C1847902[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7287	NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	DNM2 (G358R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7282	NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	DNM2 (E368K)	Single nucleotide variant (missense variant)	DNM2-related condition +5 more	GPathogenic
Select item 7280	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	DNM2 (R369W)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +3 more	GPathogenic
Select item 7279	NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	DNM2 (R369Q)	Single nucleotide variant (missense variant)	Centronuclear myopathy +3 more	GPathogenic
Select item 60688	NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val)	DNM2 (F379V)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +1 more	GConflicting classifications of pathogenicity
Select item 7281	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	DNM2 (R465W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 7283	NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)	DNM2 (G533C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 568603	NM_001005361.3(DNM2):c.1664_1671+1del	DNM2	Deletion (splice donor variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 637073	NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)	DNM2 (K558del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 7277	NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu)	DNM2 (K558E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 7284	NM_001005361.3(DNM2):c.1709T>A (p.Leu570His)	DNM2 (L566H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +2 more	GConflicting classifications of pathogenicity
Select item 7286	NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp)	DNM2 (S619W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7285	NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	DNM2 (S619L +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +3 more	GPathogenic/Likely pathogenic