"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MME"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220354	NM_007289.4(MME):c.68G>A (p.Arg23Gln)	MME (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682847	NM_007289.4(MME):c.378A>T (p.Lys126Asn)	MME (K126N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426945	NM_007289.4(MME):c.467del (p.Pro156fs)	MME (P156fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2T +3 more	GPathogenic/Likely pathogenic
Select item 451188	NM_007289.4(MME):c.877C>T (p.Arg293Ter)	MME (R293*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 809558	NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	MME (Y347C)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 426487	NM_007289.4(MME):c.1946T>C (p.Ile649Thr)	MME (I649T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525554	NM_007289.4(MME):c.2141C>T (p.Pro714Leu)	MME (P714L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar