"GeneDx"[submitter] AND "DHX38"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1167323	NM_014003.4(DHX38):c.69T>C (p.Gly23=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign
Select item 1167324	NM_014003.4(DHX38):c.147C>G (p.Leu49=)	DHX38	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 84 +2 more	GBenign
Select item 1170141	NM_014003.4(DHX38):c.2380-20T>C	DHX38	Single nucleotide variant (intron variant)	Retinitis pigmentosa 84 +1 more	GBenign

ClinVar