C5231483[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2391229	NM_003587.5(DHX16):c.2867G>A (p.Arg956Gln)	DHX16 (R475Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2349296	NM_003587.5(DHX16):c.2818C>T (p.Arg940Cys)	DHX16 (R459C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2440765	NM_003587.5(DHX16):c.2789G>A (p.Ser930Asn)	DHX16 (S449N +2 more)	Single nucleotide variant (missense variant)	Neuromuscular disease and ocular or auditory anomalies with or without seizures	GUncertain significance
Select item 2440762	NM_003587.5(DHX16):c.1138C>T (p.Pro380Ser)	DHX16 (P320S +1 more)	Single nucleotide variant (missense variant +1 more)	Neuromuscular disease and ocular or auditory anomalies with or without seizures	GUncertain significance
Select item 2440764	NM_003587.5(DHX16):c.1126-3T>C	DHX16	Single nucleotide variant (intron variant)	Neuromuscular disease and ocular or auditory anomalies with or without seizures	GUncertain significance
Select item 2440766	NM_003587.5(DHX16):c.447-1G>A	DHX16	Single nucleotide variant (splice acceptor variant)	Neuromuscular disease and ocular or auditory anomalies with or without seizures	GUncertain significance

ClinVar