LMNB2 (lamin B2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LMNB2 (lamin B2) Homo sapiens
Analyze
Symbol: LMNB2
Name: lamin B2
RGD ID: 1345535
HGNC Page HGNC:6638
Description: Enables identical protein binding activity. Predicted to be involved in several processes, including heterochromatin formation; nucleus organization; and protein localization to nuclear envelope. Located in nuclear membrane. Implicated in partial lipodystrophy; primary autosomal recessive microcephaly; and progressive myoclonus epilepsy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPM9; FLJ26130; LAMB2; lamin B3; lamin-B2; LMN2; MCPH27; MGC2721
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,428,166 - 2,456,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,427,638 - 2,456,959 (-)EnsemblGRCh38hg38GRCh38
GRCh37192,428,164 - 2,456,957 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,379,164 - 2,407,958 (-)NCBINCBI36Build 36hg18NCBI36
Build 34192,379,164 - 2,407,958NCBI
Celera192,365,655 - 2,394,449 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,200,214 - 2,228,845 (-)NCBIHuRef
CHM1_1192,427,662 - 2,456,465 (-)NCBICHM1_1
T2T-CHM13v2.0192,403,957 - 2,432,750 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-nitrophenol  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
AM-251  (EXP)
aminoglutethimide  (EXP)
amphetamine  (ISO)
arsenite(3-)  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
beta-carotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
ciguatoxin CTX1B  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dioxygen  (EXP)
Enterolactone  (EXP)
fenthion  (ISO)
flavone  (EXP)
FR900359  (EXP)
genistein  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
methidathion  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraoxon  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
poly(vinylpyrrolidone)  (ISO)
raloxifene  (EXP)
resveratrol  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating lipid concentration  (IAGP)
Action myoclonus  (IAGP)
Agenesis of corpus callosum  (IAGP)
Arthralgia  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Childhood onset  (IAGP)
Chronic constipation  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Diabetes mellitus  (IAGP)
Drooling  (IAGP)
Extra-axial cerebrospinal fluid accumulation  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hirsutism  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Glomerulopathy  (IAGP)
Hearing impairment  (IAGP)
Hematuria  (IAGP)
Hepatic steatosis  (IAGP)
Hip subluxation  (IAGP)
Hirsutism  (IAGP)
Immunodeficiency  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Interhemispheric cyst  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Lipoatrophy  (IAGP)
Loss of subcutaneous adipose tissue from upper limbs  (IAGP)
Loss of truncal subcutaneous adipose tissue  (IAGP)
Lymphocytosis  (IAGP)
Membranoproliferative glomerulonephritis  (IAGP)
Metatarsus adductus  (IAGP)
Microglossia  (IAGP)
Micropenis  (IAGP)
Microscopic hematuria  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephrotic syndrome  (IAGP)
Polycystic ovaries  (IAGP)
Primary microcephaly  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive  (IAGP)
Progressive loss of facial adipose tissue  (IAGP)
Proteinuria  (IAGP)
Recurrent infections  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short finger  (IAGP)
Short thumb  (IAGP)
Simplified gyral pattern  (IAGP)
Sporadic  (IAGP)
Status epilepticus  (IAGP)
Tapered finger  (IAGP)
Trigonocephaly  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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:924328   PMID:1291239   PMID:1630457   PMID:1939065   PMID:2406262   PMID:2544227   PMID:3515346   PMID:8543011   PMID:9243284   PMID:9436978   PMID:9490046   PMID:10806082  
PMID:10835276   PMID:10960149   PMID:11207047   PMID:11691994   PMID:12477932   PMID:12902329   PMID:12912926   PMID:15024083   PMID:15057824   PMID:15284226   PMID:15489334   PMID:15611042  
PMID:15910003   PMID:16341674   PMID:16543417   PMID:16826530   PMID:17070523   PMID:17081983   PMID:17290216   PMID:19165527   PMID:19322201   PMID:19759913   PMID:19913121   PMID:20004208  
PMID:20309963   PMID:20628086   PMID:21400569   PMID:21654808   PMID:21873635   PMID:22412018   PMID:22586326   PMID:22768673   PMID:23272104   PMID:23383273   PMID:23398456   PMID:23475125  
PMID:23874603   PMID:24457600   PMID:24623722   PMID:24711643   PMID:24778252   PMID:24981860   PMID:25476789   PMID:25477337   PMID:25609649   PMID:25659154   PMID:25752541   PMID:25921289  
PMID:25954030   PMID:25969425   PMID:26186194   PMID:26344197   PMID:26460568   PMID:26468281   PMID:26496610   PMID:26524528   PMID:26618866   PMID:26760575   PMID:26921073   PMID:26949251  
PMID:27512140   PMID:27705803   PMID:28514442   PMID:28581483   PMID:28685749   PMID:28712289   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29395067  
PMID:29467282   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29615496   PMID:29676528   PMID:29791485   PMID:29844126   PMID:30021884   PMID:30425250   PMID:30804502  
PMID:30948266   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31280863   PMID:31300519   PMID:31409639   PMID:31540324   PMID:31586073   PMID:31620119   PMID:31871319  
PMID:31980649   PMID:32203420   PMID:32235678   PMID:32296183   PMID:32344865   PMID:32416067   PMID:32416090   PMID:32780723   PMID:32877691   PMID:32963011   PMID:33022573   PMID:33033404  
PMID:33111431   PMID:33211382   PMID:33239621   PMID:33536335   PMID:33729478   PMID:33782407   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34672954   PMID:34709727  
PMID:34732716   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35748872   PMID:35775376   PMID:35819319   PMID:35831314   PMID:35833506   PMID:35944360   PMID:36215168   PMID:36424410  
PMID:36517590   PMID:36526897   PMID:37044185   PMID:37120454   PMID:37616343   PMID:37774976   PMID:38113892  


Genomics

Comparative Map Data
LMNB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,428,166 - 2,456,959 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,427,638 - 2,456,959 (-)EnsemblGRCh38hg38GRCh38
GRCh37192,428,164 - 2,456,957 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,379,164 - 2,407,958 (-)NCBINCBI36Build 36hg18NCBI36
