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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 432783	NM_004275.5(MED20):c.253C>T (p.Leu85Phe)	BYSL, MED20 (L85F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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