EGLN2 (S3G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1768922	NM_080732.4(EGLN2):c.9C>T (p.Ser3=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2449355	NM_080732.4(EGLN2):c.10C>A (p.Pro4Thr)	EGLN2, RAB4B-EGLN2 (P4T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3257799	NM_080732.4(EGLN2):c.11C>T (p.Pro4Leu)	EGLN2, RAB4B-EGLN2 (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	Neoplasm	OUncertain significance
Select item 1747053	NM_080732.4(EGLN2):c.11C>G (p.Pro4Arg)	EGLN2, RAB4B-EGLN2 (P4R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3228984	NM_080732.4(EGLN2):c.12G>T (p.Pro4=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1769372	NM_080732.4(EGLN2):c.12G>C (p.Pro4=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1769368	NM_080732.4(EGLN2):c.12G>A (p.Pro4=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1776133	NM_080732.4(EGLN2):c.15C>G (p.Cys5Trp)	EGLN2, RAB4B-EGLN2 (C5W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1784153	NM_080732.4(EGLN2):c.19C>G (p.Pro7Ala)	EGLN2, RAB4B-EGLN2 (P7A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560617	NM_080732.4(EGLN2):c.20C>T (p.Pro7Leu)	EGLN2, RAB4B-EGLN2 (P7L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2626067	NM_080732.4(EGLN2):c.21G>C (p.Pro7=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1787616	NM_080732.4(EGLN2):c.21G>T (p.Pro7=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1787599	NM_080732.4(EGLN2):c.21G>A (p.Pro7=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1792233	NM_080732.4(EGLN2):c.24G>C (p.Gln8His)	EGLN2, RAB4B-EGLN2 (Q8H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2585716	NM_080732.4(EGLN2):c.25C>T (p.Pro9Ser)	EGLN2, RAB4B-EGLN2 (P9S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561823	NM_080732.4(EGLN2):c.26C>T (p.Pro9Leu)	EGLN2, RAB4B-EGLN2 (P9L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1796163	NM_080732.4(EGLN2):c.27C>A (p.Pro9=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1797418	NM_080732.4(EGLN2):c.28C>T (p.Leu10=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1727598	NM_080732.4(EGLN2):c.30A>G (p.Leu10=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228998	NM_080732.4(EGLN2):c.35A>C (p.Gln12Pro)	EGLN2, RAB4B-EGLN2 (Q12P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3229000	NM_080732.4(EGLN2):c.39T>C (p.Ala13=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3229001	NM_080732.4(EGLN2):c.40C>G (p.Leu14Val)	EGLN2, RAB4B-EGLN2 (L14V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1739519	NM_080732.4(EGLN2):c.42C>A (p.Leu14=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1740306	NM_080732.4(EGLN2):c.43C>T (p.Pro15Ser)	EGLN2, RAB4B-EGLN2 (P15S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561828	NM_080732.4(EGLN2):c.44C>T (p.Pro15Leu)	EGLN2, RAB4B-EGLN2 (P15L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1741815	NM_080732.4(EGLN2):c.45T>G (p.Pro15=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1742530	NM_080732.4(EGLN2):c.46C>A (p.Gln16Lys)	EGLN2, RAB4B-EGLN2 (Q16K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3229005	NM_080732.4(EGLN2):c.49T>C (p.Leu17=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3229006	NM_080732.4(EGLN2):c.50T>C (p.Leu17Ser)	EGLN2, RAB4B-EGLN2 (L17S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1746691	NM_080732.4(EGLN2):c.52C>T (p.Pro18Ser)	EGLN2, RAB4B-EGLN2 (P18S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1747934	NM_080732.4(EGLN2):c.54A>T (p.Pro18=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1747932	NM_080732.4(EGLN2):c.54A>G (p.Pro18=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3229009	NM_080732.4(EGLN2):c.55G>C (p.Gly19Arg)	EGLN2, RAB4B-EGLN2 (G19R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2564166	NM_080732.4(EGLN2):c.57G>A (p.Gly19=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1750960	NM_080732.4(EGLN2):c.59C>T (p.Ser20Phe)	EGLN2, RAB4B-EGLN2 (S20F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1750956	NM_080732.4(EGLN2):c.59C>G (p.Ser20Cys)	EGLN2, RAB4B-EGLN2 (S20C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1751626	NM_080732.4(EGLN2):c.60T>G (p.Ser20=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1753328	NM_080732.4(EGLN2):c.63G>T (p.Ser21=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1753316	NM_080732.4(EGLN2):c.63G>A (p.Ser21=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2560616	NM_080732.4(EGLN2):c.66A>G (p.Ser22=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2451247	NM_080732.4(EGLN2):c.69G>A (p.Glu23=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1756574	NM_080732.4(EGLN2):c.69G>C (p.Glu23Asp)	EGLN2, RAB4B-EGLN2 (E23D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1758738	NM_080732.4(EGLN2):c.73T>C (p.Leu25=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1760213	NM_080732.4(EGLN2):c.76G>A (p.Glu26Lys)	RAB4B-EGLN2, EGLN2 (E26K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 730653	NM_080732.4(EGLN2):c.78G>C (p.Glu26Asp)	EGLN2, RAB4B-EGLN2 (E26D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3274828	NM_080732.4(EGLN2):c.80C>G (p.Pro27Arg)	EGLN2, RAB4B-EGLN2 (P27R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513206	NM_080732.4(EGLN2):c.80C>T (p.Pro27Leu)	EGLN2, RAB4B-EGLN2 (P27L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1762438	NM_080732.4(EGLN2):c.81T>G (p.Pro27=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2497287	NM_080732.4(EGLN2):c.84G>A (p.Glu28=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1763648	NM_080732.4(EGLN2):c.84G>T (p.Glu28Asp)	EGLN2, RAB4B-EGLN2 (E28D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1764730	NM_080732.4(EGLN2):c.87T>A (p.Pro29=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2449358	NM_080732.4(EGLN2):c.89G>A (p.Gly30Asp)	EGLN2, RAB4B-EGLN2 (G30D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2564155	NM_080732.4(EGLN2):c.90C>A (p.Gly30=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1765795	NM_080732.4(EGLN2):c.90C>T (p.Gly30=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1766164	NM_080732.4(EGLN2):c.91C>T (p.Arg31Trp)	RAB4B-EGLN2, EGLN2 (R31W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1766160	NM_080732.4(EGLN2):c.91C>G (p.Arg31Gly)	EGLN2, RAB4B-EGLN2 (R31G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1766494	NM_080732.4(EGLN2):c.92G>A (p.Arg31Gln)	EGLN2, RAB4B-EGLN2 (R31Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1766843	NM_080732.4(EGLN2):c.93G>C (p.Arg31=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1766834	NM_080732.4(EGLN2):c.93G>A (p.Arg31=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1768896	NM_080732.4(EGLN2):c.99G>T (p.Arg33Ser)	EGLN2, RAB4B-EGLN2 (R33S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3228976	NM_080732.4(EGLN2):c.102G>A (p.Met34Ile)	EGLN2, RAB4B-EGLN2 (M34I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2564154	NM_080732.4(EGLN2):c.105A>C (p.Gly35=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1786130	NM_080732.4(EGLN2):c.107T>C (p.Val36Ala)	EGLN2, RAB4B-EGLN2 (V36A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1741753	NM_080732.4(EGLN2):c.117C>T (p.Tyr39=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1744532	NM_080732.4(EGLN2):c.118C>T (p.Leu40=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1750017	NM_080732.4(EGLN2):c.120G>C (p.Leu40=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1749934	NM_080732.4(EGLN2):c.120G>A (p.Leu40=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1757810	NM_080732.4(EGLN2):c.123C>G (p.Pro41=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1762759	NM_080732.4(EGLN2):c.125G>A (p.Cys42Tyr)	EGLN2, RAB4B-EGLN2 (C42Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1765194	NM_080732.4(EGLN2):c.126T>C (p.Cys42=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228983	NM_080732.4(EGLN2):c.127C>T (p.Pro43Ser)	EGLN2, RAB4B-EGLN2 (P43S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1769055	NM_080732.4(EGLN2):c.128C>A (p.Pro43His)	EGLN2, RAB4B-EGLN2 (P43H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1769315	NM_080732.4(EGLN2):c.129C>T (p.Pro43=)	RAB4B-EGLN2, EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1769310	NM_080732.4(EGLN2):c.129C>G (p.Pro43=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1769303	NM_080732.4(EGLN2):c.129C>A (p.Pro43=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3274838	NM_080732.4(EGLN2):c.130C>G (p.Leu44Val)	EGLN2, RAB4B-EGLN2 (L44V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1769620	NM_080732.4(EGLN2):c.130C>T (p.Leu44=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1770118	NM_080732.4(EGLN2):c.132G>T (p.Leu44=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1770115	NM_080732.4(EGLN2):c.132G>C (p.Leu44=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1771252	NM_080732.4(EGLN2):c.137C>T (p.Pro46Leu)	EGLN2, RAB4B-EGLN2 (P46L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1771503	NM_080732.4(EGLN2):c.138C>T (p.Pro46=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3228985	NM_080732.4(EGLN2):c.139T>G (p.Ser47Ala)	EGLN2, RAB4B-EGLN2 (S47A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3274809	NM_080732.4(EGLN2):c.144C>T (p.Tyr48=)	EGLN2, RAB4B-EGLN2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 1773121	NM_080732.4(EGLN2):c.145C>T (p.His49Tyr)	EGLN2, RAB4B-EGLN2 (H49Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1773317	NM_080732.4(EGLN2):c.146A>C (p.His49Pro)	EGLN2, RAB4B-EGLN2 (H49P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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