ClinVar (all) for Orgtrack (Select 76327) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983500	NM_015015.3(KDM4B):c.288C>T (p.Gly96=)	KDM4B	Single nucleotide variant (synonymous variant)	Syndromic global developmental delay	GLikely pathogenic
Select item 691962	NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter)	PUS1 (Y346* +1 more)	Single nucleotide variant (nonsense)	Myopathy, lactic acidosis, and sideroblastic anemia 1	GPathogenic