Build 34192,379,164 - 2,407,958NCBI
Celera192,365,655 - 2,394,449 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,200,214 - 2,228,845 (-)NCBIHuRef
CHM1_1192,427,662 - 2,456,465 (-)NCBICHM1_1
T2T-CHM13v2.0192,403,957 - 2,432,750 (-)NCBIT2T-CHM13v2.0
Lmnb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,737,197 - 80,754,079 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1080,737,037 - 80,754,079 (-)EnsemblGRCm39 Ensembl
GRCm381080,901,363 - 80,918,245 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,901,203 - 80,918,245 (-)EnsemblGRCm38mm10GRCm38
MGSCv371080,364,108 - 80,380,990 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361080,304,492 - 80,321,334 (-)NCBIMGSCv36mm8
Celera1081,920,184 - 81,937,066 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Lmnb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr879,443,308 - 9,459,468 (+)NCBIGRCr8
mRatBN7.278,792,628 - 8,808,665 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl78,789,314 - 8,808,665 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx711,676,600 - 11,692,579 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0713,552,108 - 13,568,087 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0711,418,629 - 11,434,610 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0711,657,870 - 11,676,936 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,660,934 - 11,675,472 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,828,299 - 11,844,456 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,303,626 - 10,326,068 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera76,976,982 - 6,993,012 (+)NCBICelera
Cytogenetic Map7q11NCBI
Lmnb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,828,638 - 4,851,928 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,826,653 - 4,851,984 (-)NCBIChiLan1.0ChiLan1.0
LMNB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2206,812,942 - 6,842,561 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1196,042,206 - 6,071,356 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0191,440,462 - 1,469,601 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1192,406,296 - 2,430,568 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl192,406,296 - 2,430,568 (-)Ensemblpanpan1.1panPan2
LMNB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12056,652,183 - 56,663,476 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2056,652,750 - 56,670,278 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2056,441,797 - 56,459,358 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02057,379,149 - 57,396,719 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2057,376,730 - 57,399,644 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12056,431,395 - 56,448,956 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02056,916,504 - 56,934,153 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02057,116,796 - 57,134,399 (+)NCBIUU_Cfam_GSD_1.0
Lmnb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,369,489 - 216,386,878 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365881,448,277 - 1,465,376 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365881,448,195 - 1,465,332 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LMNB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl276,125,927 - 76,146,558 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1276,125,932 - 76,146,564 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2276,677,404 - 76,698,027 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LMNB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.162,207,096 - 2,234,258 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl62,209,989 - 2,234,215 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660816,428,694 - 6,452,779 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lmnb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,633,191 - 5,648,240 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248285,630,328 - 5,648,231 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LMNB2
496 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000549569] Chr19:2434087 [GRCh38]
Chr19:2434085 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.55G>A (p.Ala19Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001516219]|not specified [RCV000517721] Chr19:2456879 [GRCh38]
Chr19:2456877 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000544288] Chr19:2444458 [GRCh38]
Chr19:2444456 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1554G>C (p.Thr518=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001079747]|not provided [RCV000712222] Chr19:2432452 [GRCh38]
Chr19:2432450 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.160A>C (p.Asn54His) single nucleotide variant Microcephaly 27, primary, autosomal dominant [RCV001292583] Chr19:2456774 [GRCh38]
Chr19:2456772 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.684+1G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001367560] Chr19:2438162 [GRCh38]
Chr19:2438160 [GRCh37]
Chr19:19p13.3
uncertain significance
LMNB2, IVS1AS, C-T, -6 single nucleotide variant Acquired partial lipodystrophy [RCV000015560] Chr19:19p13.3 risk factor
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) single nucleotide variant Acquired partial lipodystrophy [RCV000015561]|Progressive myoclonic epilepsy type 9 [RCV000551638]|Progressive myoclonic epilepsy type 9 [RCV000990135]|Progressive myoclonic epilepsy type 9 [RCV003224099]|not provided [RCV000057200]|not specified [RCV000117496] Chr19:2435152 [GRCh38]
Chr19:2435150 [GRCh37]
Chr19:19p13.3
risk factor|benign|likely benign|not provided
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) single nucleotide variant Acquired partial lipodystrophy [RCV000015562]|Progressive myoclonic epilepsy type 9 [RCV001851877]|not provided [RCV000057198] Chr19:2434029 [GRCh38]
Chr19:2434027 [GRCh37]
Chr19:19p13.3
risk factor|benign|uncertain significance|not provided
NM_032737.4(LMNB2):c.26G>A (p.Arg9His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002001461] Chr19:2456908 [GRCh38]
Chr19:2456906 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000543349] Chr19:2438493 [GRCh38]
