"GeneDx"[submitter] AND "LOC130063270"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 1520746	NM_004793.4(LONP1):c.356A>G (p.Asp119Gly)	LOC130063270, LONP1 (D55G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3368178	NM_004793.4(LONP1):c.343A>G (p.Met115Val)	LOC130063270, LONP1 (M115V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1803395	NM_004793.4(LONP1):c.341C>A (p.Pro114His)	LOC130063270, LONP1 (P114H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1320530	NM_004793.4(LONP1):c.310G>C (p.Gly104Arg)	LOC130063270, LONP1 (G104R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar