Full data view for gene NR4A2

Information The variants shown are described using the NM_006186.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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     

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Owner     
+?/. _1_8_ c.(?_-1299376)_(*2392044_?)del r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_154790212)_(158488241_?)del g.(?_153933700)_(157631729_?)del - arr[GRCh37]2q23.3q24.1(154790212_158488241)x1 NR4A2_000023 3.6Mb deletion incl. KCNJ3, GPD2, GALNT5, ERMN, CYTIP, ACVR1C, ACVR1, UPP2, CCDC148, PKP4 PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.-2109A>G r.(?) p.(=) Unknown - likely benign g.157190974T>C - NR4A2(NM_006186.4):c.-2109A>G - NR4A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>T r.(?) p.(Pro75Ser) Unknown - VUS g.157186476G>A - NR4A2(NM_006186.3):c.223C>T (p.(Pro75Ser)) - NR4A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289A>G r.(?) p.(Met97Val) Unknown - likely benign g.157186410T>C - NR4A2(NM_006186.3):c.289A>G (p.(Met97Val)) - NR4A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.325dup r.(?) p.(Gln109ProfsTer3) Unknown - likely pathogenic (dominant) g.157186380dup g.156329868dup 325dupC - NR4A2_000032 - PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.326dup r.(?) p.(Ser110ValfsTer2) Unknown ACMG pathogenic (dominant) g.157186373dup g.156329861dup 326dupA - NR4A2_000024 ACMG PVS1, PS2, PM2 PubMed: Wirth 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES DYT Pat1 PubMed: Wirth 2020 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
+/. - c.326dup r.(?) p.(Ser110ValfsTer2) Unknown - pathogenic (dominant) g.157186373dup g.156329861dup 326dupA - NR4A2_000024 - PubMed: Ramos 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Ramos 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Brazil - - - - - 1 Johan den Dunnen
+?/. - c.390del r.(?) p.(Thr131Profs*32) Unknown - likely pathogenic g.157186311del - NR4A2(NM_006186.3):c.390delC (p.T131Pfs*32) - NR4A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.460C>T r.(?) p.(Gln154*) Unknown ACMG likely pathogenic g.157186239G>A g.156329727G>A - - NR4A2_000018 - - ClinVar-3912065 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES autism - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
+?/. - c.538C>T r.(?) p.(Gln180*) Unknown - likely pathogenic g.157186161G>A - - - NR4A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.571C>T r.(?) p.(Gln191*) Unknown - likely pathogenic g.157186128G>A - - - NR4A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.611C>T r.(?) p.(Pro204Leu) Unknown - VUS g.157186088G>A - NR4A2(NM_006186.4):c.611C>T (p.(Pro204Leu)) - NR4A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752C>T r.(?) p.(Pro251Leu) Unknown - VUS g.157185947G>A g.156329435G>A NR4A2(NM_006186.3):c.752C>T (p.(Pro251Leu)), NR4A2(NM_006186.4):c.752C>T (p.P251L) - NR4A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752C>T r.(?) p.(Pro251Leu) Unknown - VUS g.157185947G>A - NR4A2(NM_006186.3):c.752C>T (p.(Pro251Leu)), NR4A2(NM_006186.4):c.752C>T (p.P251L) - NR4A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755C>A r.(?) p.(Pro252Gln) Unknown - likely benign g.157185944G>T - NR4A2(NM_006186.3):c.755C>A (p.(Pro252Gln)) - NR4A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776A>G r.(?) p.(Asn259Ser) Unknown - VUS g.157185923T>C g.156329411T>C NR4A2(NM_006186.3):c.776A>G (p.(Asn259Ser)), NR4A2(NM_006186.4):c.776A>G (p.N259S) - NR4A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776A>G r.(?) p.(Asn259Ser) Unknown - VUS g.157185923T>C - NR4A2(NM_006186.3):c.776A>G (p.(Asn259Ser)), NR4A2(NM_006186.4):c.776A>G (p.N259S) - NR4A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Val277Met) Unknown - VUS g.157185870C>T - NR4A2(NM_006186.4):c.829G>A (p.(Val277Met)) - NR4A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. Ex3 c.839G>A r.(?) p.(Cys280Tyr) Unknown ACMG likely pathogenic (dominant) g.157185860C>T g.156329348C>T - - NR4A2_000014 ACMG: PS2, PM1, PP3_MOD, PM2_SUP; PMID 32366965 - VCV001693495.1 - De novo - - - - - DNA SEQ-NG-I Blood - ID 36102 - - M no ? (unknown) - - - - - 1 Andreas Laner
+?/. - c.839G>A r.(?) p.(Cys280Tyr) Unknown - likely pathogenic (dominant) g.157185860C>T g.156329348C>T - - NR4A2_000014 - PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.847T>G r.(?) p.(Cys283Gly) Unknown - VUS g.157185852A>C - NR4A2(NM_006186.3):c.847T>G (p.C283G) - NR4A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.857T>C r.(?) p.(Phe286Ser) Unknown - likely pathogenic (dominant) g.157185842A>G g.156329330A>G - - NR4A2_000031 - PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 3i c.865-1_865delinsAAAAAGGAGT r.865_994del p.Arg289TrpfsTer7 Unknown - likely pathogenic (dominant) g.157185045_157185046delinsACTCCTTTTT g.156328533_156328534delinsACTCCTTTTT 865-1_865delGCinsAAAAAGGAGT - NR4A2_000030 - PubMed: Singh 2020 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD Pat2 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.881dup r.(?) p.(Asn294LysfsTer10) Unknown ACMG likely pathogenic (dominant) g.157185035dup g.156328523dup 881dupA - NR4A2_000025 ACMG PVS1, PM2 PubMed: Wirth 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ID Pat2 PubMed: Wirth 2020 2-generation family, 1 affected, unaffected parents (deceased) F - - - - - - - 1 Johan den Dunnen
?/. - c.891C>T r.(?) p.(=) Unknown - VUS g.157185019G>A - NR4A2(NM_006186.4):c.891C>T (p.(Tyr297=)) - NR4A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.914G>A r.(?) p.(Cys305Tyr) Unknown ACMG likely pathogenic (dominant) g.157184996C>T g.156328484C>T - - NR4A2_000029 ACMG PS2, PM1, PM2, PP3 PubMed: Singh 2020, PubMed: Zech 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES DYT Pat3;CB-DYS-154 PubMed: Singh 2020, PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.968G>T r.(?) p.(Cys323Phe) Unknown - likely pathogenic (dominant) g.157184942C>A g.156328430C>A - - NR4A2_000028 - PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.994+1G>A r.spl? p.? Unknown - likely pathogenic g.157184915C>T g.156328403C>T - - NR4A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1175A>G r.(?) p.(Asp392Gly) Unknown - likely pathogenic (dominant) g.157183416T>C g.156326904T>C - - NR4A2_000027 - PubMed: Singh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1270A>G r.(?) p.(Ile424Val) Unknown - VUS g.157183321T>C - NR4A2(NM_006186.4):c.1270A>G (p.(Ile424Val)) - NR4A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282G>A r.(?) p.(Ala428Thr) Unknown - likely benign g.157183309C>T - NR4A2(NM_006186.3):c.1282G>A (p.(Ala428Thr)) - NR4A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349G>A r.(?) p.(Arg450Gln) Unknown - VUS g.157183242C>T - NR4A2(NM_006186.4):c.1349G>A (p.(Arg450Gln)) - NR4A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1361+18del r.(=) p.(=) Unknown - benign g.157183214del - NR4A2(NM_006186.4):c.1361+18delG - NR4A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1495G>A r.(?) p.(Asp499Asn) Unknown - VUS g.157182707C>T - NR4A2(NM_006186.4):c.1495G>A (p.(Asp499Asn), p.D499N) - NR4A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1495G>A r.(?) p.(Asp499Asn) Unknown - likely benign g.157182707C>T - NR4A2(NM_006186.4):c.1495G>A (p.(Asp499Asn), p.D499N) - NR4A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1511C>T r.(?) p.(Ser504Phe) Unknown - VUS g.157182691G>A - NR4A2(NM_006186.4):c.1511C>T (p.S504F) - NR4A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1576G>T r.(?) p.(Glu526Ter) Unknown - likely pathogenic (dominant) g.157182477C>A g.156325965C>A - - NR4A2_000026 - PubMed: Singh 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Singh 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
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