"3billion"[submitter] AND "MYRF"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687467	NM_001127392.3(MYRF):c.789del (p.Ser264fs)	MYRF (S255fs +1 more)	Deletion (frameshift variant)	Cardiac-urogenital syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687379	NM_001127392.3(MYRF):c.965G>A (p.Trp322Ter)	MYRF (W313* +1 more)	Single nucleotide variant (nonsense)	Cardiac-urogenital syndrome	GLikely pathogenic