Full data view for gene EGR2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000399.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3060T>A r.(?) p.(=) Unknown - likely benign g.64578849A>T g.62819089A>T EGR2(NM_001136178.1):c.-148+17T>A - EGR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G r.(?) p.(Gln50Arg) Unknown - likely benign g.64575641T>C g.62815881T>C EGR2(NM_000399.3):c.149A>G (p.(Gln50Arg)) - EGR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.627= r.(=) p.(Pro209=) Unknown - benign g.64573771C>T g.62814011C>T EGR2(NM_000399.3):c.627G>A (p.P209=) - EGR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.627= r.(=) p.(Pro209=) Unknown - benign g.64573771C>T g.62814011C>T EGR2(NM_000399.3):c.627G>A (p.P209=) - EGR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.627G>A r.(=) p.(=) Parent #1 - benign g.64573771C>T g.62814011C>T - - EGR2_000002 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs224083 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.665T>C r.(?) p.(Met222Thr) Unknown - VUS g.64573733A>G g.62813973A>G EGR2(NM_000399.3):c.665T>C (p.M222T) - EGR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.803T>A r.(?) p.(Ile268Asn) Unknown - pathogenic g.64573595A>T g.62813835A>T EGR2(NM_000399.3):c.803T>A (p.I268N) - EGR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.832G>A r.(?) p.(Ala278Thr) Unknown - VUS g.64573566C>T g.62813806C>T EGR2(NM_000399.3):c.832G>A (p.A278T) - EGR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1064A>T r.(?) p.(Asp355Val) Unknown - pathogenic g.64573334T>A g.62813574T>A EGR2(NM_000399.3):c.1064A>T (p.D355V) - EGR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1065C>G r.(?) p.(Asp355Glu) Unknown - VUS g.64573333G>C g.62813573G>C - - EGR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1075C>T r.(?) p.(Arg359Trp) Unknown - pathogenic g.64573323G>A g.62813563G>A EGR2(NM_000399.3):c.1075C>T (p.R359W) - EGR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1075C>T r.(?) p.(Arg359Trp) Parent #1 - pathogenic g.64573323G>A g.62813563G>A - - EGR2_000011 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat4 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.1076G>A r.(?) p.(Arg359Gln) Unknown - pathogenic g.64573322C>T g.62813562C>T EGR2(NM_000399.3):c.1076G>A (p.R359Q) - EGR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1086A>C r.(?) p.(Arg362=) Unknown - benign g.64573312T>G g.62813552T>G EGR2(NM_000399.3):c.1086A>C (p.R362=) - EGR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1141C>T r.(?) p.(Arg381Cys) Unknown - pathogenic g.64573257G>A g.62813497G>A EGR2(NM_000399.3):c.1141C>T (p.R381C) - EGR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1142G>A r.(?) p.(Arg381His) Unknown - pathogenic g.64573256C>T g.62813496C>T EGR2(NM_000399.3):c.1142G>A (p.R381H) - EGR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1142G>A r.(?) p.(Arg381His) Parent #1 - pathogenic g.64573256C>T g.62813496C>T - - EGR2_000007 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat5 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
+/. - c.1146T>G r.(?) p.(Ser382Arg) Unknown - pathogenic g.64573252A>C g.62813492A>C EGR2(NM_000399.3):c.1146T>G (p.S382R) - EGR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1147G>T r.(?) p.(Asp383Tyr) Unknown - pathogenic g.64573251C>A g.62813491C>A EGR2(NM_000399.3):c.1147G>T (p.D383Y) - EGR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1152C>A r.(?) p.(His384Gln) Unknown - VUS g.64573246G>T - - - EGR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1225C>T r.(?) p.(Arg409Trp) Unknown - pathogenic g.64573173G>A g.62813413G>A EGR2(NM_000399.3):c.1225C>T (p.R409W) - EGR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1226G>A r.(?) p.(Arg409Gln) Paternal (inferred) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - DNA SEQ - - CMT CMT-248PatII:2 PubMed: Sevilla 2015 4-generation family, 6 affected (3F, 3M) F yes Spain - 82y 0 - - 6 Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) Paternal (inferred) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - DNA SEQ - - CMT CMT-248PatII:7 PubMed: Sevilla 2015 - F yes Spain - >72y 0 - - 1 Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) Maternal (confirmed) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - DNA SEQ - - CMT CMT-248PatIII:1 PubMed: Sevilla 2015 - M no Spain - >56y 0 - - 1 Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) Maternal (confirmed) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - DNA SEQ - - CMT CMT-248PatIII:13 PubMed: Sevilla 2015 - M no Spain - >41y 0 - - 1 Sarah El-Bestawi
+/. - c.1234G>A r.(?) p.(Glu412Lys) Unknown - pathogenic g.64573164C>T g.62813404C>T EGR2(NM_000399.3):c.1234G>A (p.E412K) - EGR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.1234G>A r.(?) p.(Glu412Lys) Unknown ACMG likely pathogenic (dominant) g.64573164C>T - - - EGR2_000004 ACMG class 4: PS3_moderat, PM1, PM2, PP3 - - - Germline ? - - - - DNA SEQ-NG-I Germline - CMT1D 170351 - - M ? Germany - - 0 - - 1 Andreas Laner
?/. - c.1235A>G r.(=) p.(Glu412Gly) Parent #1 - VUS g.64573163T>C g.62813403T>C - - EGR2_000001 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1271_1274del r.(?) p.(Lys424Serfs*110) Unknown - likely pathogenic g.64573127_64573130del g.62813367_62813370del - - EGR2_000021 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1352G>T r.(?) p.(Gly451Val) Unknown - pathogenic g.64573046C>A g.62813286C>A EGR2(NM_000399.3):c.1352G>T (p.G451V) - EGR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1352G>T r.(?) p.(Gly451Val) Parent #1 - pathogenic g.64573046C>A g.62813286C>A 1252G>T (Gly451Val) - EGR2_000003 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat72 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.1387G>A r.(?) p.(Gly463Arg) Unknown - VUS g.64573011C>T - EGR2(NM_000399.3):c.1387G>A (p.G463R) - ADO_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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