"GeneDx"[submitter] AND "GGPS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1232303	NM_004837.4(GGPS1):c.43C>T (p.Pro15Ser)	GGPS1	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic

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