"GeneDx"[submitter] AND "LOC126862663"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 151581	GRCh38/hg38 17q25.3(chr17:80328106-80955527)x1	ENDOV, LOC101928855 +31 more	Copy number loss	See cases	GUncertain significance
Select item 2575830	NM_001256071.3(RNF213):c.12527A>G (p.Asn4176Ser)	LOC126862663, RNF213 +1 more (N4176S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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