EGR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
Select item 300263	NM_000399.5(EGR2):c.*1080G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 300264	NM_000399.5(EGR2):c.*1028A>G	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 300265	NM_000399.5(EGR2):c.*919G>C	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300266	NM_000399.5(EGR2):c.*874A>G	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GBenign
Select item 300267	NM_000399.5(EGR2):c.814_816del	EGR2	Deletion (3 prime UTR variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 300268	NM_000399.5(EGR2):c.*655G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300269	NM_000399.5(EGR2):c.*646C>T	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 878661	NM_000399.5(EGR2):c.*618T>C	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300270	NM_000399.5(EGR2):c.*456G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300271	NM_000399.5(EGR2):c.*429G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GBenign
Select item 300272	NM_000399.5(EGR2):c.*288G>A	EGR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 300273	NM_000399.5(EGR2):c.*287T>A	EGR2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 878662	NM_000399.5(EGR2):c.*230G>T	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 878663	NM_000399.5(EGR2):c.*150A>G	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 300274	NM_000399.5(EGR2):c.*145T>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 879262	NM_000399.5(EGR2):c.*79C>A	EGR2	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 420319	NM_000399.5(EGR2):c.17_19del	EGR2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 2988561	NM_000399.5(EGR2):c.1430G>C (p.Ter477Ser)	EGR2	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 695618	NM_000399.5(EGR2):c.1428T>A (p.Pro476=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1905680	NM_000399.5(EGR2):c.1425A>C (p.Thr475=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2721317	NM_000399.5(EGR2):c.1421G>A (p.Arg474Gln)	EGR2 (R487Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1036056	NM_000399.5(EGR2):c.1420C>T (p.Arg474Trp)	EGR2 (R424W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2485919	NM_000399.5(EGR2):c.1418C>T (p.Thr473Ile)	EGR2 (T486I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2741870	NM_000399.5(EGR2):c.1414C>A (p.Arg472=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 841200	NM_000399.5(EGR2):c.1414C>G (p.Arg472Gly)	EGR2 (R472G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2782450	NM_000399.5(EGR2):c.1408T>G (p.Ser470Ala)	EGR2 (S420A +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1004705	NM_000399.5(EGR2):c.1402C>T (p.Pro468Ser)	EGR2 (P418S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1396171	NM_000399.5(EGR2):c.1399G>A (p.Ala467Thr)	EGR2 (A417T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 531709	NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro)	EGR2 (A467P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715590	NM_000399.5(EGR2):c.1398C>T (p.Leu466=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 696704	NM_000399.5(EGR2):c.1395G>A (p.Pro465=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 242311	NM_000399.5(EGR2):c.1391G>T (p.Gly464Val)	EGR2 (G464V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1115099	NM_000399.5(EGR2):c.1386C>G (p.Gly462=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 531708	NM_000399.5(EGR2):c.1386C>T (p.Gly462=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 1719689	NM_000399.5(EGR2):c.1379G>A (p.Ser460Asn)	EGR2 (S410N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1010400	NM_000399.5(EGR2):c.1379del (p.Ser460fs)	EGR2 (S410fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2703136	NM_000399.5(EGR2):c.1366A>T (p.Ser456Cys)	EGR2 (S469C +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 300275	NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)	EGR2 (C454G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1D	GUncertain significance
Select item 2022889	NM_000399.5(EGR2):c.1357C>T (p.Leu453=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2704145	NM_000399.5(EGR2):c.1353T>G (p.Gly451=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 570320	NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp)	EGR2 (G451D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 219918	NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)	EGR2 (G451V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +3 more	GBenign/Likely benign
Select item 938042	NM_000399.5(EGR2):c.1339G>T (p.Val447Leu)	EGR2 (V397L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1966940	NM_000399.5(EGR2):c.1328G>A (p.Cys443Tyr)	EGR2 (C393Y +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2910642	NM_000399.5(EGR2):c.1326C>T (p.Ser442=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2871321	NM_000399.5(EGR2):c.1323C>T (p.Ala441=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1114632	NM_000399.5(EGR2):c.1320A>T (p.Thr440=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1057173	NM_000399.5(EGR2):c.1319C>T (p.Thr440Ile)	EGR2 (T390I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2128347	NM_000399.5(EGR2):c.1316C>T (p.Ser439Phe)	EGR2 (S439F +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 944102	NM_000399.5(EGR2):c.1314del (p.Ser439fs)	EGR2 (S389fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 452607	NM_000399.5(EGR2):c.1309G>A (p.Ala437Thr)	EGR2 (A437T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618079	NM_000399.5(EGR2):c.1303G>C (p.Val435Leu)	EGR2 (V435L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722585	NM_000399.5(EGR2):c.1302G>T (p.Ser434=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2582455	NM_000399.5(EGR2):c.1294T>A (p.Ser432Thr)	EGR2 (S382T +2 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GUncertain significance
Select item 2640504	NM_000399.5(EGR2):c.1290C>T (p.Ala430=)	EGR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348249	NM_000399.5(EGR2):c.1286G>A (p.Ser429Asn)	EGR2 (S429N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1462789	NM_000399.5(EGR2):c.1284C>A (p.Ser428Arg)	EGR2 (S378R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 531676	NM_000399.5(EGR2):c.1277G>A (p.Arg426Gln)	EGR2 (R426Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 645916	NM_000399.5(EGR2):c.1274_1275del (p.Glu425fs)	EGR2 (E375fs +1 more)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2087180	NM_000399.5(EGR2):c.1271_1274del (p.Lys424fs)	EGR2 (K424fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1042863	NM_000399.5(EGR2):c.1268A>G (p.Gln423Arg)	EGR2 (Q423R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 842642	NM_000399.5(EGR2):c.1260C>G (p.His420Gln)	EGR2 (H420Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 799016	NM_000399.5(EGR2):c.1248C>T (p.His416=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 447313	NM_000399.5(EGR2):c.1244G>A (p.Arg415His)	EGR2 (R415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1018846	NM_000399.5(EGR2):c.1243C>G (p.Arg415Gly)	EGR2 (R365G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 839043	NM_000399.5(EGR2):c.1243C>T (p.Arg415Cys)	EGR2 (R365C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 415906	NM_000399.5(EGR2):c.1242G>A (p.Lys414=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 2413053	NM_000399.5(EGR2):c.1240A>G (p.Lys414Glu)	EGR2 (K364E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 409979	NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly)	EGR2 (E412G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 16753	NM_000399.5(EGR2):c.1234G>A (p.Glu412Lys)	EGR2 (E412K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 1525978	NM_000399.5(EGR2):c.1232A>G (p.Asp411Gly)	EGR2 (D361G +1 more)	Single nucleotide variant (missense variant)	Dejerine-Sottas disease	GPathogenic
Select item 1176247	NM_000399.5(EGR2):c.1231G>T (p.Asp411Tyr)	EGR2 (D361Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 853089	NM_000399.5(EGR2):c.1231G>A (p.Asp411Asn)	EGR2 (D411N +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 219844	NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln)	EGR2 (R409Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +2 more	GPathogenic/Likely pathogenic
Select item 16750	NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)	EGR2 (R409W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1011752	NM_000399.5(EGR2):c.1222G>T (p.Ala408Ser)	EGR2 (A358S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2796608	NM_000399.5(EGR2):c.1214G>A (p.Arg405Gln)	EGR2 (R405Q +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 964728	NM_000399.5(EGR2):c.1214G>T (p.Arg405Leu)	EGR2 (R405L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1062751	NM_000399.5(EGR2):c.1208G>A (p.Cys403Tyr)	EGR2 (C353Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 531699	NM_000399.5(EGR2):c.1207T>G (p.Cys403Gly)	EGR2 (C403G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 462783	NM_000399.5(EGR2):c.1206C>T (p.Tyr402=)	EGR2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1748571	NM_000399.5(EGR2):c.1205A>G (p.Tyr402Cys)	EGR2 (Y352C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098604	NM_000399.5(EGR2):c.1203C>G (p.Asp401Glu)	EGR2 (D351E +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694852	NM_000399.5(EGR2):c.1200_1201del (p.Cys400_Asp401delinsTer)	EGR2	Microsatellite (nonsense)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 569402	NM_000399.5(EGR2):c.1199G>C (p.Cys400Ser)	EGR2 (C400S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 952193	NM_000399.5(EGR2):c.1198T>A (p.Cys400Ser)	EGR2 (C400S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1745912	NM_000399.5(EGR2):c.1195G>T (p.Ala399Ser)	EGR2 (A349S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1807345	NM_000399.5(EGR2):c.1192T>C (p.Phe398Leu)	EGR2 (F348L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097574	NM_000399.5(EGR2):c.1191C>T (p.Pro397=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2431049	NM_000399.5(EGR2):c.1190C>A (p.Pro397His)	EGR2 (P347H +2 more)	Single nucleotide variant (missense variant)	ERG2-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 916980	NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)	EGR2 (E345Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 812054	NM_000399.5(EGR2):c.1179C>T (p.Thr393=)	EGR2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +1 more	GLikely benign
Select item 2852587	NM_000399.5(EGR2):c.1178C>G (p.Thr393Ser)	EGR2 (T406S +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance

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