Chr19:2438491 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.443G>A (p.Arg148His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000558159] Chr19:2438490 [GRCh38]
Chr19:2438488 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000541840] Chr19:2433905 [GRCh38]
Chr19:2433903 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.265-6C>T single nucleotide variant Acquired partial lipodystrophy [RCV000015560]|Progressive myoclonic epilepsy type 9 [RCV001079325]|not provided [RCV000057199] Chr19:2444546 [GRCh38]
Chr19:2444544 [GRCh37]
Chr19:19p13.3
risk factor|likely benign|not provided
NM_032737.4(LMNB2):c.142G>A (p.Glu48Lys) single nucleotide variant not provided [RCV000057201] Chr19:2456792 [GRCh38]
Chr19:2456790 [GRCh37]
Chr19:19p13.3
not provided
NM_032737.4(LMNB2):c.391G>T (p.Val131Phe) single nucleotide variant not provided [RCV000117494] Chr19:2444414 [GRCh38]
Chr19:2444412 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1416T>C (p.Gly472=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001522000]|not provided [RCV001657747]|not specified [RCV000117495] Chr19:2433892 [GRCh38]
Chr19:2433890 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys) single nucleotide variant LMNB2-related condition [RCV003393957]|Microcephaly 27, primary, autosomal dominant [RCV001292582] Chr19:2434305 [GRCh38]
Chr19:2434303 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.932G>A (p.Arg311His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001348566] Chr19:2434837 [GRCh38]
Chr19:2434835 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 copy number gain See cases [RCV000136880] Chr19:1351163..2555149 [GRCh38]
Chr19:1351162..2555147 [GRCh37]
Chr19:1302162..2506147 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
LMNB2, TYR232HIS single nucleotide variant Acquired partial lipodystrophy [RCV000190898] Chr19:19p13.3 pathogenic|likely pathogenic|risk factor
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000190899] Chr19:2438464 [GRCh38]
Chr19:2438462 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.1344C>T (p.Gly448=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000548271] Chr19:2433964 [GRCh38]
Chr19:2433962 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.856-8C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000550999] Chr19:2434921 [GRCh38]
Chr19:2434919 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1707C>T (p.Gly569=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000555760] Chr19:2431786 [GRCh38]
Chr19:2431784 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3 copy number gain See cases [RCV000239912] Chr19:1952590..2698712 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000806349] Chr19:2434415 [GRCh38]
Chr19:2434413 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1363G>C (p.Gly455Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000526944] Chr19:2433945 [GRCh38]
Chr19:2433943 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000527887] Chr19:2434052 [GRCh38]
Chr19:2434050 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1575C>T (p.Ala525=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000530323]|not provided [RCV003456415] Chr19:2432431 [GRCh38]
Chr19:2432429 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.558+5G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000537029] Chr19:2438370 [GRCh38]
Chr19:2438368 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1698C>T (p.Asn566=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000540897] Chr19:2431795 [GRCh38]
Chr19:2431793 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000687005]|not specified [RCV000504424] Chr19:2431794 [GRCh38]
Chr19:2431792 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001079279]|not provided [RCV000585167]|not specified [RCV000502022] Chr19:2438531 [GRCh38]
Chr19:2438529 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032737.4(LMNB2):c.804C>T (p.Asp268=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001081970]|not provided [RCV000557351]|not specified [RCV000500283] Chr19:2435052 [GRCh38]
Chr19:2435050 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000698587] Chr19:2435144 [GRCh38]
Chr19:2435142 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1332C>T (p.Pro444=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000542480] Chr19:2433976 [GRCh38]
Chr19:2433974 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1855G>A (p.Val619Met) single nucleotide variant Inborn genetic diseases [RCV003240166] Chr19:2430919 [GRCh38]
Chr19:2430917 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.902G>T (p.Ser301Ile) single nucleotide variant Inborn genetic diseases [RCV003282653] Chr19:2434867 [GRCh38]
Chr19:2434865 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1821+4G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000529382] Chr19:2431544 [GRCh38]
Chr19:2431542 [GRCh37]
Chr19:19p13.3
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_032737.4(LMNB2):c.815G>A (p.Arg272Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000536099] Chr19:2435041 [GRCh38]
Chr19:2435039 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.265-19C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001336788]|Progressive myoclonic epilepsy type 9 [RCV002060212]|not provided [RCV000513924] Chr19:2444559 [GRCh38]
Chr19:2444557 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652850] Chr19:2434064 [GRCh38]
Chr19:2434062 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652851]|not provided [RCV001532366] Chr19:2435156 [GRCh38]
Chr19:2435154 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652852] Chr19:2456777 [GRCh38]
Chr19:2456775 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652853] Chr19:2434406 [GRCh38]
Chr19:2434404 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652854] Chr19:2438456 [GRCh38]
Chr19:2438454 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652855] Chr19:2435165 [GRCh38]
Chr19:2435163 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652856] Chr19:2434299 [GRCh38]
Chr19:2434297 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652857] Chr19:2431811 [GRCh38]
Chr19:2431809 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.273C>T (p.Gly91=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652858] Chr19:2444532 [GRCh38]
Chr19:2444530 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser) single nucleotide variant Inborn genetic diseases [RCV002534182]|Progressive myoclonic epilepsy type 9 [RCV000652859] Chr19:2438419 [GRCh38]
Chr19:2438417 [GRCh37]
Chr19:19p13.3
benign|likely benign|uncertain significance
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) single nucleotide variant Inborn genetic diseases [RCV002534183]|Progressive myoclonic epilepsy type 9 [RCV000652860]|not provided [RCV000712223] Chr19:2438273 [GRCh38]
Chr19:2438271 [GRCh37]
Chr19:19p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652861] Chr19:2433996 [GRCh38]
Chr19:2433994 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.982-4G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652862]|not provided [RCV003424252] Chr19:2434519 [GRCh38]
Chr19:2434517 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1029C>T (p.Ala343=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652863] Chr19:2434468 [GRCh38]
Chr19:2434466 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1247G>T (p.Arg416Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652864] Chr19:2434061 [GRCh38]
Chr19:2434059 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.906G>A (p.Ala302=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652865] Chr19:2434863 [GRCh38]
Chr19:2434861 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.264+7G>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652866] Chr19:2456663 [GRCh38]
Chr19:2456661 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.855+8C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652867] Chr19:2434993 [GRCh38]
Chr19:2434991 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.255C>G (p.Thr85=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001081200]|not provided [RCV000652868] Chr19:2456679 [GRCh38]
Chr19:2456677 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_032737.4(LMNB2):c.1822-20TCCT[6] microsatellite Progressive myoclonic epilepsy type 9 [RCV000652869] Chr19:2430956..2430957 [GRCh38]
Chr19:2430954..2430955 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1776G>A (p.Glu592=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000652870] Chr19:2431593 [GRCh38]
Chr19:2431591 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.428C>T (p.Thr143Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000533296] Chr19:2438505 [GRCh38]
Chr19:2438503 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
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_032737.4(LMNB2):c.575C>T (p.Ala192Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000685668] Chr19:2438272 [GRCh38]
Chr19:2438270 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.512G>A (p.Arg171His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000701001] Chr19:2438421 [GRCh38]
Chr19:2438419 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000701334] Chr19:2434077 [GRCh38]
Chr19:2434075 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His) single nucleotide variant Inborn genetic diseases [RCV002533554]|Progressive myoclonic epilepsy type 9 [RCV000699341] Chr19:2434010 [GRCh38]
Chr19:2434008 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000699451] Chr19:2432436 [GRCh38]
Chr19:2432434 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu) single nucleotide variant Inborn genetic diseases [RCV002533581]|Progressive myoclonic epilepsy type 9 [RCV000700084] Chr19:2434052 [GRCh38]
Chr19:2434050 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000686142] Chr19:2438515 [GRCh38]
Chr19:2438513 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000701060] Chr19:2456923 [GRCh38]
Chr19:2456921 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.658G>C (p.Asp220His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000692704] Chr19:2438189 [GRCh38]
Chr19:2438187 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000707523] Chr19:2438476 [GRCh38]
Chr19:2438474 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1278C>T (p.Ser426=) single nucleotide variant not provided [RCV000712221] Chr19:2434030 [GRCh38]
Chr19:2434028 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) single nucleotide variant Inborn genetic diseases [RCV003163229]|Progressive myoclonic epilepsy type 9 [RCV000698660]|Progressive myoclonic epilepsy type 9 [RCV001836865] Chr19:2435114 [GRCh38]
Chr19:2435112 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.177C>A (p.His59Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000699058] Chr19:2456757 [GRCh38]
Chr19:2456755 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1351G>A (p.Val451Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000692903] Chr19:2433957 [GRCh38]
Chr19:2433955 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.685-8G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000704451] Chr19:2435179 [GRCh38]
Chr19:2435177 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1202+4C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000688749] Chr19:2434291 [GRCh38]
Chr19:2434289 [GRCh37]
Chr19:19p13.3
uncertain significance
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
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
NM_032737.4(LMNB2):c.265-27G>A single nucleotide variant not provided [RCV001540037] Chr19:2444567 [GRCh38]
Chr19:2444565 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1822-220C>T single nucleotide variant not provided [RCV001612215] Chr19:2431172 [GRCh38]
Chr19:2431170 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.912C>A (p.Arg304=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000919289]|not specified [RCV001664549] Chr19:2434857 [GRCh38]
Chr19:2434855 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.265-295G>A single nucleotide variant not provided [RCV001666447] Chr19:2444835 [GRCh38]
Chr19:2444833 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.982-38T>C single nucleotide variant not provided [RCV001645387] Chr19:2434553 [GRCh38]
Chr19:2434551 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1608G>A (p.Ala536=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001858559]|not provided [RCV003424453] Chr19:2431885 [GRCh38]
