"Revvity Omics, Revvity"[submitter] AND "MME"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441453	NM_007289.4(MME):c.160+1G>A	MME	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 431858	NM_007289.4(MME):c.440-2A>C	MME	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth disease axonal type 2T +1 more	GPathogenic/Likely pathogenic
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 2441451	NM_007289.4(MME):c.667C>T (p.Arg223Ter)	MME (R223*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1308058	NM_007289.4(MME):c.860C>T (p.Thr287Met)	MME (T287M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441448	NM_007289.4(MME):c.988del (p.Ile330fs)	MME (I330fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433763	NM_007289.4(MME):c.1033G>C (p.Val345Leu)	MME (V345L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433764	NM_007289.4(MME):c.1526A>G (p.Glu509Gly)	MME (E509G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633665	NM_007289.4(MME):c.1590G>A (p.Val530=)	MME	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity