"Ambry Genetics"[submitter] AND "LOC130057016"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155550	NM_016132.5(MYEF2):c.149A>G (p.Asn50Ser)	LOC130057016, MYEF2 (N50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214557	NM_016132.5(MYEF2):c.106G>C (p.Ala36Pro)	LOC130057016, MYEF2 (A36P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155520	NM_016132.5(MYEF2):c.104C>A (p.Pro35His)	LOC130057016, MYEF2 (P35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537631	NM_016132.5(MYEF2):c.73C>A (p.Pro25Thr)	LOC130057016, MYEF2 (P25T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155576	NM_016132.5(MYEF2):c.57C>G (p.His19Gln)	LOC130057016, MYEF2 (H19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594095	NM_016132.5(MYEF2):c.28C>T (p.Pro10Ser)	LOC130057016, MYEF2 (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539270	NM_016132.5(MYEF2):c.22G>A (p.Glu8Lys)	LOC130057016, MYEF2 (E8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar