MED25 (mediator complex subunit 25) - Rat Genome Database

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Gene: MED25 (mediator complex subunit 25) Homo sapiens
Analyze
Symbol: MED25
Name: mediator complex subunit 25
RGD ID: 1347126
HGNC Page HGNC:28845
Description: Enables nuclear retinoid X receptor binding activity and transcription coactivator binding activity. Involved in negative regulation of fibroblast proliferation; positive regulation of mediator complex assembly; and regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of core mediator complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACID1; activator interaction domain-containing protein 1; activator-recruited cofactor 92 kDa component; ARC/mediator transcriptional coactivator subunit; ARC92; BVSYS; CMT2B2; DKFZp434K0512; mediator of RNA polymerase II transcription subunit 25; mediator of RNA polymerase II transcription, subunit 25 homolog; MGC70671; P78; prostate-derived protein 78 kDa; PTOV2; TCBAP0758
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,818,289 - 49,840,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,818,282 - 49,840,383 (+)Ensemblhg38GRCh38
GRCh371950,321,546 - 50,343,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,013,358 - 55,032,049 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341955,013,357 - 55,032,049NCBI
Celera1947,190,990 - 47,209,687 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,697,846 - 46,716,581 (+)NCBIHuRef
CHM1_11950,323,376 - 50,342,077 (+)NCBICHM1_1
T2T-CHM13v2.01952,817,584 - 52,840,522 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Absent speech  (IAGP)
Adducted thumb  (IAGP)
Adult onset  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Amblyopia  (IAGP)
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad distal phalanx of the toes  (IAGP)
Cataract  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebral atrophy  (IAGP)
Cholelithiasis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clitoral hypertrophy  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd finger  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Developmental cataract  (IAGP)
Deviation of the 2nd finger  (IAGP)
Dilated third ventricle  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Exaggerated cupid's bow  (IAGP)
Finger syndactyly  (IAGP)
Furrowed tongue  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability, moderate  (IAGP)
Kyphosis  (IAGP)
Lateral ventricle dilatation  (IAGP)
Left superior vena cava draining to coronary sinus  (IAGP)
Low-set ears  (IAGP)
Male urethral meatus stenosis  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Neurodevelopmental delay  (IAGP)
Nevus flammeus of the forehead  (IAGP)
Overlapping fingers  (IAGP)
Overlapping toe  (IAGP)
Pectus carinatum  (IAGP)
Pes cavus  (IAGP)
Polyneuropathy  (IAGP)
Poor speech  (IAGP)
Prominent nasal tip  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent pneumonia  (IAGP)
Reduced tendon reflexes  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short philtrum  (IAGP)
Single transverse palmar crease  (IAGP)
Sparse eyebrow  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Tented upper lip vermilion  (IAGP)
Tip-toe gait  (IAGP)
Uplifted earlobe  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. The Mediator complex and transcription regulation. Poss ZC, etal., Crit Rev Biochem Mol Biol. 2013 Nov-Dec;48(6):575-608. doi: 10.3109/10409238.2013.840259. Epub 2013 Oct 3.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9110174   PMID:10235267   PMID:11112660   PMID:11230166   PMID:11559591   PMID:11834832   PMID:12163014   PMID:12477932   PMID:14638676   PMID:14657022   PMID:14702039   PMID:14983011  
PMID:15175163   PMID:15989967   PMID:16239144   PMID:16799563   PMID:17135252   PMID:17641689   PMID:18418385   PMID:19290556   PMID:20089804   PMID:20133760   PMID:20301462   PMID:20301532  
PMID:20508642   PMID:20974256   PMID:21110951   PMID:21135126   PMID:21378963   PMID:21378965   PMID:21427722   PMID:21729782   PMID:21785987   PMID:21873635   PMID:22447446   PMID:22952853  
PMID:23022380   PMID:23275444   PMID:23563140   PMID:23720494   PMID:23864652   PMID:24874105   PMID:24882805   PMID:24960263   PMID:25281560   PMID:25391650   PMID:25527630   PMID:25792360  
PMID:26130716   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27273787   PMID:27406034   PMID:27703004   PMID:28514442   PMID:28728983   PMID:29509190   PMID:29568061   PMID:29656893  
PMID:30554943   PMID:31527615   PMID:32296183   PMID:32324310   PMID:32367506   PMID:32416067   PMID:32707033   PMID:32816121   PMID:32825095   PMID:33961781   PMID:34373451   PMID:35271311  
PMID:36102648   PMID:36949045   PMID:38580884   PMID:39617063  


Genomics

Comparative Map Data
MED25
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,818,289 - 49,840,384 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,818,282 - 49,840,383 (+)Ensemblhg38GRCh38
GRCh371950,321,546 - 50,343,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,013,358 - 55,032,049 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341955,013,357 - 55,032,049NCBI
Celera1947,190,990 - 47,209,687 (+)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,697,846 - 46,716,581 (+)NCBIHuRef
CHM1_11950,323,376 - 50,342,077 (+)NCBICHM1_1
T2T-CHM13v2.01952,817,584 - 52,840,522 (+)NCBIT2T-CHM13v2.0
Med25
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,526,189 - 44,544,771 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,526,189 - 44,542,136 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38744,876,765 - 44,892,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,876,765 - 44,892,712 (-)Ensemblmm10GRCm38
MGSCv37752,134,756 - 52,147,736 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36744,747,428 - 44,760,409 (-)NCBIMGSCv36mm8
Celera740,329,552 - 40,342,567 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.95NCBI
Med25
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,496,447 - 104,513,061 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1104,496,447 - 104,512,391 (-)EnsemblGRCr8
mRatBN7.2195,359,961 - 95,375,827 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,360,284 - 95,375,877 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1100,748,078 - 100,760,955 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,220,743 - 109,233,620 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,511,152 - 102,524,029 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,872,240 - 100,887,864 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,874,976 - 100,887,853 (-)Ensemblrn6Rnor6.0
Rnor_5.01101,936,861 - 101,952,758 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4195,351,526 - 95,364,403 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera189,624,421 - 89,637,298 (-)NCBICelera
RGSC_v3.1195,429,640 - 95,442,595 (-)NCBI
Cytogenetic Map1q22NCBI
Med25
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,084,182 - 1,103,143 (-)Ensembl
ChiLan1.0NW_0049555591,085,033 - 1,102,501 (-)NCBIChiLan1.0ChiLan1.0
MED25
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,933,021 - 55,955,983 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,853,775 - 57,876,771 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,831,190 - 46,853,367 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,747,445 - 55,765,978 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,747,722 - 55,765,942 (+)EnsemblpanPan2panpan1.1
MED25
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,723,737 - 106,740,077 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,727,141 - 106,740,032 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1106,306,605 - 106,323,010 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01107,244,636 - 107,261,039 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,244,582 - 107,261,159 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,920,147 - 106,933,101 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,558,669 - 106,575,105 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,399,164 - 107,415,567 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Med25
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,991,828 - 22,012,964 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,609,451 - 3,628,337 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,610,004 - 3,629,850 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED25
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,834,316 - 54,852,821 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1654,834,303 - 54,849,539 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,563,412 - 50,581,933 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MED25
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,979,616 - 42,994,901 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,979,674 - 42,994,865 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607322,954,325 - 22,971,979 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Med25
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,484,359 - 4,503,863 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248324,483,599 - 4,503,937 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in MED25
728 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys) indel Charcot-Marie-Tooth disease type 2 [RCV000545565] Chr19:49828536..49828537 [GRCh38]
Chr19:50331793..50331794 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.107G>A (p.Arg36His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174287]|Charcot-Marie-Tooth disease type 2 [RCV000550427] Chr19:49818448 [GRCh38]
Chr19:50321705 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1039G>C (p.Val347Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000557081] Chr19:49830825 [GRCh38]
Chr19:50334082 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000552244]|Inborn genetic diseases [RCV002527935] Chr19:49835871 [GRCh38]
Chr19:50339128 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.651G>A (p.Pro217=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002527936] Chr19:49829911 [GRCh38]
Chr19:50333168 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) single nucleotide variant Charcot-Marie-Tooth disease [RCV000192241]|Charcot-Marie-Tooth disease type 2 [RCV001082848]|Charcot-Marie-Tooth disease type 2B2 [RCV000001387]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001262290]|MED25-related disorder [RCV003924791]|Tip-toe gait [RCV002227925]|not provided [RCV000416086]|not specified [RCV001818117] Chr19:49830790 [GRCh38]
Chr19:50334047 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.3(MED25):c.-8C>A single nucleotide variant Lung cancer [RCV000101294] Chr19:49818334 [GRCh38]
Chr19:50321591 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_030973.4(MED25):c.1674+19C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173675]|Charcot-Marie-Tooth disease type 2 [RCV002055673]|not provided [RCV004717046]|not specified [RCV000126729] Chr19:49835196 [GRCh38]
Chr19:50338453 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.2031G>A (p.Ala677=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173681]|Charcot-Marie-Tooth disease type 2 [RCV000756327]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001283332]|not provided [RCV004717047]|not specified [RCV000126730] Chr19:49836291 [GRCh38]
Chr19:50339548 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.-12A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173680]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001284886]|not provided [RCV004717048]|not specified [RCV000126731] Chr19:49818330 [GRCh38]
Chr19:50321587 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.165G>A (p.Thr55=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173677]|Charcot-Marie-Tooth disease type 2 [RCV000471534]|not provided [RCV001706126]|not specified [RCV000175953] Chr19:49818601 [GRCh38]
Chr19:50321858 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.135-6T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001174293]|Charcot-Marie-Tooth disease type 2 [RCV000654006]|Inborn genetic diseases [RCV002516695]|not provided [RCV000724688]|not specified [RCV000175954] Chr19:49818565 [GRCh38]
Chr19:50321822 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.418C>T (p.Arg140Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000689030]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004556753]|not provided [RCV000162327] Chr19:49828983 [GRCh38]
Chr19:50332240 [GRCh37]
Chr19:19q13.33		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_030973.4(MED25):c.116A>G (p.Tyr39Cys) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV000185605] Chr19:49818457 [GRCh38]
Chr19:50321714 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000197425]|Charcot-Marie-Tooth disease type 2B2 [RCV000765458]|Inborn genetic diseases [RCV005365131]|not provided [RCV000756328] Chr19:49832371 [GRCh38]
Chr19:50335628 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1794C>T (p.Ala598=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173682]|Charcot-Marie-Tooth disease type 2 [RCV000198878]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001286444]|not provided [RCV004703467]|not specified [RCV000433214] Chr19:49835774 [GRCh38]
Chr19:50339031 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.664C>T (p.Leu222=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172681]|Charcot-Marie-Tooth disease type 2 [RCV000199999]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001285290]|not provided [RCV004703468]|not specified [RCV000422987] Chr19:49829924 [GRCh38]
Chr19:50333181 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.396C>T (p.Arg132=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173465]|Charcot-Marie-Tooth disease type 2 [RCV000653964]|MED25-related disorder [RCV003967768]|not provided [RCV000370288] Chr19:49828539 [GRCh38]
Chr19:50331796 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173683]|Charcot-Marie-Tooth disease type 2 [RCV000204538]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001282946]|not provided [RCV002057053]|not specified [RCV000426883] Chr19:49835586 [GRCh38]
Chr19:50338843 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.2088G>A (p.Leu696=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173679]|Charcot-Marie-Tooth disease type 2 [RCV000204546]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001001780]|Polyneuropathy [RCV000850336]|not provided [RCV001310427]|not specified [RCV001729459] Chr19:49836348 [GRCh38]
Chr19:50339605 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1483-7C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173676]|Charcot-Marie-Tooth disease type 2 [RCV000204774]|Charcot-Marie-Tooth disease type 2B2 [RCV000625156]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001001534]|not provided [RCV001668371]|not specified [RCV001699237] Chr19:49834979 [GRCh38]
Chr19:50338236 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.247C>G (p.Gln83Glu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174292]|Charcot-Marie-Tooth disease type 2 [RCV000205554]|Inborn genetic diseases [RCV002515526] Chr19:49819238 [GRCh38]
Chr19:50322495 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1317-8G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000551763] Chr19:49832092 [GRCh38]
Chr19:50335349 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.4G>C (p.Val2Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172671]|Charcot-Marie-Tooth disease type 2 [RCV000553606] Chr19:49818345 [GRCh38]
Chr19:50321602 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.904C>T (p.Arg302Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000226407]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001332638] Chr19:49830595 [GRCh38]
Chr19:50333852 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000232554] Chr19:49835932 [GRCh38]
Chr19:50339189 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.658A>T (p.Met220Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000559469] Chr19:49829918 [GRCh38]
Chr19:50333175 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2208C>T (p.Ser736=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000299998] Chr19:49836908 [GRCh38]
Chr19:50340165 [GRCh37]
Chr19:19q13.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1038G>T (p.Leu346=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000273162]|not provided [RCV001815313] Chr19:49830824 [GRCh38]
Chr19:50334081 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.234C>G (p.Pro78=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173684]|Charcot-Marie-Tooth disease type 2 [RCV000475601]|not provided [RCV001706538] Chr19:49819225 [GRCh38]
Chr19:50322482 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.1675-7C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000555419]|Charcot-Marie-Tooth disease type 2B2 [RCV002487457]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001801803]|not provided [RCV004717306]|not specified [RCV001820989] Chr19:49835527 [GRCh38]
Chr19:50338784 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.354C>T (p.Leu118=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172674]|Charcot-Marie-Tooth disease type 2 [RCV000469922]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV005230255]|not provided [RCV003311759]|not specified [RCV000419654] Chr19:49828497 [GRCh38]
Chr19:50331754 [GRCh37]
Chr19:19q13.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1377C>T (p.Thr459=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172682]|Charcot-Marie-Tooth disease type 2 [RCV000538224] Chr19:49832310 [GRCh38]
Chr19:50335567 [GRCh37]
Chr19:19q13.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1101+4G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653876]|Charcot-Marie-Tooth disease type 2B2 [RCV005355650]|Inborn genetic diseases [RCV002521242]|not provided [RCV001815314] Chr19:49830891 [GRCh38]
Chr19:50334148 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000378105] Chr19:49831334 [GRCh38]
Chr19:50334591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172666]|Charcot-Marie-Tooth disease type 2 [RCV000532947]|Tip-toe gait [RCV001822857]|not provided [RCV000996970] Chr19:49836226 [GRCh38]
Chr19:50339483 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance|no classifications from unflagged records
NM_030973.3(MED25):c.-44C>T single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000261501] Chr19:49818298 [GRCh38]
Chr19:50321555 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.3(MED25):c.1482+13C>A single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000343171] Chr19:49832428 [GRCh38]
Chr19:50335685 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.3(MED25):c.1483-13G>C single nucleotide variant Charcot-Marie-Tooth disease, type 2 [RCV000379076] Chr19:49834973 [GRCh38]
Chr19:50338230 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1939C>T (p.Arg647Ter) single nucleotide variant not provided [RCV000599219] Chr19:49835919 [GRCh38]
Chr19:50339176 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_030973.4(MED25):c.769C>G (p.Leu257Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002524676]|not provided [RCV000415921] Chr19:49830168 [GRCh38]
Chr19:50333425 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.547G>A (p.Val183Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000529721] Chr19:49829807 [GRCh38]
Chr19:50333064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1677G>A (p.Met559Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000531602] Chr19:49835536 [GRCh38]
Chr19:50338793 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1278A>T (p.Ser426=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000539144] Chr19:49831983 [GRCh38]
Chr19:50335240 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.23C>A (p.Pro8Gln) single nucleotide variant not provided [RCV000522814] Chr19:49818364 [GRCh38]
