"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 930821	NM_007289.4(MME):c.594dup (p.Val199fs)	MME (V199fs)	Duplication (frameshift variant)	Spinocerebellar ataxia 43 +1 more	GPathogenic
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 504903	NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	MME (R448*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 931880	NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	MME (G579S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 546951	NM_007289.4(MME):c.1946T>G (p.Ile649Ser)	MME (I649S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar