"GeneDx"[submitter] AND "LOC129931108"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 3363275	NM_006496.4(GNAI3):c.76G>A (p.Asp26Asn)	GNAI3, LOC129931108 (D26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243082	NM_006496.4(GNAI3):c.105G>A (p.Lys35=)	GNAI3, LOC129931108	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 31636	NM_006496.4(GNAI3):c.118G>C (p.Gly40Arg)	GNAI3, LOC129931108 (G40R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1321638	NM_006496.4(GNAI3):c.118+1G>C	GNAI3, LOC129931108	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

ClinVar