C1644196[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4, ADAMTSL4-AS2 (Q256fs)	Deletion	not provided +3 more	GPathogenic
Select item 1457756	NM_019032.6(ADAMTSL4):c.2237G>A (p.Arg746His)	ADAMTSL4 (R707H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 381746	NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)	ADAMTSL4 (R865H +2 more)	Single nucleotide variant (missense variant)	Ectopia lentis 2, isolated, autosomal recessive +2 more	GPathogenic/Likely pathogenic

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