C0796099[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21251	NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)	ESCO2 (R293fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 362738	NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)	ESCO2 (Q359P)	Single nucleotide variant (missense variant)	Roberts-SC phocomelia syndrome +3 more	GBenign/Likely benign
Select item 21239	NM_001017420.3(ESCO2):c.1674-2A>G	ESCO2	Single nucleotide variant (splice acceptor variant)	Roberts-SC phocomelia syndrome +1 more	GPathogenic

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