"GeneDx"[submitter] AND "LOC130067340"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 1234678	NC_000022.11:g.37051627_37051642dup	KCTD17, LOC130067340	Duplication	not provided	GBenign
Select item 1168447	NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)	KCTD17, LOC130067340 (A26T +1 more)	Single nucleotide variant (missense variant)	KCTD17-related condition +2 more	GBenign

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