NM_006186.4(NR4A2):c.-291del |
deletion |
Parkinson disease, late-onset [RCV000008118] |
Chr2:156332644 [GRCh38] Chr2:157189156 [GRCh37] Chr2:2q24.1 |
likely pathogenic|uncertain significance |
NM_006186.4(NR4A2):c.-245T>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000008119] |
Chr2:156332598 [GRCh38] Chr2:157189110 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.15G>C (p.Gln5His) |
single nucleotide variant |
not provided [RCV003321158] |
Chr2:156330172 [GRCh38] Chr2:157186684 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 |
copy number gain |
See cases [RCV000052950] |
Chr2:154366788..167048902 [GRCh38] Chr2:155223300..167905412 [GRCh37] Chr2:154931546..167613658 [NCBI36] Chr2:2q24.1-24.3 |
pathogenic |
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 |
copy number loss |
See cases [RCV000054090] |
Chr2:147251948..157856378 [GRCh38] Chr2:148009516..158712890 [GRCh37] Chr2:147725986..158421136 [NCBI36] Chr2:2q22.3-24.1 |
pathogenic |
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 |
copy number loss |
See cases [RCV000054093] |
Chr2:148917286..163204623 [GRCh38] Chr2:149674855..164061133 [GRCh37] Chr2:149391325..163769379 [NCBI36] Chr2:2q23.1-24.3 |
pathogenic |
NM_006186.3(NR4A2):c.252C>T (p.Ser84=) |
single nucleotide variant |
Malignant melanoma [RCV000065127] |
Chr2:156329935 [GRCh38] Chr2:157186447 [GRCh37] Chr2:156894693 [NCBI36] Chr2:2q24.1 |
not provided |
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) |
duplication |
Autism spectrum disorder [RCV001291378] |
Chr2:156329585..156329586 [GRCh38] Chr2:157186097..157186098 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 |
copy number gain |
See cases [RCV000135402] |
Chr2:143900149..158321624 [GRCh38] Chr2:144657717..159178136 [GRCh37] Chr2:144374187..158886382 [NCBI36] Chr2:2q22.3-24.1 |
pathogenic |
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38] Chr2:155150555..176854100 [GRCh37] Chr2:154858801..176562346 [NCBI36] Chr2:2q24.1-31.1 |
pathogenic |
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 |
copy number loss |
See cases [RCV000142963] |
Chr2:153609714..158185125 [GRCh38] Chr2:154466227..159041637 [GRCh37] Chr2:154174473..158749883 [NCBI36] Chr2:2q23.3-24.1 |
pathogenic |
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 |
copy number loss |
See cases [RCV000142664] |
Chr2:151932344..159419734 [GRCh38] Chr2:152788858..160276245 [GRCh37] Chr2:152497104..159984491 [NCBI36] Chr2:2q23.3-24.2 |
pathogenic|likely pathogenic |
NM_006186.4(NR4A2):c.*1198C>T |
single nucleotide variant |
Parkinson disease, late-onset [RCV000261252] |
Chr2:156324546 [GRCh38] Chr2:157181058 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.585C>T (p.Asp195=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000394445] |
Chr2:156329602 [GRCh38] Chr2:157186114 [GRCh37] Chr2:2q24.1 |
likely benign|uncertain significance |
NM_006186.4(NR4A2):c.-223C>T |
single nucleotide variant |
Parkinson disease, late-onset [RCV000259760] |
Chr2:156332576 [GRCh38] Chr2:157189088 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1158+13C>T |
single nucleotide variant |
Parkinson disease, late-onset [RCV000405563] |
Chr2:156327838 [GRCh38] Chr2:157184350 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.357G>T (p.Ser119=) |
single nucleotide variant |
Autism [RCV000195213] |
Chr2:156329830 [GRCh38] Chr2:157186342 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.732C>A (p.Leu244=) |
single nucleotide variant |
NR4A2-related condition [RCV003922420]|Parkinson disease, late-onset [RCV000303009]|not provided [RCV000882820] |
Chr2:156329455 [GRCh38] Chr2:157185967 [GRCh37] Chr2:2q24.1 |
benign|likely benign |
Single allele |
deletion |
Autism spectrum disorder [RCV000225489] |
Chr2:154507239..157810705 [GRCh38] Chr2:155363751..158667217 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.657T>C (p.Ala219=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000357837]|not provided [RCV003430837] |
Chr2:156329530 [GRCh38] Chr2:157186042 [GRCh37] Chr2:2q24.1 |
likely benign|uncertain significance |
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 |
copy number gain |
See cases [RCV000239848] |
Chr2:156489430..182921298 [GRCh37] Chr2:2q24.1-31.3 |
pathogenic |
NM_006186.4(NR4A2):c.*659_*661del |
deletion |
Parkinson Disease, Dominant/Recessive [RCV000280528]|not provided [RCV003430836] |
Chr2:156325083..156325085 [GRCh38] Chr2:157181595..157181597 [GRCh37] Chr2:2q24.1 |
likely benign|uncertain significance |
NM_006186.4(NR4A2):c.*933G>A |
single nucleotide variant |
Parkinson disease, late-onset [RCV000316517] |
Chr2:156324811 [GRCh38] Chr2:157181323 [GRCh37] Chr2:2q24.1 |
likely benign|uncertain significance |
NM_006186.4(NR4A2):c.-166C>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000354613] |
Chr2:156332519 [GRCh38] Chr2:157189031 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.*352C>A |
single nucleotide variant |
Parkinson disease, late-onset [RCV000385507] |
Chr2:156325392 [GRCh38] Chr2:157181904 [GRCh37] Chr2:2q24.1 |
benign|likely benign |
NM_006186.4(NR4A2):c.-241C>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000368568] |
Chr2:156332594 [GRCh38] Chr2:157189106 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.*331T>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000295649] |
Chr2:156325413 [GRCh38] Chr2:157181925 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.*400CA[9] |
microsatellite |
Parkinson Disease, Dominant/Recessive [RCV000331043] |
Chr2:156325325..156325326 [GRCh38] Chr2:157181837..157181838 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.*192C>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000350620] |
Chr2:156325552 [GRCh38] Chr2:157182064 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-325C>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000273828] |
Chr2:156332678 [GRCh38] Chr2:157189190 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006186.4(NR4A2):c.1426G>C (p.Val476Leu) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003315187] |
Chr2:156326264 [GRCh38] Chr2:157182776 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-144G>A |
single nucleotide variant |
Parkinson disease, late-onset [RCV000304357] |
Chr2:156332497 [GRCh38] Chr2:157189009 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1635G>T (p.Gly545=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000347476] |
Chr2:156325906 [GRCh38] Chr2:157182418 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.3(NR4A2):c.-384T>C |
single nucleotide variant |
Parkinson disease, late-onset [RCV000333539] |
Chr2:156332737 [GRCh38] Chr2:157189249 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-227C>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000318518] |
Chr2:156332580 [GRCh38] Chr2:157189092 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.3(NR4A2):c.-387A>T |
single nucleotide variant |
Parkinson Disease, Dominant/Recessive [RCV000388031] |
Chr2:156332740 [GRCh38] Chr2:157189252 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1659C>G (p.Ser553=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000287586] |
Chr2:156325882 [GRCh38] Chr2:157182394 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1746G>A (p.Val582=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000392537] |
Chr2:156325795 [GRCh38] Chr2:157182307 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.*822A>C |
single nucleotide variant |
Parkinson disease, late-onset [RCV000375093] |
Chr2:156324922 [GRCh38] Chr2:157181434 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.3(NR4A2):c.*1311A>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV000360741] |
Chr2:156324433 [GRCh38] Chr2:157180945 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006186.4(NR4A2):c.327dup (p.Ser110fs) |
duplication |
Epilepsy [RCV000656523] |
Chr2:156329859..156329860 [GRCh38] Chr2:157186371..157186372 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3 |
drug response |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 |
copy number gain |
not provided [RCV000740654] |
Chr2:152409978..179325736 [GRCh37] Chr2:2q23.3-31.2 |
pathogenic |
NM_006186.4(NR4A2):c.489C>A (p.Ile163=) |
single nucleotide variant |
not provided [RCV000891735] |
Chr2:156329698 [GRCh38] Chr2:157186210 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.75C>T (p.His25=) |
single nucleotide variant |
not provided [RCV000921132] |
Chr2:156330112 [GRCh38] Chr2:157186624 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1047G>C (p.Pro349=) |
single nucleotide variant |
not provided [RCV000936304] |
Chr2:156327962 [GRCh38] Chr2:157184474 [GRCh37] Chr2:2q24.1 |
likely benign |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_006186.4(NR4A2):c.1638G>A (p.Leu546=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001131971] |
Chr2:156325903 [GRCh38] Chr2:157182415 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132917] |
Chr2:156326806 [GRCh38] Chr2:157183318 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001136356] |
Chr2:156329862 [GRCh38] Chr2:157186374 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132920] |
Chr2:156326916 [GRCh38] Chr2:157183428 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:157124370-157470128)x1 |
copy number loss |
not provided [RCV000847405] |
Chr2:157124370..157470128 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.947A>G (p.Gln316Arg) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003219203] |
Chr2:156328451 [GRCh38] Chr2:157184963 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1 |
copy number loss |
not provided [RCV001005326] |
Chr2:147173792..158346266 [GRCh37] Chr2:2q22.3-24.1 |
pathogenic |
GRCh37/hg19 2q24.1(chr2:156773914-157954702)x3 |
copy number gain |
not provided [RCV000849189] |
Chr2:156773914..157954702 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:157170397-157846289)x3 |
copy number gain |
not provided [RCV001005345] |
Chr2:157170397..157846289 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.968G>T (p.Cys323Phe) |
single nucleotide variant |
not provided [RCV001217156] |
Chr2:156328430 [GRCh38] Chr2:157184942 [GRCh37] Chr2:2q24.1 |
pathogenic|uncertain significance |
NM_006186.4(NR4A2):c.881dup (p.Asn294fs) |
duplication |
Parkinson disease, late-onset [RCV001196350] |
Chr2:156328516..156328517 [GRCh38] Chr2:157185028..157185029 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1548C>T (p.His516=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132916] |
Chr2:156325993 [GRCh38] Chr2:157182505 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132919] |
Chr2:156326909 [GRCh38] Chr2:157183421 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn) |
single nucleotide variant |
Autism spectrum disorder [RCV003127336] |
Chr2:156325975 [GRCh38] Chr2:157182487 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1405del (p.Val469fs) |
deletion |
Developmental disorder [RCV003127337] |
Chr2:156326285 [GRCh38] Chr2:157182797 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.819A>G (p.Gln273=) |
single nucleotide variant |
not provided [RCV000930292] |
Chr2:156329368 [GRCh38] Chr2:157185880 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1108A>C (p.Arg370=) |
single nucleotide variant |
not provided [RCV000930355] |
Chr2:156327901 [GRCh38] Chr2:157184413 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1467C>T (p.Phe489=) |
single nucleotide variant |
not provided [RCV000938564] |
Chr2:156326223 [GRCh38] Chr2:157182735 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.*1017T>C |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129265] |
Chr2:156324727 [GRCh38] Chr2:157181239 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-253C>T |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129364] |
Chr2:156332606 [GRCh38] Chr2:157189118 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001131972] |
Chr2:156325953 [GRCh38] Chr2:157182465 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1230G>A (p.Leu410=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132918] |
Chr2:156326849 [GRCh38] Chr2:157183361 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1494_1497dup (p.Ile500fs) |
duplication |
not provided [RCV000997240] |
Chr2:156326192..156326193 [GRCh38] Chr2:157182704..157182705 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.1235G>T (p.Gly412Val) |
single nucleotide variant |
not provided [RCV003237111] |
Chr2:156326844 [GRCh38] Chr2:157183356 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001136357] |
Chr2:156329862 [GRCh38] Chr2:157186374 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-304C>T |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129365] |
Chr2:156332657 [GRCh38] Chr2:157189169 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:157117939-158422574)x1 |
copy number loss |
not provided [RCV001005344] |
Chr2:157117939..158422574 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.360T>G (p.Val120=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001136355] |
Chr2:156329827 [GRCh38] Chr2:157186339 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.591C>A (p.Pro197=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001136353] |
Chr2:156329596 [GRCh38] Chr2:157186108 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.372C>T (p.Pro124=) |
single nucleotide variant |
Parkinson disease, late-onset [RCV001136354] |
Chr2:156329815 [GRCh38] Chr2:157186327 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.*1249A>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129264] |
Chr2:156324495 [GRCh38] Chr2:157181007 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.*599T>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129266] |
Chr2:156325145 [GRCh38] Chr2:157181657 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.3(NR4A2):c.-437A>G |
single nucleotide variant |
Parkinson disease, late-onset [RCV001132086] |
Chr2:156332790 [GRCh38] Chr2:157189302 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.825C>A (p.Tyr275Ter) |
single nucleotide variant |
not provided [RCV001091992] |
Chr2:156329362 [GRCh38] Chr2:157185874 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.-339C>A |
single nucleotide variant |
Parkinson disease, late-onset [RCV001129366] |
Chr2:156332692 [GRCh38] Chr2:157189204 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1 |
copy number loss |
not provided [RCV001259776] |
Chr2:156696086..159450561 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NC_000002.12:g.156333107dup |
duplication |
not provided [RCV001619173] |
Chr2:156333105..156333106 [GRCh38] Chr2:157189617..157189618 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.79T>C (p.Ser27Pro) |
single nucleotide variant |
not provided [RCV001727159] |
Chr2:156330108 [GRCh38] Chr2:157186620 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe) |
single nucleotide variant |
Parkinson disease, late-onset [RCV002250155] |
Chr2:156328502 [GRCh38] Chr2:157185014 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.386C>A (p.Thr129Lys) |
single nucleotide variant |
not provided [RCV001760883] |
Chr2:156329801 [GRCh38] Chr2:157186313 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.289A>G (p.Met97Val) |
single nucleotide variant |
NR4A2-related condition [RCV003903636]|not provided [RCV003883797]|not specified [RCV002248056] |
Chr2:156329898 [GRCh38] Chr2:157186410 [GRCh37] Chr2:2q24.1 |
likely benign|uncertain significance |
NM_006186.4(NR4A2):c.1423T>A (p.Cys475Ser) |
single nucleotide variant |
not provided [RCV001763050] |
Chr2:156326267 [GRCh38] Chr2:157182779 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1167del (p.Asn390fs) |
deletion |
not provided [RCV001752459] |
Chr2:156326912 [GRCh38] Chr2:157183424 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.326dup (p.Ser110fs) |
duplication |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002260708]|not provided [RCV001768603] |
Chr2:156329860..156329861 [GRCh38] Chr2:157186372..157186373 [GRCh37] Chr2:2q24.1 |
pathogenic|uncertain significance |
NM_006186.4(NR4A2):c.1764T>G (p.Ile588Met) |
single nucleotide variant |
not provided [RCV001758202] |
Chr2:156325777 [GRCh38] Chr2:157182289 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1670G>C (p.Gly557Ala) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV001801259] |
Chr2:156325871 [GRCh38] Chr2:157182383 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1157_1158insCCTGGACTAGACCAGCCTGGACTATTCCAG (p.Arg386delinsSerLeuAspTer) |
insertion |
Global developmental delay [RCV001779399] |
Chr2:156327851..156327852 [GRCh38] Chr2:157184363..157184364 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter) |
single nucleotide variant |
History of neurodevelopmental disorder [RCV001825194] |
Chr2:156325965 [GRCh38] Chr2:157182477 [GRCh37] Chr2:2q24.1 |
not provided |
GRCh37/hg19 2q24.1(chr2:157058119-157183736)x1 |
copy number loss |
Complex neurodevelopmental disorder [RCV001823861] |
Chr2:157058119..157183736 [GRCh37] Chr2:2q24.1 |
pathogenic |
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3 |
copy number gain |
not provided [RCV001825170] |
Chr2:152967964..160089210 [GRCh37] Chr2:2q23.3-24.2 |
not provided |
GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1 |
copy number loss |
not provided [RCV001827767] |
Chr2:154328530..158759642 [GRCh37] Chr2:2q23.3-24.1 |
pathogenic |
GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1 |
copy number loss |
not provided [RCV001827793] |
Chr2:154852961..159126250 [GRCh37] Chr2:2q23.3-24.1 |
pathogenic |
NM_006186.4(NR4A2):c.308A>G (p.His103Arg) |
single nucleotide variant |
not specified [RCV002248055] |
Chr2:156329879 [GRCh38] Chr2:157186391 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.325del (p.Gln109fs) |
deletion |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003151948] |
Chr2:156329862 [GRCh38] Chr2:157186374 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.158C>T (p.Ala53Val) |
single nucleotide variant |
not provided [RCV002244484] |
Chr2:156330029 [GRCh38] Chr2:157186541 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.281A>T (p.Asp94Val) |
single nucleotide variant |
not provided [RCV002273695] |
Chr2:156329906 [GRCh38] Chr2:157186418 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1118T>G (p.Val373Gly) |
single nucleotide variant |
not provided [RCV002274768] |
Chr2:156327891 [GRCh38] Chr2:157184403 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.698del (p.Pro233fs) |
deletion |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002291393] |
Chr2:156329489 [GRCh38] Chr2:157186001 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.1144C>G (p.Leu382Val) |
single nucleotide variant |
not provided [RCV002275820] |
Chr2:156327865 [GRCh38] Chr2:157184377 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.914G>A (p.Cys305Tyr) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002260904] |
Chr2:156328484 [GRCh38] Chr2:157184996 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.956G>A (p.Arg319Gln) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002260905] |
Chr2:156328442 [GRCh38] Chr2:157184954 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.839G>A (p.Cys280Tyr) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002260903] |
Chr2:156329348 [GRCh38] Chr2:157185860 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.943T>C (p.Cys315Arg) |
single nucleotide variant |
Neurodevelopmental delay [RCV002274361] |
Chr2:156328455 [GRCh38] Chr2:157184967 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.64T>C (p.Tyr22His) |
single nucleotide variant |
not provided [RCV002469559] |
Chr2:156330123 [GRCh38] Chr2:157186635 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3 |
copy number gain |
not provided [RCV002472484] |
Chr2:156528912..158233672 [GRCh37] Chr2:2q24.1 |
uncertain significance |
GRCh37/hg19 2q24.1(chr2:156996368-157372032)x1 |
copy number loss |
not provided [RCV002472516] |
Chr2:156996368..157372032 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.1786_1787del (p.Leu596fs) |
deletion |
not provided [RCV002300943] |
Chr2:156325754..156325755 [GRCh38] Chr2:157182266..157182267 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.605T>C (p.Met202Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002773204] |
Chr2:156329582 [GRCh38] Chr2:157186094 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.994+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002865514] |
Chr2:156328401 [GRCh38] Chr2:157184913 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.854G>A (p.Gly285Asp) |
single nucleotide variant |
Complex neurodevelopmental disorder [RCV002795916] |
Chr2:156329333 [GRCh38] Chr2:157185845 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.368A>G (p.Lys123Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002737632] |
Chr2:156329819 [GRCh38] Chr2:157186331 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.665A>G (p.Asn222Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002644799] |
Chr2:156329522 [GRCh38] Chr2:157186034 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.551G>C (p.Gly184Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002826826] |
Chr2:156329636 [GRCh38] Chr2:157186148 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.755C>A (p.Pro252Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002673889] |
Chr2:156329432 [GRCh38] Chr2:157185944 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.892G>T (p.Val298Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002855355] |
Chr2:156328506 [GRCh38] Chr2:157185018 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.353G>C (p.Gly118Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003181005] |
