ClinVar for Gene (Select 4929) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372349	NM_006186.4(NR4A2):c.1570G>C (p.Val524Leu)	NR4A2 (V461L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369756	NM_006186.4(NR4A2):c.806A>G (p.Asn269Ser)	NR4A2 (N206S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367407	NM_006186.4(NR4A2):c.1098T>G (p.Ser366Arg)	NR4A2 (S303R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367023	NM_006186.4(NR4A2):c.1715G>C (p.Arg572Pro)	NR4A2 (R509P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3364748	NM_006186.4(NR4A2):c.1410G>C (p.Leu470Phe)	NR4A2 (L407F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364487	NM_006186.4(NR4A2):c.319C>T (p.Pro107Ser)	NR4A2 (P107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359842	NM_006186.4(NR4A2):c.845G>T (p.Gly282Val)	NR4A2 (G219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359320	NM_006186.4(NR4A2):c.1723T>C (p.Tyr575His)	NR4A2 (Y512H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359316	NM_006186.4(NR4A2):c.-3+1G>A	NR4A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3352413	NM_006186.4(NR4A2):c.1361+1G>A	NR4A2	Single nucleotide variant (splice donor variant)	NR4A2-related disorder	GLikely pathogenic
Select item 3342357	NM_006186.4(NR4A2):c.174dup (p.Ser59fs)	NR4A2 (S59fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3338882	NM_006186.4(NR4A2):c.374C>G (p.Ser125Cys)	NR4A2 (S125C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338478	NM_006186.4(NR4A2):c.30_31insG (p.Ser11fs)	NR4A2 (S11fs)	Insertion (frameshift variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338477	NM_006186.4(NR4A2):c.548del (p.Pro183fs)	NR4A2 (P120fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338476	NM_006186.4(NR4A2):c.14_15insT (p.Gln5fs)	NR4A2 (Q5fs)	Insertion (frameshift variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338475	NM_006186.4(NR4A2):c.537G>C (p.Lys179Asn)	NR4A2 (K116N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3338474	NM_006186.4(NR4A2):c.-2-8del	NR4A2	Deletion (intron variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3338047	NM_006186.4(NR4A2):c.-2-2del	NR4A2	Deletion (intron variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338031	NM_006186.4(NR4A2):c.536_537delinsGC (p.Lys179Ser)	NR4A2 (K116S +1 more)	Indel (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3338030	NM_006186.4(NR4A2):c.536del (p.Lys179fs)	NR4A2 (K116fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338026	NM_006186.4(NR4A2):c.5_6delinsTG (p.Pro2Leu)	NR4A2 (P2L)	Indel (missense variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3338025	NM_006186.4(NR4A2):c.1del (p.Met1fs)	NR4A2 (M1fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338024	NM_006186.4(NR4A2):c.1159-81_1540+67del	NR4A2	Deletion (splice acceptor variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338016	NM_006186.4(NR4A2):c.534del (p.Phe178fs)	NR4A2 (F115fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3338013	NM_006186.4(NR4A2):c.44_45insA (p.Ser16fs)	NR4A2 (S16fs)	Insertion (frameshift variant +1 more)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 3336538	NM_006186.4(NR4A2):c.1147G>A (p.Asp383Asn)	NR4A2 (D320N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300973	NM_006186.4(NR4A2):c.602C>A (p.Pro201His)	NR4A2 (P201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300972	NM_006186.4(NR4A2):c.334G>A (p.Glu112Lys)	NR4A2 (E112K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300971	NM_006186.4(NR4A2):c.320C>T (p.Pro107Leu)	NR4A2 (P44L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3300970	NM_006186.4(NR4A2):c.610C>A (p.Pro204Thr)	NR4A2 (P141T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258076	NM_006186.4(NR4A2):c.1511C>T (p.Ser504Phe)	NR4A2 (S441F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3256745	NM_006186.4(NR4A2):c.920T>G (p.Val307Gly)	NR4A2 (V244G +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3253459	NM_006186.4(NR4A2):c.1021C>G (p.Arg341Gly)	NR4A2 (R278G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252393	