"GeneDx"[submitter] AND "KLHL38"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 1245653	NM_001081675.3(KLHL38):c.1180G>C (p.Gly394Arg)	KLHL38 (G394R)	Single nucleotide variant (missense variant)	not provided	GBenign

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