"OMIM"[submitter] AND "ADAMTSL4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39554	NM_019032.6(ADAMTSL4):c.79-1G>A	ADAMTSL4, ADAMTSL4-AS2	Single nucleotide variant (splice acceptor variant)	Ectopia lentis 2, isolated, autosomal recessive	GPathogenic
Select item 39558	NM_019032.6(ADAMTSL4):c.239del (p.Pro80fs)	ADAMTSL4, ADAMTSL4-AS2 (P80fs)	Deletion (frameshift variant)	Ectopia lentis 2, isolated, autosomal recessive	GPathogenic
Select item 39555	NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)	ADAMTSL4-AS2, ADAMTSL4 (Q256fs)	Deletion	Ectopia lentis +3 more	GPathogenic
Select item 39556	NM_019032.6(ADAMTSL4):c.826_836del (p.Arg276fs)	ADAMTSL4-AS2, ADAMTSL4 (R276fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1349	NM_019032.6(ADAMTSL4):c.1785T>G (p.Tyr595Ter)	ADAMTSL4, ADAMTSL4-AS2 (Y595* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 39557	NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)	ADAMTSL4, ADAMTSL4-AS2 (R670* +2 more)	Single nucleotide variant (nonsense)	Ectopia lentis et pupillae +2 more	GPathogenic/Likely pathogenic
Select item 39559	NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs)	ADAMTSL4 (G719fs +2 more)	Duplication (frameshift variant)	Ectopia lentis et pupillae +2 more	GPathogenic

ClinVar