"Baylor Genetics"[submitter] AND "MYRF"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027689	NM_001127392.3(MYRF):c.463C>T (p.Pro155Ser)	MYRF (P146S +1 more)	Single nucleotide variant (missense variant)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization	GUncertain significance
Select item 2441854	NM_001127392.3(MYRF):c.1515G>T (p.Val505=)	MYRF	Single nucleotide variant (synonymous variant)	Cardiac-urogenital syndrome	GUncertain significance
Select item 2441925	NM_001127392.3(MYRF):c.1543C>T (p.Gln515Ter)	MYRF (Q506* +1 more)	Single nucleotide variant (nonsense)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization +1 more	GPathogenic
Select item 2582568	NM_001127392.3(MYRF):c.2072A>T (p.Asn691Ile)	MYRF (N682I +1 more)	Single nucleotide variant (missense variant)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization +1 more	GUncertain significance
Select item 2441779	NM_001127392.3(MYRF):c.2416G>A (p.Val806Met)	MYRF (V806M)	Single nucleotide variant (missense variant +1 more)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization +1 more	GUncertain significance
Select item 2442165	NM_001127392.3(MYRF):c.3301-13C>T	MYRF	Single nucleotide variant (intron variant)	Encephalitis/encephalopathy, mild, with reversible myelin vacuolization +1 more	GUncertain significance

ClinVar