"GeneDx"[submitter] AND "REEP6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 430490	NM_138393.4(REEP6):c.469G>A (p.Asp157Asn)	REEP6 (D157N)	Single nucleotide variant (missense variant)	REEP6-related disorder +1 more	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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