"Inherited Neuropathy Consortium"[submitter] AND "DNM2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7280	NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)	DNM2 (R369W)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
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 637071	NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del)	DNM2 (K559del +1 more)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637073	NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del)	DNM2 (K558del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +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 637072	NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr)	DNM2 (M580T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GPathogenic