"Blueprint Genetics"[submitter] AND "ADAMTSL2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224343	NM_014694.4(ADAMTSL2):c.476G>A (p.Arg159Gln)	ADAMTSL2 (R159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224341	NM_014694.4(ADAMTSL2):c.494C>T (p.Ala165Val)	ADAMTSL2 (A165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224440	NM_014694.4(ADAMTSL2):c.538del (p.Cys180fs)	ADAMTSL2 (C180fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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