"GeneDx"[submitter] AND "THAP11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 1261698	NC_000016.10:g.67842118G>A	CENPT, THAP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234484	NM_020457.3(THAP11):c.-105G>A	LOC130059242, THAP11 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 769902	NM_020457.3(THAP11):c.367CAG[9] (p.Gln132del)	CENPT, THAP11 (Q132del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign

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