ClinVar (all) for Orgtrack (Select 505839) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267357	NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	EBF3 (K193E)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely pathogenic
Select item 265791	NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)	TOP2B (H58Y +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic