RNU4-1[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 3068742	NR_003137.3(RNU4-2):n.64_65insT	RNU4-1, RNU4-2 +1 more	Insertion (non-coding transcript variant)	Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language +2 more	GPathogenic
Select item 3362398	NR_003925.1(RNU4-1):n.96T>G	RNU4-1, SIRT4	Single nucleotide variant (non-coding transcript variant +1 more)	RNU4-1-associated neurodevelopmental disorder	GUncertain significance

ClinVar