"Revvity Omics, Revvity"[submitter] AND "CHD4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439985	NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)	CHD4 (E1813D +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439989	NM_001273.5(CHD4):c.4883_4884del (p.Glu1628fs)	CHD4 (E1615fs +2 more)	Microsatellite (frameshift variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439988	NM_001273.5(CHD4):c.4810G>A (p.Asp1604Asn)	CHD4 (D1591N +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439987	NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)	CHD4 (R1367C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439063	NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)	CHD4 (V1006G +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GConflicting classifications of pathogenicity
Select item 1324066	NM_001273.5(CHD4):c.2313+2T>C	CHD4	Single nucleotide variant (splice donor variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 2439986	NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)	CHD4 (R102C +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GUncertain significance

ClinVar