"Ambry Genetics"[submitter] AND "EMC4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527991	NM_016454.4(EMC4):c.8C>T (p.Ala3Val)	EMC4 (A3V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254250	NM_016454.4(EMC4):c.203G>A (p.Arg68His)	EMC4 (R68H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275270	NM_016454.4(EMC4):c.387G>C (p.Lys129Asn)	EMC4 (K129N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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