C5676984[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582553	NM_015557.3(CHD5):c.4319G>T (p.Gly1440Val)	CHD5 (G1440V)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 2441727	NM_015557.3(CHD5):c.146A>C (p.Lys49Thr)	CHD5 (K49T)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance