"GeneDx"[submitter] AND "TONSL-AS1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 58435	GRCh38/hg38 8q24.3(chr8:144392063-144458958)x3	MIR6893, MIR939 +17 more	Copy number gain	See cases	GUncertain significance
Select item 982207	NM_013432.5(TONSL):c.1958C>T (p.Thr653Met)	TONSL, TONSL-AS1 (T653M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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