Chr19:2431883 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.10:g.(?_2456650)_(2456953_?)dup duplication Progressive myoclonic epilepsy type 9 [RCV001031506] Chr19:2456648..2456951 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2422072-2444608)x3 copy number gain not provided [RCV000752513] Chr19:2422072..2444608 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:2422087-2444608)x3 copy number gain not provided [RCV000752514] Chr19:2422087..2444608 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:2422087-2477316)x3 copy number gain not provided [RCV000752515] Chr19:2422087..2477316 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1257G>A (p.Ser419=) single nucleotide variant not provided [RCV000904159] Chr19:2434051 [GRCh38]
Chr19:2434049 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.982-5C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000905594] Chr19:2434520 [GRCh38]
Chr19:2434518 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.927G>A (p.Glu309=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001496738] Chr19:2434842 [GRCh38]
Chr19:2434840 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.342T>C (p.Arg114=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001414380]|not provided [RCV003456461] Chr19:2444463 [GRCh38]
Chr19:2444461 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1842A>G (p.Ser614=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000926336] Chr19:2430932 [GRCh38]
Chr19:2430930 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.288C>T (p.Tyr96=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000966689]|not provided [RCV003424502] Chr19:2444517 [GRCh38]
Chr19:2444515 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.969C>A (p.Gly323=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002066082] Chr19:2434800 [GRCh38]
Chr19:2434798 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.864C>T (p.Ser288=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000944762] Chr19:2434905 [GRCh38]
Chr19:2434903 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001068686] Chr19:2434020 [GRCh38]
Chr19:2434018 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1232G>A (p.Arg411His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001048946] Chr19:2434076 [GRCh38]
Chr19:2434074 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000808446] Chr19:2434467 [GRCh38]
Chr19:2434465 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1830G>A (p.Pro610=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001489749] Chr19:2430944 [GRCh38]
Chr19:2430942 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.561C>T (p.Ala187=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001869318] Chr19:2438286 [GRCh38]
Chr19:2438284 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1284C>T (p.Thr428=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001478244] Chr19:2434024 [GRCh38]
Chr19:2434022 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1137C>T (p.Asp379=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000886497]|not provided [RCV003413711] Chr19:2434360 [GRCh38]
Chr19:2434358 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.15C>T (p.Ser5=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001476979] Chr19:2456919 [GRCh38]
Chr19:2456917 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+7G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000903089] Chr19:2433819 [GRCh38]
Chr19:2433817 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.180C>T (p.Tyr60=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000979789] Chr19:2456754 [GRCh38]
Chr19:2456752 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.303C>T (p.Ala101=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002545929] Chr19:2444502 [GRCh38]
Chr19:2444500 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1542C>T (p.Ala514=) single nucleotide variant not provided [RCV000880552] Chr19:2432464 [GRCh38]
Chr19:2432462 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.492A>T (p.Ala164=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001472403] Chr19:2438441 [GRCh38]
Chr19:2438439 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000820740] Chr19:2438434 [GRCh38]
Chr19:2438432 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.59C>T (p.Thr20Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000798517] Chr19:2456875 [GRCh38]
Chr19:2456873 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000819674]|not provided [RCV003482318] Chr19:2431580 [GRCh38]
Chr19:2431578 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000808100]|Progressive myoclonic epilepsy type 9 [RCV001336789] Chr19:2444524 [GRCh38]
Chr19:2444522 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000802022] Chr19:2438440 [GRCh38]
Chr19:2438438 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys) single nucleotide variant Inborn genetic diseases [RCV003166213]|Progressive myoclonic epilepsy type 9 [RCV000802110] Chr19:2431619 [GRCh38]
Chr19:2431617 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000811948] Chr19:2433841 [GRCh38]
Chr19:2433839 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000812186] Chr19:2456833 [GRCh38]
Chr19:2456831 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000823606] Chr19:2434401 [GRCh38]
Chr19:2434399 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000817904]|not provided [RCV001289027] Chr19:2432453 [GRCh38]
Chr19:2432451 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000797907] Chr19:2431812 [GRCh38]
Chr19:2431810 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000794090] Chr19:2438530 [GRCh38]
Chr19:2438528 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000814489] Chr19:2433906 [GRCh38]
Chr19:2433904 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000821473] Chr19:2435054 [GRCh38]
Chr19:2435052 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000798293] Chr19:2434440 [GRCh38]
Chr19:2434438 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.886A>C (p.Asn296His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000805629] Chr19:2434883 [GRCh38]
Chr19:2434881 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000811527] Chr19:2444474 [GRCh38]
Chr19:2444472 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000795182]|not provided [RCV003456431] Chr19:2434859 [GRCh38]
