"GeneDx"[submitter] AND "LOC119407423"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 351247	NC_000005.10:g.140691368G>A	HARS1, HARS2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 390694	NM_012208.4(HARS2):c.-32C>T	LOC119407423, HARS2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 137536	NM_012208.4(HARS2):c.7C>G (p.Leu3Val)	HARS2, LOC119407423 (L3V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3361452	NM_012208.4(HARS2):c.73G>C (p.Ala25Pro)	HARS2, LOC119407423 (A25P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2136282	NM_012208.4(HARS2):c.94C>G (p.Arg32Gly)	HARS2, LOC119407423 (R32G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar