MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Charcot-Marie-Tooth Disease (D002607)
..Starting node
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)

       Child Nodes:



 Sister Nodes: 
..expandCharcot Marie Tooth type 1 aplasia cutis congenita (C538077)
..expandCharcot-Marie-Tooth disease and deafness (C538078)
..expandCharcot-Marie-Tooth disease with ptosis and parkinsonism (C538079)
..expandCharcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k (C564325)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
..expandCharcot-Marie-Tooth Disease, Axonal, Type 2a1 (C566138)
..expandCharcot-Marie-Tooth Disease, Axonal, Type 2A2 (C563757)  LSDB  L: 00488;
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
..expandCharcot-Marie-Tooth Disease, Axonal, Type 2n (C567653)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S (OMIM:616155)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y (OMIM:616687)
..expandCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z (OMIM:616688)
..expandCharcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..expandCHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
..expandCharcot-Marie-Tooth disease, dominant intermediate 1 (C535399)
..expandCharcot-Marie-Tooth disease, dominant intermediate 2 (C535400)
..expandCharcot-Marie-Tooth disease, dominant intermediate 3 (C535401)
..expandCharcot-Marie-Tooth Disease, Dominant Intermediate A (C564702)
..expandCharcot-Marie-Tooth Disease, Dominant Intermediate B (C564703)
..expandCharcot-Marie-Tooth Disease, Dominant Intermediate C (C564257)
..expandCharcot-Marie-Tooth Disease, Dominant Intermediate D (C564333)
..expandCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
..expandCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F (OMIM:615185)
..expandCharcot-Marie-Tooth Disease, Foot Deformity of (C564179)
..expandCharcot-Marie-Tooth Disease, Guadalajara Neuronal Type (C566137)
..expandCharcot-Marie-Tooth Disease, Recessive Intermediate A (C564256)
..expandCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
..expandCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
..expandCHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D (OMIM:616039)
..expandCharcot-Marie-Tooth disease, Type 1C (C537984)
..expandCharcot-Marie-Tooth disease, Type 1D (C537985)
..expandCharcot-Marie-Tooth disease, Type 1E (C537986)
..expandCharcot-Marie-Tooth disease, Type 1F (C537987)
..expandCharcot-Marie-Tooth disease, Type 2A (C537988)
..expandCharcot-Marie-Tooth disease, Type 2B (C537989)
..expandCharcot-Marie-Tooth disease, Type 2B1 (C537990)
..expandCharcot-Marie-Tooth disease, Type 2B2 (C537991)
..expandCharcot-Marie-Tooth disease, Type 2C (C537992)
..expandCharcot-Marie-Tooth disease, Type 2D (C537993)
..expandCharcot-Marie-Tooth disease, Type 2E (C537994)
..expandCharcot-Marie-Tooth disease, Type 2F (C535413)
..expandCharcot-Marie-Tooth disease, Type 2H (C535415)
..expandCharcot-Marie-Tooth disease, Type 2I (C535416)
..expandCharcot-Marie-Tooth disease, Type 2J (C535417)
..expandCharcot-Marie-Tooth disease, Type 2K (C535418)
..expandCharcot-Marie-Tooth disease, Type 4A (C535419)
..expandCharcot-Marie-Tooth disease, Type 4A, axonal form (C539595) Child1
..expandCharcot-Marie-Tooth disease, Type 4B1 (C535420)
..expandCharcot-Marie-Tooth disease, Type 4B2 (C535421)
..expandCharcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma (C535422)
..expandCHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
..expandCharcot-Marie-Tooth disease, Type 4C (C535423)
..expandCharcot-Marie-Tooth disease, Type 4E (C535301)
..expandCharcot-Marie-Tooth Disease, Type 4H (C563740)
..expandCharcot-Marie-Tooth Disease, Type 4j (C566984)
..expandCHARCOT-MARIE-TOOTH DISEASE, TYPE 4K (OMIM:616684)
..expandCharcot-Marie-Tooth disease, X-linked recessive, 2 (C535302)
..expandCharcot-Marie-Tooth disease, X-linked recessive, 3 (C535303)
..expandCharcot-Marie-Tooth disease, X-linked, 1 (C535919)
..expandCharcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia (C564704)
..expandCharcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma (C565761)
..expandCharcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (C564446)
..expandCowchock syndrome (C536450)
..expandHereditary Motor And Sensory Neuropathy, Type IIC (C565261)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandNeuropathy, Distal Hereditary Motor, Type IIA (C563561)
..expandNeuropathy, hereditary motor and sensory, LOM type (C535716)
..expandPolyneuropathy, Mixed, of Early Onset (C564879)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2187
Name:CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
Definition:
Alternative IDs:DO:DOID:0110181
ParentIDs:MESH:D002607
TreeNumbers:C10.500.300.200/616688 |C10.574.500.495.200/616688 |C10.668.829.800.300.200/616688 |C16.131.666.300.200/616688 |C16.320.400.375.200/616688
Synonyms:CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z |CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z |CMT2Z
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 616688
MeSH: 616688
OMIM: 616688;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007256Abnormal pyramidal signsHP:0040283
3 HP:0002355Difficulty walking
4 HP:0002936Distal sensory impairment
5 HP:0002380Fasciculations
6 HP:0009027Foot dorsiflexor weakness
7 HP:0001290Generalized hypotonia
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
HP:0040283
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
HP:0040283
10 HP:0000365Hearing impairment
11 HP:0001620High pitched voice
12 HP:0001276HypertoniaHP:0040283
13 HP:0001270Motor delayHP:0040283
14 HP:0003394Muscle cramps
15 HP:0002411Myokymia
16 HP:0001761Pes cavus
17 HP:0003812Phenotypic variability
18 HP:0002650ScoliosisHP:0040283
19 HP:0003677Slow progression
20 HP:0001171Split handHP:0040283
21 HP:0000020Urinary incontinenceHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)22880MORC2Likely benignrs149110760RCV000541459; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132280831322808GT22:g.31322808G>TClinGen:CA514238347C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.3081C>T (p.Leu1027=)22880MORC2Likely benign-1RCV001497156; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132280831322808GA31322808-
NM_001303256.3(MORC2):c.3066C>G (p.Ala1022=)22880MORC2Likely benign-1RCV001493108; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132282331322823GC31322823-
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=)22880MORC2Likely benignrs138812699RCV000530436|RCV001415270; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132282631322826GANC_000022.10:g.31322826G>AClinGen:CA10186461C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.3031-4C>G22880MORC2Likely benignrs373542143RCV000927845|RCV001858590; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132286231322862GC22:g.31322862G>C-
NM_001303256.3(MORC2):c.3031-9C>G22880MORC2Likely benign-1RCV002185497; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132286731322867GC31322867-
NM_001303256.3(MORC2):c.3030+9_3030+10delinsTT22880MORC2Likely benign-1RCV001436619; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132399631323997CCAA31323996-
NM_001303256.3(MORC2):c.3030+9G>C22880MORC2Benignrs200086094RCV000952093|RCV001683698; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223132399731323997CG22:g.31323997C>G-
NM_001303256.3(MORC2):c.3030+8C>T22880MORC2Likely benignrs376367685RCV000906462; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132399831323998GA22:g.31323998G>A-
NM_001303256.3(MORC2):c.3030+7C>T22880MORC2Likely benignrs766942597RCV000906113; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132399931323999GA22:g.31323999G>A-
NM_001303256.3(MORC2):c.3030+6C>G22880MORC2Uncertain significancers1388656367RCV000807554; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132400031324000GC22:g.31324000G>C-
NM_001303256.3(MORC2):c.3028G>C (p.Glu1010Gln)22880MORC2Uncertain significancers1202036526RCV001344643; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132400831324008CG31324008-
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=)22880MORC2Likely benignrs765411579RCV000552143; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132402131324021CG22:g.31324021C>GClinGen:CA10186496C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)22880MORC2Uncertain significancers778221935RCV001238431; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132403231324032CT22:g.31324032C>T-
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=)22880MORC2Benignrs142766430RCV000874512; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132404731324047GA22:g.31324047G>A-
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)22880MORC2Uncertain significancers2040516792RCV001068115; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132405731324062GCTTCTCG22:g.31324057_31324062del-
NM_001303256.3(MORC2):c.2970G>A (p.Thr990=)22880MORC2Likely benignrs781327828RCV000888890|RCV001408216; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132406631324066CT22:g.31324066C>T-
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)22880MORC2Uncertain significancers745339848RCV000795893; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132406731324067GA22:g.31324067G>A-
NM_001303256.3(MORC2):c.2964C>T (p.Arg988=)22880MORC2Likely benign-1RCV001421614; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132407231324072GA31324072-
NM_001303256.3(MORC2):c.2963G>A (p.Arg988His)22880MORC2Uncertain significance-1RCV001940996; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132407331324073CT31324073-
NM_001303256.3(MORC2):c.2962C>T (p.Arg988Cys)22880MORC2Uncertain significance-1RCV001897917; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132407431324074GA31324074-
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=)22880MORC2Likely benignrs372404658RCV000541665; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132408731324087GA22:g.31324087G>AClinGen:CA10186509C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala)22880MORC2Uncertain significancers771410096RCV000526856; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132409231324092TC22:g.31324092T>CClinGen:CA10186510C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)22880MORC2Uncertain significancers1307310663RCV001244957; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132409531324095GA22:g.31324095G>A-
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=)22880MORC2Likely benignrs376140991RCV000922565; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132410831324108GA22:g.31324108G>A-
NM_001303256.3(MORC2):c.2915G>A (p.Arg972Gln)22880MORC2Uncertain significance-1RCV001946258; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132412131324121CT31324121-
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp)22880MORC2Uncertain significancers1485425350RCV000548906; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132412231324122GA22:g.31324122G>AClinGen:CA411229864C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2903G>A (p.Arg968His)22880MORC2Uncertain significance-1RCV001929228; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132413331324133CT31324133-
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser)22880MORC2Conflicting interpretations of pathogenicityrs781162787RCV000658935|RCV001040521|RCV001784225; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|Human Phenotype Ontology:HP:0040083,MedGen:C0427144223132414831324148TC22:g.31324148T>C-CN517202 not provided;
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)22880MORC2Uncertain significancers750335952RCV001056629; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132415631324156GC22:g.31324156G>C-
NM_001303256.3(MORC2):c.2847G>A (p.Glu949=)22880MORC2Likely benign-1RCV002152303; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132418931324189CT31324189-
NM_001303256.3(MORC2):c.2841+20C>T22880MORC2Benign/Likely benign-1RCV001571834|RCV002072225; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132832631328326GA31328326-
NM_001303256.3(MORC2):c.2841+18T>A22880MORC2Likely benign-1RCV002161898; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132832831328328AT31328328-
NM_001303256.3(MORC2):c.2813A>G (p.Asn938Ser)22880MORC2Uncertain significance-1RCV001914947; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132837431328374TC31328374-
NM_001303256.3(MORC2):c.2798A>C (p.Gln933Pro)22880MORC2Uncertain significance-1RCV002041375; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132838931328389TG31328389-
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)22880MORC2Uncertain significancers1413895387RCV001222766; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132839131328391CA22:g.31328391C>A-
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)22880MORC2Uncertain significancers768569356RCV000793908; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132841131328411TC22:g.31328411T>C-
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=)22880MORC2Benignrs767914603RCV000538670|RCV001520959; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132843331328433AGNC_000022.10:g.31328433A>GClinGen:CA10186556C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2748-3T>C22880MORC2Uncertain significance-1RCV001991234; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132844231328442AG31328442-
NM_001303256.3(MORC2):c.2748-6_2748-4del22880MORC2Uncertain significance-1RCV001897192; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132844331328445AAAGA31328442-
NM_001303256.3(MORC2):c.2747+16G>T22880MORC2Likely benign-1RCV002092216; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132851631328516CA31328516-
NM_001303256.3(MORC2):c.2747+5_2747+6del22880MORC2Benignrs67357185RCV000528240|RCV001613374; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223132852631328527CATC22:g.31328526_31328527delClinGen:CA10186575C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2747+6T>C22880MORC2Uncertain significancers368417146RCV000796934; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132852631328526AG22:g.31328526A>G-
NM_001303256.3(MORC2):c.2739G>A (p.Gln913=)22880MORC2Likely benign-1RCV002142246; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132854031328540CT31328540-
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe)22880MORC2Uncertain significancers1569188333RCV000688951; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132854531328545CANC_000022.10:g.31328545C>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=)22880MORC2Likely benignrs147997704RCV000550011; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132855531328555GA22:g.31328555G>AClinGen:CA10186581C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2719A>T (p.Thr907Ser)22880MORC2Uncertain significance-1RCV001917422; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132856031328560TA31328560-
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)22880MORC2Uncertain significancers1042426757RCV000691812; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132856831328568TCNC_000022.10:g.31328568T>C-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=)22880MORC2Likely benignrs141374674RCV000907640; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132857031328570GA22:g.31328570G>A-
NM_001303256.3(MORC2):c.2708C>G (p.Thr903Ser)22880MORC2Uncertain significance-1RCV001366497; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132857131328571GC31328571-
NM_001303256.3(MORC2):c.2702_2704dup (p.Ser902_Thr903insMet)22880MORC2Uncertain significancers779496791RCV001090280|RCV001862674; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132857431328575CCTCA22:g.31328574_31328575insTCA-
NM_001303256.3(MORC2):c.2705G>C (p.Ser902Thr)22880MORC2Uncertain significancers141633101RCV001307472; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132857431328574CG31328574-
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser)22880MORC2Uncertain significancers1555936530RCV000534380; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132858131328581CA22:g.31328581C>AClinGen:CA411231783C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2685G>A (p.Glu895=)22880MORC2Likely benign-1RCV001464886; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132859431328594CT31328594-
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)22880MORC2Uncertain significancers202243108RCV000814838; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132860131328601CT22:g.31328601C>T-
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)22880MORC2Uncertain significancers150496681RCV001223760; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132860231328602GA22:g.31328602G>A-
NM_001303256.3(MORC2):c.2668G>A (p.Glu890Lys)22880MORC2Uncertain significancers201090445RCV001091565|RCV001313292; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132861131328611CT22:g.31328611C>T-
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=)22880MORC2Likely benignrs565441094RCV000652696; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132861231328612GANC_000022.10:g.31328612G>AClinGen:CA10186596C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2667C>G (p.Ser889=)22880MORC2Likely benign-1RCV002145860; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132861231328612GC31328612-
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)22880MORC2Uncertain significancers372297066RCV000821392|RCV001824892; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN169374223132862931328629CT22:g.31328629C>T-
NM_001303256.3(MORC2):c.2649C>T (p.Val883=)22880MORC2Benignrs189421529RCV000560626; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132863031328630GA22:g.31328630G>AClinGen:CA10186601C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)22880MORC2Uncertain significancers372199572RCV000815989; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132863531328635CT22:g.31328635C>T-
NM_001303256.3(MORC2):c.2643A>T (p.Ile881=)22880MORC2Likely benign-1RCV001496468; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132863631328636TA31328636-
NM_001303256.3(MORC2):c.2635C>G (p.Gln879Glu)22880MORC2Uncertain significancers1399798893RCV001340100; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132864431328644GC31328644-
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His)22880MORC2Uncertain significancers1388475410RCV000652693; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132864531328645CG22:g.31328645C>GClinGen:CA411231911C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)22880MORC2Uncertain significancers767254485RCV001061589; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132864631328646TA22:g.31328646T>A-
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)22880MORC2Uncertain significancers1602477856RCV000808774; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132864931328649GA22:g.31328649G>A-
NM_001303256.3(MORC2):c.2617G>T (p.Val873Leu)22880MORC2Likely benign-1RCV001435854; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132866231328662CA31328662-
NM_001303256.3(MORC2):c.2617G>C (p.Val873Leu)22880MORC2Uncertain significance-1RCV001880860; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132866231328662CG31328662-
NM_001303256.3(MORC2):c.2605G>A (p.Gly869Arg)22880MORC2Uncertain significancers143046823RCV001341486; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132867431328674CT31328674-
NM_001303256.3(MORC2):c.2604C>T (p.Gly868=)22880MORC2Likely benign-1RCV001426538; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132867531328675GA31328675-
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=)22880MORC2Benignrs140142437RCV000652699; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132869631328696GANC_000022.10:g.31328696G>AClinGen:CA10186614C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=)22880MORC2Likely benignrs773690053RCV000945481; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132872031328720TC22:g.31328720T>C-
NM_001303256.3(MORC2):c.2522+17G>A22880MORC2Likely benign-1RCV002131329; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132885931328859CT31328859-
NM_001303256.3(MORC2):c.2522+11A>C22880MORC2Likely benign-1RCV002139776; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132886531328865TG31328865-
NM_001303256.3(MORC2):c.2522+3A>G22880MORC2Uncertain significancers2040596380RCV001051046; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132887331328873TC22:g.31328873T>C-
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)22880MORC2Uncertain significancers760341830RCV001228781; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132889431328894GA22:g.31328894G>A-
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=)22880MORC2Benign/Likely benignrs41279971RCV001001864|RCV001568276; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223132892931328929CG22:g.31328929C>GClinGen:CA10186645C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2469G>T (p.Arg823=)22880MORC2Likely benign-1RCV001431023; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132892931328929CA31328929-
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)22880MORC2Uncertain significancers764479914RCV001215592; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132893031328930CT22:g.31328930C>T-
NM_001303256.3(MORC2):c.2467C>T (p.Arg823Trp)22880MORC2Uncertain significance-1RCV002022362; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132893131328931GA31328931-
NM_001303256.3(MORC2):c.2466G>A (p.Val822=)22880MORC2Likely benign-1RCV002215375; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132893231328932CT31328932-
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)22880MORC2Uncertain significancers2040597232RCV001061060; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132893431328934CA22:g.31328934C>A-
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)22880MORC2Uncertain significancers2040597405RCV001068541; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132894631328946CT22:g.31328946C>T-
NM_001303256.3(MORC2):c.2432G>A (p.Arg811His)22880MORC2Uncertain significancers1163301326RCV001344031; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132896631328966CT31328966-
NM_001303256.3(MORC2):c.2411A>G (p.Asn804Ser)22880MORC2Uncertain significancers759734334RCV001297854; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132898731328987TC31328987-
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)22880MORC2Uncertain significancers370149816RCV001236067; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132900331329003CT22:g.31329003C>T-
NM_001303256.3(MORC2):c.2394C>T (p.His798=)22880MORC2Likely benign-1RCV001447444; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132900431329004GA31329004-
NM_001303256.3(MORC2):c.2388G>T (p.Gly796=)22880MORC2Likely benign-1RCV001491176; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132901031329010CA31329010-
NM_001303256.3(MORC2):c.2381-3C>T22880MORC2Uncertain significancers1309634022RCV000821804; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132902031329020GA22:g.31329020G>A-
NM_001303256.3(MORC2):c.2381-7T>C22880MORC2Likely benignrs754758325RCV000557415; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132902431329024AG22:g.31329024A>GClinGen:CA10186655C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2381-10A>G22880MORC2Likely benign-1RCV002079854; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132902731329027TC31329027-
NM_001303256.3(MORC2):c.2381-12C>T22880MORC2Likely benign-1RCV002165707; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132902931329029GA31329029-
NM_001303256.3(MORC2):c.2380+16G>T22880MORC2Likely benign-1RCV002163186; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132943731329437CA31329437-
NM_001303256.3(MORC2):c.2380+7T>A22880MORC2Likely benign-1RCV002200561; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132944631329446AT31329446-
NM_001303256.3(MORC2):c.2380+6C>G22880MORC2Uncertain significancers1555936909RCV000652680; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132944731329447GC22:g.31329447G>CClinGen:CA658799536C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2380+1G>A22880MORC2Uncertain significancers113045177RCV000990421; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132945231329452CT22:g.31329452C>T-
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)22880MORC2Uncertain significancers2040606407RCV001210395; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132945431329454TA22:g.31329454T>A-
NM_001303256.3(MORC2):c.2376G>A (p.Gln792=)22880MORC2Likely benign-1RCV002099869; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132945731329457CT31329457-
NM_001303256.3(MORC2):c.2364C>T (p.Leu788=)22880MORC2Likely benignrs761189043RCV000876072|RCV001440765; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132946931329469GA22:g.31329469G>A-
NM_001303256.3(MORC2):c.2361C>A (p.Asp787Glu)22880MORC2Uncertain significancers766384151RCV001314496; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132947231329472GT31329472-
NM_001303256.3(MORC2):c.2361C>T (p.Asp787=)22880MORC2Likely benign-1RCV001408423; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132947231329472GA31329472-
NM_001303256.3(MORC2):c.2358T>C (p.Ala786=)22880MORC2Likely benignrs537987039RCV000896163|RCV001473727; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132947531329475AG22:g.31329475A>G-
NM_001303256.3(MORC2):c.2355G>A (p.Ser785=)22880MORC2Likely benign-1RCV001394881; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132947831329478CT31329478-
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)22880MORC2Uncertain significancers551185965RCV000801242; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132947931329479GA22:g.31329479G>A-
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)22880MORC2Uncertain significancers751495570RCV000817210; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132948731329487TG22:g.31329487T>G-
NM_001303256.3(MORC2):c.2326-10C>T22880MORC2Likely benign-1RCV002113177; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132951731329517GA31329517-
NM_001303256.3(MORC2):c.2326-19T>C22880MORC2Likely benign-1RCV002099993; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223132952631329526AG31329526-
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=)22880MORC2Likely benignrs377574758RCV000652697; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133005331330053CT22:g.31330053C>TClinGen:CA10186719C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=)22880MORC2Likely benignrs377574758RCV000897073; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133005331330053CG22:g.31330053C>G-
NM_001303256.3(MORC2):c.2318C>T (p.Ser773Leu)22880MORC2Likely benign-1RCV001401908; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133005431330054GA31330054-
NM_001303256.3(MORC2):c.2316C>T (p.Asp772=)22880MORC2Likely benign-1RCV001407938; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133005631330056GA31330056-
NM_001303256.3(MORC2):c.2313G>A (p.Lys771=)22880MORC2Likely benign-1RCV001505347; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133005931330059CT31330059-
NM_001303256.3(MORC2):c.2292T>G (p.Phe764Leu)22880MORC2Uncertain significancers1396767941RCV001308337; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133008031330080AC31330080-
NM_001303256.3(MORC2):c.2292T>C (p.Phe764=)22880MORC2Likely benign-1RCV002147449; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133008031330080AG31330080-
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)22880MORC2Uncertain significancers754626172RCV000821756; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133009031330090CT22:g.31330090C>T-
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp)22880MORC2Uncertain significancers369384586RCV000547285; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133009131330091GA22:g.31330091G>AClinGen:CA10186723C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2270A>G (p.Glu757Gly)22880MORC2Uncertain significancers774444542RCV001304161; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133010231330102TC31330102-
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)22880MORC2Uncertain significancers2040618367RCV001053799; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133010531330105TG22:g.31330105T>G-
NM_001303256.3(MORC2):c.2247GGA[1] (p.Glu751del)22880MORC2Uncertain significancers1247915167RCV000686354; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133012031330122TTCCTNC_000022.10:g.31330122CTC[1]-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)22880MORC2Uncertain significancers746418433RCV000815446; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133012931330129AG22:g.31330129A>G-
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)22880MORC2Benignrs41279975RCV001001934|RCV001706674; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133013431330134TC22:g.31330134T>CClinGen:CA10186729C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=)22880MORC2Likely benignrs775654284RCV000902400; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133014031330140AG22:g.31330140A>G-
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)22880MORC2Uncertain significancers142840638RCV000791773; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133014431330144GT22:g.31330144G>T-
NM_001303256.3(MORC2):c.2223A>G (p.Ala741=)22880MORC2Likely benignrs1467334667RCV001398053|RCV000979193; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133014931330149TC22:g.31330149T>C-
NM_001303256.3(MORC2):c.2207G>A (p.Arg736Gln)22880MORC2Uncertain significance-1RCV001368981; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133016531330165CT31330165-
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)22880MORC2Uncertain significancers186049675RCV001053422; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133016931330169TC22:g.31330169T>C-
NM_001303256.3(MORC2):c.2194-4C>G22880MORC2Likely benign-1RCV002108824; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133018231330182GC31330182-
NM_001303256.3(MORC2):c.2194-7G>C22880MORC2Likely benign-1RCV002094275; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133018531330185CG31330185-
NM_001303256.3(MORC2):c.2194-12C>T22880MORC2Likely benign-1RCV002215486; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133019031330190GA31330190-
NM_001303256.3(MORC2):c.2194-16G>A22880MORC2Likely benign-1RCV002091980; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133019431330194CT31330194-
NM_001303256.3(MORC2):c.2194-17C>T22880MORC2Likely benign-1RCV002124575; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133019531330195GA31330195-
NM_001303256.3(MORC2):c.2193+15C>T22880MORC2Benign/Likely benign-1RCV002052359|RCV002077357; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133075331330753GA31330753-
NM_001303256.3(MORC2):c.2193+12G>T22880MORC2Likely benign-1RCV002188414; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133075631330756CA31330756-
NM_001303256.3(MORC2):c.2193+8G>A22880MORC2Likely benign-1RCV001441720; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133076031330760CT31330760-
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu)22880MORC2Uncertain significancers760522350RCV000658936|RCV001053037; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133076931330769GA22:g.31330769G>A-CN517202 not provided;
NM_001303256.3(MORC2):c.2190C>T (p.Ser730=)22880MORC2Benign-1RCV002149518; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133077131330771GA31330771-
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)22880MORC2Uncertain significancers1602481313RCV000804294; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133078231330782TC22:g.31330782T>C-
NM_001303256.3(MORC2):c.2176C>G (p.Pro726Ala)22880MORC2Uncertain significancers2040627406RCV001059250; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133078531330785GC22:g.31330785G>C-
NM_001303256.3(MORC2):c.2171A>G (p.Glu724Gly)22880MORC2Uncertain significancers1031845854RCV001297524; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133079031330790TC31330790-
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser)22880MORC2Uncertain significancers780648306RCV000652679; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133083331330833GA22:g.31330833G>AClinGen:CA10186765C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2124G>T (p.Glu708Asp)22880MORC2Likely benign-1RCV001434916; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133083731330837CA31330837-
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln)22880MORC2Uncertain significancers768807060RCV000652687; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133084131330841CT22:g.31330841C>TClinGen:CA10186767C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2119C>T (p.Arg707Trp)22880MORC2Uncertain significance-1RCV001809066; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133084231330842GA31330842-
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)22880MORC2Uncertain significancers201032497RCV000704761; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133085531330855GT22:g.31330855G>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2097A>G (p.Leu699=)22880MORC2Likely benign-1RCV001488861; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133086431330864TC31330864-
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro)22880MORC2Uncertain significancers897158764RCV000652682; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133086931330869AG22:g.31330869A>GClinGen:CA323271275C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2076GCA[1] (p.Gln694del)22880MORC2Uncertain significance-1RCV001983689; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133088031330882TTGCT31330879-
NM_001303256.3(MORC2):c.2072_2074delinsACC (p.Leu691_Val692delinsHisLeu)22880MORC2Uncertain significance-1RCV001968213; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133088731330889CCAGGT31330887-
NM_001303256.3(MORC2):c.2072T>C (p.Leu691Pro)22880MORC2Uncertain significance-1RCV002051375; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133088931330889AG31330889-
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)22880MORC2Uncertain significancers560948457RCV000692860; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133089531330895GA22:g.31330895G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)22880MORC2Uncertain significancers201772330RCV000823268; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133090131330901CT22:g.31330901C>T-
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)22880MORC2Benign/Likely benignrs144493873RCV000558469|RCV001354178; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133091731330917CT22:g.31330917C>TClinGen:CA10186784C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)22880MORC2Uncertain significancers2040630159RCV001241364; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133092331330923TC22:g.31330923T>C-
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)22880MORC2Uncertain significancers563612262RCV000706224; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133093731330937CT22:g.31330937C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2022C>T (p.Pro674=)22880MORC2Likely benign-1RCV001440481; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133093931330939GA31330939-
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)22880MORC2Uncertain significancers778099643RCV000688565; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133094331330943GC22:g.31330943G>C-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)22880MORC2Uncertain significancers747230744RCV001051440; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133095231330952GA22:g.31330952G>A-
NM_001303256.3(MORC2):c.1995T>C (p.Ser665=)22880MORC2Likely benignrs1331830441RCV000932786|RCV001414504; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133096631330966AG22:g.31330966A>G-
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys)22880MORC2Uncertain significance-1RCV001924018; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133096731330967GC31330967-
NM_001303256.3(MORC2):c.1988G>A (p.Ser663Asn)22880MORC2Uncertain significance-1RCV001890109; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133097331330973CT31330973-
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)22880MORC2Uncertain significancers769791429RCV001229932; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133098531330985CT22:g.31330985C>T-
NM_001303256.3(MORC2):c.1976G>C (p.Arg659Pro)22880MORC2Uncertain significance-1RCV001931076; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133098531330985CG31330985-
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)22880MORC2Uncertain significancers763542037RCV000702791; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133100531331005CGNC_000022.10:g.31331005C>G-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile)22880MORC2Uncertain significancers371710965RCV000652692; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133101231331012GANC_000022.10:g.31331012G>AClinGen:CA10186798C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)22880MORC2Uncertain significancers200703581RCV000798275; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133101931331019TC22:g.31331019T>C-
NM_001303256.3(MORC2):c.1940T>C (p.Ile647Thr)22880MORC2Likely benign-1RCV002087622; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133102131331021AG31331021-
NM_001303256.3(MORC2):c.1935T>G (p.Pro645=)22880MORC2Likely benign-1RCV001397981; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133102631331026AC31331026-
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=)22880MORC2Likely benignrs1555937681RCV000542939; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133103231331032CT22:g.31331032C>TClinGen:CA514458196C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)22880MORC2Uncertain significancers765892287RCV001034791; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133103631331036CT22:g.31331036C>T-
NM_001303256.3(MORC2):c.1924C>T (p.Arg642Ter)22880MORC2Uncertain significancers373881103RCV001295655; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133103731331037GA31331037-
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)22880MORC2Uncertain significancers1602481898RCV000799930; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133104331331043GC22:g.31331043G>C-
NM_001303256.3(MORC2):c.1909C>A (p.Pro637Thr)22880MORC2Uncertain significance-1RCV002018806; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133105231331052GT31331052-
NM_001303256.3(MORC2):c.1890T>G (p.Pro630=)22880MORC2Likely benignrs780961511RCV000937478|RCV001488451; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133107131331071AC22:g.31331071A>C-
NM_001303256.3(MORC2):c.1874C>G (p.Ala625Gly)22880MORC2Uncertain significance-1RCV001918384; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133108731331087GC31331087-
NM_001303256.3(MORC2):c.1872C>T (p.Asn624=)22880MORC2Likely benign-1RCV002016957; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133108931331089GA31331089-
NM_001303256.3(MORC2):c.1859dup (p.Val621fs)22880MORC2Uncertain significancers1569190645RCV000699209; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133110131331102AAG22:g.31331101_31331102insG-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1841G>A (p.Arg614Gln)22880MORC2Uncertain significance-1RCV001920724; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133112031331120CT31331120-
NM_001303256.3(MORC2):c.1835G>A (p.Arg612His)22880MORC2Uncertain significance-1RCV002000239; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133112631331126CT31331126-
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)22880MORC2Uncertain significancers751657222RCV001216115; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133112931331129TC22:g.31331129T>C-
NM_001303256.3(MORC2):c.1823G>A (p.Arg608His)22880MORC2Uncertain significance-1RCV001965473; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133113831331138CT31331138-
NM_001303256.3(MORC2):c.1822C>T (p.Arg608Cys)22880MORC2Uncertain significance-1RCV001887791; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133113931331139GA31331139-
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala)22880MORC2Uncertain significancers1555937777RCV000652690; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133114131331141AG22:g.31331141A>GClinGen:CA411236013C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)22880MORC2Uncertain significancers1602482166RCV000820109; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133114431331144GA22:g.31331144G>A-
NM_001303256.3(MORC2):c.1813-3T>A22880MORC2Uncertain significance-1RCV001976057; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133115131331151AT31331151-
NM_001303256.3(MORC2):c.1813-3del22880MORC2Benign-1RCV002198231; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133115131331151TAT31331150-
NM_001303256.3(MORC2):c.1812+17T>C22880MORC2Likely benign-1RCV002154323; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133121831331218AG31331218-
NM_001303256.3(MORC2):c.1812+14G>A22880MORC2Likely benign-1RCV002170598; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133122131331221CT31331221-
NM_001303256.3(MORC2):c.1812+14G>C22880MORC2Likely benign-1RCV002088083; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133122131331221CG31331221-
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=)22880MORC2Uncertain significancers1214680334RCV000652689; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133123531331235CT22:g.31331235C>TClinGen:CA514239118C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)22880MORC2Uncertain significancers200774292RCV000691126; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133124831331248CTNC_000022.10:g.31331248C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1797C>A (p.Thr599=)22880MORC2Likely benign-1RCV002182524; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133125031331250GT31331250-
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)22880MORC2Benign/Likely benignrs146972491RCV000532765|RCV001692197; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133127931331279GA22:g.31331279G>AClinGen:CA10186851C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)22880MORC2Uncertain significancers778753246RCV000685708; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133128631331286TC22:g.31331286T>C-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His)22880MORC2Likely benignrs137983239RCV000875267; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133129331331293CT22:g.31331293C>T-
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)22880MORC2Uncertain significancers548292999RCV000688838|RCV000857116|RCV001775959; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MONDO:MONDO:0015362,MedGen:C5548212, Orphanet:140465|MedGen:CN517202223133129431331294GANC_000022.10:g.31331294G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)22880MORC2Uncertain significancers770774096RCV000700120; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133130031331300GT22:g.31331300G>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1738-12T>A22880MORC2Likely benign-1RCV002078815; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133132131331321AT31331321-
NM_001303256.3(MORC2):c.1737+4C>T22880MORC2Benign/Likely benignrs5997814RCV000554167|RCV001584346; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133249431332494GA22:g.31332494G>AClinGen:CA10186876C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)22880MORC2Uncertain significancers756912389RCV000696534; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133250631332506CA22:g.31332506C>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1727A>C (p.Glu576Ala)22880MORC2Uncertain significance-1RCV001361089; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133250831332508TG31332508-
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)22880MORC2Uncertain significancers2040654543RCV001232282; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133251231332512GT22:g.31332512G>T-
