"Ambry Genetics"[submitter] AND "DNM2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 644304	NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser)	DNM2, LOC130063529 (P11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 465289	NM_001005361.3(DNM2):c.33G>A (p.Pro11=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 1732046	NM_001005361.3(DNM2):c.34C>G (p.Leu12Val)	DNM2, LOC130063529 (L12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 533837	NM_001005361.3(DNM2):c.81C>T (p.Cys27=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 533830	NM_001005361.3(DNM2):c.83A>T (p.His28Leu)	DNM2, LOC130063529 (H28L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	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 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 533833	NM_001005361.3(DNM2):c.177C>A (p.Arg59=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 465282	NM_001005361.3(DNM2):c.177C>T (p.Arg59=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
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 238206	NM_001005361.3(DNM2):c.210T>C (p.Ile70=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GConflicting classifications of pathogenicity
Select item 195104	NM_001005361.3(DNM2):c.216G>A (p.Gln72=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137130	NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)	DNM2 (H80Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GBenign/Likely 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 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 2605711	NM_001005361.3(DNM2):c.361A>C (p.Asn121His)	DNM2 (N121H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1736605	NM_001005361.3(DNM2):c.396G>C (p.Leu132Phe)	DNM2 (L132F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 664504	NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)	DNM2 (R166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 327975	NM_001005361.3(DNM2):c.528C>T (p.Pro176=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1746677	NM_001005361.3(DNM2):c.529G>A (p.Ala177Thr)	DNM2 (A177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 581147	NM_001005361.3(DNM2):c.535A>G (p.Met179Val)	DNM2 (M179V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 575183	NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln)	DNM2 (R199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 649298	NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys)	DNM2 (G213C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 850543	NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)	DNM2 (A216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 416985	NM_001005361.3(DNM2):c.648C>T (p.Ala216=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 1756281	NM_001005361.3(DNM2):c.694A>G (p.Ile232Val)	DNM2 (I232V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 465293	NM_001005361.3(DNM2):c.700G>C (p.Val234Leu)	DNM2 (V234L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 533839	NM_001005361.3(DNM2):c.750A>G (p.Ala250=)	DNM2	Single nucleotide variant (synonymous variant)	Autosomal dominant centronuclear myopathy +2 more	GLikely benign
Select item 647684	NM_001005361.3(DNM2):c.758C>T (p.Ala253Val)	DNM2 (A253V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2528243	NM_001005361.3(DNM2):c.778C>T (p.Leu260Phe)	DNM2 (L260F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 649672	NM_001005361.3(DNM2):c.778C>G (p.Leu260Val)	DNM2 (L260V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GUncertain significance
Select item 1761034	NM_001005361.3(DNM2):c.788C>A (p.Pro263Gln)	DNM2 (P263Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1761724	NM_001005361.3(DNM2):c.802A>G (p.Met268Val)	DNM2 (M268V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	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 3273224	NM_001005361.3(DNM2):c.835A>C (p.Lys279Gln)	DNM2 (K279Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273225	NM_001005361.3(DNM2):c.837G>T (p.Lys279Asn)	DNM2 (K279N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3084771	NM_001005361.3(DNM2):c.871G>C (p.Glu291Gln)	DNM2 (E291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2517301	NM_001005361.3(DNM2):c.943A>C (p.Lys315Gln)	DNM2 (K315Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517302	NM_001005361.3(DNM2):c.945G>T (p.Lys315Asn)	DNM2 (K315N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3084772	NM_001005361.3(DNM2):c.968C>A (p.Thr323Asn)	DNM2 (T323N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1043275	NM_001005361.3(DNM2):c.1091G>A (p.Arg364His)	DNM2 (R364H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 533843	NM_001005361.3(DNM2):c.1095C>A (p.Ile365=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 533836	NM_001005361.3(DNM2):c.1101C>T (p.His367=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 1490793	NM_001005361.3(DNM2):c.1128+5T>G	DNM2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1735437	NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)	DNM2 (R386W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 465279	NM_001005361.3(DNM2):c.1196+643C>T	DNM2	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GBenign/Likely benign
Select item 2614716	NM_001005361.3(DNM2):c.1196+670G>C	DNM2 (K415N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 998817	NM_001005361.3(DNM2):c.1196+680A>G	DNM2 (K419E)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 245878	NM_001005361.3(DNM2):c.1196+698C>A	DNM2 (L425M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 890417	NM_001005361.3(DNM2):c.1196+710G>A	DNM2 (D429N)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant centronuclear myopathy +3 more	GConflicting classifications of pathogenicity
Select item 835082	NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)	DNM2 (R451W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 652220	NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly)	DNM2 (R458G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 1771133	NM_001005361.3(DNM2):c.1375A>T (p.Ile459Phe)	DNM2 (I459F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 416986	NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 855913	NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)	DNM2 (V460I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1771603	NM_001005361.3(DNM2):c.1394G>A (p.Arg465Gln)	DNM2 (R465Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 510728	NM_001005361.3(DNM2):c.1437C>T (p.Ile479=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 386733	NM_001005361.3(DNM2):c.1449G>A (p.Gln483=)	DNM2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1773197	NM_001005361.3(DNM2):c.1463C>A (p.Thr488Lys)	DNM2 (T488K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888784	NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)	DNM2 (T504M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 533838	NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)	DNM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 391434	NM_001005361.3(DNM2):c.1518G>C (p.Leu506=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 3084769	NM_001005361.3(DNM2):c.1531G>A (p.Ala511Thr)	DNM2 (A511T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3084770	NM_001005361.3(DNM2):c.1546-4A>C	DNM2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1774999	NM_001005361.3(DNM2):c.1549G>A (p.Glu517Lys)	DNM2 (E517K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1093753	NM_001005361.3(DNM2):c.1558-5C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 391188	NM_001005361.3(DNM2):c.1584C>T (p.Ile528=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign

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