"GeneDx"[submitter] AND "LOC129998720"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 594574	NM_012301.4(MAGI2):c.4001G>T (p.Gly1334Val)	LOC129998720, MAGI2 (G1334V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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