NM_001303256.3(MORC2):c.1722G>A (p.Lys574=)22880MORC2Likely benign-1RCV001397357; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133251331332513CT31332513-
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)22880MORC2Likely benignrs759248549RCV000935489|RCV001815490; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133256731332567CT22:g.31332567C>T-
NM_001303256.3(MORC2):c.1667C>T (p.Thr556Met)22880MORC2Uncertain significance-1RCV001978964; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133256831332568GA31332568-
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)22880MORC2Uncertain significancers1338480863RCV000804984; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133258531332585GC22:g.31332585G>C-
NM_001303256.3(MORC2):c.1626G>T (p.Lys542Asn)22880MORC2Uncertain significancers2040655936RCV001308250; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133260931332609CA31332609-
NM_001303256.3(MORC2):c.1605-3C>T22880MORC2Uncertain significancers111618347RCV000698620; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133263331332633GANC_000022.10:g.31332633G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1604+10T>C22880MORC2Likely benign-1RCV001429651; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133290931332909AG31332909-
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)22880MORC2Uncertain significancers750003469RCV000796227; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133291931332919CT22:g.31332919C>T-
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)22880MORC2Uncertain significancers576981610RCV001215016; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133292031332920GA22:g.31332920G>A-
NM_001303256.3(MORC2):c.1569G>A (p.Trp523Ter)22880MORC2Uncertain significance-1RCV002031575; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133295431332954CT31332954-
NM_001303256.3(MORC2):c.1565C>T (p.Thr522Ile)22880MORC2Uncertain significance-1RCV002000655; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133295831332958GA31332958-
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)22880MORC2Uncertain significancers749364295RCV000821041; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133296231332962CA22:g.31332962C>A-
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser)22880MORC2Uncertain significancers1555938391RCV000652677; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133296531332965GANC_000022.10:g.31332965G>AClinGen:CA411237494C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)22880MORC2Uncertain significancers1407971807RCV001068396; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133298231332982GC22:g.31332982G>C-
NM_001303256.3(MORC2):c.1532A>G (p.Gln511Arg)22880MORC2Uncertain significancers2040663423RCV001211818; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133299131332991TC22:g.31332991T>C-
NM_001303256.3(MORC2):c.1499-3C>T22880MORC2Uncertain significancers1266866371RCV001321964; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133302731333027GA31333027-
NM_001303256.3(MORC2):c.1499-9T>C22880MORC2Benignrs201213165RCV000539764|RCV001613373; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133303331333033AG22:g.31333033A>GClinGen:CA10186930C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1499-12T>G22880MORC2Benign-1RCV002126753; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133303631333036AC31333036-
NM_001303256.3(MORC2):c.1499-19G>A22880MORC2Likely benign-1RCV002119133; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133304331333043CT31333043-
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=)22880MORC2Uncertain significancers1345120667RCV000693936; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133357131333571GA22:g.31333571G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1491C>T (p.Ile497=)22880MORC2Likely benign-1RCV002179452; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133357731333577GA31333577-
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr)22880MORC2Uncertain significancers1569192031RCV000687756; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133360031333600CT22:g.31333600C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)22880MORC2Uncertain significancers1602485184RCV000805263; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133360231333602CT22:g.31333602C>T-
NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp)22880MORC2Uncertain significance-1RCV001876661; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133360631333606GA31333606-
NM_001303256.3(MORC2):c.1451G>A (p.Arg484His)22880MORC2Uncertain significancers143046507RCV001313180|RCV001843582; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133361731333617CT31333617-
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)22880MORC2Uncertain significancers367704663RCV000814817; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133362131333621GC22:g.31333621G>C-
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)22880MORC2Uncertain significancers897870181RCV000705171; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133362231333622CANC_000022.10:g.31333622C>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)22880MORC2Benign-1RCV001518490|RCV001673096; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133363131333631TC31333631-
NM_001303256.3(MORC2):c.1383C>T (p.Ile461=)22880MORC2Likely benign-1RCV002191142; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133368531333685GA31333685-
NM_001303256.3(MORC2):c.1381A>G (p.Ile461Val)22880MORC2Uncertain significance-1RCV002022014; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133368731333687TC31333687-
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)22880MORC2Uncertain significancers1569192110RCV000694058; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133368931333689CT22:g.31333689C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1370-3C>T22880MORC2Uncertain significancers770913783RCV000700630; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133370131333701GANC_000022.10:g.31333701G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1370-17C>T22880MORC2Likely benign-1RCV002132778; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133371531333715GA31333715-
NM_001303256.3(MORC2):c.1369+5T>A22880MORC2Uncertain significancers147800268RCV001225426; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133379731333797AT22:g.31333797A>T-
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)22880MORC2Uncertain significancers777612473RCV000704939; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133380331333803GT22:g.31333803G>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1366A>G (p.Ile456Val)22880MORC2Uncertain significance-1RCV002037568; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133380531333805TC31333805-
NM_001303256.3(MORC2):c.1357G>A (p.Asp453Asn)22880MORC2Uncertain significancers1007541711RCV001346353; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133381431333814CT31333814-
NM_001303256.3(MORC2):c.1346A>G (p.Gln449Arg)22880MORC2Uncertain significancers2040678442RCV001301903; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133382531333825TC31333825-
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)22880MORC2Uncertain significancers2040678770RCV001216765; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133383131333831AC22:g.31333831A>C-
NM_001303256.3(MORC2):c.1310G>A (p.Arg437Gln)22880MORC2Uncertain significancers2040679348RCV001220188; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133386131333861CT22:g.31333861C>T-
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=)22880MORC2Likely benignrs768240412RCV000652695; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133386331333863GA22:g.31333863G>AClinGen:CA10187003C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1305G>T (p.Glu435Asp)22880MORC2Uncertain significancers2040679430RCV001302288; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133386631333866CA31333866-
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly)22880MORC2Uncertain significancers1370510062RCV001307835; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133387331333873GC31333873-
NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val)22880MORC2Likely pathogenicrs2040679845RCV001281379|RCV001871631; NMONDO:MONDO:0030835,MedGen:C5436781,OMIM:619090|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133387931333879GA31333879OMIM:616661.0004
NM_001303256.3(MORC2):c.1280A>G (p.Lys427Arg)22880MORC2Uncertain significance-1RCV002018745; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133389131333891TC31333891-
NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala)22880MORC2Uncertain significance-1RCV001932939; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133390131333901TC31333901-
NM_001303256.3(MORC2):c.1250C>G (p.Pro417Arg)22880MORC2Uncertain significance-1RCV002046898; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133392131333921GC31333921-
NM_001303256.3(MORC2):c.1226GGGTTGTTG[3] (p.409GVV[3])22880MORC2Uncertain significancers1555938722RCV000555561; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133392731333928TTCAACAACCC22:g.31333927_31333928insCAACAACCCClinGen:CA658658910C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)22880MORC2Uncertain significancers754338828RCV000540837; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133394731333947GA22:g.31333947G>AClinGen:CA10187007C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe)22880MORC2Uncertain significancers1555938741RCV000656229; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133395131333951CANC_000022.10:g.31333951C>AClinGen:CA411239132C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)22880MORC2Pathogenicrs1555938741RCV000817470; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133395131333951CT22:g.31333951C>T-
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val)22880MORC2Uncertain significancers1602485728RCV000857119|RCV001027506|RCV001215495; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133395431333954GA22:g.31333954G>A-
NM_001303256.3(MORC2):c.1214+10del22880MORC2Likely benign-1RCV001430482; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133404231334042GTG31334041-
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)22880MORC2Uncertain significancers1489926879RCV001038866; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133405331334053TC22:g.31334053T>C-
NM_001303256.3(MORC2):c.1208G>A (p.Gly403Glu)22880MORC2Uncertain significance-1RCV001535818; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133405831334058CT31334058-
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)22880MORC2Conflicting interpretations of pathogenicityrs1555938796RCV000498431|RCV000624267|RCV000689169; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133408531334085TC22:g.31334085T>CClinGen:CA411239301C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1167A>C (p.Arg389=)22880MORC2Likely benign-1RCV002202975; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133409931334099TG31334099-
NM_001303256.3(MORC2):c.1152C>T (p.Ile384=)22880MORC2Likely benign-1RCV001473571; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133411431334114GA31334114-
NM_001303256.3(MORC2):c.1133A>T (p.Asp378Val)22880MORC2Uncertain significancers2040683848RCV001343449; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133413331334133TA31334133-
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)22880MORC2Uncertain significancers762901266RCV000821745; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133414831334148TC22:g.31334148T>C-
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)22880MORC2Uncertain significancers1602486072RCV000819053; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133418031334183GTTCTG22:g.31334180_31334183del-
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe)22880MORC2Uncertain significancers1268129848RCV000686746; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133418831334188GANC_000022.10:g.31334188G>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1075G>T (p.Ala359Ser)22880MORC2Uncertain significance-1RCV001914710; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133419131334191CA31334191-
NM_001303256.3(MORC2):c.1041T>C (p.Asp347=)22880MORC2Likely benign-1RCV001477263; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133564031335640AG31335640-
NM_001303256.3(MORC2):c.1039G>A (p.Asp347Asn)22880MORC2Uncertain significancers138994326RCV001347760; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133564231335642CT31335642-
NM_001303256.3(MORC2):c.1038C>T (p.Ala346=)22880MORC2Likely benignrs199527803RCV000916993|RCV001459994; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133564331335643GA22:g.31335643G>A-
NM_001303256.3(MORC2):c.1038C>A (p.Ala346=)22880MORC2Likely benign-1RCV002210170; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133564331335643GT31335643-
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His)22880MORC2Uncertain significancers753651729RCV000524780; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133565331335653CT22:g.31335653C>TClinGen:CA10187055C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.1027C>T (p.Arg343Cys)22880MORC2Uncertain significancers368475981RCV001325210; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133565431335654GA31335654-
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)22880MORC2Uncertain significancers1602487890RCV000820724; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133566331335663TC22:g.31335663T>C-
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)22880MORC2Uncertain significancers777252717RCV001231610; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133568131335681GC22:g.31335681G>C-
NM_001303256.3(MORC2):c.988G>A (p.Val330Met)22880MORC2Uncertain significance-1RCV001960769; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133569331335693CT31335693-
NM_001303256.3(MORC2):c.988-2del22880MORC2Uncertain significance-1RCV002048933; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133569531335695CTC31335694-
NM_001303256.3(MORC2):c.988-10A>G22880MORC2Uncertain significancers370880177RCV000652683; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133570331335703TC22:g.31335703T>CClinGen:CA10187065C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.987+19C>T22880MORC2Likely benign-1RCV002179994; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133592731335927GA31335927-
NM_001303256.3(MORC2):c.987+10C>T22880MORC2Likely benign-1RCV001396298; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133593631335936GA31335936-
NM_001303256.3(MORC2):c.987+10del22880MORC2Likely benign-1RCV001449242; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133593631335936CGC31335935-
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp)22880MORC2Uncertain significancers558057376RCV000550833; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133595731335957GANC_000022.10:g.31335957G>AClinGen:CA10187087C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.975G>A (p.Thr325=)22880MORC2Likely benignrs201903402RCV000953850; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133595831335958CT22:g.31335958C>T-
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu)22880MORC2Uncertain significancers199973357RCV000536375; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133596431335964GT22:g.31335964G>TClinGen:CA10187090C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.966A>T (p.Gly322=)22880MORC2Benignrs16989204RCV000558057|RCV001672867; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133596731335967TA22:g.31335967T>AClinGen:CA10187091C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.958C>T (p.Leu320=)22880MORC2Likely benignrs376013637RCV000953880|RCV001427380; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133597531335975GA22:g.31335975G>A-
NM_001303256.3(MORC2):c.956G>A (p.Arg319His)22880MORC2Likely pathogenicrs1163530787RCV000664212; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133597731335977CT22:g.31335977C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.946T>C (p.Leu316=)22880MORC2Likely benign-1RCV001502136; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133598731335987AG31335987-
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)22880MORC2Uncertain significancers751140985RCV001069648; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133599231335992CT22:g.31335992C>T-
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)22880MORC2Uncertain significancers369654856RCV000805171; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133599331335993GA22:g.31335993G>A-
NM_001303256.3(MORC2):c.939T>A (p.Ala313=)22880MORC2Benign-1RCV002128359; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133599431335994AT31335994-
NM_001303256.3(MORC2):c.931A>G (p.Ser311Gly)22880MORC2Uncertain significancers1368116984RCV001298020; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133600231336002TC31336002-
NM_001303256.3(MORC2):c.927A>G (p.Ala309=)22880MORC2Likely benignrs1291021388RCV000652698; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133600631336006TC22:g.31336006T>CClinGen:CA514239455C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.919C>T (p.Arg307Trp)22880MORC2Uncertain significancers772692197RCV001351459; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133601431336014GA31336014-
NM_001303256.3(MORC2):c.918G>A (p.Ala306=)22880MORC2Likely benign-1RCV002076308; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133601531336015CT31336015-
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)22880MORC2Uncertain significancers554250414RCV001053571; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133601631336016GA22:g.31336016G>A-
NM_001303256.3(MORC2):c.916G>A (p.Ala306Thr)22880MORC2Uncertain significance-1RCV001903344; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133601731336017CT31336017-
NM_001303256.3(MORC2):c.905-3C>T22880MORC2Uncertain significancers776944473RCV001316705; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133603131336031GA31336031-
NM_001303256.3(MORC2):c.905-8G>T22880MORC2Likely benign-1RCV001414420; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133603631336036CA31336036-
NM_001303256.3(MORC2):c.905-10T>G22880MORC2Uncertain significancers372985596RCV001349130; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133603831336038AC31336038-
NM_001303256.3(MORC2):c.904+7C>G22880MORC2Likely benign-1RCV001488097; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133673831336738GC31336738-
NM_001303256.3(MORC2):c.898A>C (p.Arg300=)22880MORC2Likely benign-1RCV001405744; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133675131336751TG31336751-
NM_001303256.3(MORC2):c.894A>G (p.Val298=)22880MORC2Benignrs562612569RCV000951893|RCV001644865; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133675531336755TC22:g.31336755T>C-
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu)22880MORC2Uncertain significancers772766261RCV000652694; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133675731336757CG22:g.31336757C>GClinGen:CA411240663C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.891C>T (p.His297=)22880MORC2Likely benign-1RCV001411706; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133675831336758GA31336758-
NM_001303256.3(MORC2):c.870G>A (p.Gln290=)22880MORC2Likely benignrs766060409RCV000537428; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133677931336779CT22:g.31336779C>TClinGen:CA10187139C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.864G>A (p.Ala288=)22880MORC2Likely benign-1RCV001444422; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133678531336785CT31336785-
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)22880MORC2Uncertain significancers1482880426RCV001223836; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133680131336801CT22:g.31336801C>T-
NM_001303256.3(MORC2):c.840G>A (p.Thr280=)22880MORC2Likely benign-1RCV002095093; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133680931336809CT31336809-
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met)22880MORC2Uncertain significancers764379949RCV000652691; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133681031336810GA22:g.31336810G>AClinGen:CA10187142C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.834G>A (p.Lys278=)22880MORC2Likely benign-1RCV002173984; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133681531336815CT31336815-
NM_001303256.3(MORC2):c.828G>A (p.Met276Ile)22880MORC2Uncertain significancers1235679626RCV001238631; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133682131336821CT22:g.31336821C>T-
NM_001303256.3(MORC2):c.825-3C>A22880MORC2Uncertain significance-1RCV001957874; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133682731336827GT31336827-
NM_001303256.3(MORC2):c.825-7T>C22880MORC2Likely benign-1RCV001444982; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133683131336831AG31336831-
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe)22880MORC2Uncertain significancers987083509RCV000652684; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133742931337429TANC_000022.10:g.31337429T>AClinGen:CA323278084C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.804C>A (p.Ser268=)22880MORC2Likely benign-1RCV001418540; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133744031337440GT31337440-
NM_001303256.3(MORC2):c.802T>C (p.Ser268Pro)22880MORC2Uncertain significancers2040740411RCV001342749; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133744231337442AG31337442-
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg)22880MORC2Uncertain significancers1555939986RCV000652688; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133744431337444AC22:g.31337444A>CClinGen:CA411241139C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.798G>C (p.Arg266Ser)22880MORC2Pathogenic/Likely pathogenicrs1064796495RCV000479173|RCV001856876; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133744631337446CG22:g.31337446C>GClinGen:CA16621096CN517202 not provided;
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)22880MORC2Uncertain significancers1064796495RCV000816128; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133744631337446CA22:g.31337446C>A-
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu)22880MORC2Uncertain significancers368260550RCV000652675; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133746831337468CT22:g.31337468C>TClinGen:CA10187171C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.774T>C (p.His258=)22880MORC2Likely benignrs747931761RCV000652701; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133747031337470AG22:g.31337470A>GClinGen:CA10187172C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.768C>T (p.Phe256=)22880MORC2Likely benign-1RCV002118338; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133747631337476GA31337476-
NM_001303256.3(MORC2):c.760A>C (p.Arg254=)22880MORC2Likely benign-1RCV001479899; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133748431337484TG31337484-
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)22880MORC2Pathogenicrs864309503RCV000202547|RCV000624201|RCV000857122|RCV000857123|RCV001091566; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0018894,MedGen:C0393541, Orphanet:53739|MedGen:CN517202223133749031337490GANC_000022.10:g.31337490G>AClinGen:CA249695,UniProtKB:Q9Y6X9#VAR_076458,OMIM:616661.0001C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys)22880MORC2Uncertain significancers1355363942RCV000857124|RCV001209097; NMONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133750131337501TC22:g.31337501T>C-
NM_001303256.3(MORC2):c.732C>T (p.Ala244=)22880MORC2Likely benignrs371351399RCV000543584; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133751231337512GA22:g.31337512G>AClinGen:CA10187174C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.717G>A (p.Ser239=)22880MORC2Likely benign-1RCV001418419; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133752731337527CT31337527-
NM_001303256.3(MORC2):c.713G>A (p.Arg238His)22880MORC2Uncertain significancers367766290RCV000652678; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133753131337531CT22:g.31337531C>TClinGen:CA10187179C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.713G>T (p.Arg238Leu)22880MORC2Uncertain significance-1RCV001374073; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133753131337531CA31337531-
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys)22880MORC2Uncertain significancers371713427RCV000624421|RCV000706478; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133753231337532GA22:g.31337532G>AClinGen:CA10187180C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.712C>A (p.Arg238Ser)22880MORC2Uncertain significancers371713427RCV001344012|RCV001776208; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133753231337532GT31337532-
NM_001303256.3(MORC2):c.709C>T (p.Arg237Trp)22880MORC2Uncertain significance-1RCV001371048; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133753531337535GA31337535-
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly)22880MORC2Likely pathogenicrs886037934RCV000240855|RCV000857125; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166223133753731337537TC22:g.31337537T>CClinGen:CA10586383,UniProtKB:Q9Y6X9#VAR_076456,OMIM:616661.0003C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.704del (p.Pro235fs)22880MORC2Uncertain significancers2040742194RCV001307684; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133754031337540TGT31337539-
NM_001303256.3(MORC2):c.700A>G (p.Lys234Glu)22880MORC2Uncertain significancers199928683RCV001298351; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133754431337544TC31337544-
NM_001303256.3(MORC2):c.699-10C>A22880MORC2Likely benign-1RCV002076296; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133755531337555GT31337555-
NM_001303256.3(MORC2):c.699-20T>C22880MORC2Benignrs78973434RCV001685347|RCV002069526; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133756531337565AG31337565-
NM_001303256.3(MORC2):c.698+20G>T22880MORC2Likely benign-1RCV002098036; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133785831337858CA31337858-
NM_001303256.3(MORC2):c.684G>A (p.Thr228=)22880MORC2Likely benignrs534900451RCV000918983; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133789231337892CT22:g.31337892C>T-
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)22880MORC2Uncertain significancers774960940RCV001048067; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133789331337893GA22:g.31337893G>A-
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)22880MORC2Uncertain significancers893153652RCV000697345; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133790431337904CANC_000022.10:g.31337904C>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)22880MORC2Uncertain significancers375266158RCV000795809; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133792731337927TC22:g.31337927T>C-
NM_001303256.3(MORC2):c.648A>T (p.Ile216=)22880MORC2Likely benign-1RCV002128265; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133792831337928TA31337928-
NM_001303256.3(MORC2):c.642A>G (p.Leu214=)22880MORC2Likely benign-1RCV001481581; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133793431337934TC31337934-
NM_001303256.3(MORC2):c.633G>C (p.Glu211Asp)22880MORC2Uncertain significance-1RCV001937958; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133794331337943CG31337943-
NM_001303256.3(MORC2):c.627T>C (p.Asn209=)22880MORC2Likely benign-1RCV001490584; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133794931337949AG31337949-
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)22880MORC2Benignrs76273991RCV000544977; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133795031337950TC22:g.31337950T>CClinGen:CA10187202C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.624T>C (p.Asp208=)22880MORC2Likely benign-1RCV002095551; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133795231337952AG31337952-
NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)22880MORC2Likely benign-1RCV002136071; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133797831337978TC31337978-
NM_001303256.3(MORC2):c.595G>A (p.Val199Met)22880MORC2Uncertain significance-1RCV001372995; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133798131337981CT31337981-
NM_001303256.3(MORC2):c.587-20A>G22880MORC2Likely benign-1RCV002098685; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133800931338009TC31338009-
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)22880MORC2Uncertain significancers751813402RCV001231244; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133810031338100GA22:g.31338100G>A-
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr)22880MORC2Uncertain significancers1555940315RCV000652676; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133811931338119AG22:g.31338119A>GClinGen:CA411243460C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.564T>G (p.Phe188Leu)22880MORC2Uncertain significancers1569195312RCV001303828; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133812131338121AC31338121-
NM_001303256.3(MORC2):c.562T>A (p.Phe188Ile)22880MORC2Uncertain significance-1RCV002016453; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133812331338123AT31338123-
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)22880MORC2Uncertain significancers750265510RCV000818196; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133814431338144CT22:g.31338144C>T-
NM_001303256.3(MORC2):c.539C>G (p.Thr180Ser)22880MORC2Uncertain significance-1RCV001999083; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133814631338146GC31338146-
NM_001303256.3(MORC2):c.536G>A (p.Arg179His)22880MORC2Uncertain significancers541114863RCV000652686; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133814931338149CTNC_000022.10:g.31338149C>TClinGen:CA10187230C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.530C>T (p.Pro177Leu)22880MORC2Uncertain significance-1RCV002011056; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133815531338155GA31338155-
NM_001303256.3(MORC2):c.522G>A (p.Lys174=)22880MORC2Likely benign-1RCV001474593|RCV001726565; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223133816331338163CT31338163-
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)22880MORC2Uncertain significancers144248516RCV001035925; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133816731338167TG22:g.31338167T>G-
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)22880MORC2Uncertain significancers1457131129RCV001234480; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133817631338176TC22:g.31338176T>C-
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)22880MORC2Uncertain significancers1602491814RCV000819439; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133819231338192AG22:g.31338192A>G-
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp)22880MORC2Benignrs186458188RCV000556140; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133819631338196CA22:g.31338196C>AClinGen:CA10187234C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.483T>C (p.Asn161=)22880MORC2Likely benign-1RCV001471576; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133820231338202AG31338202-
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)22880MORC2Uncertain significancers1316437948RCV001229651; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133820431338204TG22:g.31338204T>G-
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)22880MORC2Uncertain significancers370868047RCV001041810; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133821531338215GC22:g.31338215G>C-
NM_001303256.3(MORC2):c.465G>A (p.Arg155=)22880MORC2Likely benign-1RCV002076942; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133822031338220CT31338220-
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)22880MORC2Uncertain significancers768748502RCV001053889; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133822731338227CT22:g.31338227C>T-
NM_001303256.3(MORC2):c.457C>T (p.Arg153Trp)22880MORC2Uncertain significance-1RCV002050748; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133822831338228GA31338228-
NM_001303256.3(MORC2):c.427-4A>G22880MORC2Likely benignrs749183153RCV000550212|RCV001447869; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223133826231338262TC22:g.31338262T>CClinGen:CA10187248C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.426+58C>T22880MORC2Uncertain significance-1RCV001809067; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134227031342270GA31342270-
NM_001303256.3(MORC2):c.426+13A>G22880MORC2Benign-1RCV002180970; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134231531342315TC31342315-
NM_001303256.3(MORC2):c.426+8C>A22880MORC2Likely benign-1RCV002194876; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134232031342320GT31342320-
NM_001303256.3(MORC2):c.405T>C (p.His135=)22880MORC2Likely benignrs144582460RCV000877231|RCV001088115; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134234931342349AG22:g.31342349A>G-
NM_001303256.3(MORC2):c.399G>A (p.Thr133=)22880MORC2Likely benignrs141171446RCV000652700; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134235531342355CT22:g.31342355C>TClinGen:CA10187269C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)22880MORC2Uncertain significancers1602496057RCV000820512; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134235931342359CA22:g.31342359C>A-
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)22880MORC2Conflicting interpretations of pathogenicityrs1064795559RCV000480527|RCV000818851|RCV000991213|RCV001281382|RCV001374919; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768||MONDO:MONDO:0030835,MedGen:C5436781,OMIM:619090|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926223134236031342360GANC_000022.10:g.31342360G>AClinGen:CA16621097,OMIM:616661.0007CN517202 not provided;
NM_001303256.3(MORC2):c.378C>G (p.Thr126=)22880MORC2Benign-1RCV001518491|RCV001647312; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223134237631342376GC31342376-
NM_001303256.3(MORC2):c.366A>G (p.Glu122=)22880MORC2Likely benign-1RCV002162188; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134238831342388TC31342388-
NM_001303256.3(MORC2):c.361A>G (p.Lys121Glu)22880MORC2Uncertain significancers2040816732RCV001345115; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134239331342393TC31342393-
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala)22880MORC2Uncertain significancers748216749RCV000652681; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134239931342399TC22:g.31342399T>CClinGen:CA10187279C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.354C>T (p.Phe118=)22880MORC2Likely benign-1RCV001435852; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134240031342400GA31342400-
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)22880MORC2Uncertain significancers2040817042RCV001212037; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134240731342407AG22:g.31342407A>G-
NM_001303256.3(MORC2):c.342T>C (p.Asp114=)22880MORC2Likely benignrs770837363RCV000882151; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134241231342412AG22:g.31342412A>G-
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys)22880MORC2Conflicting interpretations of pathogenicityrs2040817364RCV001280716|RCV001333922; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134242631342426GA22:g.31342426G>A-
NM_001303256.3(MORC2):c.318-9C>G22880MORC2Likely benign-1RCV001423523; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134244531342445GC31342445-
NM_001303256.3(MORC2):c.317+19T>C22880MORC2Likely benign-1RCV002081820; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134571931345719AG31345719-
NM_001303256.3(MORC2):c.317+7A>C22880MORC2Likely benignrs775495530RCV000937746|RCV001426125; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134573131345731TG22:g.31345731T>G-
NM_001303256.3(MORC2):c.309G>A (p.Gly103=)22880MORC2Likely benignrs372357681RCV000902782; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134574631345746CT22:g.31345746C>T-
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=)22880MORC2Likely benignrs777775099RCV000529598; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134575531345755GA22:g.31345755G>AClinGen:CA10187298C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.286C>G (p.Gln96Glu)22880MORC2Conflicting interpretations of pathogenicityrs749060708RCV000658937|RCV001724119; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134576931345769GC22:g.31345769G>C-CN517202 not provided;
NM_001303256.3(MORC2):c.276T>C (p.Pro92=)22880MORC2Likely benignrs142640132RCV000534933; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134577931345779AGNC_000022.10:g.31345779A>GClinGen:CA10187300C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)22880MORC2Likely pathogenicrs1602499659RCV000857312; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134579231345792GA22:g.31345792G>A-
NM_001303256.3(MORC2):c.261G>A (p.Ser87=)22880MORC2Likely benignrs768689490RCV000916369|RCV002065889; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134579431345794CT22:g.31345794C>T-
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)22880MORC2Pathogenicrs864309504RCV000202460|RCV000522454|RCV000857126|RCV001255406; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220, Orphanet:166|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Hu223134579531345795GA22:g.31345795G>AClinGen:CA251315,UniProtKB:Q9Y6X9#VAR_076454,OMIM:616661.0002C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn)22880MORC2Uncertain significancers150980372RCV000652685; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134579731345797CG22:g.31345797C>GClinGen:CA10187301C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)22880MORC2Uncertain significancers2040863533RCV001231221; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134581631345816CT22:g.31345816C>T-
NM_001303256.3(MORC2):c.238A>G (p.Ser80Gly)22880MORC2Uncertain significance-1RCV002013967; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134581731345817TC31345817-
NM_001303256.3(MORC2):c.234T>G (p.Ala78=)22880MORC2Benign/Likely benignrs140792905RCV000559365|RCV001591290; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223134582131345821AC22:g.31345821A>CClinGen:CA10187303C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)22880MORC2Uncertain significancers762809030RCV000694767; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134582831345828CT22:g.31345828C>T-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.227-5T>C22880MORC2Uncertain significancers763643471RCV001071351; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134583331345833AG22:g.31345833A>G-
NM_001303256.3(MORC2):c.227-8C>T22880MORC2Likely benign-1RCV001443049; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134583631345836GA31345836-
NM_001303256.3(MORC2):c.227-15T>C22880MORC2Likely benign-1RCV002192817; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134584331345843AG31345843-
NM_001303256.3(MORC2):c.226+18T>C22880MORC2Benign/Likely benignrs114021247RCV001587316|RCV002069521; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134634531346345AG31346345-
NM_001303256.3(MORC2):c.226+12G>A22880MORC2Likely benign-1RCV002202478; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134635131346351CT31346351-
NM_001303256.3(MORC2):c.226+9T>A22880MORC2Likely benign-1RCV002146969; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134635431346354AT31346354-
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly)22880MORC2Uncertain significancers1555942389RCV000530209; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134636831346368TCNC_000022.10:g.31346368T>CClinGen:CA411246069C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.190C>G (p.Leu64Val)22880MORC2Uncertain significance-1RCV001893142; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134639931346399GC31346399-
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)22880MORC2Conflicting interpretations of pathogenicityrs748092969RCV000705875|RCV001572125; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223134640231346402TA22:g.31346402T>A-C4225243 616688 Charcot-Marie-Tooth disease, axonal, type 2z;
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)22880MORC2Uncertain significancers781481050RCV001243594; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134641331346413CT22:g.31346413C>T-
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)22880MORC2Uncertain significancers760345377RCV000798700; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134641731346417GC22:g.31346417G>C-
NM_001303256.3(MORC2):c.164G>A (p.Arg55Gln)22880MORC2Uncertain significancers574524678RCV001314220; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134642531346425CT31346425-
NM_001303256.3(MORC2):c.158-3C>T22880MORC2Uncertain significance-1RCV001957800; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134643431346434GA31346434-
NM_001303256.3(MORC2):c.158-5T>G22880MORC2Uncertain significancers764556739RCV001227413; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134643631346436AC22:g.31346436A>C-
NM_001303256.3(MORC2):c.158-5T>C22880MORC2Likely benign-1RCV002112107; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134643631346436AG31346436-
NM_001303256.3(MORC2):c.158-10T>G22880MORC2Uncertain significance-1RCV001885563; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134644131346441AC31346441-
NM_001303256.3(MORC2):c.158-12del22880MORC2Benign-1RCV001667816|RCV002073167; NMedGen:CN517202|MONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134644331346443AGA31346442-
NM_001303256.3(MORC2):c.158-19G>A22880MORC2Likely benign-1RCV002097767; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223134645031346450CT31346450-
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=)22880MORC2Likely benignrs566259942RCV000928701; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135275331352753AG22:g.31352753A>G-
NM_001303256.3(MORC2):c.129T>C (p.Ala43=)22880MORC2Likely benign-1RCV002177122; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135277731352777AG31352777-
NM_001303256.3(MORC2):c.126T>C (p.Asp42=)22880MORC2Likely benign-1RCV001448470; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135278031352780AG31352780-
NM_001303256.3(MORC2):c.123-6T>C22880MORC2Likely benign-1RCV001468213; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135278931352789AG31352789-
NM_001303256.3(MORC2):c.96C>T (p.Ala32=)22880MORC2Benign-1RCV001510112|RCV001712915; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202223135465331354653GA31354653-
NM_001303256.3(MORC2):c.78C>T (p.His26=)22880MORC2Likely benign-1RCV001473341; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135467131354671GA31354671-
NM_001303256.3(MORC2):c.69-7A>G22880MORC2Likely benign-1RCV002090788; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135468731354687TC31354687-
NM_001303256.3(MORC2):c.69-14A>G22880MORC2Likely benign-1RCV002171090; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135469431354694TC31354694-
NM_001303256.3(MORC2):c.69-16G>A22880MORC2Likely benign-1RCV002177710; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135469631354696CT31354696-
NM_001303256.3(MORC2):c.69-18T>C22880MORC2Likely benign-1RCV002180460; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223135469831354698AG31354698-
NM_001303256.3(MORC2):c.68+19C>T22880MORC2Likely benign-1RCV002170204; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223136378931363789GA31363789-
NM_001303256.3(MORC2):c.63A>G (p.Thr21=)22880MORC2Benign/Likely benignrs73156742RCV000945054|RCV001619862|RCV001701367; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768|MedGen:CN517202|MedGen:CN169374223136381331363813TC22:g.31363813T>C-
NM_001303256.3(MORC2):c.18C>T (p.Tyr6=)22880MORC2Likely benign-1RCV001482887; NMONDO:MONDO:0014736,MedGen:C4225243,OMIM:616688, Orphanet:466768223136385831363858GA31363858-
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