"GeneDx"[submitter] AND "LOC111721705"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60212	GRCh38/hg38 2q22.2-22.3(chr2:141666537-147845662)x1	ACVR2A, ARHGAP15 +57 more	Copy number loss	See cases	GPathogenic
Select item 60214	GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1	GTDC1, LINC01412 +13 more	Copy number loss	See cases	GPathogenic
Select item 424468	NM_014795.4(ZEB2):c.592+7C>G	LOC111721705, ZEB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389320	NM_014795.4(ZEB2):c.564G>A (p.Thr188=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +2 more	GLikely benign

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