"GeneDx"[submitter] AND "LOC130057083"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 1270209	NM_016194.4(GNB5):c.238+269del	GNB5, LOC130057083	Deletion (intron variant)	not provided	GBenign
Select item 1247171	NM_016194.4(GNB5):c.238+269T>C	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199120	NM_016194.4(GNB5):c.238+265G>T	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193655	NM_016194.4(GNB5):c.238+207G>A	GNB5, LOC130057083	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209531	NM_016194.4(GNB5):c.238+154G>C	GNB5, LOC130057083	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1188787	NM_016194.4(GNB5):c.165G>T (p.Ala55=)	GNB5, LOC130057083	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1247959	NM_016194.4(GNB5):c.127-44A>G	GNB5, LOC130057083	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1277738	NM_016194.4(GNB5):c.127-197C>G	CERNA1, GNB5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

ClinVar