Chr19:50321621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.597C>A (p.Ala199=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173674]|Charcot-Marie-Tooth disease type 2 [RCV000469894]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001282029]|not provided [RCV004703935]|not specified [RCV000428275] Chr19:49829857 [GRCh38]
Chr19:50333114 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.597C>T (p.Ala199=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002521620]|not specified [RCV000428612] Chr19:49829857 [GRCh38]
Chr19:50333114 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1128G>C (p.Val376=) single nucleotide variant not specified [RCV000419008] Chr19:49831359 [GRCh38]
Chr19:50334616 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-16G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581658]|not specified [RCV000436488] Chr19:49829770 [GRCh38]
Chr19:50333027 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1434G>A (p.Lys478=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172672]|Charcot-Marie-Tooth disease type 2 [RCV000456152] Chr19:49832367 [GRCh38]
Chr19:50335624 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.316G>A (p.Gly106Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001238346]|Charcot-Marie-Tooth disease type 2B2 [RCV001249635]|Tip-toe gait [RCV003319988]|not provided [RCV000482797] Chr19:49828459 [GRCh38]
Chr19:50331716 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000471723] Chr19:49836373 [GRCh38]
Chr19:50339630 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.638T>C (p.Val213Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000457028]|MED25-related disorder [RCV003912807] Chr19:49829898 [GRCh38]
Chr19:50333155 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) deletion Charcot-Marie-Tooth disease type 2 [RCV000464933]|not provided [RCV005251135] Chr19:49835758..49835759 [GRCh38]
Chr19:50339015..50339016 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2056C>T (p.Leu686=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173466]|Charcot-Marie-Tooth disease type 2 [RCV000462056]|not provided [RCV004704010] Chr19:49836316 [GRCh38]
Chr19:50339573 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.93C>T (p.Tyr31=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173468]|Charcot-Marie-Tooth disease type 2 [RCV000465795]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003753120]|not provided [RCV002510903] Chr19:49818434 [GRCh38]
Chr19:50321691 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.1165del (p.Leu389fs) deletion not provided [RCV000479883] Chr19:49831394 [GRCh38]
Chr19:50334651 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_030973.4(MED25):c.395G>A (p.Arg132His) single nucleotide variant not provided [RCV002510910]|not specified [RCV000508558] Chr19:49828538 [GRCh38]
Chr19:50331795 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_030973.4(MED25):c.1014A>G (p.Pro338=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002526743] Chr19:49830800 [GRCh38]
Chr19:50334057 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_030973.4(MED25):c.689-3C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172675]|Charcot-Marie-Tooth disease type 2 [RCV000535644] Chr19:49830085 [GRCh38]
Chr19:50333342 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1041C>T (p.Val347=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000537789] Chr19:49830827 [GRCh38]
Chr19:50334084 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174294]|Charcot-Marie-Tooth disease type 2 [RCV000539627]|not provided [RCV004691914] Chr19:49835536 [GRCh38]
Chr19:50338793 [GRCh37]
Chr19:19q13.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653848] Chr19:49836233 [GRCh38]
Chr19:50339490 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.764C>G (p.Ala255Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653856]|Inborn genetic diseases [RCV004025917] Chr19:49830163 [GRCh38]
Chr19:50333420 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1107C>T (p.Gly369=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653867] Chr19:49831338 [GRCh38]
Chr19:50334595 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.773C>T (p.Ser258Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653875] Chr19:49830172 [GRCh38]
Chr19:50333429 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2147-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653878] Chr19:49836844 [GRCh38]
Chr19:50340101 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.602del (p.Pro201fs) deletion Charcot-Marie-Tooth disease type 2 [RCV000653897] Chr19:49829856 [GRCh38]
Chr19:50333113 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.602C>T (p.Pro201Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653910]|Inborn genetic diseases [RCV004639306]|not provided [RCV002264973] Chr19:49829862 [GRCh38]
Chr19:50333119 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.569C>T (p.Ala190Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653921]|Inborn genetic diseases [RCV004025924] Chr19:49829829 [GRCh38]
Chr19:50333086 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.688+8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653973] Chr19:49829956 [GRCh38]
Chr19:50333213 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1374+9C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173456]|Charcot-Marie-Tooth disease type 2 [RCV000653983] Chr19:49832166 [GRCh38]
Chr19:50335423 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.228C>T (p.Cys76=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173454]|Charcot-Marie-Tooth disease type 2 [RCV000653984]|not provided [RCV003411553] Chr19:49819219 [GRCh38]
Chr19:50322476 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1572C>T (p.Gly524=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173449]|Charcot-Marie-Tooth disease type 2 [RCV000653985]|not provided [RCV003424258]|not specified [RCV001816647] Chr19:49835075 [GRCh38]
Chr19:50338332 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.480G>A (p.Thr160=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653987] Chr19:49829045 [GRCh38]
Chr19:50332302 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.810G>A (p.Pro270=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653989] Chr19:49830209 [GRCh38]
Chr19:50333466 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1675-4G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000653991] Chr19:49835530 [GRCh38]
Chr19:50338787 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1227A>G (p.Gln409=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172677]|Charcot-Marie-Tooth disease type 2 [RCV000653996] Chr19:49831458 [GRCh38]
Chr19:50334715 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2226C>T (p.Ile742=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000654000] Chr19:49836926 [GRCh38]
Chr19:50340183 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.852C>T (p.Ala284=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000654007] Chr19:49830543 [GRCh38]
Chr19:50333800 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.234C>T (p.Pro78=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000654011] Chr19:49819225 [GRCh38]
Chr19:50322482 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173462]|Charcot-Marie-Tooth disease type 2 [RCV000654029]|MED25-related disorder [RCV003937999]|not provided [RCV004704182] Chr19:49818587 [GRCh38]
Chr19:50321844 [GRCh37]
Chr19:19q13.33		 likely benign
NC_000019.10:g.(?_49828429)_(49829110_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV000654030] Chr19:49828429..49829110 [GRCh38]
Chr19:50331686..50332367 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1231-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000526539]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001286405] Chr19:49831928 [GRCh38]
Chr19:50335185 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1317-8G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000527907] Chr19:49832092 [GRCh38]
Chr19:50335349 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1699G>A (p.Gly567Arg) single nucleotide variant Inborn genetic diseases [RCV003276451] Chr19:49835558 [GRCh38]
Chr19:50338815 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1002C>T (p.Gly334=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000536461] Chr19:49830788 [GRCh38]
Chr19:50334045 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000685224]|Inborn genetic diseases [RCV004957986] Chr19:49836241 [GRCh38]
Chr19:50339498 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.748G>A (p.Ala250Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000685337] Chr19:49830147 [GRCh38]
Chr19:50333404 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.956C>A (p.Pro319His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000689825]|Inborn genetic diseases [RCV002544855] Chr19:49830742 [GRCh38]
Chr19:50333999 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000690626]|Inborn genetic diseases [RCV004025061] Chr19:49831363 [GRCh38]
Chr19:50334620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2209G>A (p.Val737Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000690973] Chr19:49836909 [GRCh38]
Chr19:50340166 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.908-3_908-2del microsatellite Charcot-Marie-Tooth disease [RCV001172664]|Charcot-Marie-Tooth disease type 2 [RCV000688268] Chr19:49830689..49830690 [GRCh38]
Chr19:50333946..50333947 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.295G>A (p.Asp99Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000693815] Chr19:49819286 [GRCh38]
Chr19:50322543 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1076C>T (p.Thr359Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000699436]|not provided [RCV004692160] Chr19:49830862 [GRCh38]
Chr19:50334119 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.544A>G (p.Ile182Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000699542] Chr19:49829804 [GRCh38]
Chr19:50333061 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000699931]|Inborn genetic diseases [RCV004958028] Chr19:49836286 [GRCh38]
Chr19:50339543 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000706387]|Inborn genetic diseases [RCV004958048]|not provided [RCV002510966] Chr19:49835779 [GRCh38]
Chr19:50339036 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000704021]|not specified [RCV003987674] Chr19:49831441 [GRCh38]
Chr19:50334698 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1350G>A (p.Met450Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000692686] Chr19:49832133 [GRCh38]
Chr19:50335390 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1786G>A (p.Val596Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000697597]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004723097]|not provided [RCV004692151] Chr19:49835766 [GRCh38]
Chr19:50339023 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.802G>A (p.Val268Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000697624] Chr19:49830201 [GRCh38]
Chr19:50333458 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.962G>C (p.Ser321Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000693015] Chr19:49830748 [GRCh38]
Chr19:50334005 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.801dup (p.Val268fs) duplication Charcot-Marie-Tooth disease type 2 [RCV000695600]|not provided [RCV001507963] Chr19:49830194..49830195 [GRCh38]
Chr19:50333451..50333452 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000695908] Chr19:49835821 [GRCh38]
Chr19:50339078 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.679G>A (p.Val227Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000696026]|Inborn genetic diseases [RCV003163200]|not provided [RCV002264978] Chr19:49829939 [GRCh38]
Chr19:50333196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000705354] Chr19:49818458 [GRCh38]
Chr19:50321715 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.368A>C (p.Gln123Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000696853] Chr19:49828511 [GRCh38]
Chr19:50331768 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1102-4G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003104201] Chr19:49831329 [GRCh38]
Chr19:50334586 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1919del (p.Pro640fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001855903]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV000758139] Chr19:49835897 [GRCh38]
Chr19:50339154 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_030973.4(MED25):c.1989C>T (p.Pro663=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000861988]|MED25-related disorder [RCV003948066] Chr19:49836249 [GRCh38]
Chr19:50339506 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174290]|Charcot-Marie-Tooth disease type 2 [RCV002533814]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV000758140]|Neurodevelopmental delay [RCV002274097] Chr19:49829816 [GRCh38]
Chr19:50333073 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.771C>T (p.Leu257=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000860594] Chr19:49830170 [GRCh38]
Chr19:50333427 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.181-7C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001463924] Chr19:49819165 [GRCh38]
Chr19:50322422 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.678C>T (p.Leu226=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001479941]|not provided [RCV003411854] Chr19:49829938 [GRCh38]
Chr19:50333195 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172663]|Charcot-Marie-Tooth disease type 2 [RCV001043499] Chr19:49836892 [GRCh38]
Chr19:50340149 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001043795] Chr19:49835742 [GRCh38]
Chr19:50338999 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_030973.4(MED25):c.689T>C (p.Val230Ala) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173464]|Charcot-Marie-Tooth disease type 2 [RCV000866295]|MED25-related disorder [RCV003965705] Chr19:49830088 [GRCh38]
Chr19:50333345 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1198C>T (p.Leu400=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000869189] Chr19:49831429 [GRCh38]
Chr19:50334686 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000866587]|MED25-related disorder [RCV003948118]|not specified [RCV001816976] Chr19:49819266 [GRCh38]
Chr19:50322523 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1968G>A (p.Pro656=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000875595] Chr19:49836228 [GRCh38]
Chr19:50339485 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1548G>C (p.Ser516=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000870036] Chr19:49835051 [GRCh38]
Chr19:50338308 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1026C>G (p.Ser342=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001404094] Chr19:49830812 [GRCh38]
Chr19:50334069 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1593C>T (p.Ser531=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002540038] Chr19:49835096 [GRCh38]
Chr19:50338353 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.954C>T (p.Pro318=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000865105]|not provided [RCV001200241] Chr19:49830740 [GRCh38]
Chr19:50333997 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.801C>T (p.Pro267=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001490884] Chr19:49830200 [GRCh38]
Chr19:50333457 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-4G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002545996] Chr19:49832304 [GRCh38]
Chr19:50335561 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.825C>T (p.Pro275=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000867912] Chr19:49830516 [GRCh38]
Chr19:50333773 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.633A>G (p.Thr211=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001465742]|not provided [RCV003411871] Chr19:49829893 [GRCh38]
Chr19:50333150 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.447C>T (p.Pro149=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001495295] Chr19:49829012 [GRCh38]
Chr19:50332269 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.96C>T (p.Phe32=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000867941] Chr19:49818437 [GRCh38]
Chr19:50321694 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.600C>T (p.Pro200=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002536776]|MED25-related disorder [RCV003948138] Chr19:49829860 [GRCh38]
Chr19:50333117 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1899C>T (p.Pro633=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000966530]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001804141] Chr19:49835879 [GRCh38]
Chr19:50339136 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.294C>G (p.Leu98=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000867987] Chr19:49819285 [GRCh38]
Chr19:50322542 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1746+9A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001456879] Chr19:49835614 [GRCh38]
Chr19:50338871 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.150T>G (p.Gly50=) single nucleotide variant not provided [RCV000905312] Chr19:49818586 [GRCh38]
Chr19:50321843 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1062C>T (p.Ser354=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173446]|Charcot-Marie-Tooth disease type 2 [RCV000863453] Chr19:49830848 [GRCh38]
Chr19:50334105 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.1095G>A (p.Pro365=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001408599]|not provided [RCV000868912] Chr19:49830881 [GRCh38]
Chr19:50334138 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1746+10G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000868404] Chr19:49835615 [GRCh38]
Chr19:50338872 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001058093] Chr19:49835146 [GRCh38]
Chr19:50338403 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001058161] Chr19:49831399 [GRCh38]
Chr19:50334656 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.170T>C (p.Phe57Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001058162] Chr19:49818606 [GRCh38]
Chr19:50321863 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1150C>G (p.Leu384Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001055066] Chr19:49831381 [GRCh38]
Chr19:50334638 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1757G>A (p.Arg586His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001058523]|Inborn genetic diseases [RCV004031846] Chr19:49835737 [GRCh38]
Chr19:50338994 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001056345]|Inborn genetic diseases [RCV002553812] Chr19:49830880 [GRCh38]
Chr19:50334137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1508C>T (p.Thr503Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001053245] Chr19:49835011 [GRCh38]
Chr19:50338268 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1455C>T (p.Gly485=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001059071] Chr19:49832388 [GRCh38]
Chr19:50335645 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.309C>A (p.Phe103Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001059136]|Inborn genetic diseases [RCV005367696]|Neurodevelopmental delay [RCV002274129] Chr19:49828452 [GRCh38]
Chr19:50331709 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172665]|Charcot-Marie-Tooth disease type 2 [RCV001060593] Chr19:49830876 [GRCh38]
Chr19:50334133 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.3(MED25):c.1482+1G>A single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003753890] Chr19:49832416 [GRCh38]
Chr19:50335673 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.273C>T (p.Ala91=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001435930] Chr19:49819264 [GRCh38]
Chr19:50322521 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.603G>C (p.Pro201=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002539200] Chr19:49829863 [GRCh38]
Chr19:50333120 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.843T>C (p.Ala281=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000863505] Chr19:49830534 [GRCh38]
