"COMP-related disorders"[Disease/phenotype] AND "Illumina Laboratory S - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 890687	NM_000095.3(COMP):c.2272T>C (p.Ter758Gln)	COMP	Single nucleotide variant (stop lost)	COMP-related disorders	GUncertain significance
Select item 891939	NM_000095.3(COMP):c.2014C>T (p.Arg672Ter)	COMP (R672*)	Single nucleotide variant (nonsense)	COMP-related disorders +1 more	GUncertain significance
Select item 891983	NM_000095.3(COMP):c.876C>A (p.Cys292Ter)	COMP (C292*)	Single nucleotide variant (nonsense)	COMP-related disorders	GUncertain significance

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