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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374046	NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu)	DNM2 (F317L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 7282	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2 (E368K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 246295	NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)	DNM2 (G537S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GPathogenic/Likely pathogenic
Select item 657486	NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser)	DNM2 (A614S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 931135	NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)	DNM2 (E646K +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GLikely pathogenic FDA Recognized database
Select item 930350	NM_001005361.3(DNM2):c.2292-8C>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 930433	NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)	DNM2 (L793del +1 more)	Deletion (inframe_deletion)	Autosomal dominant centronuclear myopathy	GUncertain significance

ClinVar