"GeneDx"[submitter] AND "DNM2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 1302859	NC_000019.10:g.10717821dup	DNM2	Duplication	not provided	GBenign
Select item 422584	NM_001005361.3(DNM2):c.-48_-47delinsTTGAGGGTCGCCCG	DNM2, LOC130063529	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 835727	NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)	DNM2, LOC130063529 (G2D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 2500365	NM_001005361.3(DNM2):c.32C>T (p.Pro11Leu)	DNM2, LOC130063529 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 215776	NM_001005361.3(DNM2):c.90C>T (p.Asp30=)	LOC130063529, DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 391529	NM_001005361.3(DNM2):c.102C>A (p.Ile34=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 3372033	NM_001005361.3(DNM2):c.127G>C (p.Gly43Arg)	DNM2, LOC130063529 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489196	NM_001005361.3(DNM2):c.142C>T (p.Leu48=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3375718	NM_001005361.3(DNM2):c.159C>T (p.Gly53=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 676285	NM_001005361.3(DNM2):c.161+122C>A	DNM2, LOC130063529	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260607	NM_001005361.3(DNM2):c.161+228C>G	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678428	NM_001005361.3(DNM2):c.161+248G>C	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511947	NM_001005361.3(DNM2):c.162-16T>C	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 389358	NM_001005361.3(DNM2):c.162-12C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512505	NM_001005361.3(DNM2):c.162-9C>G	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509358	NM_001005361.3(DNM2):c.162-7C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 195103	NM_001005361.3(DNM2):c.162-7C>A	DNM2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 511239	NM_001005361.3(DNM2):c.162-6del	DNM2	Deletion (intron variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 381034	NM_001005361.3(DNM2):c.183A>G (p.Ser61=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 133978	NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)	DNM2 (V64I)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 158525	NM_001005361.3(DNM2):c.235+6A>G	DNM2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 682217	NM_001005361.3(DNM2):c.235+12C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 158524	NM_001005361.3(DNM2):c.235+12C>A	DNM2	Single nucleotide variant (intron variant)	Centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 1177866	NM_001005361.3(DNM2):c.235+240dup	DNM2	Duplication (intron variant)	not provided	GBenign
Select item 256866	NM_001005361.3(DNM2):c.236-29C>G	DNM2	Single nucleotide variant (intron variant)	Fetal akinesia-cerebral and retinal hemorrhage syndrome +4 more	GBenign
Select item 256867	NM_001005361.3(DNM2):c.236-8C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GBenign/Likely benign
Select item 681571	NM_001005361.3(DNM2):c.243C>T (p.Ala81=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 511438	NM_001005361.3(DNM2):c.312G>A (p.Glu104=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 696756	NM_001005361.3(DNM2):c.315C>T (p.Thr105=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 679320	NM_001005361.3(DNM2):c.385+60A>G	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679310	NM_001005361.3(DNM2):c.386-173G>T	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387548	NM_001005361.3(DNM2):c.386-6T>A	DNM2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1314061	NM_001005361.3(DNM2):c.386-5C>G	DNM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 507156	NM_001005361.3(DNM2):c.402C>T (p.Leu134=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 327974	NM_001005361.3(DNM2):c.450A>G (p.Pro150=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 388639	NM_001005361.3(DNM2):c.471G>A (p.Lys157=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 465290	NM_001005361.3(DNM2):c.480C>T (p.Ile160=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 949286	NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)	DNM2 (R166W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 256869	NM_001005361.3(DNM2):c.519T>C (p.Ala173=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 219703	NM_001005361.3(DNM2):c.555C>T (p.Asp185=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 386036	NM_001005361.3(DNM2):c.589+17G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GBenign/Likely benign
Select item 1191421	NM_001005361.3(DNM2):c.589+86G>A	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218459	NM_001005361.3(DNM2):c.589+132T>C	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211928	NM_001005361.3(DNM2):c.589+139T>C	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186815	NM_001005361.3(DNM2):c.589+159C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209508	NM_001005361.3(DNM2):c.589+274C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209290	NM_001005361.3(DNM2):c.589+274C>G	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678706	NM_001005361.3(DNM2):c.590-168T>C	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210855	NM_001005361.3(DNM2):c.590-31CCTCTGA[3]	DNM2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 327976	NM_001005361.3(DNM2):c.633C>T (p.Asp211=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GConflicting classifications of pathogenicity
Select item 416987	NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)	DNM2 (D215N)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 498594	NM_001005361.3(DNM2):c.645C>T (p.Asp215=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1151351	NM_001005361.3(DNM2):c.654C>T (p.Asp218=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 512773	NM_001005361.3(DNM2):c.666C>T (p.Asn222=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 423594	NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu)	DNM2 (P226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 510609	NM_001005361.3(DNM2):c.688+15del	DNM2	Deletion (intron variant)	not specified	GLikely benign
Select item 1220400	NM_001005361.3(DNM2):c.689-103C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 488952	NM_001005361.3(DNM2):c.736A>T (p.Lys246Ter)	DNM2 (K246*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364432	NM_001005361.3(DNM2):c.782C>T (p.Ser261Phe)	DNM2 (S261F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133979	NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)	DNM2 (P263L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +2 more	GBenign
Select item 287974	NM_001005361.3(DNM2):c.789G>A (p.Pro263=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1304063	NM_001005361.3(DNM2):c.794A>G (p.Tyr265Cys)	DNM2 (Y265C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888711	NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)	DNM2 (D270N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 158528	NM_001005361.3(DNM2):c.822G>A (p.Thr274=)	DNM2	Single nucleotide variant (synonymous variant)	Centronuclear myopathy +4 more	GConflicting classifications of pathogenicity
Select item 507135	NM_001005361.3(DNM2):c.831G>A (p.Leu277=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1183137	NM_001005361.3(DNM2):c.850-53C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512271	NM_001005361.3(DNM2):c.858C>G (p.Thr286=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 816534	NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)	DNM2 (R290Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447275	NM_001005361.3(DNM2):c.876G>A (p.Ser292=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 256870	NM_001005361.3(DNM2):c.882G>A (p.Pro294=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 246588	NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln)	DNM2 (R318Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312871	NM_001005361.3(DNM2):c.956C>T (p.Pro319Leu)	DNM2 (P319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510490	NM_001005361.3(DNM2):c.957C>T (p.Pro319=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
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 246079	NM_001005361.3(DNM2):c.992A>G (p.Gln331Arg)	DNM2 (Q331R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513966	NM_001005361.3(DNM2):c.992+11C>T	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679311	NM_001005361.3(DNM2):c.992+231G>A	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386173	NM_001005361.3(DNM2):c.993-14C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
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 2571957	NM_001005361.3(DNM2):c.1020T>G (p.Phe340Leu)	DNM2 (F340L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512066	NM_001005361.3(DNM2):c.1032C>T (p.Ile344=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 234708	NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)	DNM2 (V351M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 418164	NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)	DNM2 (S357F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 512080	NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 7287	NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	DNM2 (G358R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GPathogenic/Likely pathogenic
Select item 137131	NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GBenign
Select item 1804621	NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)	DNM2 (R364L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
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 245905	NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu)	DNM2 (R369L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 518095	NM_001005361.3(DNM2):c.1128+13G>A	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679312	NM_001005361.3(DNM2):c.1128+158G>C	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679314	NM_001005361.3(DNM2):c.1128+169T>C	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214676	NM_001005361.3(DNM2):c.1128+241A>G	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203196	NM_001005361.3(DNM2):c.1196+158A>C	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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