Related gene-specific medical variations for Gene (Select 4929) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2651440	NC_000002.12:g.156238340T>C	LINC01876, NR4A2	Single nucleotide variant	not provided	GBenign
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 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 2434437	NM_006186.4(NR4A2):c.899T>C (p.Leu300Ser)	NR4A2 (L237S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	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 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 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 1339340	GRCh37/hg19 2q24.1(chr2:157058119-157183736)x1	NR4A2	Copy number loss	Complex neurodevelopmental disorder	GPathogenic
Select item 1330227	NM_006186.4(NR4A2):c.1670G>C (p.Gly557Ala)	NR4A2 (G494A +1 more)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GUncertain significance
Select item 930579	NM_006186.4(NR4A2):c.881dup (p.Asn294fs)	NR4A2 (N231fs +1 more)	Duplication (frameshift variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892776	NM_006186.4(NR4A2):c.-304C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 892775	NM_006186.4(NR4A2):c.-253C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331668	NM_006186.4(NR4A2):c.-241C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331667	NM_006186.4(NR4A2):c.-227C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331666	NM_006186.4(NR4A2):c.-223C>T	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GLikely benign
Select item 331665	NM_006186.4(NR4A2):c.-166C>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 331664	NM_006186.4(NR4A2):c.-144G>A	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 7680	NM_006186.4(NR4A2):c.-245T>G	LOC129934941, NR4A2	Single nucleotide variant (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance
Select item 7679	NM_006186.4(NR4A2):c.-291del	LOC129934941, NR4A2	Deletion (5 prime UTR variant)	Parkinson disease, late-onset	GUncertain significance

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Links from Gene

Items: 25