"Revvity Omics, Revvity"[submitter] AND "DNM2"[gene] - ClinVar

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Items: 62

	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 859273	NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)	DNM2, LOC130063529 (R4C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1054113	NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)	DNM2, LOC130063529 (E7G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440971	NM_001005361.3(DNM2):c.44A>G (p.Lys15Arg)	DNM2, LOC130063529 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288108	NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)	LOC130063529, DNM2 (N50S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440969	NM_001005361.3(DNM2):c.293G>A (p.Arg98Gln)	DNM2 (R98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440974	NM_001005361.3(DNM2):c.304G>A (p.Glu102Lys)	DNM2 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475787	NM_001005361.3(DNM2):c.427G>C (p.Val143Leu)	DNM2 (V143L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812030	NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)	DNM2 (K157N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2111633	NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)	DNM2 (L189M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440968	NM_001005361.3(DNM2):c.577G>T (p.Val193Phe)	DNM2 (V193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440964	NM_001005361.3(DNM2):c.634G>A (p.Glu212Lys)	DNM2 (E212K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466536	NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser)	DNM2 (P226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 411951	NM_001005361.3(DNM2):c.699C>T (p.Gly233=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1991202	NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)	DNM2 (I248V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440967	NM_001005361.3(DNM2):c.757G>T (p.Ala253Ser)	DNM2 (A253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195531	NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)	DNM2 (L260I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 246310	NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)	DNM2 (T280M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 133980	NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp)	DNM2 (R290W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 327977	NM_001005361.3(DNM2):c.890G>A (p.Arg297His)	DNM2 (R297H)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +2 more	GConflicting classifications of pathogenicity
Select item 411953	NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys)	DNM2 (E312K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 158529	NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)	DNM2 (D320N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 426423	NM_001005361.3(DNM2):c.1004A>T (p.Gln335Leu)	DNM2 (Q335L)	Single nucleotide variant (missense variant)	not provided	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 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 7279	NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)	DNM2 (R369Q)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 2440958	NM_001005361.3(DNM2):c.1116T>A (p.Phe372Leu)	DNM2 (F372L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702745	NM_001005361.3(DNM2):c.1196+677G>A	DNM2 (V418I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1485513	NM_001005361.3(DNM2):c.1196+704T>C	DNM2 (C427R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 641192	NM_001005361.3(DNM2):c.1196+747A>G	DNM2 (Q441R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 645458	NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)	DNM2 (R453Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 447271	NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)	DNM2 (E457G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327980	NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)	DNM2 (T462A)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +4 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 890989	NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)	DNM2 (R467Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 374611	NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)	DNM2 (I486V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 2688962	NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 515852	NM_001005361.3(DNM2):c.1546-18A>C	DNM2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158514	NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	DNM2 (R522H +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 585792	NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)	DNM2 (S549T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2440961	NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)	DNM2 (K567R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 327983	NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)	DNM2 (T591M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 449326	NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	DNM2 (A618T +1 more)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 452408	NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys)	DNM2 (E635K +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 957879	NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)	DNM2 (D632G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133981	NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr)	DNM2 (A638T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 2440962	NM_001005361.3(DNM2):c.1925C>A (p.Thr642Asn)	DNM2 (T638N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 575348	NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)	DNM2 (S702L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 941855	NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)	DNM2 (M721V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1472768	NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)	DNM2 (Y722H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 447273	NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)	DNM2 (N734S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 465284	NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)	DNM2 (V744A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1370640	NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe)	DNM2 (L753F +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 847325	NM_001005361.3(DNM2):c.2291+5G>A	DNM2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1418857	NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser)	DNM2 (P787S +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 1348984	NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp)	DNM2 (R808W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 2143909	NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)	DNM2 (N817S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 657927	NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del)	DNM2 (T858del +2 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 234609	NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del)	DNM2	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 2440972	NM_001005361.3(DNM2):c.2588dup (p.Ala864fs)	DNM2 (A860fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 940779	NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)	DNM2 (L865P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440960	NM_001005361.3(DNM2):c.2610C>G (p.Asp870Glu)	DNM2 (D866E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 62