Chr19:50333791 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1212G>A (p.Gly404=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000874372] Chr19:49831443 [GRCh38]
Chr19:50334700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2046G>A (p.Pro682=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173453]|Charcot-Marie-Tooth disease type 2 [RCV000863816] Chr19:49836306 [GRCh38]
Chr19:50339563 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.102G>A (p.Gly34=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000873045] Chr19:49818443 [GRCh38]
Chr19:50321700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.255C>T (p.His85=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001413917] Chr19:49819246 [GRCh38]
Chr19:50322503 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.570G>C (p.Ala190=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000866366]|MED25-related disorder [RCV003955643]|not provided [RCV004808910] Chr19:49829830 [GRCh38]
Chr19:50333087 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.138T>C (p.Tyr46=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002539190] Chr19:49818574 [GRCh38]
Chr19:50321831 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.306-10del deletion Charcot-Marie-Tooth disease type 2 [RCV001401406] Chr19:49828439 [GRCh38]
Chr19:50331696 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.633A>T (p.Thr211=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000865738]|Charcot-Marie-Tooth disease type 2B2 [RCV002507488] Chr19:49829893 [GRCh38]
Chr19:50333150 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1824A>G (p.Gln608=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001480970] Chr19:49835804 [GRCh38]
Chr19:50339061 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.367C>A (p.Gln123Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000818988] Chr19:49828510 [GRCh38]
Chr19:50331767 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1678G>C (p.Gly560Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000819034]|not provided [RCV000996969] Chr19:49835537 [GRCh38]
Chr19:50338794 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2028_2030del (p.Ala677del) deletion Charcot-Marie-Tooth disease type 2 [RCV000819419] Chr19:49836287..49836289 [GRCh38]
Chr19:50339544..50339546 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000801412] Chr19:49831364 [GRCh38]
Chr19:50334621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172661]|Charcot-Marie-Tooth disease type 2 [RCV000801488] Chr19:49835869 [GRCh38]
Chr19:50339126 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000801517]|Inborn genetic diseases [RCV004028065]|not provided [RCV005250115] Chr19:49836358 [GRCh38]
Chr19:50339615 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.449del (p.Pro150fs) deletion Charcot-Marie-Tooth disease type 2 [RCV000797933] Chr19:49829010 [GRCh38]
Chr19:50332267 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1920T>C (p.Pro640=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000976311] Chr19:49835900 [GRCh38]
Chr19:50339157 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174288]|Charcot-Marie-Tooth disease type 2 [RCV000811788]|Charcot-Marie-Tooth disease type 2B2 [RCV003483737] Chr19:49830150 [GRCh38]
Chr19:50333407 [GRCh37]
Chr19:19q13.33		 uncertain significance|not provided
NM_030973.4(MED25):c.1727C>T (p.Ala576Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000800576] Chr19:49835586 [GRCh38]
Chr19:50338843 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.601C>G (p.Pro201Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000805787] Chr19:49829861 [GRCh38]
Chr19:50333118 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.906C>G (p.Arg302=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000799090] Chr19:49830597 [GRCh38]
Chr19:50333854 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000806861] Chr19:49836355 [GRCh38]
Chr19:50339612 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000824345] Chr19:49835751 [GRCh38]
Chr19:50339008 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.107G>T (p.Arg36Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000798692] Chr19:49818448 [GRCh38]
Chr19:50321705 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1567A>T (p.Met523Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000795700] Chr19:49835070 [GRCh38]
Chr19:50338327 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000808786] Chr19:49835833 [GRCh38]
Chr19:50339090 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1526G>A (p.Arg509His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000811207] Chr19:49835029 [GRCh38]
Chr19:50338286 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.305+14C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002064414]|Polyneuropathy [RCV000850332] Chr19:49819310 [GRCh38]
Chr19:50322567 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000804973] Chr19:49835890 [GRCh38]
Chr19:50339147 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000793845] Chr19:49830811 [GRCh38]
Chr19:50334068 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.502A>T (p.Asn168Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000805241] Chr19:49829067 [GRCh38]
Chr19:50332324 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.235G>A (p.Glu79Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000802240] Chr19:49819226 [GRCh38]
Chr19:50322483 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000812990] Chr19:49836900 [GRCh38]
Chr19:50340157 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1314C>G (p.Asn438Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000815843] Chr19:49832019 [GRCh38]
Chr19:50335276 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1959A>G (p.Pro653=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000872746] Chr19:49835939 [GRCh38]
Chr19:50339196 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.617C>T (p.Pro206Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000808989]|Inborn genetic diseases [RCV004949957] Chr19:49829877 [GRCh38]
Chr19:50333134 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000813691] Chr19:49831391 [GRCh38]
Chr19:50334648 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.145G>T (p.Gly49Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000814135] Chr19:49818581 [GRCh38]
Chr19:50321838 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000824054] Chr19:49835865 [GRCh38]
Chr19:50339122 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1086C>T (p.Pro362=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001393938]|Polyneuropathy [RCV000850294] Chr19:49830872 [GRCh38]
Chr19:50334129 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del) deletion Charcot-Marie-Tooth disease type 2 [RCV001044090] Chr19:49818349..49818372 [GRCh38]
Chr19:50321606..50321629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.407G>A (p.Gly136Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001213409]|Inborn genetic diseases [RCV004950351] Chr19:49828972 [GRCh38]
Chr19:50332229 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.807_809del (p.Pro270del) deletion Charcot-Marie-Tooth disease [RCV001172670] Chr19:49830203..49830205 [GRCh38]
Chr19:50333460..50333462 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.134+20C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172678]|Charcot-Marie-Tooth disease type 2 [RCV002068062] Chr19:49818495 [GRCh38]
Chr19:50321752 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174289]|Charcot-Marie-Tooth disease type 2 [RCV001366532] Chr19:49829817 [GRCh38]
Chr19:50333074 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.819+14C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172673]|Charcot-Marie-Tooth disease type 2 [RCV002068785]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001001971]|not provided [RCV001655665] Chr19:49830232 [GRCh38]
Chr19:50333489 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.124C>T (p.Pro42Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001220392]|Inborn genetic diseases [RCV005372595] Chr19:49818465 [GRCh38]
Chr19:50321722 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.286A>G (p.Thr96Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001217546] Chr19:49819277 [GRCh38]
Chr19:50322534 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001220960] Chr19:49830789 [GRCh38]
Chr19:50334046 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.102del (p.Leu35fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001221546] Chr19:49818440 [GRCh38]
Chr19:50321697 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.703G>A (p.Ala235Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001226456] Chr19:49830102 [GRCh38]
Chr19:50333359 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1068G>A (p.Leu356=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001226459] Chr19:49830854 [GRCh38]
Chr19:50334111 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.853G>A (p.Ala285Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001209949] Chr19:49830544 [GRCh38]
Chr19:50333801 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.784C>T (p.Gln262Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001218508] Chr19:49830183 [GRCh38]
Chr19:50333440 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001221726] Chr19:49836328..49836329 [GRCh38]
Chr19:50339585..50339586 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001215046] Chr19:49836847 [GRCh38]
Chr19:50340104 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2023G>A (p.Ala675Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001224695] Chr19:49836283 [GRCh38]
Chr19:50339540 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.558G>A (p.Arg186=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173461]|Charcot-Marie-Tooth disease type 2 [RCV001471346] Chr19:49829818 [GRCh38]
Chr19:50333075 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2037G>A (p.Leu679=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173467]|Charcot-Marie-Tooth disease type 2 [RCV002558755] Chr19:49836297 [GRCh38]
Chr19:50339554 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1369C>T (p.Leu457=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173672]|Charcot-Marie-Tooth disease type 2 [RCV002557493] Chr19:49832152 [GRCh38]
Chr19:50335409 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.526C>T (p.Arg176Trp) single nucleotide variant Inborn genetic diseases [RCV002559277]|not provided [RCV001200240] Chr19:49829786 [GRCh38]
Chr19:50333043 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1375-55T>C single nucleotide variant not provided [RCV001674154] Chr19:49832253 [GRCh38]
Chr19:50335510 [GRCh37]
Chr19:19q13.33		 benign
NC_000019.10:g.49818253C>T single nucleotide variant not provided [RCV001670110] Chr19:49818253 [GRCh38]
Chr19:50321510 [GRCh37]
Chr19:19q13.33		 benign
NC_000019.10:g.49818255C>G single nucleotide variant not provided [RCV001618810] Chr19:49818255 [GRCh38]
Chr19:50321512 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1375-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV000874266] Chr19:49832303 [GRCh38]
Chr19:50335560 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2147-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001449174] Chr19:49836839 [GRCh38]
Chr19:50340096 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.747C>T (p.Pro249=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001483418] Chr19:49830146 [GRCh38]
Chr19:50333403 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.855G>A (p.Ala285=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001403264] Chr19:49830546 [GRCh38]
Chr19:50333803 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1950C>T (p.Leu650=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001429666] Chr19:49835930 [GRCh38]
Chr19:50339187 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.432C>A (p.Leu144=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002066379] Chr19:49828997 [GRCh38]
Chr19:50332254 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.342C>T (p.Ile114=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001482687] Chr19:49828485 [GRCh38]
Chr19:50331742 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.414G>C (p.Thr138=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001471565] Chr19:49828979 [GRCh38]
Chr19:50332236 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.432C>T (p.Leu144=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002064759] Chr19:49828997 [GRCh38]
Chr19:50332254 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.405-6T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001419419] Chr19:49828964 [GRCh38]
Chr19:50332221 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.81C>T (p.Asn27=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001450145] Chr19:49818422 [GRCh38]
Chr19:50321679 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1511C>T (p.Ala504Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001238635] Chr19:49835014 [GRCh38]
Chr19:50338271 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.248A>G (p.Gln83Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001242055] Chr19:49819239 [GRCh38]
Chr19:50322496 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.959T>G (p.Phe320Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001214535] Chr19:49830745 [GRCh38]
Chr19:50334002 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.189G>T (p.Gly63=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001245068] Chr19:49819180 [GRCh38]
Chr19:50322437 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.459G>T (p.Leu153Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001203700] Chr19:49829024 [GRCh38]
Chr19:50332281 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001239897] Chr19:49836891 [GRCh38]
Chr19:50340148 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.61G>A (p.Val21Met) single nucleotide variant Autism [RCV004698539]|Charcot-Marie-Tooth disease type 2 [RCV001236940] Chr19:49818402 [GRCh38]
Chr19:50321659 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1374G>A (p.Leu458=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001227563] Chr19:49832157 [GRCh38]
Chr19:50335414 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001065213] Chr19:49836939 [GRCh38]
Chr19:50340196 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1308C>T (p.Gly436=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001209124]|not provided [RCV002261305] Chr19:49832013 [GRCh38]
Chr19:50335270 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.283G>A (p.Val95Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001237715] Chr19:49819274 [GRCh38]
Chr19:50322531 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2116G>A (p.Ala706Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001217356] Chr19:49836376 [GRCh38]
Chr19:50339633 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1317-16del deletion Charcot-Marie-Tooth disease [RCV001173448]|Charcot-Marie-Tooth disease type 2 [RCV002068082] Chr19:49832083 [GRCh38]
Chr19:50335340 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1533C>T (p.Leu511=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173458]|Charcot-Marie-Tooth disease type 2 [RCV001474093] Chr19:49835036 [GRCh38]
Chr19:50338293 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001221435]|Inborn genetic diseases [RCV002562525] Chr19:49831339 [GRCh38]
Chr19:50334596 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.23C>T (p.Pro8Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001241485] Chr19:49818364 [GRCh38]
Chr19:50321621 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001244007] Chr19:49830792 [GRCh38]
Chr19:50334049 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1755C>G (p.Leu585=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001467604] Chr19:49835735 [GRCh38]
Chr19:50338992 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.654G>A (p.Arg218=) single nucleotide variant not provided [RCV000912813] Chr19:49829914 [GRCh38]
Chr19:50333171 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.180+238T>C single nucleotide variant not provided [RCV001721882] Chr19:49818854 [GRCh38]
Chr19:50322111 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.180+108G>C single nucleotide variant not provided [RCV001721884] Chr19:49818724 [GRCh38]
Chr19:50321981 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1048G>A (p.Val350Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003106554] Chr19:49830834 [GRCh38]
Chr19:50334091 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1230+177C>T single nucleotide variant not provided [RCV001722934] Chr19:49831638 [GRCh38]
Chr19:50334895 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.180+227A>G single nucleotide variant not provided [RCV001721883] Chr19:49818843 [GRCh38]
Chr19:50322100 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1482+200A>G single nucleotide variant not provided [RCV001721885] Chr19:49832615 [GRCh38]
Chr19:50335872 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.315C>T (p.Gly105=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001210925] Chr19:49828458 [GRCh38]
Chr19:50331715 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.688+17G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173459]|Charcot-Marie-Tooth disease type 2 [RCV002068083] Chr19:49829965 [GRCh38]
Chr19:50333222 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.186G>A (p.Gly62=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173460] Chr19:49819177 [GRCh38]
Chr19:50322434 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.125C>T (p.Pro42Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172669] Chr19:49818466 [GRCh38]
Chr19:50321723 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) single nucleotide variant Charcot-Marie-Tooth disease [RCV001174291]|Charcot-Marie-Tooth disease type 2 [RCV001321848] Chr19:49835097 [GRCh38]
Chr19:50338354 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.306-27del deletion not provided [RCV001615967] Chr19:49828422 [GRCh38]
Chr19:50331679 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172662]|Charcot-Marie-Tooth disease type 2 [RCV001873598] Chr19:49836305 [GRCh38]
Chr19:50339562 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1747-19_1747-18del deletion Charcot-Marie-Tooth disease [RCV001172680]|Charcot-Marie-Tooth disease type 2 [RCV002068063] Chr19:49835708..49835709 [GRCh38]
Chr19:50338965..50338966 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+6G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001172683] Chr19:49836412 [GRCh38]
Chr19:50339669 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1044C>T (p.Ser348=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173450] Chr19:49830830 [GRCh38]
Chr19:50334087 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1764G>A (p.Pro588=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173452]|Charcot-Marie-Tooth disease type 2 [RCV001449117] Chr19:49835744 [GRCh38]
Chr19:50339001 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+19G>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173457]|Charcot-Marie-Tooth disease type 2 [RCV002558754] Chr19:49836425 [GRCh38]
Chr19:50339682 [GRCh37]
Chr19:19q13.33		 benign|likely benign
NM_030973.4(MED25):c.134+19A>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173469] Chr19:49818494 [GRCh38]
Chr19:50321751 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.580C>T (p.Leu194=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173447] Chr19:49829840 [GRCh38]
Chr19:50333097 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.305+17T>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001173455]|Charcot-Marie-Tooth disease type 2 [RCV002067849] Chr19:49819313 [GRCh38]
Chr19:50322570 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1482+17G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173463] Chr19:49832432 [GRCh38]
