"GeneDx"[submitter] AND "ARL14EP-DT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 1220841	NM_001382289.1(FSHB):c.-37-224T>G	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271122	NM_001382289.1(FSHB):c.-37-95A>T	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243392	NM_001382289.1(FSHB):c.159+33T>C	ARL14EP-DT, FSHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257061	NM_001382289.1(FSHB):c.228C>T (p.Tyr76=)	ARL14EP-DT, FSHB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 16240	NM_001382289.1(FSHB):c.236_237del (p.Val79fs)	ARL14EP-DT, FSHB (V79fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar