"GeneDx"[submitter] AND "LOC130062062"[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 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 1252457	NM_005993.5(TBCD):c.184+25G>C	LOC130062062, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign

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