"GeneDx"[submitter] AND "UFSP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 916581	NM_018359.5(UFSP2):c.1283A>G (p.His428Arg)	UFSP2 (H428R)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, di rocco type +1 more	GLikely pathogenic
Select item 2329200	NM_018359.5(UFSP2):c.857G>C (p.Gly286Ala)	UFSP2 (G286A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 253676	GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1	ANKRD37, CCDC110 +19 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic