DNM2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1302859	NC_000019.10:g.10717821dup	DNM2	Duplication	not provided	GBenign
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 2057301	NM_001005361.3(DNM2):c.162-15C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2151037	NM_001005361.3(DNM2):c.162-7dup	DNM2	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GBenign
Select item 2187436	NM_001005361.3(DNM2):c.162-13C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	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 2154294	NM_001005361.3(DNM2):c.162-9C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 512505	NM_001005361.3(DNM2):c.162-9C>G	DNM2	Single nucleotide variant (intron variant)	DNM2-related disorder +2 more	GLikely benign
Select item 327973	NM_001005361.3(DNM2):c.162-9C>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1453775	NM_001005361.3(DNM2):c.162-8C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1128438	NM_001005361.3(DNM2):c.162-8C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 696006	NM_001005361.3(DNM2):c.162-8C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1394101	NM_001005361.3(DNM2):c.162-7C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	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)	Charcot-Marie-Tooth disease dominant intermediate B +3 more	GBenign
Select item 511239	NM_001005361.3(DNM2):c.162-6del	DNM2	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 1941603	NM_001005361.3(DNM2):c.162G>A (p.Arg54=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1002867	NM_001005361.3(DNM2):c.162G>C (p.Arg54=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 133977	NM_001005361.3(DNM2):c.164A>G (p.Asp55Gly)	DNM2 (D55G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3337044	NM_001005361.3(DNM2):c.166T>C (p.Phe56Leu)	DNM2 (F56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089429	NM_001005361.3(DNM2):c.168C>T (p.Phe56=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1489952	NM_001005361.3(DNM2):c.170_192del (p.Leu57fs)	DNM2 (L57fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1089331	NM_001005361.3(DNM2):c.174C>T (p.Pro58=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2885183	NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)	DNM2 (R59C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
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)	Inborn genetic diseases +2 more	GLikely benign
Select item 1928617	NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)	DNM2 (I63V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1587241	NM_001005361.3(DNM2):c.189C>T (p.Ile63=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 133978	NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)	DNM2 (V64I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1713534	NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)	DNM2 (R66W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
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 657523	NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln)	DNM2 (R67Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1348797	NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe)	DNM2 (L69F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2814976	NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)	DNM2 (I70V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 238206	NM_001005361.3(DNM2):c.210T>C (p.Ile70=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1592870	NM_001005361.3(DNM2):c.213G>A (p.Leu71=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 195104	NM_001005361.3(DNM2):c.216G>A (p.Gln72=)	DNM2	Single nucleotide variant (synonymous variant)	DNM2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 743601	NM_001005361.3(DNM2):c.219C>A (p.Leu73=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1472846	NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn)	DNM2 (K77N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1386765	NM_001005361.3(DNM2):c.234A>G (p.Thr78=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1934612	NM_001005361.3(DNM2):c.235+4A>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
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 1159405	NM_001005361.3(DNM2):c.235+9G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 288960	NM_001005361.3(DNM2):c.235+10G>A	DNM2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1619338	NM_001005361.3(DNM2):c.235+12C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2767557	NM_001005361.3(DNM2):c.235+13G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2189279	NM_001005361.3(DNM2):c.235+13G>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1537892	NM_001005361.3(DNM2):c.235+14G>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
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)	Autosomal dominant centronuclear myopathy +4 more	GBenign
Select item 2915344	NM_001005361.3(DNM2):c.236-20C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2186698	NM_001005361.3(DNM2):c.236-18T>C	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1662509	NM_001005361.3(DNM2):c.236-10C>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 256867	NM_001005361.3(DNM2):c.236-8C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GBenign/Likely benign
Select item 137130	NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)	DNM2 (H80Y)	Single nucleotide variant (missense variant)	DNM2-related disorder +5 more	GBenign/Likely benign
Select item 2150150	NM_001005361.3(DNM2):c.243C>G (p.Ala81=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 681571	NM_001005361.3(DNM2):c.243C>T (p.Ala81=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3010858	NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)	DNM2 (E82K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2730313	NM_001005361.3(DNM2):c.246G>A (p.Glu82=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 644774	NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg)	DNM2 (K89R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1144271	NM_001005361.3(DNM2):c.267A>G (p.Lys89=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1986513	NM_001005361.3(DNM2):c.270G>A (p.Lys90=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1950850	NM_001005361.3(DNM2):c.282T>C (p.Phe94=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 580024	NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp)	DNM2 (R98W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	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 1581016	NM_001005361.3(DNM2):c.294G>A (p.Arg98=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2180547	NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)	DNM2 (Q99R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1631546	NM_001005361.3(DNM2):c.297G>A (p.Gln99=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
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 511438	NM_001005361.3(DNM2):c.312G>A (p.Glu104=)	DNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2830664	NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)	DNM2 (T105S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 696756	NM_001005361.3(DNM2):c.315C>T (p.Thr105=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 246522	NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)	DNM2 (D106N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1403421	NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys)	DNM2 (R107K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1984297	NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)	DNM2 (V108L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2055395	NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)	DNM2 (V108G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 701462	NM_001005361.3(DNM2):c.327G>A (p.Thr109=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1421133	NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala)	DNM2 (T111A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1361920	NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser)	DNM2 (T111S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1018062	NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser)	DNM2 (N112S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 579555	NM_001005361.3(DNM2):c.345C>G (p.Ile115Met)	DNM2 (I115M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2086033	NM_001005361.3(DNM2):c.354G>A (p.Val118=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1138993	NM_001005361.3(DNM2):c.360C>T (p.Ile120=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
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 2911884	NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)	DNM2 (R123Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 850641	NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)	DNM2 (S126A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 574489	NM_001005361.3(DNM2):c.384C>T (p.His128=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 2020132	NM_001005361.3(DNM2):c.385G>A (p.Val129Met)	DNM2 (V129M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1060362	NM_001005361.3(DNM2):c.385+6C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1943089	NM_001005361.3(DNM2):c.385+12G>A	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1660160	NM_001005361.3(DNM2):c.385+13G>C	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1589381	NM_001005361.3(DNM2):c.385+14G>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
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 700194	NM_001005361.3(DNM2):c.386-6T>C	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GBenign

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