Chr19:50335689 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1101+24_1101+42dup duplication Charcot-Marie-Tooth disease [RCV001173678]|Charcot-Marie-Tooth disease type 2 [RCV002068090]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001803253] Chr19:49830902..49830903 [GRCh38]
Chr19:50334159..50334160 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.384C>T (p.Phe128=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001401400]|not provided [RCV001171810] Chr19:49828527 [GRCh38]
Chr19:50331784 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.168C>T (p.Asp56=) single nucleotide variant Charcot-Marie-Tooth disease [RCV001173673] Chr19:49818604 [GRCh38]
Chr19:50321861 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-1G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001174286] Chr19:49818570 [GRCh38]
Chr19:50321827 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del) deletion Charcot-Marie-Tooth disease type 2 [RCV001231621]|Tip-toe gait [RCV004597974]|not provided [RCV001507964] Chr19:49835769..49835777 [GRCh38]
Chr19:50339026..50339034 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_030973.4(MED25):c.518T>C (p.Ile173Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001232131]|not provided [RCV001200239] Chr19:49829083 [GRCh38]
Chr19:50332340 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001201503] Chr19:49831432 [GRCh38]
Chr19:50334689 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1271C>T (p.Thr424Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001071085] Chr19:49831976 [GRCh38]
Chr19:50335233 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.761G>A (p.Gly254Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001052723] Chr19:49830160 [GRCh38]
Chr19:50333417 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1230+6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001233598] Chr19:49831467 [GRCh38]
Chr19:50334724 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1559A>T (p.Lys520Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001235933] Chr19:49835062 [GRCh38]
Chr19:50338319 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001229887] Chr19:49835028 [GRCh38]
Chr19:50338285 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001879758]|Charcot-Marie-Tooth disease type 2B2 [RCV001249636] Chr19:49835129..49835138 [GRCh38]
Chr19:50338386..50338395 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001050725]|not provided [RCV001726426] Chr19:49836302 [GRCh38]
Chr19:50339559 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.911C>T (p.Ser304Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001042746] Chr19:49830697 [GRCh38]
Chr19:50333954 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001212893]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003130186]|Inborn genetic diseases [RCV002561799] Chr19:49835944 [GRCh38]
Chr19:50339201 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.413C>T (p.Thr138Met) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172668]|Charcot-Marie-Tooth disease type 2 [RCV001873599] Chr19:49828978 [GRCh38]
Chr19:50332235 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.249A>C (p.Gln83His) single nucleotide variant Charcot-Marie-Tooth disease [RCV001172667]|Inborn genetic diseases [RCV002558737]|not provided [RCV002269342] Chr19:49819240 [GRCh38]
Chr19:50322497 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1102-11C>G single nucleotide variant Charcot-Marie-Tooth disease [RCV001172676] Chr19:49831322 [GRCh38]
Chr19:50334579 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1966-5C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001172679] Chr19:49836221 [GRCh38]
Chr19:50339478 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.955C>T (p.Pro319Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001230678] Chr19:49830741 [GRCh38]
Chr19:50333998 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1812GCCCCA[3] (p.605PQ[3]) microsatellite Charcot-Marie-Tooth disease type 2 [RCV001218443] Chr19:49835789..49835790 [GRCh38]
Chr19:50339046..50339047 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1288C>G (p.Gln430Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001216572] Chr19:49831993 [GRCh38]
Chr19:50335250 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.508G>A (p.Val170Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001216727] Chr19:49829073 [GRCh38]
Chr19:50332330 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.629C>T (p.Pro210Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001218631]|Inborn genetic diseases [RCV002562458] Chr19:49829889 [GRCh38]
Chr19:50333146 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.574C>T (p.Arg192Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001041019]|Inborn genetic diseases [RCV002551484] Chr19:49829834 [GRCh38]
Chr19:50333091 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1675-18C>T single nucleotide variant Charcot-Marie-Tooth disease [RCV001173451]|Charcot-Marie-Tooth disease type 2 [RCV002067848] Chr19:49835516 [GRCh38]
Chr19:50338773 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.112C>A (p.His38Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001246487] Chr19:49818453 [GRCh38]
Chr19:50321710 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001202213] Chr19:49836868 [GRCh38]
Chr19:50340125 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.525+6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001051389] Chr19:49829096 [GRCh38]
Chr19:50332353 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1482+19G>A single nucleotide variant Charcot-Marie-Tooth disease [RCV001173685]|Charcot-Marie-Tooth disease type 2 [RCV002068780]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001001865]|not provided [RCV001713062] Chr19:49832434 [GRCh38]
Chr19:50335691 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.2185C>T (p.Pro729Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001056640] Chr19:49836885 [GRCh38]
Chr19:50340142 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.320G>C (p.Gly107Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001062814] Chr19:49828463 [GRCh38]
Chr19:50331720 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001216007] Chr19:49835146 [GRCh38]
Chr19:50338403 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.949G>T (p.Gly317Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2B2 [RCV001250994]|not provided [RCV004692351] Chr19:49830735 [GRCh38]
Chr19:50333992 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001324533]|Inborn genetic diseases [RCV003284198] Chr19:49835811 [GRCh38]
Chr19:50339068 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_030973.4(MED25):c.377A>T (p.Asp126Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002546591]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001332637]|not provided [RCV001751647] Chr19:49828520 [GRCh38]
Chr19:50331777 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001350741]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004556838]|Inborn genetic diseases [RCV004960846] Chr19:49832329 [GRCh38]
Chr19:50335586 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.1934A>G (p.Gln645Arg) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001335164] Chr19:49835914 [GRCh38]
Chr19:50339171 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.924del (p.Leu309fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001340978]|Inborn genetic diseases [RCV002546921] Chr19:49830710 [GRCh38]
Chr19:50333967 [GRCh37]
Chr19:19q13.33		 pathogenic|uncertain significance
NM_030973.4(MED25):c.1103C>T (p.Ala368Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001318968] Chr19:49831334 [GRCh38]
Chr19:50334591 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001871688]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001286767] Chr19:49835835 [GRCh38]
Chr19:50339092 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1900A>G (p.Ile634Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001316708] Chr19:49835880 [GRCh38]
Chr19:50339137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.343G>A (p.Ala115Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001305377] Chr19:49828486 [GRCh38]
Chr19:50331743 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.439A>C (p.Asn147His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001317643] Chr19:49829004 [GRCh38]
Chr19:50332261 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.525G>A (p.Glu175=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001300916] Chr19:49829090 [GRCh38]
Chr19:50332347 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2144dup (p.Gly716fs) duplication Charcot-Marie-Tooth disease type 2 [RCV001296548] Chr19:49836402..49836403 [GRCh38]
Chr19:50339659..50339660 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.419G>A (p.Arg140Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001352161]|Inborn genetic diseases [RCV003263998] Chr19:49828984 [GRCh38]
Chr19:50332241 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.755C>T (p.Pro252Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001294791] Chr19:49830154 [GRCh38]
Chr19:50333411 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.918C>G (p.Ile306Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001325064] Chr19:49830704 [GRCh38]
Chr19:50333961 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.294C>T (p.Leu98=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001422953] Chr19:49819285 [GRCh38]
Chr19:50322542 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001363066] Chr19:49836232 [GRCh38]
Chr19:50339489 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1335C>T (p.Pro445=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001392566]|not provided [RCV003883624] Chr19:49832118 [GRCh38]
Chr19:50335375 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.306-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001394995] Chr19:49828440 [GRCh38]
Chr19:50331697 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1437C>T (p.Asp479=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001391717] Chr19:49832370 [GRCh38]
Chr19:50335627 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2061G>A (p.Gly687=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001396589] Chr19:49836321 [GRCh38]
Chr19:50339578 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.867G>A (p.Val289=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001391754] Chr19:49830558 [GRCh38]
Chr19:50333815 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.322G>A (p.Gly108Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001359478] Chr19:49828465 [GRCh38]
Chr19:50331722 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1203C>T (p.Ala401=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001392196] Chr19:49831434 [GRCh38]
Chr19:50334691 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.16G>C (p.Glu6Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001325946] Chr19:49818357 [GRCh38]
Chr19:50321614 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001344622] Chr19:49835935 [GRCh38]
Chr19:50339192 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys) single nucleotide variant Neurodevelopmental disorder [RCV001374946] Chr19:49819266 [GRCh38]
Chr19:50322523 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.740del (p.Leu247fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001301395]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003135932] Chr19:49830139 [GRCh38]
Chr19:50333396 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.1179G>C (p.Gln393His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001343495] Chr19:49831410 [GRCh38]
Chr19:50334667 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.527G>A (p.Arg176Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001360376] Chr19:49829787 [GRCh38]
Chr19:50333044 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1317-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001371520] Chr19:49832097 [GRCh38]
Chr19:50335354 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.282dup (p.Val95fs) duplication Charcot-Marie-Tooth disease type 2 [RCV001360804] Chr19:49819270..49819271 [GRCh38]
Chr19:50322527..50322528 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_50332011)_50333471del deletion Charcot-Marie-Tooth disease type 2 [RCV001365150]   uncertain significance
NM_030973.4(MED25):c.854C>A (p.Ala285Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001365259] Chr19:49830545 [GRCh38]
Chr19:50333802 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001327582]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004556083] Chr19:49832149 [GRCh38]
Chr19:50335406 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.292C>T (p.Leu98Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001351213] Chr19:49819283 [GRCh38]
Chr19:50322540 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001346256] Chr19:49832363 [GRCh38]
Chr19:50335620 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001348025] Chr19:49835868 [GRCh38]
Chr19:50339125 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.820-1G>A single nucleotide variant Neurodevelopmental disorder [RCV001374945] Chr19:49830510 [GRCh38]
Chr19:50333767 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001315267] Chr19:49832375 [GRCh38]
Chr19:50335632 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2181G>A (p.Pro727=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001319622] Chr19:49836881 [GRCh38]
Chr19:50340138 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1230+5G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001345560] Chr19:49831466 [GRCh38]
Chr19:50334723 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.809C>T (p.Pro270Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001308951] Chr19:49830208 [GRCh38]
Chr19:50333465 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001371042] Chr19:49830841 [GRCh38]
Chr19:50334098 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.733G>C (p.Val245Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001360191]|Inborn genetic diseases [RCV002547739] Chr19:49830132 [GRCh38]
Chr19:50333389 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.930A>T (p.Gln310His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001859228]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV001289860] Chr19:49830716 [GRCh38]
Chr19:50333973 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.15C>T (p.Ser5=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001414165] Chr19:49818356 [GRCh38]
Chr19:50321613 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001338372] Chr19:49835552..49835553 [GRCh38]
Chr19:50338809..50338810 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1807G>A (p.Gly603Arg) single nucleotide variant Inborn genetic diseases [RCV004952961]|not provided [RCV001507442] Chr19:49835787 [GRCh38]
Chr19:50339044 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2043G>A (p.Pro681=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001482740] Chr19:49836303 [GRCh38]
Chr19:50339560 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1047T>C (p.Thr349=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001475588] Chr19:49830833 [GRCh38]
Chr19:50334090 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1998C>T (p.Ser666=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001462959] Chr19:49836258 [GRCh38]
Chr19:50339515 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2163C>T (p.Ser721=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001472056] Chr19:49836863 [GRCh38]
Chr19:50340120 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1065C>A (p.Gly355=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001468445] Chr19:49830851 [GRCh38]
Chr19:50334108 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.945A>C (p.Gly315=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001437647] Chr19:49830731 [GRCh38]
Chr19:50333988 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1971G>A (p.Gln657=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001456309] Chr19:49836231 [GRCh38]
Chr19:50339488 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1605C>T (p.Asn535=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001406413] Chr19:49835108 [GRCh38]
Chr19:50338365 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1167C>T (p.Leu389=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001438385] Chr19:49831398 [GRCh38]
Chr19:50334655 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1482+9A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001438386] Chr19:49832424 [GRCh38]
Chr19:50335681 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1584C>T (p.Tyr528=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001399215] Chr19:49835087 [GRCh38]
Chr19:50338344 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.134+8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001411931] Chr19:49818483 [GRCh38]
Chr19:50321740 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1317-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001448718] Chr19:49832091 [GRCh38]
Chr19:50335348 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1527C>T (p.Arg509=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001429094] Chr19:49835030 [GRCh38]
Chr19:50338287 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001437874] Chr19:49818566 [GRCh38]
Chr19:50321823 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1053C>G (p.Ala351=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001406264] Chr19:49830839 [GRCh38]
Chr19:50334096 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001472539] Chr19:49818562 [GRCh38]
Chr19:50321819 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1317-3del deletion Charcot-Marie-Tooth disease type 2 [RCV001514896] Chr19:49832093 [GRCh38]
Chr19:50335350 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1230+148C>T single nucleotide variant not provided [RCV001671051] Chr19:49831609 [GRCh38]
Chr19:50334866 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1374+10G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001465934] Chr19:49832167 [GRCh38]
Chr19:50335424 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1231-5dup duplication Charcot-Marie-Tooth disease type 2 [RCV001511271] Chr19:49831926..49831927 [GRCh38]
Chr19:50335183..50335184 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1953C>T (p.Leu651=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001483945] Chr19:49835933 [GRCh38]
Chr19:50339190 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-4A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001480415] Chr19:49818567 [GRCh38]
Chr19:50321824 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.897G>A (p.Leu299=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001399067] Chr19:49830588 [GRCh38]
Chr19:50333845 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2085C>T (p.Leu695=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001426798] Chr19:49836345 [GRCh38]
Chr19:50339602 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.372G>C (p.Leu124=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001459765] Chr19:49828515 [GRCh38]
Chr19:50331772 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1143A>G (p.Pro381=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001519681] Chr19:49831374 [GRCh38]
Chr19:50334631 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.618G>A (p.Pro206=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001476317]|not provided [RCV004584913] Chr19:49829878 [GRCh38]
Chr19:50333135 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.339C>T (p.Leu113=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001460456] Chr19:49828482 [GRCh38]
Chr19:50331739 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1497C>T (p.His499=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001483409] Chr19:49835000 [GRCh38]
Chr19:50338257 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2071T>C (p.Leu691=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001425848] Chr19:49836331 [GRCh38]
Chr19:50339588 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.114C>T (p.His38=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001483720] Chr19:49818455 [GRCh38]
Chr19:50321712 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.9C>T (p.Pro3=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001454728] Chr19:49818350 [GRCh38]
Chr19:50321607 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.942C>T (p.Pro314=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001456313]|not provided [RCV003426111] Chr19:49830728 [GRCh38]
Chr19:50333985 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1209C>T (p.Ser403=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001426466] Chr19:49831440 [GRCh38]
Chr19:50334697 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2130T>A (p.Pro710=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001459823] Chr19:49836390 [GRCh38]
Chr19:50339647 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1202C>T (p.Ala401Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001882820]|not provided [RCV001756475] Chr19:49831433 [GRCh38]
Chr19:50334690 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup) duplication Charcot-Marie-Tooth disease type 2 [RCV002539876]|not provided [RCV001756544] Chr19:49831369..49831370 [GRCh38]
Chr19:50334626..50334627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1691C>T (p.Ala564Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002032766]|Inborn genetic diseases [RCV004953015]|not provided [RCV001756476] Chr19:49835550 [GRCh38]
Chr19:50338807 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.314G>A (p.Gly105Asp) single nucleotide variant not provided [RCV001768818] Chr19:49828457 [GRCh38]
Chr19:50331714 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1375-58A>G single nucleotide variant not provided [RCV001800064] Chr19:49832250 [GRCh38]
Chr19:50335507 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003120703]|Inborn genetic diseases [RCV002542473]|not provided [RCV001815866] Chr19:49818568 [GRCh38]
Chr19:50321825 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.525+28G>A single nucleotide variant not provided [RCV001797469] Chr19:49829118 [GRCh38]
Chr19:50332375 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.689-27G>C single nucleotide variant not provided [RCV001797494] Chr19:49830061 [GRCh38]
Chr19:50333318 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1906C>A (p.Arg636=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001895879] Chr19:49835886 [GRCh38]
Chr19:50339143 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.232C>G (p.Pro78Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002045801] Chr19:49819223 [GRCh38]
Chr19:50322480 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.29G>T (p.Arg10Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001893470] Chr19:49818370 [GRCh38]
Chr19:50321627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1677G>T (p.Met559Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002045152] Chr19:49835536 [GRCh38]
Chr19:50338793 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del) deletion Charcot-Marie-Tooth disease type 2 [RCV001873861] Chr19:49835155..49835163 [GRCh38]
Chr19:50338412..50338420 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002025638] Chr19:49835004 [GRCh38]
Chr19:50338261 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001864234] Chr19:49835069..49835072 [GRCh38]
Chr19:50338326..50338329 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001909764] Chr19:49835107 [GRCh38]
Chr19:50338364 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1244C>T (p.Ala415Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001893995] Chr19:49831949 [GRCh38]
Chr19:50335206 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1746+17C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002021893] Chr19:49835622 [GRCh38]
Chr19:50338879 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.697G>A (p.Gly233Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001967083]|Inborn genetic diseases [RCV004042198] Chr19:49830096 [GRCh38]
Chr19:50333353 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1438del (p.Leu480fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001913193] Chr19:49832370 [GRCh38]
Chr19:50335627 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.931C>G (p.Gln311Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001987236] Chr19:49830717 [GRCh38]
Chr19:50333974 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.20G>T (p.Gly7Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001872929] Chr19:49818361 [GRCh38]
Chr19:50321618 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2146+17G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001927444]|not provided [RCV004693895] Chr19:49836423 [GRCh38]
Chr19:50339680 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001983762] Chr19:49836325 [GRCh38]
Chr19:50339582 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002022551] Chr19:49835931 [GRCh38]
Chr19:50339188 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.131T>G (p.Ile44Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002022519] Chr19:49818472 [GRCh38]
Chr19:50321729 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_030973.4(MED25):c.787C>T (p.Gln263Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001951619] Chr19:49830186 [GRCh38]
Chr19:50333443 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1250T>C (p.Val417Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002032256] Chr19:49831955 [GRCh38]
Chr19:50335212 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.344C>T (p.Ala115Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001885595] Chr19:49828487 [GRCh38]
Chr19:50331744 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001924479] Chr19:49830865 [GRCh38]
Chr19:50334122 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup) duplication Charcot-Marie-Tooth disease type 2 [RCV001879003] Chr19:49835768..49835769 [GRCh38]
Chr19:50339025..50339026 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.421G>C (p.Val141Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002039060] Chr19:49828986 [GRCh38]
Chr19:50332243 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.602dup (p.Ala202fs) duplication Charcot-Marie-Tooth disease type 2 [RCV002035044]|Charcot-Marie-Tooth disease type 2B2 [RCV005369974] Chr19:49829855..49829856 [GRCh38]
Chr19:50333112..50333113 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.1682G>T (p.Gly561Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001976013] Chr19:49835541 [GRCh38]
Chr19:50338798 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001867004] Chr19:49835868 [GRCh38]
Chr19:50339125 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1482C>T (p.Phe494=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001900434] Chr19:49832415 [GRCh38]
Chr19:50335672 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1157C>T (p.Ala386Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002014106] Chr19:49831388 [GRCh38]
Chr19:50334645 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.330C>A (p.Ser110Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001897901] Chr19:49828473 [GRCh38]
Chr19:50331730 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1873G>A (p.Ala625Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001936388] Chr19:49835853 [GRCh38]
Chr19:50339110 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1504del (p.His502fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001879172] Chr19:49835003 [GRCh38]
Chr19:50338260 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.287C>G (p.Thr96Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001992788] Chr19:49819278 [GRCh38]
Chr19:50322535 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.906C>A (p.Arg302=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002016473] Chr19:49830597 [GRCh38]
Chr19:50333854 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001879342] Chr19:49835562 [GRCh38]
Chr19:50338819 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.956C>T (p.Pro319Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001933017] Chr19:49830742 [GRCh38]
Chr19:50333999 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.229G>C (p.Ala77Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002015915] Chr19:49819220 [GRCh38]
Chr19:50322477 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1852C>T (p.Pro618Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001978955] Chr19:49835832 [GRCh38]
Chr19:50339089 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1230+7G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001903615]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003120741] Chr19:49831468 [GRCh38]
Chr19:50334725 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.320del (p.Gly107fs) deletion Charcot-Marie-Tooth disease type 2 [RCV002012882] Chr19:49828459 [GRCh38]
Chr19:50331716 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.688+20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001901806] Chr19:49829968 [GRCh38]
Chr19:50333225 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1101+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002049461] Chr19:49830888 [GRCh38]
Chr19:50334145 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001920600] Chr19:49835091..49835104 [GRCh38]
Chr19:50338348..50338361 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001884445] Chr19:49835781 [GRCh38]
Chr19:50339038 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1747-15G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001939082] Chr19:49835712 [GRCh38]
Chr19:50338969 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.846G>T (p.Gln282His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001993965]|Inborn genetic diseases [RCV005374979] Chr19:49830537 [GRCh38]
Chr19:50333794 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405T>C (p.Ile135=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001905902] Chr19:49828970 [GRCh38]
Chr19:50332227 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001959233] Chr19:49830846 [GRCh38]
Chr19:50334103 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del) deletion Charcot-Marie-Tooth disease type 2 [RCV001938685] Chr19:49831370..49831387 [GRCh38]
Chr19:50334627..50334644 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1861C>T (p.Pro621Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001876981] Chr19:49835841 [GRCh38]
Chr19:50339098 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1395C>A (p.Phe465Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001955339] Chr19:49832328 [GRCh38]
Chr19:50335585 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.800C>T (p.Pro267Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001982241]|Inborn genetic diseases [RCV002561448] Chr19:49830199 [GRCh38]
Chr19:50333456 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.943G>A (p.Gly315Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002012800]|Inborn genetic diseases [RCV004045433] Chr19:49830729 [GRCh38]
Chr19:50333986 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2193G>A (p.Pro731=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002046634] Chr19:49836893 [GRCh38]
Chr19:50340150 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001938044] Chr19:49835895 [GRCh38]
Chr19:50339152 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1322C>T (p.Thr441Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001940483] Chr19:49832105 [GRCh38]
Chr19:50335362 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.140_144del (p.Phe47fs) deletion Charcot-Marie-Tooth disease type 2 [RCV001980465] Chr19:49818575..49818579 [GRCh38]
Chr19:50321832..50321836 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.906C>T (p.Arg302=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001907216] Chr19:49830597 [GRCh38]
Chr19:50333854 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.440A>C (p.Asn147Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001918497] Chr19:49829005 [GRCh38]
Chr19:50332262 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001996063]|Inborn genetic diseases [RCV002642031] Chr19:49835736 [GRCh38]
Chr19:50338993 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002015567] Chr19:49831948 [GRCh38]
Chr19:50335205 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.506T>C (p.Leu169Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001992331] Chr19:49829071 [GRCh38]
Chr19:50332328 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV001916430] Chr19:49831372 [GRCh38]
Chr19:50334629 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1761A>T (p.Pro587=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002170155] Chr19:49835741 [GRCh38]
Chr19:50338998 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.181-4C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002145088] Chr19:49819168 [GRCh38]
Chr19:50322425 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002106579] Chr19:49832040 [GRCh38]
Chr19:50335297 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-14T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002111607] Chr19:49818557 [GRCh38]
Chr19:50321814 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.750C>G (p.Ala250=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002205443]|MED25-related disorder [RCV003923525] Chr19:49830149 [GRCh38]
Chr19:50333406 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.181-13C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002190096] Chr19:49819159 [GRCh38]
Chr19:50322416 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.525+20_525+34del deletion Charcot-Marie-Tooth disease type 2 [RCV002129710] Chr19:49829102..49829116 [GRCh38]
Chr19:50332359..50332373 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1966-10_1966-9del microsatellite Charcot-Marie-Tooth disease type 2 [RCV002148740] Chr19:49836213..49836214 [GRCh38]
Chr19:50339470..50339471 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-7C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002086384] Chr19:49832301 [GRCh38]
Chr19:50335558 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1483-13G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002087684] Chr19:49834973 [GRCh38]
Chr19:50338230 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.597C>G (p.Ala199=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002109199] Chr19:49829857 [GRCh38]
Chr19:50333114 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2181G>T (p.Pro727=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002071089] Chr19:49836881 [GRCh38]
Chr19:50340138 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.908-17C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002108098] Chr19:49830677 [GRCh38]
Chr19:50333934 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1170T>A (p.Gly390=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002188939] Chr19:49831401 [GRCh38]
Chr19:50334658 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.174G>A (p.Gly58=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002074682] Chr19:49818610 [GRCh38]
Chr19:50321867 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.689-11C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002109680] Chr19:49830077 [GRCh38]
Chr19:50333334 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1476C>T (p.Asn492=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002105789] Chr19:49832409 [GRCh38]
Chr19:50335666 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.404+16A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002191673] Chr19:49828563 [GRCh38]
Chr19:50331820 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.180+17C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002109229] Chr19:49818633 [GRCh38]
Chr19:50321890 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.819+15G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002112927] Chr19:49830233 [GRCh38]
Chr19:50333490 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.456G>A (p.Leu152=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002170990] Chr19:49829021 [GRCh38]
Chr19:50332278 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1102-14C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002080301] Chr19:49831319 [GRCh38]
Chr19:50334576 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.912G>A (p.Ser304=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002094548] Chr19:49830698 [GRCh38]
Chr19:50333955 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1966-12G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002173028] Chr19:49836214 [GRCh38]
Chr19:50339471 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1842G>C (p.Pro614=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002135282] Chr19:49835822 [GRCh38]
Chr19:50339079 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2115C>T (p.Pro705=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002078059] Chr19:49836375 [GRCh38]
Chr19:50339632 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1965+16G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002174733] Chr19:49835961 [GRCh38]
Chr19:50339218 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1747-13C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002131076] Chr19:49835714 [GRCh38]
Chr19:50338971 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.610C>T (p.Leu204=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002149231] Chr19:49829870 [GRCh38]
Chr19:50333127 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1674+19C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002113093] Chr19:49835196 [GRCh38]
Chr19:50338453 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.243C>T (p.Tyr81=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002152853] Chr19:49819234 [GRCh38]
Chr19:50322491 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1102-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002206622] Chr19:49831324 [GRCh38]
Chr19:50334581 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1785C>T (p.Thr595=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002095536]|MED25-related disorder [RCV003951034] Chr19:49835765 [GRCh38]
Chr19:50339022 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.825C>G (p.Pro275=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002079066] Chr19:49830516 [GRCh38]
Chr19:50333773 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.213C>T (p.Phe71=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002174309] Chr19:49819204 [GRCh38]
Chr19:50322461 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.735C>G (p.Val245=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002191910] Chr19:49830134 [GRCh38]
Chr19:50333391 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.888G>A (p.Lys296=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002094316] Chr19:49830579 [GRCh38]
Chr19:50333836 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+20G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002165308] Chr19:49832041 [GRCh38]
Chr19:50335298 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.414G>A (p.Thr138=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002134036] Chr19:49828979 [GRCh38]
Chr19:50332236 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.102G>T (p.Gly34=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002128512] Chr19:49818443 [GRCh38]
Chr19:50321700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.820-4A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002170120] Chr19:49830507 [GRCh38]
Chr19:50333764 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-4A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002202776]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV005232811] Chr19:49829782 [GRCh38]
Chr19:50333039 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2147-16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002137374] Chr19:49836831 [GRCh38]
Chr19:50340088 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1102-10C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002198569] Chr19:49831323 [GRCh38]
Chr19:50334580 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1747-18T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002144350] Chr19:49835709 [GRCh38]
Chr19:50338966 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1704G>A (p.Leu568=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002177834] Chr19:49835563 [GRCh38]
Chr19:50338820 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.820-14C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002183759] Chr19:49830497 [GRCh38]
Chr19:50333754 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-15T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002217684] Chr19:49818556 [GRCh38]
Chr19:50321813 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1734C>T (p.Pro578=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002162860] Chr19:49835593 [GRCh38]
Chr19:50338850 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1080A>C (p.Ala360=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002220346] Chr19:49830866 [GRCh38]
Chr19:50334123 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.305+15A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002179397] Chr19:49819311 [GRCh38]
Chr19:50322568 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+12C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002220793] Chr19:49836418 [GRCh38]
Chr19:50339675 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1746+20G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002180879] Chr19:49835625 [GRCh38]
Chr19:50338882 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.288C>G (p.Thr96=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002101069] Chr19:49819279 [GRCh38]
Chr19:50322536 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-20G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002101080] Chr19:49832288 [GRCh38]
Chr19:50335545 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.688+16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002103206] Chr19:49829964 [GRCh38]
Chr19:50333221 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1675-6G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002220642] Chr19:49835528 [GRCh38]
Chr19:50338785 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.600C>G (p.Pro200=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002180036] Chr19:49829860 [GRCh38]
Chr19:50333117 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser) indel Charcot-Marie-Tooth disease type 2 [RCV003112622] Chr19:49835747..49835748 [GRCh38]
Chr19:50339004..50339005 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1391del (p.Leu464fs) deletion Charcot-Marie-Tooth disease type 2 [RCV003116189] Chr19:49832322 [GRCh38]
Chr19:50335579 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.650C>T (p.Pro217Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003117226] Chr19:49829910 [GRCh38]
Chr19:50333167 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003095883]|not provided [RCV002261622] Chr19:49831421 [GRCh38]
Chr19:50334678 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.801C>A (p.Pro267=) single nucleotide variant Inborn genetic diseases [RCV002419249] Chr19:49830200 [GRCh38]
Chr19:50333457 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.405-4G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002838025] Chr19:49828966 [GRCh38]
Chr19:50332223 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.575G>A (p.Arg192Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002726916]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV005233008] Chr19:49829835 [GRCh38]
Chr19:50333092 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.134+14C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002837517] Chr19:49818489 [GRCh38]
Chr19:50321746 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.973G>C (p.Ala325Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002993871] Chr19:49830759 [GRCh38]
Chr19:50334016 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.693_695del (p.Gly233del) deletion Charcot-Marie-Tooth disease type 2 [RCV002771627] Chr19:49830090..49830092 [GRCh38]
Chr19:50333347..50333349 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.181-8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002972626] Chr19:49819164 [GRCh38]
Chr19:50322421 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1482+12G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002771424] Chr19:49832427 [GRCh38]
Chr19:50335684 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.947T>G (p.Val316Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002730762] Chr19:49830733 [GRCh38]
Chr19:50333990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1983C>T (p.Pro661=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002972405] Chr19:49836243 [GRCh38]
Chr19:50339500 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+8G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002795009] Chr19:49836414 [GRCh38]
Chr19:50339671 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1805C>T (p.Thr602Met) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002690490]|Inborn genetic diseases [RCV002690491] Chr19:49835785 [GRCh38]
Chr19:50339042 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1801del (p.Ala601fs) deletion Charcot-Marie-Tooth disease type 2 [RCV002730278] Chr19:49835778 [GRCh38]
Chr19:50339035 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003012499] Chr19:49836397 [GRCh38]
Chr19:50339654 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.135-17A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002776211] Chr19:49818554 [GRCh38]
Chr19:50321811 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.781_791del (p.Pro261fs) deletion Inborn genetic diseases [RCV002840958] Chr19:49830172..49830182 [GRCh38]
Chr19:50333429..50333439 [GRCh37]
Chr19:19q13.33		 pathogenic
NM_030973.4(MED25):c.1911C>T (p.Pro637=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003012067] Chr19:49835891 [GRCh38]
Chr19:50339148 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002861413] Chr19:49832146 [GRCh38]
Chr19:50335403 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.809C>A (p.Pro270Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003073871]|Inborn genetic diseases [RCV003056803] Chr19:49830208 [GRCh38]
Chr19:50333465 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.438C>T (p.Cys146=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002815619] Chr19:49829003 [GRCh38]
Chr19:50332260 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1106G>A (p.Gly369Asp) single nucleotide variant Inborn genetic diseases [RCV002882889] Chr19:49831337 [GRCh38]
Chr19:50334594 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1991A>G (p.Gln664Arg) single nucleotide variant Inborn genetic diseases [RCV002817140] Chr19:49836251 [GRCh38]
Chr19:50339508 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1965+16G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003074864] Chr19:49835961 [GRCh38]
Chr19:50339218 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1317-20T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002863605] Chr19:49832080 [GRCh38]
Chr19:50335337 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.389A>G (p.Lys130Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003055371] Chr19:49828532 [GRCh38]
Chr19:50331789 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1231-20T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002889187] Chr19:49831916 [GRCh38]
Chr19:50335173 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1231-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002761711] Chr19:49831933 [GRCh38]
Chr19:50335190 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1680_1682del (p.Gly561del) deletion Charcot-Marie-Tooth disease type 2 [RCV002590690]|Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004796740] Chr19:49835536..49835538 [GRCh38]
Chr19:50338793..50338795 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002795851] Chr19:49836320 [GRCh38]
Chr19:50339577 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.820-5del deletion Charcot-Marie-Tooth disease type 2 [RCV002781571] Chr19:49830504 [GRCh38]
Chr19:50333761 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+8del deletion Charcot-Marie-Tooth disease type 2 [RCV002825461] Chr19:49836411 [GRCh38]
Chr19:50339668 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.1375-10T>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002820269] Chr19:49832298 [GRCh38]
Chr19:50335555 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1548G>A (p.Ser516=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002948900] Chr19:49835051 [GRCh38]
Chr19:50338308 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003020107] Chr19:49835892 [GRCh38]
Chr19:50339149 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2070G>C (p.Gln690His) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002909434] Chr19:49836330 [GRCh38]
Chr19:50339587 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.306-6dup duplication Inborn genetic diseases [RCV002869144] Chr19:49828439..49828440 [GRCh38]
Chr19:50331696..50331697 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.820-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003078254] Chr19:49830506 [GRCh38]
Chr19:50333763 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1101+14C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002736472] Chr19:49830901 [GRCh38]
Chr19:50334158 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.705C>G (p.Ala235=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002620452] Chr19:49830104 [GRCh38]
Chr19:50333361 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1188C>T (p.Ser396=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003035693] Chr19:49831419 [GRCh38]
Chr19:50334676 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.600C>A (p.Pro200=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002570329] Chr19:49829860 [GRCh38]
Chr19:50333117 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1975G>A (p.Gly659Arg) single nucleotide variant Inborn genetic diseases [RCV002784520] Chr19:49836235 [GRCh38]
Chr19:50339492 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1377C>A (p.Thr459=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002780396] Chr19:49832310 [GRCh38]
Chr19:50335567 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.915C>A (p.Pro305=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003078128] Chr19:49830701 [GRCh38]
Chr19:50333958 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1692A>T (p.Ala564=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002590512] Chr19:49835551 [GRCh38]
Chr19:50338808 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-5dup duplication Charcot-Marie-Tooth disease type 2 [RCV003018104] Chr19:49832300..49832301 [GRCh38]
Chr19:50335557..50335558 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1833C>G (p.Ala611=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002659265] Chr19:49835813 [GRCh38]
Chr19:50339070 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-15C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002926869] Chr19:49832293 [GRCh38]
Chr19:50335550 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.836G>A (p.Ser279Asn) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003077517] Chr19:49830527 [GRCh38]
Chr19:50333784 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2147-19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002620779] Chr19:49836828 [GRCh38]
Chr19:50340085 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.397G>A (p.Glu133Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002886409] Chr19:49828540 [GRCh38]
Chr19:50331797 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405-8C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002637186] Chr19:49828962 [GRCh38]
Chr19:50332219 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002736807] Chr19:49832022 [GRCh38]
Chr19:50335279 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003002016] Chr19:49835755 [GRCh38]
Chr19:50339012 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.28C>T (p.Arg10Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003021545] Chr19:49818369 [GRCh38]
Chr19:50321626 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003020485] Chr19:49830883 [GRCh38]
Chr19:50334140 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.170T>G (p.Phe57Cys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003053153] Chr19:49818606 [GRCh38]
Chr19:50321863 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.189dup (p.Thr64fs) duplication Charcot-Marie-Tooth disease type 2 [RCV003080303] Chr19:49819174..49819175 [GRCh38]
Chr19:50322431..50322432 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1482+21dup duplication Charcot-Marie-Tooth disease type 2 [RCV002928877] Chr19:49832430..49832431 [GRCh38]
Chr19:50335687..50335688 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.181-20T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002932065] Chr19:49819152 [GRCh38]
Chr19:50322409 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1416G>A (p.Gln472=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002786435] Chr19:49832349 [GRCh38]
Chr19:50335606 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003024328] Chr19:49835552 [GRCh38]
Chr19:50338809 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1722C>T (p.Asp574=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003059191] Chr19:49835581 [GRCh38]
Chr19:50338838 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.794T>C (p.Leu265Pro) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003043664] Chr19:49830193 [GRCh38]
Chr19:50333450 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.895C>T (p.Leu299=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002700873] Chr19:49830586 [GRCh38]
Chr19:50333843 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1976G>T (p.Gly659Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002712110] Chr19:49836236 [GRCh38]
Chr19:50339493 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.259C>G (p.Pro87Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003025244] Chr19:49819250 [GRCh38]
Chr19:50322507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1102-13T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002711558]|not provided [RCV004694249] Chr19:49831320 [GRCh38]
Chr19:50334577 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.475A>G (p.Thr159Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003007922] Chr19:49829040 [GRCh38]
Chr19:50332297 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1304A>G (p.His435Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002575042] Chr19:49832009 [GRCh38]
Chr19:50335266 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.630G>A (p.Pro210=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002895004] Chr19:49829890 [GRCh38]
Chr19:50333147 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.404+4A>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003043468] Chr19:49828551 [GRCh38]
Chr19:50331808 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2121A>G (p.Gln707=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003056738] Chr19:49836381 [GRCh38]
Chr19:50339638 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002594850] Chr19:49835538 [GRCh38]
Chr19:50338795 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.689-5C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002643889] Chr19:49830083 [GRCh38]
Chr19:50333340 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1747-18del deletion Charcot-Marie-Tooth disease type 2 [RCV002572256] Chr19:49835709 [GRCh38]
Chr19:50338966 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.603G>A (p.Pro201=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002624187] Chr19:49829863 [GRCh38]
Chr19:50333120 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.969C>T (p.Ala323=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002918061] Chr19:49830755 [GRCh38]
Chr19:50334012 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.440A>G (p.Asn147Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002985242] Chr19:49829005 [GRCh38]
Chr19:50332262 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405-12C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003043145] Chr19:49828958 [GRCh38]
Chr19:50332215 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1296C>T (p.Tyr432=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002624297] Chr19:49832001 [GRCh38]
Chr19:50335258 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.1077G>A (p.Thr359=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002890450] Chr19:49830863 [GRCh38]
Chr19:50334120 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.769C>T (p.Leu257Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002745492] Chr19:49830168 [GRCh38]
Chr19:50333425 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1763C>T (p.Pro588Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002623983] Chr19:49835743 [GRCh38]
Chr19:50339000 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.311T>C (p.Met104Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003058851] Chr19:49828454 [GRCh38]
Chr19:50331711 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1512G>A (p.Ala504=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003058528]|MED25-related disorder [RCV003898715] Chr19:49835015 [GRCh38]
Chr19:50338272 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.908-6C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002740882]|not provided [RCV003427499] Chr19:49830688 [GRCh38]
Chr19:50333945 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.305+14C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003083374] Chr19:49819310 [GRCh38]
Chr19:50322567 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1323G>A (p.Thr441=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003056879] Chr19:49832106 [GRCh38]
Chr19:50335363 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002852074] Chr19:49835733 [GRCh38]
Chr19:50338990 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2132G>A (p.Arg711Gln) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002917403] Chr19:49836392 [GRCh38]
Chr19:50339649 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.819+7A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003009266] Chr19:49830225 [GRCh38]
Chr19:50333482 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.743C>T (p.Pro248Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002601697] Chr19:49830142 [GRCh38]
Chr19:50333399 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.98A>G (p.Glu33Gly) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002599210] Chr19:49818439 [GRCh38]
Chr19:50321696 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405-16C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003064798] Chr19:49828954 [GRCh38]
Chr19:50332211 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1230+7G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002721153] Chr19:49831468 [GRCh38]
Chr19:50334725 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.891T>C (p.Ala297=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002856890] Chr19:49830582 [GRCh38]
Chr19:50333839 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2003A>C (p.His668Pro) single nucleotide variant Inborn genetic diseases [RCV002674606] Chr19:49836263 [GRCh38]
Chr19:50339520 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405-20T>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003088911] Chr19:49828950 [GRCh38]
Chr19:50332207 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1788A>G (p.Val596=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002629746]|MED25-related disorder [RCV003936628]|not provided [RCV003420396] Chr19:49835768 [GRCh38]
Chr19:50339025 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003029182] Chr19:49835589 [GRCh38]
Chr19:50338846 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1101+15G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002647901] Chr19:49830902 [GRCh38]
Chr19:50334159 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer) microsatellite Charcot-Marie-Tooth disease type 2 [RCV002627655]|Tip-toe gait [RCV003318728] Chr19:49835019..49835020 [GRCh38]
Chr19:50338276..50338277 [GRCh37]
Chr19:19q13.33		 likely pathogenic|uncertain significance
NM_030973.4(MED25):c.1128G>A (p.Val376=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002598825] Chr19:49831359 [GRCh38]
Chr19:50334616 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.145G>C (p.Gly49Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002922692] Chr19:49818581 [GRCh38]
Chr19:50321838 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1359C>T (p.Ile453=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003011100] Chr19:49832142 [GRCh38]
Chr19:50335399 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1875T>A (p.Ala625=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002650111] Chr19:49835855 [GRCh38]
Chr19:50339112 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.134+17C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002578380] Chr19:49818492 [GRCh38]
Chr19:50321749 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1966-15T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002895461] Chr19:49836211 [GRCh38]
Chr19:50339468 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+8A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002672056] Chr19:49832029 [GRCh38]
Chr19:50335286 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.87A>G (p.Gly29=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003028661] Chr19:49818428 [GRCh38]
Chr19:50321685 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.200G>C (p.Ser67Thr) single nucleotide variant Inborn genetic diseases [RCV002835725] Chr19:49819191 [GRCh38]
Chr19:50322448 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1231-16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003091886] Chr19:49831920 [GRCh38]
Chr19:50335177 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.406G>A (p.Gly136Ser) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002770168] Chr19:49828971 [GRCh38]
Chr19:50332228 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1483-5C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002601931] Chr19:49834981 [GRCh38]
Chr19:50338238 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1674+8T>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003027208] Chr19:49835185 [GRCh38]
Chr19:50338442 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2160G>A (p.Leu720=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002938396] Chr19:49836860 [GRCh38]
Chr19:50340117 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1410G>A (p.Met470Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003044264] Chr19:49832343 [GRCh38]
Chr19:50335600 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.36G>C (p.Gly12=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002671545] Chr19:49818377 [GRCh38]
Chr19:50321634 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.112C>T (p.His38Tyr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002654667] Chr19:49818453 [GRCh38]
Chr19:50321710 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.58T>A (p.Phe20Ile) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002583707] Chr19:49818399 [GRCh38]
Chr19:50321656 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.787C>A (p.Gln263Lys) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002653814] Chr19:49830186 [GRCh38]
Chr19:50333443 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.520G>A (p.Gly174Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002633643] Chr19:49829085 [GRCh38]
Chr19:50332342 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.405-5G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003050606] Chr19:49828965 [GRCh38]
Chr19:50332222 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.357C>T (p.Ser119=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003067346] Chr19:49828500 [GRCh38]
Chr19:50331757 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1806G>A (p.Thr602=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002654358] Chr19:49835786 [GRCh38]
Chr19:50339043 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1602C>T (p.Val534=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002604143] Chr19:49835105 [GRCh38]
Chr19:50338362 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1131C>T (p.Ser377=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003072145] Chr19:49831362 [GRCh38]
Chr19:50334619 [GRCh37]
Chr19:19q13.33		 likely benign|uncertain significance
NM_030973.4(MED25):c.306-16C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003092948] Chr19:49828433 [GRCh38]
Chr19:50331690 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.340A>G (p.Ile114Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002587245] Chr19:49828483 [GRCh38]
Chr19:50331740 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1967C>T (p.Pro656Leu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002612280] Chr19:49836227 [GRCh38]
Chr19:50339484 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1686G>A (p.Gln562=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV002588089] Chr19:49835545 [GRCh38]
Chr19:50338802 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.671G>A (p.Arg224Gln) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003132641] Chr19:49829931 [GRCh38]
Chr19:50333188 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1702C>G (p.Leu568Val) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003131580] Chr19:49835561 [GRCh38]
Chr19:50338818 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.824C>T (p.Pro275Leu) single nucleotide variant Inborn genetic diseases [RCV003180890] Chr19:49830515 [GRCh38]
Chr19:50333772 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.820-11T>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003874343] Chr19:49830500 [GRCh38]
Chr19:50333757 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.525+11C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003872975] Chr19:49829101 [GRCh38]
Chr19:50332358 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1388C>G (p.Pro463Arg) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003388792] Chr19:49832321 [GRCh38]
Chr19:50335578 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_030973.4(MED25):c.735C>T (p.Val245=) single nucleotide variant not provided [RCV003425346] Chr19:49830134 [GRCh38]
Chr19:50333391 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1275G>A (p.Arg425=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003778403]|not provided [RCV003415369] Chr19:49831980 [GRCh38]
Chr19:50335237 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-12C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003876864] Chr19:49818559 [GRCh38]
Chr19:50321816 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2235T>C (p.Asp745=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003825228] Chr19:49836935 [GRCh38]
Chr19:50340192 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.123C>T (p.Leu41=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745101] Chr19:49818464 [GRCh38]
Chr19:50321721 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+14_1316+15del deletion Charcot-Marie-Tooth disease type 2 [RCV003745133] Chr19:49832035..49832036 [GRCh38]
Chr19:50335292..50335293 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1747-14dup duplication Charcot-Marie-Tooth disease type 2 [RCV003745079] Chr19:49835712..49835713 [GRCh38]
Chr19:50338969..50338970 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.306-16C>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581403] Chr19:49828433 [GRCh38]
Chr19:50331690 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1230+20A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743206] Chr19:49831481 [GRCh38]
Chr19:50334738 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.965A>G (p.Gln322Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745272] Chr19:49830751 [GRCh38]
Chr19:50334008 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.186G>C (p.Gly62=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745278] Chr19:49819177 [GRCh38]
Chr19:50322434 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1101+8C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745196] Chr19:49830895 [GRCh38]
Chr19:50334152 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1038G>A (p.Leu346=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743265] Chr19:49830824 [GRCh38]
Chr19:50334081 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1527C>G (p.Arg509=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745291] Chr19:49835030 [GRCh38]
Chr19:50338287 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1749C>A (p.Leu583=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745621] Chr19:49835729 [GRCh38]
Chr19:50338986 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.601C>A (p.Pro201Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743350] Chr19:49829861 [GRCh38]
Chr19:50333118 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.181-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743414] Chr19:49819163 [GRCh38]
Chr19:50322420 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.48C>T (p.Ala16=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581144] Chr19:49818389 [GRCh38]
Chr19:50321646 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.210G>A (p.Val70=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744424] Chr19:49819201 [GRCh38]
Chr19:50322458 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1482+14A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581193] Chr19:49832429 [GRCh38]
Chr19:50335686 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-17C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582534] Chr19:49829769 [GRCh38]
Chr19:50333026 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.750C>T (p.Ala250=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745072]|not provided [RCV004598274] Chr19:49830149 [GRCh38]
Chr19:50333406 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1521G>A (p.Glu507=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582394] Chr19:49835024 [GRCh38]
Chr19:50338281 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.774A>G (p.Ser258=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582408] Chr19:49830173 [GRCh38]
Chr19:50333430 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.820-16_820-9del microsatellite Charcot-Marie-Tooth disease type 2 [RCV003743297] Chr19:49830485..49830492 [GRCh38]
Chr19:50333742..50333749 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1317-19C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003583052] Chr19:49832081 [GRCh38]
Chr19:50335338 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1263C>G (p.Thr421=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745633] Chr19:49831968 [GRCh38]
Chr19:50335225 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1230+12G>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745255] Chr19:49831473 [GRCh38]
Chr19:50334730 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.819+9A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003811361] Chr19:49830227 [GRCh38]
Chr19:50333484 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.404+12dup duplication Charcot-Marie-Tooth disease type 2 [RCV003743464] Chr19:49828554..49828555 [GRCh38]
Chr19:50331811..50331812 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.903T>G (p.Pro301=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743496] Chr19:49830594 [GRCh38]
Chr19:50333851 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-13C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582576] Chr19:49829773 [GRCh38]
Chr19:50333030 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-15T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745864] Chr19:49818556 [GRCh38]
Chr19:50321813 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1116C>G (p.Ala372=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581300] Chr19:49831347 [GRCh38]
Chr19:50334604 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.819+19A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745036] Chr19:49830237 [GRCh38]
Chr19:50333494 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-11C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582046] Chr19:49829775 [GRCh38]
Chr19:50333032 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.305+7T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744155] Chr19:49819303 [GRCh38]
Chr19:50322560 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.342C>A (p.Ile114=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582317] Chr19:49828485 [GRCh38]
Chr19:50331742 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1965+14G>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743087] Chr19:49835959 [GRCh38]
Chr19:50339216 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.525+12A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743441] Chr19:49829102 [GRCh38]
Chr19:50332359 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.123C>G (p.Leu41=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743488] Chr19:49818464 [GRCh38]
Chr19:50321721 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.804C>T (p.Val268=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003855183] Chr19:49830203 [GRCh38]
Chr19:50333460 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.820-10C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582483] Chr19:49830501 [GRCh38]
Chr19:50333758 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1395C>T (p.Phe465=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745038] Chr19:49832328 [GRCh38]
Chr19:50335585 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1599C>T (p.Phe533=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745113] Chr19:49835102 [GRCh38]
Chr19:50338359 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+23del deletion Charcot-Marie-Tooth disease type 2 [RCV003581474] Chr19:49832041 [GRCh38]
Chr19:50335298 [GRCh37]
Chr19:19q13.33		 benign
NM_030973.4(MED25):c.135-11T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582817] Chr19:49818560 [GRCh38]
Chr19:50321817 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+20G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582972] Chr19:49832041 [GRCh38]
Chr19:50335298 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1615C>G (p.Gln539Glu) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743331] Chr19:49835118 [GRCh38]
Chr19:50338375 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2146+9A>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582373] Chr19:49836415 [GRCh38]
Chr19:50339672 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1731G>A (p.Arg577=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003744285] Chr19:49835590 [GRCh38]
Chr19:50338847 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+12T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003581229] Chr19:49832033 [GRCh38]
Chr19:50335290 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2199G>T (p.Leu733=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582649] Chr19:49836899 [GRCh38]
Chr19:50340156 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.189G>A (p.Gly63=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745034] Chr19:49819180 [GRCh38]
Chr19:50322437 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1482+16G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003582720] Chr19:49832431 [GRCh38]
Chr19:50335688 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.526-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003743472] Chr19:49829783 [GRCh38]
Chr19:50333040 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1966-18CT[2] microsatellite Charcot-Marie-Tooth disease type 2 [RCV003745169] Chr19:49836208..49836209 [GRCh38]
Chr19:50339465..50339466 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.192C>A (p.Thr64=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745845] Chr19:49819183 [GRCh38]
Chr19:50322440 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1746+18G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003822922] Chr19:49835623 [GRCh38]
Chr19:50338880 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_030973.4(MED25):c.181-17C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745990] Chr19:49819155 [GRCh38]
Chr19:50322412 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1078G>A (p.Ala360Thr) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003870382] Chr19:49830864 [GRCh38]
Chr19:50334121 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.316G>C (p.Gly106Arg) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003745955] Chr19:49828459 [GRCh38]
Chr19:50331716 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1272G>A (p.Thr424=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003870670] Chr19:49831977 [GRCh38]
Chr19:50335234 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.306-6C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV003823739] Chr19:49828443 [GRCh38]
Chr19:50331700 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1406G>A (p.Arg469Lys) single nucleotide variant Inborn genetic diseases [RCV004421899] Chr19:49832339 [GRCh38]
Chr19:50335596 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1099A>G (p.Met367Val) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV005230620]|Inborn genetic diseases [RCV004421898] Chr19:49830885 [GRCh38]
Chr19:50334142 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1057G>A (p.Gly353Ser) single nucleotide variant Inborn genetic diseases [RCV004421897] Chr19:49830843 [GRCh38]
Chr19:50334100 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2T>G (p.Met1Arg) single nucleotide variant Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV003988254] Chr19:49818343 [GRCh38]
Chr19:50321600 [GRCh37]
Chr19:19q13.33		 likely pathogenic
NM_030973.4(MED25):c.684G>A (p.Leu228=) single nucleotide variant MED25-related disorder [RCV003926786] Chr19:49829944 [GRCh38]
Chr19:50333201 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1887C>T (p.Pro629=) single nucleotide variant not provided [RCV003887674] Chr19:49835867 [GRCh38]
Chr19:50339124 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.264C>T (p.Thr88=) single nucleotide variant MED25-related disorder [RCV003949713] Chr19:49819255 [GRCh38]
Chr19:50322512 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1950_1951insTT (p.Leu651fs) insertion Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome [RCV004594734] Chr19:49835930..49835931 [GRCh38]
Chr19:50339187..50339188 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_50331686)_(50367680_?)del deletion Developmental and epileptic encephalopathy, 12 [RCV004581119] Chr19:50331686..50367680 [GRCh37]
Chr19:19q13.33		 pathogenic
NC_000019.9:g.(?_50332011)_(50333471_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV004581143] Chr19:50332011..50333471 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2180C>T (p.Pro727Leu) single nucleotide variant Inborn genetic diseases [RCV004645131] Chr19:49836880 [GRCh38]
Chr19:50340137 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.734T>C (p.Val245Ala) single nucleotide variant Inborn genetic diseases [RCV004645130] Chr19:49830133 [GRCh38]
Chr19:50333390 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1238A>C (p.Lys413Thr) single nucleotide variant Inborn genetic diseases [RCV004956393] Chr19:49831943 [GRCh38]
Chr19:50335200 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.479C>T (p.Thr160Met) single nucleotide variant Inborn genetic diseases [RCV004956391] Chr19:49829044 [GRCh38]
Chr19:50332301 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1924G>T (p.Ala642Ser) single nucleotide variant Inborn genetic diseases [RCV004956394] Chr19:49835904 [GRCh38]
Chr19:50339161 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1681G>A (p.Gly561Arg) single nucleotide variant Inborn genetic diseases [RCV004952010] Chr19:49835540 [GRCh38]
Chr19:50338797 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.650C>A (p.Pro217Gln) single nucleotide variant Inborn genetic diseases [RCV004956392] Chr19:49829910 [GRCh38]
Chr19:50333167 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.427C>T (p.Leu143Phe) single nucleotide variant Inborn genetic diseases [RCV004952009] Chr19:49828992 [GRCh38]
Chr19:50332249 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.78C>T (p.Ala26=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005105648] Chr19:49818419 [GRCh38]
Chr19:50321676 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1176G>A (p.Gln392=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005087791] Chr19:49831407 [GRCh38]
Chr19:50334664 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.105C>T (p.Leu35=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005174501] Chr19:49818446 [GRCh38]
Chr19:50321703 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.405-18T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005085809] Chr19:49828952 [GRCh38]
Chr19:50332209 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1702C>T (p.Leu568=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005065979] Chr19:49835561 [GRCh38]
Chr19:50338818 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2082A>G (p.Pro694=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005191316] Chr19:49836342 [GRCh38]
Chr19:50339599 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1316+18G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005149993] Chr19:49832039 [GRCh38]
Chr19:50335296 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1842G>A (p.Pro614=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005176602] Chr19:49835822 [GRCh38]
Chr19:50339079 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.588G>A (p.Glu196=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005117998] Chr19:49829848 [GRCh38]
Chr19:50333105 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.105C>G (p.Leu35=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005187333] Chr19:49818446 [GRCh38]
Chr19:50321703 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2055C>T (p.Gly685=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005115756] Chr19:49836315 [GRCh38]
Chr19:50339572 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1859G>T (p.Gly620Val) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005114940] Chr19:49835839 [GRCh38]
Chr19:50339096 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2220C>T (p.Asp740=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005184168] Chr19:49836920 [GRCh38]
Chr19:50340177 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1230+11dup duplication Charcot-Marie-Tooth disease type 2 [RCV005190964] Chr19:49831471..49831472 [GRCh38]
Chr19:50334728..50334729 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001378355.1(MED25):c.2217G>A (p.Val739=) single nucleotide variant not provided [RCV005245227] Chr19:49838650 [GRCh38]
Chr19:50341907 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.6C>T (p.Val2=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005187668] Chr19:49818347 [GRCh38]
Chr19:50321604 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.820-12T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005143976] Chr19:49830499 [GRCh38]
Chr19:50333756 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1491C>T (p.Cys497=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005144180] Chr19:49834994 [GRCh38]
Chr19:50338251 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1857A>G (p.Gln619=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005128866] Chr19:49835837 [GRCh38]
Chr19:50339094 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2181G>C (p.Pro727=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005078554] Chr19:49836881 [GRCh38]
Chr19:50340138 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.939T>A (p.Ala313=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005134967] Chr19:49830725 [GRCh38]
Chr19:50333982 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.739C>T (p.Leu247=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005068719] Chr19:49830138 [GRCh38]
Chr19:50333395 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1747-20C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005139368] Chr19:49835707 [GRCh38]
Chr19:50338964 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1674+17C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005193713] Chr19:49835194 [GRCh38]
Chr19:50338451 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1375-16T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005193591] Chr19:49832292 [GRCh38]
Chr19:50335549 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.135-12C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005142187] Chr19:49818559 [GRCh38]
Chr19:50321816 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1902C>T (p.Ile634=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005192002] Chr19:49835882 [GRCh38]
Chr19:50339139 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.306-15G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005076567] Chr19:49828434 [GRCh38]
Chr19:50331691 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.345G>A (p.Ala115=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005083719] Chr19:49828488 [GRCh38]
Chr19:50331745 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1830T>G (p.Thr610=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005188168] Chr19:49835810 [GRCh38]
Chr19:50339067 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2146+13G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005176491] Chr19:49836419 [GRCh38]
Chr19:50339676 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2099del (p.Pro700fs) deletion Charcot-Marie-Tooth disease type 2 [RCV005070471] Chr19:49836358 [GRCh38]
Chr19:50339615 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2147-13C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005071661] Chr19:49836834 [GRCh38]
Chr19:50340091 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.689-18C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005108839] Chr19:49830070 [GRCh38]
Chr19:50333327 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1374+18G>A single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005126365] Chr19:49832175 [GRCh38]
Chr19:50335432 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.134+15C>T single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005200294] Chr19:49818490 [GRCh38]
Chr19:50321747 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.2109C>T (p.Ser703=) single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005111837] Chr19:49836369 [GRCh38]
Chr19:50339626 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.688+14A>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005154678] Chr19:49829962 [GRCh38]
Chr19:50333219 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.181-14T>C single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005070089] Chr19:49819158 [GRCh38]
Chr19:50322415 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.1966-5C>G single nucleotide variant Charcot-Marie-Tooth disease type 2 [RCV005180911] Chr19:49836221 [GRCh38]
Chr19:50339478 [GRCh37]
Chr19:19q13.33		 likely benign
NM_030973.4(MED25):c.548T>C (p.Val183Ala) single nucleotide variant Inborn genetic diseases [RCV005364742] Chr19:49829808 [GRCh38]
Chr19:50333065 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.2186C>T (p.Pro729Leu) single nucleotide variant Inborn genetic diseases [RCV005380351] Chr19:49836886 [GRCh38]
Chr19:50340143 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1825G>A (p.Gly609Ser) single nucleotide variant Inborn genetic diseases [RCV005364739] Chr19:49835805 [GRCh38]
Chr19:50339062 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_030973.4(MED25):c.1768C>T (p.Pro590Ser) single nucleotide variant Inborn genetic diseases [RCV005364741] Chr19:49835748 [GRCh38]
Chr19:50339005 [GRCh37]
Chr19:19q13.33		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2257
Count of miRNA genes:703
Interacting mature miRNAs:833
Transcripts:ENST00000312865, ENST00000538643, ENST00000593595, ENST00000593636, ENST00000593767, ENST00000594998, ENST00000595185, ENST00000599722
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
D19S907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371951,061,330 - 51,061,544UniSTSGRCh37
Build 361955,753,142 - 55,753,356RGDNCBI36
Celera1948,112,630 - 48,112,850RGD
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.3UniSTS
HuRef1947,398,096 - 47,398,316UniSTS
Marshfield Genetic Map1978.08RGD
Marshfield Genetic Map1978.08UniSTS
Genethon Genetic Map1981.7UniSTS
deCODE Assembly Map1983.51UniSTS
GeneMap99-GB4 RH Map19272.69UniSTS
NCBI RH Map19533.4UniSTS
D19S902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,332,057 - 48,332,271UniSTSGRCh37
Build 361953,023,869 - 53,024,083RGDNCBI36
Celera1945,137,758 - 45,137,968RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19qUniSTS
HuRef1944,758,758 - 44,758,960UniSTS
Marshfield Genetic Map1972.72UniSTS
Marshfield Genetic Map1972.72RGD
Genethon Genetic Map1976.2UniSTS
deCODE Assembly Map1976.15UniSTS
G68144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,330,698 - 50,330,868UniSTSGRCh37
Build 361955,022,510 - 55,022,680RGDNCBI36
Celera1947,200,149 - 47,200,319RGD
Cytogenetic Map19q13.3UniSTS
HuRef1946,707,042 - 46,707,212UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1948 465 2270 7303 6469 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF447873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ617479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY533507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG770032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI520216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU392519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000312865   ⟹   ENSP00000326767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,289 - 49,836,979 (+)Ensembl
Ensembl Acc Id: ENST00000538643   ⟹   ENSP00000437496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,342 - 49,836,962 (+)Ensembl
Ensembl Acc Id: ENST00000593595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,282 - 49,818,882 (+)Ensembl
Ensembl Acc Id: ENST00000593636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,289 - 49,819,950 (+)Ensembl
Ensembl Acc Id: ENST00000593767   ⟹   ENSP00000470692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,289 - 49,840,383 (+)Ensembl
Ensembl Acc Id: ENST00000594998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,832,884 - 49,836,979 (+)Ensembl
Ensembl Acc Id: ENST00000595185   ⟹   ENSP00000470027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,342 - 49,836,962 (+)Ensembl
Ensembl Acc Id: ENST00000599722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,830,843 - 49,832,415 (+)Ensembl
Ensembl Acc Id: ENST00000612791   ⟹   ENSP00000479851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,342 - 49,836,962 (+)Ensembl
Ensembl Acc Id: ENST00000612854   ⟹   ENSP00000482155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,279 - 49,836,980 (+)Ensembl
Ensembl Acc Id: ENST00000617849   ⟹   ENSP00000484882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,279 - 49,836,980 (+)Ensembl
Ensembl Acc Id: ENST00000618715   ⟹   ENSP00000480731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,342 - 49,836,962 (+)Ensembl
Ensembl Acc Id: ENST00000620467   ⟹   ENSP00000482659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,279 - 49,836,980 (+)Ensembl
Ensembl Acc Id: ENST00000622402   ⟹   ENSP00000478074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,818,279 - 49,836,980 (+)Ensembl
RefSeq Acc Id: NM_001378355   ⟹   NP_001365284
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,818,289 - 49,840,384 (+)NCBI
T2T-CHM13v2.01952,818,427 - 52,840,522 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030973   ⟹   NP_112235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,818,289 - 49,836,979 (+)NCBI
GRCh371950,321,319 - 50,340,237 (+)NCBI
Build 361955,013,358 - 55,032,049 (+)NCBI Archive
HuRef1946,697,846 - 46,716,581 (+)ENTREZGENE
CHM1_11950,323,376 - 50,342,077 (+)NCBI
T2T-CHM13v2.01952,818,427 - 52,837,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054322265   ⟹   XP_054178240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,817,761 - 52,840,522 (+)NCBI
RefSeq Acc Id: XM_054322266   ⟹   XP_054178241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,817,584 - 52,837,117 (+)NCBI
RefSeq Acc Id: XM_054322267   ⟹   XP_054178242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,817,775 - 52,837,117 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001365284 (Get FASTA)   NCBI Sequence Viewer  
  NP_112235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178242 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD15565 (Get FASTA)   NCBI Sequence Viewer  
  AAG15589 (Get FASTA)   NCBI Sequence Viewer  
  AAH24312 (Get FASTA)   NCBI Sequence Viewer  
  AAH65297 (Get FASTA)   NCBI Sequence Viewer  
  AAM20739 (Get FASTA)   NCBI Sequence Viewer  
  AAQ04648 (Get FASTA)   NCBI Sequence Viewer  
  AAS45401 (Get FASTA)   NCBI Sequence Viewer  
  ACB88861 (Get FASTA)   NCBI Sequence Viewer  
  ACB88862 (Get FASTA)   NCBI Sequence Viewer  
  ACB88863 (Get FASTA)   NCBI Sequence Viewer  
  ACB88864 (Get FASTA)   NCBI Sequence Viewer  
  ACB88865 (Get FASTA)   NCBI Sequence Viewer  
  ACB88866 (Get FASTA)   NCBI Sequence Viewer  
  ACB88867 (Get FASTA)   NCBI Sequence Viewer  
  ACB88868 (Get FASTA)   NCBI Sequence Viewer  
  ACB88869 (Get FASTA)   NCBI Sequence Viewer  
  ACB88870 (Get FASTA)   NCBI Sequence Viewer  
  ACB88871 (Get FASTA)   NCBI Sequence Viewer  
  ACB88872 (Get FASTA)   NCBI Sequence Viewer  
  ACB88873 (Get FASTA)   NCBI Sequence Viewer  
  ACB88874 (Get FASTA)   NCBI Sequence Viewer  
  ACB88875 (Get FASTA)   NCBI Sequence Viewer  
  ACB88876 (Get FASTA)   NCBI Sequence Viewer  
  ACB88877 (Get FASTA)   NCBI Sequence Viewer  
  ACB88878 (Get FASTA)   NCBI Sequence Viewer  
  ACB88879 (Get FASTA)   NCBI Sequence Viewer  
  ACB88880 (Get FASTA)   NCBI Sequence Viewer  
  BAF82149 (Get FASTA)   NCBI Sequence Viewer  
  BAG51583 (Get FASTA)   NCBI Sequence Viewer  
  BAG61008 (Get FASTA)   NCBI Sequence Viewer  
  CAB66680 (Get FASTA)   NCBI Sequence Viewer  
  CAE84581 (Get FASTA)   NCBI Sequence Viewer  
  EAW52544 (Get FASTA)   NCBI Sequence Viewer  
  EAW52545 (Get FASTA)   NCBI Sequence Viewer  
  EAW52546 (Get FASTA)   NCBI Sequence Viewer  
  EAW52547 (Get FASTA)   NCBI Sequence Viewer  
  EAW52548 (Get FASTA)   NCBI Sequence Viewer  
  EAW52549 (Get FASTA)   NCBI Sequence Viewer  
  EAW52550 (Get FASTA)   NCBI Sequence Viewer  
  EAW52551 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000326767
  ENSP00000326767.5
  ENSP00000437496.1
  ENSP00000470692
GenBank Protein Q71SY5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_112235   ⟸   NM_030973
- Peptide Label: isoform 1
- UniProtKB: Q9H0L5 (UniProtKB/Swiss-Prot),   Q8TB55 (UniProtKB/Swiss-Prot),   Q707U4 (UniProtKB/Swiss-Prot),   Q6QMH5 (UniProtKB/Swiss-Prot),   Q6P143 (UniProtKB/Swiss-Prot),   O95783 (UniProtKB/Swiss-Prot),   B9TX30 (UniProtKB/Swiss-Prot),   A8K095 (UniProtKB/Swiss-Prot),   Q9HB34 (UniProtKB/Swiss-Prot),   Q71SY5 (UniProtKB/Swiss-Prot),   B4DQP6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365284   ⟸   NM_001378355
- Peptide Label: isoform 2
- UniProtKB: M0QZQ2 (UniProtKB/TrEMBL),   B3KP71 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000470027   ⟸   ENST00000595185
Ensembl Acc Id: ENSP00000482659   ⟸   ENST00000620467
Ensembl Acc Id: ENSP00000478074   ⟸   ENST00000622402
Ensembl Acc Id: ENSP00000482155   ⟸   ENST00000612854
Ensembl Acc Id: ENSP00000479851   ⟸   ENST00000612791
Ensembl Acc Id: ENSP00000326767   ⟸   ENST00000312865
Ensembl Acc Id: ENSP00000437496   ⟸   ENST00000538643
Ensembl Acc Id: ENSP00000484882   ⟸   ENST00000617849
Ensembl Acc Id: ENSP00000480731   ⟸   ENST00000618715
Ensembl Acc Id: ENSP00000470692   ⟸   ENST00000593767
RefSeq Acc Id: XP_054178241   ⟸   XM_054322266
- Peptide Label: isoform X2
- UniProtKB: B4DQP6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178240   ⟸   XM_054322265
- Peptide Label: isoform X1
- UniProtKB: B3KP71 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178242   ⟸   XM_054322267
- Peptide Label: isoform X2
- UniProtKB: B4DQP6 (UniProtKB/TrEMBL)
Protein Domains
Mediator complex subunit Med25 PTOV   Mediator complex subunit Med25 synapsin   Mediator of RNA polymerase II transcription subunit   SPIN-DOC-like zinc-finger

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q71SY5-F1-model_v2 AlphaFold Q71SY5 1-747 view protein structure

Promoters
RGD ID:13205183
Promoter ID:EPDNEW_H26172
Type:initiation region
Name:MED25_2
Description:mediator complex subunit 25
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26173  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,817,625 - 49,817,685EPDNEW
RGD ID:13205185
Promoter ID:EPDNEW_H26173
Type:initiation region
Name:MED25_1
Description:mediator complex subunit 25
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26172  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,818,289 - 49,818,349EPDNEW
RGD ID:6795112
Promoter ID:HG_KWN:30577
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000312881,   ENST00000355584,   ENST00000377077,   NM_030973,   UC010ENL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,012,711 - 55,013,477 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28845 AgrOrtholog
COSMIC MED25 COSMIC
Ensembl Genes ENSG00000104973 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312865 ENTREZGENE
  ENST00000312865.10 UniProtKB/Swiss-Prot
  ENST00000538643.5 UniProtKB/Swiss-Prot
  ENST00000593767 ENTREZGENE
Gene3D-CATH 2.40.290.30 UniProtKB/Swiss-Prot
GTEx ENSG00000104973 GTEx
HGNC ID HGNC:28845 ENTREZGENE
Human Proteome Map MED25 Human Proteome Map
InterPro Med25_PTOV UniProtKB/Swiss-Prot
  Mediator_Med25_SD1 UniProtKB/Swiss-Prot
  Mediator_Med25_VWA UniProtKB/Swiss-Prot
  PTOV_dom_sf UniProtKB/Swiss-Prot
  vWFA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:81857 UniProtKB/Swiss-Prot
NCBI Gene 81857 ENTREZGENE
OMIM 610197 OMIM
PANTHER MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 25 UniProtKB/Swiss-Prot
  PTHR12433 UniProtKB/Swiss-Prot
Pfam Med25 UniProtKB/Swiss-Prot
  Med25_SD1 UniProtKB/Swiss-Prot
  Med25_VWA UniProtKB/Swiss-Prot
PharmGKB PA134984839 PharmGKB
Superfamily-SCOP SSF53300 UniProtKB/Swiss-Prot
UniProt A8K095 ENTREZGENE
  B3KP71 ENTREZGENE, UniProtKB/TrEMBL
  B4DQP6 ENTREZGENE, UniProtKB/TrEMBL
  B9TX29_HUMAN UniProtKB/TrEMBL
  B9TX30 ENTREZGENE
  B9TX31_HUMAN UniProtKB/TrEMBL
  B9TX32_HUMAN UniProtKB/TrEMBL
  B9TX33_HUMAN UniProtKB/TrEMBL
  B9TX34_HUMAN UniProtKB/TrEMBL
  B9TX35_HUMAN UniProtKB/TrEMBL
  B9TX36_HUMAN UniProtKB/TrEMBL
  B9TX37_HUMAN UniProtKB/TrEMBL
  B9TX38_HUMAN UniProtKB/TrEMBL
  B9TX39_HUMAN UniProtKB/TrEMBL
  B9TX40_HUMAN UniProtKB/TrEMBL
  B9TX41_HUMAN UniProtKB/TrEMBL
  B9TX42_HUMAN UniProtKB/TrEMBL
  B9TX43_HUMAN UniProtKB/TrEMBL
  B9TX44_HUMAN UniProtKB/TrEMBL
  B9TX45_HUMAN UniProtKB/TrEMBL
  B9TX46_HUMAN UniProtKB/TrEMBL
  B9TX47_HUMAN UniProtKB/TrEMBL
  B9TX48_HUMAN UniProtKB/TrEMBL
  M0QYR4_HUMAN UniProtKB/TrEMBL
  M0QZQ2 ENTREZGENE, UniProtKB/TrEMBL
  MED25_HUMAN UniProtKB/Swiss-Prot
  O95783 ENTREZGENE
  Q6P143 ENTREZGENE
  Q6QMH5 ENTREZGENE
  Q707U4 ENTREZGENE
  Q71SY5 ENTREZGENE
  Q8TB55 ENTREZGENE
  Q9H0L5 ENTREZGENE
  Q9HB34 ENTREZGENE
UniProt Secondary A8K095 UniProtKB/Swiss-Prot
  B9TX30 UniProtKB/Swiss-Prot
  O95783 UniProtKB/Swiss-Prot
  Q6P143 UniProtKB/Swiss-Prot
  Q6QMH5 UniProtKB/Swiss-Prot
  Q707U4 UniProtKB/Swiss-Prot
  Q8TB55 UniProtKB/Swiss-Prot
  Q9H0L5 UniProtKB/Swiss-Prot
  Q9HB34 UniProtKB/Swiss-Prot