C1847902[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424401	NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)	DNM2, LOC130063529 (N3S)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 562194	NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln)	DNM2 (R66Q)	Single nucleotide variant (missense variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +2 more	GUncertain significance
Select item 246522	NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)	DNM2 (D106N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 641231	NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn)	DNM2 (D147N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 656321	NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr)	DNM2 (I232T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 533827	NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys)	DNM2 (R297C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 7281	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	DNM2 (R465W)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 846839	NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)	DNM2 (D717N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327987	NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)	DNM2 (H727Y +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 804754	NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)	DNM2 (T746M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2143123	NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)	DNM2 (R769H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 1467741	NM_001005361.3(DNM2):c.2328C>G (p.His776Gln)	DNM2 (H776Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 465286	NM_001005361.3(DNM2):c.2452G>A (p.Val818Met)	DNM2 (V818M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity