"GeneDx"[submitter] AND "LOC130060303"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 384201	NM_001303.4(COX10):c.15G>T (p.Pro5=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 137005	NM_001303.4(COX10):c.33C>T (p.Arg11=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

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