Chr2:156329834 [GRCh38] Chr2:157186346 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.863A>G (p.Lys288Arg) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003223543] |
Chr2:156329324 [GRCh38] Chr2:157185836 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.899T>C (p.Leu300Ser) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003133074] |
Chr2:156328499 [GRCh38] Chr2:157185011 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.591_592del (p.Leu198fs) |
deletion |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003322656] |
Chr2:156329595..156329596 [GRCh38] Chr2:157186107..157186108 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.1579C>G (p.Leu527Val) |
single nucleotide variant |
not provided [RCV003330040] |
Chr2:156325962 [GRCh38] Chr2:157182474 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.863A>C (p.Lys288Thr) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003325933] |
Chr2:156329324 [GRCh38] Chr2:157185836 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.604A>G (p.Met202Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003343150] |
Chr2:156329583 [GRCh38] Chr2:157186095 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.1159-3C>T |
single nucleotide variant |
not specified [RCV003331784] |
Chr2:156326923 [GRCh38] Chr2:157183435 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.822C>G (p.His274Gln) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003333476] |
Chr2:156329365 [GRCh38] Chr2:157185877 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.854G>T (p.Gly285Val) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003333338] |
Chr2:156329333 [GRCh38] Chr2:157185845 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NM_006186.4(NR4A2):c.798T>G (p.Cys266Trp) |
single nucleotide variant |
not provided [RCV003332835] |
Chr2:156329389 [GRCh38] Chr2:157185901 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NC_000002.12:g.156238340T>C |
single nucleotide variant |
not provided [RCV003429306] |
Chr2:156238340 [GRCh38] Chr2:157094852 [GRCh37] Chr2:2q24.1 |
benign |
GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1 |
copy number loss |
not provided [RCV003485116] |
Chr2:156828817..158377885 [GRCh37] Chr2:2q24.1 |
pathogenic |
NM_006186.4(NR4A2):c.1287C>T (p.Asp429=) |
single nucleotide variant |
not provided [RCV003429307] |
Chr2:156326792 [GRCh38] Chr2:157183304 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1255G>T (p.Gly419Cys) |
single nucleotide variant |
NR4A2-related condition [RCV003416786] |
Chr2:156326824 [GRCh38] Chr2:157183336 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.709_711del (p.Ile237del) |
deletion |
NR4A2-related condition [RCV003414481] |
Chr2:156329476..156329478 [GRCh38] Chr2:157185988..157185990 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.717C>T (p.His239=) |
single nucleotide variant |
not provided [RCV003429308] |
Chr2:156329470 [GRCh38] Chr2:157185982 [GRCh37] Chr2:2q24.1 |
benign |
NM_006186.4(NR4A2):c.934C>T (p.Arg312Trp) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003494082] |
Chr2:156328464 [GRCh38] Chr2:157184976 [GRCh37] Chr2:2q24.1 |
likely pathogenic |
NC_000002.12:g.156332819T>A |
single nucleotide variant |
NR4A2-related condition [RCV003981823] |
Chr2:156332819 [GRCh38] Chr2:157189331 [GRCh37] Chr2:2q24.1 |
likely benign |
NM_006186.4(NR4A2):c.1789C>T (p.Pro597Ser) |
single nucleotide variant |
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV003989049] |
Chr2:156325752 [GRCh38] Chr2:157182264 [GRCh37] |
uncertain significance |
NM_006186.4(NR4A2):c.325dup (p.Gln109fs) |
duplication |
Inborn genetic diseases [RCV001266179]|Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism [RCV002260695]|Neurodevelopmental disorder [RCV001724280]|not provided [RCV002275338] |
Chr2:156329861..156329862 [GRCh38] Chr2:157186373..157186374 [GRCh37] Chr2:2q24.1 |
pathogenic |
GRCh37/hg19 2q24.1(chr2:156976385-157350281)x1 |
copy number loss |
not provided [RCV000848812] |
Chr2:156976385..157350281 [GRCh37] Chr2:2q24.1 |
uncertain significance |
NM_006186.4(NR4A2):c.512C>T (p.Ser171Phe) |
single nucleotide variant |
not provided [RCV003126409] |
Chr2:156329675 [GRCh38] Chr2:157186187 [GRCh37] Chr2:2q24.1 |
uncertain significance |