"GeneDx"[submitter] AND "LOC129931109"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 1098760	NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)	AMPD2, LOC129931109 (A28T)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +3 more	GBenign/Likely benign

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