NM_006186.4(NR4A2):c.892G>A (p.Val298Met)	NR4A2 (V235M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220885	NM_006186.4(NR4A2):c.859T>C (p.Phe287Leu)	NR4A2 (F224L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3201968	NM_006186.4(NR4A2):c.691G>A (p.Gly231Ser)	NR4A2 (G231S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201967	NM_006186.4(NR4A2):c.680C>T (p.Pro227Leu)	NR4A2 (P227L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201965	NM_006186.4(NR4A2):c.1362G>A (p.Arg454=)	NR4A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3201964	NM_006186.4(NR4A2):c.1096A>G (p.Ser366Gly)	NR4A2 (S366G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068081	NM_006186.4(NR4A2):c.916C>G (p.Pro306Ala)	NR4A2 (P243A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3068080	NM_006186.4(NR4A2):c.960_961delinsGT (p.Phe320_Gln321delinsLeuTer)	NR4A2	Indel (nonsense)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3067505	NM_006186.4(NR4A2):c.1577A>G (p.Glu526Gly)	NR4A2 (E463G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066310	NM_006186.4(NR4A2):c.968G>A (p.Cys323Tyr)	NR4A2 (C260Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3065339	NM_006186.4(NR4A2):c.1157G>C (p.Arg386Thr)	NR4A2 (R323T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 3064509	NM_006186.4(NR4A2):c.1789C>T (p.Pro597Ser)	NR4A2 (P534S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 3058074	NC_000002.12:g.156332819T>A	NR4A2	Single nucleotide variant	NR4A2-related disorder	GLikely benign
Select item 2691885	NM_006186.4(NR4A2):c.934C>T (p.Arg312Trp)	NR4A2 (R249W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2684808	GRCh37/hg19 2q24.1(chr2:156828817-158377885)x1	CYTIP, ERMN +3 more	Copy number loss	not provided	GPathogenic
Select item 2651442	NM_006186.4(NR4A2):c.717C>T (p.His239=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651441	NM_006186.4(NR4A2):c.1287C>T (p.Asp429=)	NR4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651440	NC_000002.12:g.156238340T>C	LINC01876, NR4A2	Single nucleotide variant	not provided	GBenign
Select item 2632378	NM_006186.4(NR4A2):c.1255G>T (p.Gly419Cys)	NR4A2 (G356C +1 more)	Single nucleotide variant (missense variant)	NR4A2-related disorder	GUncertain significance
Select item 2631914	NM_006186.4(NR4A2):c.709_711del (p.Ile237del)	NR4A2 (I174del +1 more)	Deletion (inframe_deletion)	NR4A2-related disorder	GUncertain significance
Select item 2604027	NM_006186.4(NR4A2):c.604A>G (p.Met202Val)	NR4A2 (M202V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582489	NM_006186.4(NR4A2):c.822C>G (p.His274Gln)	NR4A2 (H211Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 2582359	NM_006186.4(NR4A2):c.854G>T (p.Gly285Val)	NR4A2 (G222V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2582129	NM_006186.4(NR4A2):c.798T>G (p.Cys266Trp)	NR4A2 (C203W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581379	NM_006186.4(NR4A2):c.1159-3C>T	NR4A2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2580845	NM_006186.4(NR4A2):c.1579C>G (p.Leu527Val)	NR4A2 (L464V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578337	NM_006186.4(NR4A2):c.863A>C (p.Lys288Thr)	NR4A2 (K225T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2576541	NM_006186.4(NR4A2):c.591_592del (p.Leu198fs)	NR4A2 (L135fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 2575592	NM_006186.4(NR4A2):c.15G>C (p.Gln5His)	NR4A2 (Q5H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2573073	NM_006186.4(NR4A2):c.1426G>C (p.Val476Leu)	NR4A2 (V413L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 2506742	NM_006186.4(NR4A2):c.1235G>T (p.Gly412Val)	NR4A2 (G349V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499614	NM_006186.4(NR4A2):c.863A>G (p.Lys288Arg)	NR4A2 (K225R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2498142	NM_006186.4(NR4A2):c.947A>G (p.Gln316Arg)	NR4A2 (Q253R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 2472904	NM_006186.4(NR4A2):c.353G>C (p.Gly118Ala)	NR4A2 (G55A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443341	NM_006186.4(NR4A2):c.325del (p.Gln109fs)	NR4A2 (Q109fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic
Select item 2434437	NM_006186.4(NR4A2):c.899T>C (p.Leu300Ser)	NR4A2 (L237S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429898	NM_006186.4(NR4A2):c.1405del (p.Val469fs)	NR4A2 (V406fs +1 more)	Deletion (frameshift variant)	Developmental disorder	GLikely pathogenic
Select item 2429897	NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)	NR4A2 (K459N +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429483	NM_006186.4(NR4A2):c.512C>T (p.Ser171Phe)	NR4A2 (S108F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2377115	NM_006186.4(NR4A2):c.755C>A (p.Pro252Gln)	NR4A2 (P252Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298791	NM_006186.4(NR4A2):c.994+3A>G	NR4A2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2296717	NM_006186.4(NR4A2):c.892G>T (p.Val298Leu)	NR4A2 (V235L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273970	NM_006186.4(NR4A2):c.551G>C (p.Gly184Ala)	NR4A2 (G121A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261452	NM_006186.4(NR4A2):c.605T>C (p.Met202Thr)	NR4A2 (M202T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243343	NM_006186.4(NR4A2):c.368A>G (p.Lys123Arg)	NR4A2 (K123R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204730	NM_006186.4(NR4A2):c.665A>G (p.Asn222Ser)	NR4A2 (N159S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992352	NM_006186.4(NR4A2):c.854G>A (p.Gly285Asp)	NR4A2 (G222D +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 1807710	GRCh37/hg19 2q24.1(chr2:156996368-157372032)x1	GPD2, NR4A2	Copy number loss	not provided	GLikely pathogenic
Select item 1807678	GRCh37/hg19 2q24.1(chr2:156528912-158233672)x3	ERMN, GALNT5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1804258	NM_006186.4(NR4A2):c.64T>C (p.Tyr22His)	NR4A2 (Y22H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712771	NM_006186.4(NR4A2):c.1786_1787del (p.Leu596fs)	NR4A2 (L533fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1710386	NM_006186.4(NR4A2):c.698del (p.Pro233fs)	NR4A2 (P170fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1700885	NM_006186.4(NR4A2):c.1144C>G (p.Leu382Val)	NR4A2 (L319V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700519	NM_006186.4(NR4A2):c.1118T>G (p.Val373Gly)	NR4A2 (V310G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700112	NM_006186.4(NR4A2):c.943T>C (p.Cys315Arg)	NR4A2 (C252R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1699838	NM_006186.4(NR4A2):c.281A>T (p.Asp94Val)	NR4A2 (D31V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693498	NM_006186.4(NR4A2):c.956G>A (p.Arg319Gln)	NR4A2 (R256Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 1693496	NM_006186.4(NR4A2):c.914G>A (p.Cys305Tyr)	NR4A2 (C242Y)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 1693495	NM_006186.4(NR4A2):c.839G>A (p.Cys280Tyr)	NR4A2 (C280Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GPathogenic
Select item 1685988	NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)	NR4A2 (C236F +1 more)	Single nucleotide variant (missense variant)	Parkinson disease, late-onset	GPathogenic
Select item 1684964	NM_006186.4(NR4A2):c.289A>G (p.Met97Val)	NR4A2 (M34V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1684963	NM_006186.4(NR4A2):c.308A>G (p.His103Arg)	NR4A2 (H103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683962	NM_006186.4(NR4A2):c.158C>T (p.Ala53Val)	NR4A2 (A53V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1340408	GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1	ACVR1, ACVR1C +9 more	Copy number loss	not provided	GPathogenic
Select item 1340352	GRCh37/hg19 2q23.3-24.1(chr2:154328530-158759642)x1	ACVR1, ACVR1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1339811	NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter)	NR4A2 (E463* +1 more)	Single nucleotide variant (nonsense)	History of neurodevelopmental disorder	Gnot provided

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