"GeneDx"[submitter] AND "LOC117038795"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 1282221	NC_000019.10:g.12806286G>C	LOC117038795, RNASEH2A	Single nucleotide variant	not provided	GBenign
Select item 328288	NM_006397.3(RNASEH2A):c.-16T>C	LOC117038795, RNASEH2A	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 4 +2 more	GBenign
Select item 259971	NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 66067	NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +2 more	GPathogenic/Likely pathogenic

ClinVar