C1855705[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190385	NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter)	CENPF (E582*)	Single nucleotide variant (nonsense)	Stromme syndrome +1 more	GPathogenic
Select item 372665	NM_016343.4(CENPF):c.2186C>T (p.Thr729Ile)	CENPF (T729I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 591653	NM_016343.4(CENPF):c.4477_4478inv (p.Ser1493Asp)	CENPF (S1493D)	Inversion (missense variant)	Stromme syndrome	GUncertain significance
Select item 190387	NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)	CENPF (R2898*)	Single nucleotide variant (nonsense)	Stromme syndrome	GPathogenic
Select item 931208	NM_016343.4(CENPF):c.8818G>C (p.Glu2940Gln)	CENPF (E2940Q)	Single nucleotide variant (missense variant)	Stromme syndrome +1 more	GUncertain significance
Select item 785946	NM_016343.4(CENPF):c.9081C>T (p.Leu3027=)	CENPF	Single nucleotide variant (synonymous variant)	Stromme syndrome +1 more	GBenign/Likely benign

ClinVar