"GeneDx"[submitter] AND "LOC100130691"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 683748	NM_003659.3(AGPS):c.-304G>A	AGPS, LOC100130691	Single nucleotide variant	not provided	GBenign
Select item 1257129	NC_000002.12:g.177392624G>C	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1213247	NC_000002.12:g.177392631G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 675020	NM_003659.3(AGPS):c.-127G>A	AGPS, LOC100130691	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

ClinVar