Chr19:2434857 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000809866] Chr19:2434023 [GRCh38]
Chr19:2434021 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000802643] Chr19:2456918 [GRCh38]
Chr19:2456916 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.982-10C>T single nucleotide variant not provided [RCV000940007] Chr19:2434525 [GRCh38]
Chr19:2434523 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000794609]|not specified [RCV001816848] Chr19:2434448 [GRCh38]
Chr19:2434446 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000816849] Chr19:2433930 [GRCh38]
Chr19:2433928 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3 copy number gain See cases [RCV001194584] Chr19:2273150..2897133 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1 copy number loss not provided [RCV000848937] Chr19:2389731..2925532 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.757G>A (p.Asp253Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001066198] Chr19:2435099 [GRCh38]
Chr19:2435097 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1720A>G (p.Met574Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001044774] Chr19:2431649 [GRCh38]
Chr19:2431647 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.25C>T (p.Arg9Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001220430] Chr19:2456909 [GRCh38]
Chr19:2456907 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001239523]|not specified [RCV001819937] Chr19:2433902 [GRCh38]
Chr19:2433900 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1156A>G (p.Met386Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001243268] Chr19:2434341 [GRCh38]
Chr19:2434339 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.542G>A (p.Arg181Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001226373] Chr19:2438391 [GRCh38]
Chr19:2438389 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1742C>T (p.Ser581Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001246938]|not provided [RCV003414066] Chr19:2431627 [GRCh38]
Chr19:2431625 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.967G>A (p.Gly323Ser) single nucleotide variant Inborn genetic diseases [RCV003263884]|Progressive myoclonic epilepsy type 9 [RCV001242337] Chr19:2434802 [GRCh38]
Chr19:2434800 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.473G>A (p.Arg158Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001238656] Chr19:2438460 [GRCh38]
Chr19:2438458 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.1216C>A (p.Pro406Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001230239] Chr19:2434092 [GRCh38]
Chr19:2434090 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.402-272A>G single nucleotide variant not provided [RCV001645288] Chr19:2438803 [GRCh38]
Chr19:2438801 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1821+291C>T single nucleotide variant not provided [RCV001617927] Chr19:2431257 [GRCh38]
Chr19:2431255 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1591-173C>T single nucleotide variant not provided [RCV001694380] Chr19:2432075 [GRCh38]
Chr19:2432073 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.843C>T (p.Thr281=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000952187] Chr19:2435013 [GRCh38]
Chr19:2435011 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1368G>A (p.Thr456=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000951654] Chr19:2433940 [GRCh38]
Chr19:2433938 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1830G>T (p.Pro610=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000929792] Chr19:2430944 [GRCh38]
Chr19:2430942 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1686C>T (p.Thr562=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000916575] Chr19:2431807 [GRCh38]
Chr19:2431805 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.511C>T (p.Arg171Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000952410] Chr19:2438422 [GRCh38]
Chr19:2438420 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1230G>A (p.Ser410=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000888859] Chr19:2434078 [GRCh38]
Chr19:2434076 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1711-6G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001858587] Chr19:2431664 [GRCh38]
Chr19:2431662 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1822-20TCCT[5] microsatellite Progressive myoclonic epilepsy type 9 [RCV001467589] Chr19:2430956..2430957 [GRCh38]
Chr19:2430954..2430955 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1567C>T (p.Leu523=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001412606] Chr19:2432439 [GRCh38]
Chr19:2432437 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.330G>A (p.Thr110=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002066277] Chr19:2444475 [GRCh38]
Chr19:2444473 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.888C>T (p.Asn296=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001491875] Chr19:2434881 [GRCh38]
Chr19:2434879 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.903T>C (p.Ser301=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000940667] Chr19:2434866 [GRCh38]
Chr19:2434864 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000952022]|Progressive myoclonic epilepsy type 9 [RCV001336787] Chr19:2431573 [GRCh38]
Chr19:2431571 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.264+260G>T single nucleotide variant not provided [RCV001665213] Chr19:2456410 [GRCh38]
Chr19:2456408 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu) single nucleotide variant Inborn genetic diseases [RCV002554623]|Progressive myoclonic epilepsy type 9 [RCV001071326] Chr19:2434450 [GRCh38]
Chr19:2434448 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001227755]|not provided [RCV000992276] Chr19:2434434 [GRCh38]
Chr19:2434432 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.442C>T (p.Arg148Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001232161] Chr19:2438491 [GRCh38]
Chr19:2438489 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.147G>C (p.Glu49Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001245130] Chr19:2456787 [GRCh38]
Chr19:2456785 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001067718] Chr19:2435141 [GRCh38]
Chr19:2435139 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1407G>A (p.Ser469=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001511132] Chr19:2433901 [GRCh38]
Chr19:2433899 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1062C>T (p.Asp354=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000891133] Chr19:2434435 [GRCh38]
Chr19:2434433 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1197G>A (p.Glu399=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000957821] Chr19:2434300 [GRCh38]
Chr19:2434298 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.567C>T (p.Asp189=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001473277] Chr19:2438280 [GRCh38]
Chr19:2438278 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.684+10T>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000935936] Chr19:2438153 [GRCh38]
Chr19:2438151 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.777G>A (p.Ala259=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000913475] Chr19:2435079 [GRCh38]
Chr19:2435077 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1743G>C (p.Ser581=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV000911394]|not specified [RCV001818830] Chr19:2431626 [GRCh38]
Chr19:2431624 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.657G>A (p.Leu219=) single nucleotide variant not provided [RCV000890640] Chr19:2438190 [GRCh38]
Chr19:2438188 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.*272G>C single nucleotide variant not provided [RCV001651455] Chr19:2430639 [GRCh38]
Chr19:2430637 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1821+274A>C single nucleotide variant not provided [RCV001654600] Chr19:2431274 [GRCh38]
Chr19:2431272 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.685-287A>G single nucleotide variant not provided [RCV001597408] Chr19:2435458 [GRCh38]
Chr19:2435456 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.265-70C>T single nucleotide variant not provided [RCV001655440] Chr19:2444610 [GRCh38]
Chr19:2444608 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.402-262G>C single nucleotide variant not provided [RCV001687069] Chr19:2438793 [GRCh38]
Chr19:2438791 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.856-30G>A single nucleotide variant not provided [RCV001677315] Chr19:2434943 [GRCh38]
Chr19:2434941 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.341G>A (p.Arg114His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001071267] Chr19:2444464 [GRCh38]
Chr19:2444462 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001036213] Chr19:2434029 [GRCh38]
Chr19:2434027 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001068622] Chr19:2434041 [GRCh38]
Chr19:2434039 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1483-34T>C single nucleotide variant not provided [RCV001693113] Chr19:2432557 [GRCh38]
Chr19:2432555 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.685-165C>T single nucleotide variant not provided [RCV001710727] Chr19:2435336 [GRCh38]
Chr19:2435334 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.402-136G>A single nucleotide variant not provided [RCV001648288] Chr19:2438667 [GRCh38]
Chr19:2438665 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1483-260G>A single nucleotide variant not provided [RCV001682276] Chr19:2432783 [GRCh38]
Chr19:2432781 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.684+42G>A single nucleotide variant not provided [RCV001694737] Chr19:2438121 [GRCh38]
Chr19:2438119 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.684+163G>A single nucleotide variant not provided [RCV001709152] Chr19:2438000 [GRCh38]
Chr19:2437998 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1749G>T (p.Met583Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001067956] Chr19:2431620 [GRCh38]
Chr19:2431618 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.344C>G (p.Ala115Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001214814] Chr19:2444461 [GRCh38]
Chr19:2444459 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.35A>C (p.Gln12Pro) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001237212] Chr19:2456899 [GRCh38]
Chr19:2456897 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.624G>A (p.Leu208=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001042688] Chr19:2438223 [GRCh38]
Chr19:2438221 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1361C>T (p.Thr454Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001202831] Chr19:2433947 [GRCh38]
Chr19:2433945 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1342G>T (p.Gly448Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001208738] Chr19:2433966 [GRCh38]
Chr19:2433964 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.311G>T (p.Arg104Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001216726] Chr19:2444494 [GRCh38]
Chr19:2444492 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1682G>A (p.Arg561His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001048023] Chr19:2431811 [GRCh38]
Chr19:2431809 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1012C>A (p.Leu338Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001059521] Chr19:2434485 [GRCh38]
Chr19:2434483 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1751G>A (p.Arg584His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001246374] Chr19:2431618 [GRCh38]
Chr19:2431616 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.863G>A (p.Ser288Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001216989] Chr19:2434906 [GRCh38]
Chr19:2434904 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.955T>C (p.Tyr319His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001228977] Chr19:2434814 [GRCh38]
Chr19:2434812 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_032737.4(LMNB2):c.388G>A (p.Glu130Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001064532] Chr19:2444417 [GRCh38]
Chr19:2444415 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.632G>T (p.Arg211Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001216468] Chr19:2438215 [GRCh38]
Chr19:2438213 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.757_759del (p.Asp253del) deletion Progressive myoclonic epilepsy type 9 [RCV001038698] Chr19:2435097..2435099 [GRCh38]
