"GeneDx"[submitter] AND "LOC108281111"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 151241	GRCh38/hg38 14q13.3(chr14:36533448-37341419)x1	LOC108281111, LOC110120902 +10 more	Copy number loss	See cases	GPathogenic
Select item 1277566	NM_006194.4(PAX9):c.-393-1028A>G	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264409	NM_006194.4(PAX9):c.-393-972C>G	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247478	NM_006194.4(PAX9):c.-393-909C>T	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241041	NM_006194.4(PAX9):c.-393-738T>C	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291772	NM_006194.4(PAX9):c.-393-157C>T	LOC108281111, PAX9	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar