"GeneDx"[submitter] AND "LOC129932155"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 157793	NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)	ASPM, LOC129932155 (A75T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 390874	NM_018136.5(ASPM):c.177C>G (p.Ala59=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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