"GeneDx"[submitter] AND "LOC130006547"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 1219849	NC_000011.10:g.85628257G>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 671602	NM_018480.4(TMEM126B):c.-308C>T	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 684192	NM_018480.4(TMEM126B):c.-272T>A	DLG2, LOC130006547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar