CMTDIB
MCID: CHR422
MIFTS: 46

Charcot-Marie-Tooth Disease, Dominant Intermediate B (CMTDIB)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate B

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate B 56 29 6 71
Cmtdib 56 12 58 73
Di-Cmtb 56 12 73
Cmtdi1 56 12 73
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B 12 73
Charcot-Marie-Tooth Disease Dominant Intermediate B 12 15
Charcot-Marie-Tooth Disease, Type 2m 29 6
Cmt2m 58 73
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 58
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m 73
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B 73
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B 39
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 56
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2m 73
Charcot-Marie-Tooth Disease, Axonal, Type 2m 13
Charcot-Marie-Tooth Disease, Axonal Type 2m 56
Charcot-Marie-Tooth Disease Axonal Type 2m 73
Charcot-Marie-Tooth Disease 2m 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2m
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade
begins in feet and legs (peroneal distribution)
features intermediate between demyelinating cmt and axonal cmt
some families have axonal cmt (cmt2m)
genetic heterogeneity (see cmtdia, )


HPO:

31
charcot-marie-tooth disease, dominant intermediate b:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110197
OMIM 56 606482
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1847902
UMLS 71 C1847902

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate B

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 2M: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, dominant, intermediate type, B: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate B, also known as cmtdib, is related to charcot-marie-tooth disease, axonal, type 2p and charcot-marie-tooth disease, dominant intermediate a. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate B is DNM2 (Dynamin 2), and among its related pathways/superpathways are Vesicle-mediated transport and Remodeling of Adherens Junctions. Related phenotypes are segmental peripheral demyelination and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in mutation in the gene encoding dynamin-2 (DNM2).

OMIM : 56 Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. (606482)

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 74, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2p 31.9 LITAF GDAP1
2 charcot-marie-tooth disease, dominant intermediate a 31.2 YARS1 MPZ GJB1 GDAP1 DNM2
3 myopathy, centronuclear, x-linked 10.4 MTM1 DNM2
4 myopathy, centronuclear, 1 10.3 MTM1 DNM2
5 central core myopathy 10.3 MTM1 DNM2
6 argyll robertson pupil 10.2 MPZ GDAP1
7 abnormal pupillary function 10.2 MPZ GDAP1
8 pupil disease 10.2 MPZ GDAP1
9 neuropathy, hereditary motor and sensory, russe type 10.2 SH3TC2 GDAP1
10 early-onset glaucoma 10.2 SBF2 MTMR2 MTM1
11 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ GDAP1
12 charcot-marie-tooth disease, axonal, type 2n 10.2 YARS1 GDAP1
13 charcot-marie-tooth disease, axonal, type 2b2 10.1 MPZ GDAP1
14 charcot-marie-tooth disease, dominant intermediate d 10.1 YARS1 MPZ DNM2
15 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
16 mononeuropathy 10.1 SH3TC2 MPZ
17 charcot-marie-tooth disease, type 4k 10.1 SH3TC2 LITAF
18 charcot-marie-tooth disease x-linked recessive 4 10.1 MPZ GJB1
19 nerve compression syndrome 10.1 SH3TC2 MPZ
20 autoimmune peripheral neuropathy 10.1 MPZ GJB1
21 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
22 yunis-varon syndrome 10.0 SBF2 MTMR2
23 charcot-marie-tooth disease, axonal, type 2cc 10.0 MPZ GJB1
24 hereditary neuropathies 9.9 MTMR2 MPZ GJB1
25 charcot-marie-tooth disease, axonal, type 2q 9.9 MPZ GJB1
26 charcot-marie-tooth disease, type 4b3 9.9 SH3TC2 SBF2 MTMR2 GDAP1
27 charcot-marie-tooth disease, dominant intermediate c 9.8 YARS1 MPZ GDAP1 DNM2
28 corneal dystrophy, fleck 9.8 SBF2 MTMR2
29 charcot-marie-tooth disease, axonal, type 2l 9.8 RAB7A MPZ GDAP1
30 charcot-marie-tooth disease, x-linked recessive, 2 9.7 MPZ LITAF GJB1
31 charcot-marie-tooth disease, axonal, type 2f 9.7 MTMR2 MPZ GJB1 GDAP1
32 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 9.7 RAB7B RAB7A
33 charcot-marie-tooth disease, axonal, type 2j 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1
34 charcot-marie-tooth disease, type 4h 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1
35 charcot-marie-tooth disease, axonal, type 2d 9.6 YARS1 MPZ GJB1 GDAP1
36 cataract 8, multiple types 9.5 RAB7B RAB7A DNM2
37 motor peripheral neuropathy 9.5 SH3TC2 LITAF GJB1 GDAP1
38 charcot-marie-tooth disease, dominant intermediate e 9.5 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
39 charcot-marie-tooth disease type x 9.4 SH3TC2 MTMR2 MPZ GJB1 GDAP1
40 hereditary sensory and autonomic neuropathy type 1 9.4 SH3TC2 RAB7A LITAF GDAP1
41 pontocerebellar hypoplasia, type 2e 9.4 RAB7B RAB7A
42 centronuclear myopathy 9.4 SBF2 PLEK MTMR2 MTM1 DNM2 DNM1
43 charcot-marie-tooth disease, demyelinating, type 1d 9.3 MTMR2 MPZ LITAF GJB1 GDAP1
44 charcot-marie-tooth disease type 2a2 9.3 SH3TC2 MPZ LITAF GJB1 GDAP1
45 charcot-marie-tooth disease, axonal, type 2i 9.3 SH3TC2 MPZ LITAF GJB1 GDAP1
46 neuropathy, hereditary sensory and autonomic, type iia 9.2 SH3TC2 RAB7B LITAF GDAP1
47 charcot-marie-tooth disease, type 4a 9.2 SH3TC2 SBF2 MTMR2 MPZ GJB1 GDAP1
48 polyneuropathy 9.2 SH3TC2 MPZ LITAF GJB1 GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1f 9.1 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
50 charcot-marie-tooth disease, x-linked dominant, 1 9.1 SH3TC2 MTMR2 MPZ LITAF GJB1 GDAP1
51 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 8.9 YARS1 SH3TC2 RAB7A MPZ GJB1 GDAP1
52 charcot-marie-tooth disease, type 4b1 8.9 SH3TC2 SBF2 MTMR2 MTM1 MPZ LITAF
53 charcot-marie-tooth disease, demyelinating, type 4f 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
54 charcot-marie-tooth disease, type 4c 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
55 charcot-marie-tooth disease, type 4d 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
56 charcot-marie-tooth disease, demyelinating, type 1a 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
57 charcot-marie-tooth disease, demyelinating, type 1b 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
58 neuropathy, hereditary, with liability to pressure palsies 8.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
59 hypertrophic neuropathy of dejerine-sottas 8.8 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
60 sensory peripheral neuropathy 8.7 SH3TC2 SBF2 MTMR2 MTM1 MPZ LITAF
61 neuropathy 8.6 SH3TC2 SBF2 RAB7A MTMR2 MPZ GJB1
62 hereditary motor and sensory neuropathy, type iic 8.6 SH3TC2 RAB7B RAB7A MPZ GJB1 GDAP1
63 charcot-marie-tooth disease, type 4j 8.4 SH3TC2 SBF2 RAB7B RAB7A MTMR2 LITAF
64 peripheral nervous system disease 8.0 SH3TC2 SBF2 RAB7A MTMR2 MTM1 MPZ
65 charcot-marie-tooth disease, type 4b2 8.0 SH3TC2 SBF2 RAB7A MTMR2 MTM1 MPZ
66 tooth disease 8.0 YARS1 SH3TC2 SBF2 RAB7A MTMR2 MPZ
67 charcot-marie-tooth disease intermediate type 7.9 YARS1 SH3TC2 SBF2 PLEK MTMR2 MTM1
68 charcot-marie-tooth disease, demyelinating, type 1c 7.8 SH3TC2 SBF2 RAB7B RAB7A MTMR2 MPZ
69 charcot-marie-tooth disease, axonal, type 2b 7.6 SH3TC2 SBF2 RAB7B RAB7A MTMR2 MPZ
70 charcot-marie-tooth disease and deafness 7.3 YARS1 SH3TC2 SBF2 RAB7B RAB7A MTMR2
71 neuromuscular disease 7.2 YARS1 SH3TC2 SBF2 RAB7B RAB7A MTMR2
72 charcot-marie-tooth disease, axonal, type 2e 7.2 YARS1 SH3TC2 SBF2 RAB7B RAB7A MTMR2
73 neuropathy, congenital hypomyelinating, 1, autosomal recessive 6.5 YARS1 SH3TC2 SBF2 RAB7B RAB7A PLEK
74 charcot-marie-tooth disease 6.1 YARS1 SH3TC2 SBF2 RAB7B RAB7A PLEK

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 segmental peripheral demyelination 31 occasional (7.5%) HP:0007107
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 hyporeflexia 31 HP:0001265
5 distal amyotrophy 31 HP:0003693
6 distal muscle weakness 31 HP:0002460
7 segmental peripheral demyelination/remyelination 31 HP:0003481
8 distal sensory impairment 31 HP:0002936
9 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
10 onion bulb formation 31 HP:0003383
11 axonal degeneration 31 HP:0040078
12 peripheral axonal degeneration 31 HP:0000764

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal degeneration
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

606482

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 DNM1 DNM2 GDAP1 GJB1 LITAF MPZ

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Dominant Intermediate B 29 DNM2
2 Charcot-Marie-Tooth Disease, Type 2m 29

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Articles related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

(showing 13, show less)
# Title Authors PMID Year
1
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 6 56
19502294 2009
2
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 6 56
18560793 2008
3
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 6 56
17636067 2007
4
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 6 56
15731758 2005
5
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 56
28364294 2017
6
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy 6
20614582 2010
7
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. 56
12761657 2003
8
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 56
12481986 2002
9
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. 56
11533912 2001
10
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
11
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 56
752065 1978
12
Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation. 56
4855423 1974
13
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 61
26842864 2016

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNM2 DNM2, 9-BP DEL, NT1652deletion Pathogenic 7276
2 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)SNV Pathogenic 7279 rs121909089 19:10904509-10904509 19:10793833-10793833
3 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832
4 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)SNV Pathogenic 7281 rs121909091 19:10909219-10909219 19:10798543-10798543
5 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
6 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)SNV Pathogenic 158514 rs587783595 19:10922947-10922947 19:10812271-10812271
7 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)SNV Pathogenic/Likely pathogenic 7285 rs121909095 19:10934538-10934538 19:10823862-10823862
8 DNM2 NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg)SNV Pathogenic/Likely pathogenic 7287 rs267606772 19:10904475-10904475 19:10793799-10793799
9 DNM2 NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys)SNV Likely pathogenic 218920 rs864309705 19:10904424-10904424 19:10793748-10793748
10 DNM2 NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser)SNV Likely pathogenic 246295 rs121909093 19:10922991-10922991 19:10812315-10812315
11 DNM2 NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp)SNV Likely pathogenic 465283 rs1555715869 19:10934535-10934535 19:10823859-10823859
12 DNM2 NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)SNV Likely pathogenic 580216 19:10913004-10913004 19:10802328-10802328
13 DNM2 NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala)SNV Conflicting interpretations of pathogenicity 465284 rs777609224 19:10939884-10939884 19:10829208-10829208
14 DNM2 NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)SNV Conflicting interpretations of pathogenicity 327980 rs201575500 19:10909210-10909210 19:10798534-10798534
15 DNM2 NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)SNV Conflicting interpretations of pathogenicity 327984 rs201604679 19:10930757-10930757 19:10820081-10820081
16 DNM2 NM_001005360.2(DNM2):c.633C>T (p.Asp211=)SNV Conflicting interpretations of pathogenicity 327976 rs200191870 19:10887837-10887837 19:10777161-10777161
17 DNM2 NM_001005360.2(DNM2):c.1782-7C>ASNV Conflicting interpretations of pathogenicity 379457 rs200843089 19:10934457-10934457 19:10823781-10823781
18 DNM2 NM_001005360.2(DNM2):c.1782-4G>CSNV Conflicting interpretations of pathogenicity 390439 rs767424969 19:10934460-10934460 19:10823784-10823784
19 DNM2 NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn)SNV Conflicting interpretations of pathogenicity 246522 rs375151459 19:10883235-10883235 19:10772559-10772559
20 DNM2 NM_001005360.2(DNM2):c.528C>T (p.Pro176=)SNV Conflicting interpretations of pathogenicity 327975 rs147579870 19:10886521-10886521 19:10775845-10775845
21 DNM2 NM_001005360.2(DNM2):c.216G>A (p.Gln72=)SNV Conflicting interpretations of pathogenicity 195104 rs368075301 19:10870468-10870468 19:10759792-10759792
22 DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766
23 DNM2 NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys)SNV Conflicting interpretations of pathogenicity 7283 rs121909093 19:10922991-10922991 19:10812315-10812315
24 DNM2 NM_001005360.2(DNM2):c.1709T>A (p.Leu570His)SNV Conflicting interpretations of pathogenicity 7284 rs121909094 19:10930693-10930693 19:10820017-10820017
25 DNM2 NM_001005360.2(DNM2):c.822G>A (p.Thr274=)SNV Conflicting interpretations of pathogenicity 158528 rs201763720 19:10893769-10893769 19:10783093-10783093
26 DNM2 NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)SNV Conflicting interpretations of pathogenicity 158529 rs150613209 19:10897348-10897348 19:10786672-10786672
27 DNM2 NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp)SNV Uncertain significance 133980 rs587778235 19:10897258-10897258 19:10786582-10786582
28 DNM2 NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)SNV Uncertain significance 234708 rs876661176 19:10904454-10904454 19:10793778-10793778
29 DNM2 NM_001005360.2(DNM2):c.890G>A (p.Arg297His)SNV Uncertain significance 327977 rs763894364 19:10897280-10897280 19:10786604-10786604
30 DNM2 NM_001005360.2(DNM2):c.839C>T (p.Thr280Met)SNV Uncertain significance 246310 rs202155679 19:10893786-10893786 19:10783110-10783110
31 DNM2 NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met)SNV Uncertain significance 245878 rs879253980 19:10906813-10906813 19:10796137-10796137
32 DNM2 NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys)SNV Uncertain significance 246008 rs772920450 19:10935808-10935808 19:10825132-10825132
33 DNM2 NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn)SNV Uncertain significance 246533 rs879254300 19:10939929-10939929 19:10829253-10829253
34 DNM2 NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)SNV Uncertain significance 374611 rs758246840 19:10912997-10912997 19:10802321-10802321
35 DNM2 NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)SNV Uncertain significance 327987 rs142963320 19:10939832-10939832 19:10829156-10829156
36 DNM2 NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)SNV Uncertain significance 327983 rs372876881 19:10930756-10930756 19:10820080-10820080
37 DNM2 NM_001005360.2(DNM2):c.2452G>A (p.Val818Met)SNV Uncertain significance 465286 rs755608537 19:10940963-10940963 19:10830287-10830287
38 DNM2 NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg)SNV Uncertain significance 465280 rs1555712608 19:10916624-10916624 19:10805948-10805948
39 DNM2 NM_001005360.2(DNM2):c.689-3C>TSNV Uncertain significance 465291 rs373330742 19:10893633-10893633 19:10782957-10782957
40 DNM2 NM_001005360.2(DNM2):c.700G>C (p.Val234Leu)SNV Uncertain significance 465293 rs377159042 19:10893647-10893647 19:10782971-10782971
41 DNM2 NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys)SNV Uncertain significance 465285 rs1555717200 19:10940867-10940867 19:10830191-10830191
42 DNM2 NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu)SNV Uncertain significance 465287 rs1398139585 19:10941042-10941042 19:10830366-10830366
43 DNM2 NM_001005360.2(DNM2):c.481C>A (p.Leu161Met)SNV Uncertain significance 411952 rs1060503547 19:10886474-10886474 19:10775798-10775798
44 DNM2 NM_001005360.2(DNM2):c.699C>T (p.Gly233=)SNV Uncertain significance 411951 rs751844947 19:10893646-10893646 19:10782970-10782970
45 DNM2 NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys)SNV Uncertain significance 411953 rs370636702 19:10897324-10897324 19:10786648-10786648
46 DNM2 NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser)SNV Uncertain significance 424401 rs890297188 19:10828926-10828926 19:10718250-10718250
47 DNM2 NM_001005360.2(DNM2):c.850-7C>GSNV Uncertain significance 447274 rs778548382 19:10897233-10897233 19:10786557-10786557
48 DNM2 NM_001005360.2(DNM2):c.1671+3G>CSNV Uncertain significance 569740 19:10923056-10923056 19:10812380-10812380
49 DNM2 NM_001005360.2(DNM2):c.1781+6G>TSNV Uncertain significance 574188 rs1568318838 19:10930771-10930771 19:10820095-10820095
50 DNM2 NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln)SNV Uncertain significance 573851 rs1568321851 19:10935791-10935791 19:10825115-10825115
51 DNM2 NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)SNV Uncertain significance 575348 19:10939758-10939758 19:10829082-10829082
52 DNM2 NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del)deletion Uncertain significance 576404 rs752014734 19:10940922-10940924 19:10830246-10830248
53 DNM2 NM_001005360.2(DNM2):c.2544_2546delCAGshort repeat Uncertain significance 571187 rs1568325729 19:10941654-10941656 19:10830978-10830980
54 DNM2 NC_000019.9:g.(?_10828899)_(10870507_?)dupduplication Uncertain significance 584170 19:10828899-10870507 19:10718223-10759831
55 DNM2 NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)SNV Uncertain significance 580024 19:10883211-10883211 19:10772535-10772535
56 DNM2 NM_001005360.2(DNM2):c.1664_1671+1deldeletion Uncertain significance 568603 rs1568314339 19:10923046-10923054 19:10812370-10812378
57 DNM2 NM_001005360.2(DNM2):c.2041C>A (p.His681Asn)SNV Uncertain significance 577172 rs1437296623 19:10935880-10935880 19:10825204-10825204
58 DNM2 NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)SNV Uncertain significance 568530 19:10939917-10939917 19:10829241-10829241
59 DNM2 NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)SNV Uncertain significance 579555 19:10883264-10883264 19:10772588-10772588
60 DNM2 NM_001005360.2(DNM2):c.384C>T (p.His128=)SNV Uncertain significance 574489 19:10883303-10883303 19:10772627-10772627
61 DNM2 NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln)SNV Uncertain significance 575183 rs1568294706 19:10887800-10887800 19:10777124-10777124
62 DNM2 NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)SNV Uncertain significance 570727 19:10893758-10893758 19:10783082-10783082
63 DNM2 NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)SNV Uncertain significance 572060 rs1568314284 19:10922998-10922998 19:10812322-10812322
64 DNM2 NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val)SNV Uncertain significance 578274 rs1568321953 19:10935850-10935850 19:10825174-10825174
65 DNM2 NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr)SNV Uncertain significance 579218 rs1568324267 19:10939886-10939886 19:10829210-10829210
66 DNM2 NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)SNV Uncertain significance 644304 19:10828949-10828949 19:10718273-10718273
67 DNM2 NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)SNV Uncertain significance 657523 19:10870452-10870452 19:10759776-10759776
68 DNM2 NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)SNV Uncertain significance 644774 19:10883185-10883185 19:10772509-10772509
69 DNM2 NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)SNV Uncertain significance 641231 19:10886432-10886432 19:10775756-10775756
70 DNM2 NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)SNV Uncertain significance 664504 19:10886490-10886490 19:10775814-10775814
71 DNM2 NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)SNV Uncertain significance 659225 19:10887840-10887840 19:10777164-10777164
72 DNM2 NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)SNV Uncertain significance 649298 19:10887841-10887841 19:10777165-10777165
73 DNM2 NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)SNV Uncertain significance 649151 19:10887849-10887849 19:10777173-10777173
74 DNM2 NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)SNV Uncertain significance 646749 19:10887859-10887859 19:10777183-10777183
75 DNM2 NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)SNV Uncertain significance 656321 19:10893642-10893642 19:10782966-10782966
76 DNM2 NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)SNV Uncertain significance 647684 19:10893705-10893705 19:10783029-10783029
77 DNM2 NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)SNV Uncertain significance 649672 19:10893725-10893725 19:10783049-10783049
78 DNM2 NM_001005360.2(DNM2):c.812G>A (p.Arg271His)SNV Uncertain significance 650073 19:10893759-10893759 19:10783083-10783083
79 DNM2 NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)SNV Uncertain significance 647676 19:10897258-10897258 19:10786582-10786582
80 DNM2 NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)SNV Uncertain significance 647344 19:10904413-10904413 19:10793737-10793737
81 DNM2 NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)SNV Uncertain significance 641192 19:10906862-10906862 19:10796186-10796186
82 DNM2 NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)SNV Uncertain significance 645458 19:10909184-10909184 19:10798508-10798508
83 DNM2 NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)SNV Uncertain significance 652220 19:10909198-10909198 19:10798522-10798522
84 DNM2 NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)SNV Uncertain significance 653073 19:10922976-10922976 19:10812300-10812300
85 DNM2 NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)SNV Uncertain significance 657486 19:10934534-10934534 19:10823858-10823858
86 DNM2 NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)SNV Uncertain significance 644940 19:10934540-10934540 19:10823864-10823864
87 DNM2 NM_001005361.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)short repeat Uncertain significance 659360 19:10939753-10939755 19:10829077-10829079
88 DNM2 NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)SNV Uncertain significance 662938 19:10939797-10939797 19:10829121-10829121
89 DNM2 NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)SNV Uncertain significance 653294 19:10940803-10940803 19:10830127-10830127
90 DNM2 NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)SNV Uncertain significance 643376 19:10940816-10940816 19:10830140-10830140
91 DNM2 NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)SNV Uncertain significance 645283 19:10940819-10940819 19:10830143-10830143
92 DNM2 NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)SNV Uncertain significance 663051 19:10940883-10940883 19:10830207-10830207
93 DNM2 NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)SNV Uncertain significance 640060 19:10940946-10940946 19:10830270-10830270
94 DNM2 NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)SNV Uncertain significance 658967 19:10940954-10940954 19:10830278-10830278
95 DNM2 NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)SNV Uncertain significance 647074 19:10940962-10940962 19:10830286-10830286
96 DNM2 NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)SNV Uncertain significance 663455 19:10940990-10940990 19:10830314-10830314
97 DNM2 NM_001005361.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)short repeat Uncertain significance 657927 19:10941683-10941685 19:10831007-10831009
98 DNM2 NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)SNV Uncertain significance 652484 19:10941717-10941717 19:10831041-10831041
99 DNM2 NM_001005360.2(DNM2):c.2291+4C>TSNV Uncertain significance 665432 19:10939948-10939948 19:10829272-10829272
100 DNM2 NC_000019.9:g.(?_10828899)_(10897402_?)dupduplication Uncertain significance 649075 19:10828899-10897402 19:10718223-10786726
101 DNM2 NM_001005360.2(DNM2):c.1335+1G>ASNV Uncertain significance 662445 19:10906876-10906876 19:10796200-10796200
102 DNM2 NM_001005360.2(DNM2):c.1641C>A (p.Ala547=)SNV Uncertain significance 465281 rs538253489 19:10923023-10923023 19:10812347-10812347
103 DNM2 NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn)SNV Uncertain significance 465292 rs749672066 19:10893642-10893642 19:10782966-10782966
104 DNM2 NM_001005360.2(DNM2):c.177C>A (p.Arg59=)SNV Uncertain significance 533833 rs762795230 19:10870429-10870429 19:10759753-10759753
105 DNM2 NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)SNV Uncertain significance 533831 rs1555715216 19:10930702-10930702 19:10820026-10820026
106 DNM2 NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro)SNV Uncertain significance 533829 rs1253864930 19:10941008-10941008 19:10830332-10830332
107 DNM2 NM_001005360.2(DNM2):c.161+3G>ASNV Uncertain significance 533826 rs1555696272 19:10829082-10829082 19:10718406-10718406
108 DNM2 NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys)SNV Uncertain significance 533827 rs760254039 19:10897279-10897279 19:10786603-10786603
109 DNM2 NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)SNV Uncertain significance 562194 rs1568283807 19:10870449-10870449 19:10759773-10759773
110 DNM2 NM_001005360.2(DNM2):c.535A>G (p.Met179Val)SNV Uncertain significance 581147 19:10886528-10886528 19:10775852-10775852
111 DNM2 NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)SNV Uncertain significance 575548 19:10893744-10893744 19:10783068-10783068
112 DNM2 NM_001005360.2(DNM2):c.800A>G (p.His267Arg)SNV Uncertain significance 578383 rs1412618988 19:10893747-10893747 19:10783071-10783071
113 DNM2 NM_001005360.2(DNM2):c.819C>T (p.Gly273=)SNV Uncertain significance 572382 rs1464745378 19:10893766-10893766 19:10783090-10783090
114 DNM2 NM_001005360.2(DNM2):c.992+4T>CSNV Uncertain significance 571848 rs1225723240 19:10897386-10897386 19:10786710-10786710
115 DNM2 NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)SNV Uncertain significance 571093 19:10930715-10930715 19:10820039-10820039
116 DNM2 NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe)SNV Uncertain significance 578871 rs1568324227 19:10939850-10939850 19:10829174-10829174
117 DNM2 NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg)SNV Uncertain significance 583006 rs1568324385 19:10939939-10939939 19:10829263-10829263
118 DNM2 NM_001005360.2(DNM2):c.2023A>G (p.Met675Val)SNV Uncertain significance 533832 rs1555716140 19:10935862-10935862 19:10825186-10825186
119 DNM2 NM_001005360.2(DNM2):c.83A>T (p.His28Leu)SNV Uncertain significance 533830 rs774962668 19:10829001-10829001 19:10718325-10718325
120 DNM2 NM_001005360.2(DNM2):c.821C>T (p.Thr274Met)SNV Uncertain significance 533835 rs746387165 19:10893768-10893768 19:10783092-10783092
121 DNM2 NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg)SNV Uncertain significance 533828 rs1555710681 19:10906844-10906844 19:10796168-10796168
122 DNM2 NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val)SNV Uncertain significance 533834 rs753402698 19:10919251-10919251 19:10808575-10808575
123 DNM2 NM_001005360.2(DNM2):c.1782-4G>ASNV Likely benign 533841 rs767424969 19:10934460-10934460 19:10823784-10823784
124 DNM2 NM_001005360.2(DNM2):c.480C>T (p.Ile160=)SNV Likely benign 465290 rs140036663 19:10886473-10886473 19:10775797-10775797
125 DNM2 NM_001005360.2(DNM2):c.1512G>A (p.Thr504=)SNV Likely benign 533838 rs767407905 19:10916610-10916610 19:10805934-10805934
126 DNM2 NM_001005360.2(DNM2):c.1716C>A (p.Ile572=)SNV Likely benign 533840 rs776999450 19:10930700-10930700 19:10820024-10820024
127 DNM2 NM_001005360.2(DNM2):c.2136G>T (p.Ser712=)SNV Likely benign 533842 rs1555716924 19:10939789-10939789 19:10829113-10829113
128 DNM2 NM_001005360.2(DNM2):c.81C>T (p.Cys27=)SNV Likely benign 533837 rs534605878 19:10828999-10828999 19:10718323-10718323
129 DNM2 NM_001005360.2(DNM2):c.750A>G (p.Ala250=)SNV Likely benign 533839 rs202214529 19:10893697-10893697 19:10783021-10783021
130 DNM2 NM_001005360.2(DNM2):c.1095C>A (p.Ile365=)SNV Likely benign 533843 rs746959606 19:10904498-10904498 19:10793822-10793822
131 DNM2 NM_001005360.2(DNM2):c.1101C>T (p.His367=)SNV Likely benign 533836 rs768651920 19:10904504-10904504 19:10793828-10793828
132 DNM2 NM_001005360.2(DNM2):c.2562G>A (p.Ala854=)SNV Likely benign 465288 rs761141093 19:10941672-10941672 19:10830996-10830996
133 DNM2 NM_001005360.2(DNM2):c.162-6deldeletion Likely benign 511239 rs766449694 19:10870408-10870408 19:10759732-10759732
134 DNM2 NM_001005360.2(DNM2):c.1422+9C>TSNV Likely benign 377785 rs199952853 19:10909257-10909257 19:10798581-10798581
135 DNM2 NM_001005360.2(DNM2):c.648C>T (p.Ala216=)SNV Likely benign 416985 rs1060504950 19:10887852-10887852 19:10777176-10777176
136 DNM2 NM_001005360.2(DNM2):c.1377C>T (p.Ile459=)SNV Likely benign 416986 rs369345296 19:10909203-10909203 19:10798527-10798527
137 DNM2 NM_001005360.2(DNM2):c.33G>A (p.Pro11=)SNV Likely benign 465289 rs779502758 19:10828951-10828951 19:10718275-10718275
138 DNM2 NM_001005360.2(DNM2):c.177C>T (p.Arg59=)SNV Likely benign 465282 rs762795230 19:10870429-10870429 19:10759753-10759753
139 DNM2 NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)SNV Likely benign 327989 rs200968756 19:10940929-10940929 19:10830253-10830253
140 DNM2 NM_001005360.2(DNM2):c.882G>A (p.Pro294=)SNV Likely benign 256870 rs144790170 19:10897272-10897272 19:10786596-10786596
141 DNM2 NM_001005360.2(DNM2):c.2313G>A (p.Pro771=)SNV Likely benign 327988 rs147463138 19:10940824-10940824 19:10830148-10830148
142 DNM2 NM_001005360.2(DNM2):c.210T>C (p.Ile70=)SNV Likely benign 238206 rs878854149 19:10870462-10870462 19:10759786-10759786
143 DNM2 NM_001005360.2(DNM2):c.555C>T (p.Asp185=)SNV Likely benign 219703 rs140788791 19:10886548-10886548 19:10775872-10775872
144 DNM2 NM_001005360.2(DNM2):c.90C>T (p.Asp30=)SNV Likely benign 215776 rs759919549 19:10829008-10829008 19:10718332-10718332
145 DNM2 NM_001005360.2(DNM2):c.2592C>T (p.Ala864=)SNV Likely benign 215775 rs373161548 19:10941702-10941702 19:10831026-10831026
146 DNM2 NM_001005360.2(DNM2):c.2543+7C>GSNV Benign/Likely benign 158527 rs201979143 19:10941061-10941061 19:10830385-10830385
147 DNM2 NM_001005360.2(DNM2):c.162-7C>ASNV Benign/Likely benign 195103 rs148318860 19:10870407-10870407 19:10759731-10759731
148 DNM2 NM_001005360.2(DNM2):c.2160C>T (p.Asp720=)SNV Benign/Likely benign 238207 rs117598326 19:10939813-10939813 19:10829137-10829137
149 DNM2 NM_001005360.2(DNM2):c.236-8C>GSNV Benign/Likely benign 256867 rs143084059 19:10883147-10883147 19:10772471-10772471
150 DNM2 NM_001005360.2(DNM2):c.519T>C (p.Ala173=)SNV Benign/Likely benign 256869 rs77702567 19:10886512-10886512 19:10775836-10775836
151 DNM2 NM_001005360.2(DNM2):c.238C>T (p.His80Tyr)SNV Benign/Likely benign 137130 rs148790687 19:10883157-10883157 19:10772481-10772481
152 DNM2 NM_001005360.2(DNM2):c.1077C>T (p.Gly359=)SNV Benign/Likely benign 137131 rs112238216 19:10904480-10904480 19:10793804-10793804
153 DNM2 NM_001005360.2(DNM2):c.235+6A>GSNV Benign/Likely benign 158525 rs113192269 19:10870493-10870493 19:10759817-10759817
154 DNM2 NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)SNV Benign/Likely benign 158521 rs2229919 19:10935741-10935741 19:10825065-10825065
155 DNM2 NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)SNV Benign/Likely benign 133979 rs3745674 19:10893735-10893735 19:10783059-10783059
156 DNM2 NM_001005360.2(DNM2):c.386-6T>ASNV Benign/Likely benign 387548 rs114623441 19:10886373-10886373 19:10775697-10775697
157 DNM2 NM_001005360.2(DNM2):c.1782-5C>TSNV Benign/Likely benign 388525 rs200103145 19:10934459-10934459 19:10823783-10823783
158 DNM2 NM_001005360.2(DNM2):c.2511G>A (p.Arg837=)SNV Benign/Likely benign 327990 rs200100669 19:10941022-10941022 19:10830346-10830346
159 DNM2 NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)SNV Benign/Likely benign 327993 rs149825590 19:10941677-10941677 19:10831001-10831001
160 DNM2 NM_001005360.2(DNM2):c.2061G>A (p.Thr687=)SNV Benign/Likely benign 327986 rs149164657 19:10939714-10939714 19:10829038-10829038
161 DNM2 NM_001005360.2(DNM2):c.1837G>A (p.Val613Met)SNV Benign/Likely benign 447272 rs748286191 19:10934519-10934519 19:10823843-10823843
162 DNM2 NM_001005360.2(DNM2):c.2059-5C>TSNV Benign/Likely benign 509375 rs377150057 19:10939707-10939707 19:10829031-10829031
163 DNM2 NM_001005360.2(DNM2):c.1218C>T (p.Asp406=)SNV Benign/Likely benign 465279 rs563985581 19:10906758-10906758 19:10796082-10796082
164 DNM2 NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val)SNV Benign 416984 rs186762327 19:10906826-10906826 19:10796150-10796150
165 DNM2 NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn)SNV Benign 416987 rs145478270 19:10887847-10887847 19:10777171-10777171
166 DNM2 NM_001005360.2(DNM2):c.2484G>A (p.Pro828=)SNV Benign 158526 rs114682382 19:10940995-10940995 19:10830319-10830319

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

73 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 DNM2 p.Lys562Glu VAR_031967 rs121909088
2 DNM2 p.Gly537Cys VAR_062574 rs121909093
3 DNM2 p.Leu570His VAR_062575 rs121909094
4 DNM2 p.Gly358Arg VAR_068425 rs267606772

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate B.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate B

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Cellular components related to Charcot-Marie-Tooth Disease, Dominant Intermediate B according to GeneCards Suite gene sharing:

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.15 YARS1 SBF2 RAB7A PLEK MTMR2 MTM1
2 cytoplasmic vesicle GO:0031410 9.83 SH3TC2 RAB7B RAB7A DNM2 DNM1
3 axon GO:0030424 9.78 SBF2 MTMR2 DNM2 DNM1
4 lysosome GO:0005764 9.76 RAB7B RAB7A MPZ LITAF
5 dendritic spine GO:0043197 9.7 MTMR2 DNM2 DNM1
6 late endosome GO:0005770 9.67 RAB7B RAB7A MTM1
7 late endosome membrane GO:0031902 9.58 RAB7B RAB7A LITAF
8 vacuolar membrane GO:0005774 9.51 SBF2 MTMR2
9 endosome membrane GO:0010008 9.46 SBF2 RAB7A MTMR2 LITAF
10 phagocytic vesicle membrane GO:0030670 9.43 RAB7B RAB7A DNM2
11 dendritic spine head GO:0044327 9.32 DNM2 DNM1
12 endosome GO:0005768 9.17 SBF2 RAB7B RAB7A MTMR2 MTM1 LITAF
13 postsynaptic endocytic zone membrane GO:0098844 8.96 DNM2 DNM1

Biological processes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol metabolic process GO:0046488 9.46 PLEK MTMR2
2 phosphatidylinositol dephosphorylation GO:0046856 9.43 MTMR2 MTM1
3 G protein-coupled receptor internalization GO:0002031 9.4 DNM2 DNM1
4 regulation of synapse structure or activity GO:0050803 9.37 DNM2 DNM1
5 postsynaptic neurotransmitter receptor internalization GO:0098884 9.32 DNM2 DNM1
6 phagosome-lysosome fusion GO:0090385 9.26 RAB7B RAB7A
7 synaptic vesicle budding from presynaptic endocytic zone membrane GO:0016185 9.16 DNM2 DNM1
8 endosome to lysosome transport GO:0008333 9.13 RAB7B RAB7A MTM1
9 mitochondrial fission GO:0000266 8.8 GDAP1 DNM2 DNM1

Molecular functions related to Charcot-Marie-Tooth Disease, Dominant Intermediate B according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.67 RAB7B RAB7A DNM2 DNM1
2 GTPase activity GO:0003924 9.62 RAB7B RAB7A DNM2 DNM1
3 WW domain binding GO:0050699 9.4 LITAF DNM2
4 nitric-oxide synthase binding GO:0050998 9.26 DNM2 DNM1
5 phosphatidylinositol-3-phosphatase activity GO:0004438 9.16 MTMR2 MTM1
6 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.96 MTMR2 MTM1
7 D2 dopamine receptor binding GO:0031749 8.62 DNM2 DNM1

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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