C5676984[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585658	NM_015557.3(CHD5):c.4615T>C (p.Ser1539Pro)	CHD5 (S1539P)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 1228258	NM_015557.3(CHD5):c.2493T>C (p.Ile831=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome +1 more	GBenign
Select item 1287396	NM_015557.3(CHD5):c.2437-18T>C	CHD5	Single nucleotide variant (intron variant)	Parenti-mignot neurodevelopmental syndrome +1 more	GBenign
Select item 2585659	NM_015557.3(CHD5):c.1104A>G (p.Val368=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585660	NM_015557.3(CHD5):c.903C>T (p.Phe301=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign
Select item 2585661	NM_015557.3(CHD5):c.429G>C (p.Leu143=)	CHD5	Single nucleotide variant (synonymous variant)	Parenti-mignot neurodevelopmental syndrome	GBenign

ClinVar