"GeneDx"[submitter] AND "LOC130061867"[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 1181681	NM_001159773.2(CANT1):c.-147+53A>G	CANT1, LOC130061867	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325721	NM_001159773.2(CANT1):c.-239A>G	CANT1, LOC130061867	Single nucleotide variant (5 prime UTR variant)	Desbuquois dysplasia 1 +1 more	GBenign

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