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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434003	NM_001127392.3(MYRF):c.277C>T (p.Pro93Ser)	MYRF (P84S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434001	NM_001127392.3(MYRF):c.800A>G (p.Asn267Ser)	MYRF (N258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324772	NM_001127392.3(MYRF):c.1912_1913dup (p.Gln639fs)	MYRF (Q630fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2434002	NM_001127392.3(MYRF):c.2155G>T (p.Gly719Cys)	MYRF (G710C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324773	NM_001127392.3(MYRF):c.2248-2A>C	MYRF	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2689520	NM_001127392.3(MYRF):c.2735C>T (p.Pro912Leu)	MYRF (P877L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434000	NM_001127392.3(MYRF):c.2908G>A (p.Gly970Ser)	MYRF (G935S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433999	NM_001127392.3(MYRF):c.3305C>T (p.Thr1102Ile)	MYRF (T1062I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar