ClinVar for Gene (Select 115409980) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar