"GeneDx"[submitter] AND "LOC129932912"[gene] - ClinVar

	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 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 60192	GRCh38/hg38 1q44(chr1:244692061-245647727)x1	C1orf202, COX20 +31 more	Copy number loss	See cases	GPathogenic
Select item 509566	NM_198076.6(COX20):c.30C>G (p.Pro10=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 383938	NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	LOC129932912, COX20 (K14R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GPathogenic
Select item 137020	NM_198076.6(COX20):c.42+9G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1704931	NM_198076.6(COX20):c.42+156dup	COX20, LOC129932912	Duplication (intron variant)	not provided	GLikely benign

ClinVar