"GeneDx"[submitter] AND "LOC129992929"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 242188	NM_183075.3(CYP2U1):c.490+6C>T	CYP2U1, LOC129992929	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign

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