"GeneDx"[submitter] AND "SPDL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1227153	NM_017785.5(SPDL1):c.1522T>C (p.Tyr508His)	SPDL1 (Y437H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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