"GeneDx"[submitter] AND "COL16A1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 1288039	NM_001856.4(COL16A1):c.185C>A (p.Thr62Lys)	COL16A1 (T62K)	Single nucleotide variant (missense variant)	not provided	GBenign

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