"GeneDx"[submitter] AND "GSX2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 1228986	NC_000004.12:g.54099937G>A	GSX2	Single nucleotide variant	not provided	GBenign
Select item 1182813	NM_133267.3(GSX2):c.156C>T (p.Ser52=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1223318	NM_133267.3(GSX2):c.408T>C (p.His136=)	GSX2	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 2 +1 more	GBenign
Select item 1252242	NM_133267.3(GSX2):c.574+129C>T	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241231	NM_133267.3(GSX2):c.575-119A>T	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255326	NM_133267.3(GSX2):c.575-40C>A	GSX2	Single nucleotide variant (intron variant)	not provided	GBenign