"Ambry Genetics"[submitter] AND "EMC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275264	NM_014673.5(EMC2):c.328T>C (p.Tyr110His)	EMC2 (Y119H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275265	NM_014673.5(EMC2):c.361A>C (p.Thr121Pro)	EMC2 (T122P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088551	NM_014673.5(EMC2):c.400C>G (p.Gln134Glu)	EMC2 (Q143E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275263	NM_014673.5(EMC2):c.500A>G (p.Asn167Ser)	EMC2 (N168S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592752	NM_014673.5(EMC2):c.602C>G (p.Thr201Ser)	EMC2 (T202S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595076	NM_014673.5(EMC2):c.622C>G (p.Leu208Val)	EMC2 (L208V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar