NR4A1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 737337	NM_173157.3(NR4A1):c.72C>T (p.Asp24=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2392135	NM_173157.3(NR4A1):c.113C>T (p.Ala38Val)	NR4A1 (A38V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739824	NM_173157.3(NR4A1):c.120C>T (p.Pro40=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750788	NM_173157.3(NR4A1):c.237C>A (p.Ser79=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456955	NM_173157.3(NR4A1):c.428C>T (p.Thr143Met)	NR4A1 (T143M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319611	NM_173157.3(NR4A1):c.487C>T (p.Pro163Ser)	NR4A1 (P163S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236042	NM_173157.3(NR4A1):c.548C>T (p.Pro183Leu)	NR4A1 (P183L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787926	NM_173157.3(NR4A1):c.588C>T (p.Thr196=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2392421	NM_173157.3(NR4A1):c.653T>G (p.Leu218Arg)	NR4A1 (L218R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401910	NM_173157.3(NR4A1):c.683C>T (p.Thr228Met)	NR4A1 (T228M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742291	NM_173157.3(NR4A1):c.771C>T (p.Ser257=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779948	NM_173157.3(NR4A1):c.877-7C>T	NR4A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747661	NM_173157.3(NR4A1):c.877-7C>A	NR4A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2222680	NM_173157.3(NR4A1):c.904A>G (p.Ile302Val)	NR4A1 (I356V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734627	NM_173157.3(NR4A1):c.954C>T (p.Arg318=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2242338	NM_173157.3(NR4A1):c.986C>T (p.Ala329Val)	NR4A1 (A329V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511752	NM_173157.3(NR4A1):c.1199C>T (p.Ala400Val)	NR4A1 (A400V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739666	NM_173157.3(NR4A1):c.1221C>T (p.Tyr407=)	NR4A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778444	NM_173157.3(NR4A1):c.1253G>A (p.Arg418His)	NR4A1 (R431H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2369937	NM_173157.3(NR4A1):c.1389C>G (p.Ile463Met)	NR4A1 (I463M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205659	NM_173157.3(NR4A1):c.1415G>A (p.Arg472Gln)	NR4A1 (R472Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220870	NM_173157.3(NR4A1):c.1633G>A (p.Glu545Lys)	NR4A1AS, NR4A1 (E558K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386019	NM_173157.3(NR4A1):c.1655T>C (p.Leu552Pro)	NR4A1, NR4A1AS (L552P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404758	NM_173157.3(NR4A1):c.1660C>T (p.Arg554Cys)	NR4A1, NR4A1AS (R608C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351512	NM_173157.3(NR4A1):c.1688G>A (p.Arg563Gln)	NR4A1, NR4A1AS (R563Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 32