"University of Washington Center for Mendelian Genomics, University of - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996740	NM_001127392.3(MYRF):c.239dup (p.Gly81fs)	MYRF (G72fs +1 more)	Duplication (frameshift variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996606	NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser)	MYRF (F378S +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +1 more	GLikely pathogenic
Select item 996607	NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)	MYRF (Q394H +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 619228	NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)	MYRF (G435R +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +3 more	GPathogenic/Likely pathogenic
Select item 996608	NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)	MYRF (L470V +1 more)	Single nucleotide variant (missense variant)	Heart, malformation of +1 more	GLikely pathogenic
Select item 977137	NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter)	MYRF (Q587* +1 more)	Single nucleotide variant (nonsense)	Dextrocardia	GLikely pathogenic
Select item 996605	NM_001127392.3(MYRF):c.1904-1G>A	MYRF	Single nucleotide variant (splice acceptor variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996604	NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)	MYRF (V670A +1 more)	Single nucleotide variant (missense variant)	MYRF-related condition	GLikely pathogenic
Select item 619229	NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)	MYRF (R695H +1 more)	Single nucleotide variant (missense variant)	Cardiac-urogenital syndrome	GUncertain significance