"GeneDx"[submitter] AND "LOC130009416"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 3368754	NM_001260.3(CDK8):c.79G>C (p.Val27Leu)	CDK8, LOC130009416 (V27L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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