"GeneDx"[submitter] AND "MYEF2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 817885	NM_205850.3(SLC24A5):c.493del (p.Ser165fs)	MYEF2, SLC24A5 (S165fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 372809	NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg)	MYEF2, SLC24A5 (S182R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 727005	NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly)	MYEF2, SLC24A5 (W308G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1310860	NM_205850.3(SLC24A5):c.967C>T (p.Pro323Ser)	MYEF2, SLC24A5 (P323S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312028	NM_205850.3(SLC24A5):c.1103C>T (p.Thr368Ile)	MYEF2, SLC24A5 (T368I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 452948	NM_205850.3(SLC24A5):c.1361T>A (p.Leu454Ter)	MYEF2, SLC24A5 (L454*)	Single nucleotide variant (nonsense +1 more)	not provided	GConflicting classifications of pathogenicity

ClinVar