Chr19:2435095..2435097 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001063434] Chr19:2456885 [GRCh38]
Chr19:2456883 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1428C>G (p.Ile476Met) single nucleotide variant Acquired partial lipodystrophy [RCV001253316] Chr19:2433880 [GRCh38]
Chr19:2433878 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.481G>C (p.Val161Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001298942] Chr19:2438452 [GRCh38]
Chr19:2438450 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001863149]|not provided [RCV001289026] Chr19:2434074 [GRCh38]
Chr19:2434072 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1408G>A (p.Ala470Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001317815] Chr19:2433900 [GRCh38]
Chr19:2433898 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1708G>A (p.Glu570Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001348161] Chr19:2431785 [GRCh38]
Chr19:2431783 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1247G>A (p.Arg416Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001338340] Chr19:2434061 [GRCh38]
Chr19:2434059 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.559-2A>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001326275] Chr19:2438290 [GRCh38]
Chr19:2438288 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.665G>A (p.Arg222Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001315642] Chr19:2438182 [GRCh38]
Chr19:2438180 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1016A>C (p.Glu339Ala) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001361444] Chr19:2434481 [GRCh38]
Chr19:2434479 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.991G>A (p.Ala331Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001369658] Chr19:2434506 [GRCh38]
Chr19:2434504 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.472C>T (p.Arg158Trp) single nucleotide variant Generalized myoclonic seizure [RCV001270025]|Progressive myoclonic epilepsy type 9 [RCV001365776] Chr19:2438461 [GRCh38]
Chr19:2438459 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1528G>T (p.Gly510Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001369841] Chr19:2432478 [GRCh38]
Chr19:2432476 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1250C>A (p.Ala417Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001370796] Chr19:2434058 [GRCh38]
Chr19:2434056 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.855+9G>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001392091] Chr19:2434992 [GRCh38]
Chr19:2434990 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.402-18_402-3del deletion Progressive myoclonic epilepsy type 9 [RCV001348508] Chr19:2438534..2438549 [GRCh38]
Chr19:2438532..2438547 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1465A>C (p.Lys489Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001358973] Chr19:2433843 [GRCh38]
Chr19:2433841 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1597G>A (p.Ala533Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001370182] Chr19:2431896 [GRCh38]
Chr19:2431894 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.529G>A (p.Val177Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001362874] Chr19:2438404 [GRCh38]
Chr19:2438402 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.351G>A (p.Leu117=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001397328] Chr19:2444454 [GRCh38]
Chr19:2444452 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.617T>C (p.Val206Ala) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001322884] Chr19:2438230 [GRCh38]
Chr19:2438228 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.84C>T (p.Arg28=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001320110] Chr19:2456850 [GRCh38]
Chr19:2456848 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.592C>A (p.Leu198Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001323079] Chr19:2438255 [GRCh38]
Chr19:2438253 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del) microsatellite Progressive myoclonic epilepsy type 9 [RCV001365269] Chr19:2431585..2431587 [GRCh38]
Chr19:2431583..2431585 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.85G>C (p.Ala29Pro) single nucleotide variant Inborn genetic diseases [RCV002546998]|Progressive myoclonic epilepsy type 9 [RCV001343999]|not provided [RCV002511082] Chr19:2456849 [GRCh38]
Chr19:2456847 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1687G>A (p.Val563Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001324824] Chr19:2431806 [GRCh38]
Chr19:2431804 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.512G>T (p.Arg171Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001347304] Chr19:2438421 [GRCh38]
Chr19:2438419 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1618del (p.His540fs) deletion Progressive myoclonic epilepsy type 9 [RCV001344189] Chr19:2431875 [GRCh38]
Chr19:2431873 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1007G>A (p.Arg336Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001294769] Chr19:2434490 [GRCh38]
Chr19:2434488 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1090C>T (p.Arg364Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001340041] Chr19:2434407 [GRCh38]
Chr19:2434405 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.541C>T (p.Arg181Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001338320] Chr19:2438392 [GRCh38]
Chr19:2438390 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1701G>A (p.Ala567=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001304635] Chr19:2431792 [GRCh38]
Chr19:2431790 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.329C>T (p.Thr110Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001344524] Chr19:2444476 [GRCh38]
Chr19:2444474 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1412C>T (p.Ser471Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001344548] Chr19:2433896 [GRCh38]
Chr19:2433894 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.605C>T (p.Thr202Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001364381] Chr19:2438242 [GRCh38]
Chr19:2438240 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.613C>T (p.Arg205Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001314524] Chr19:2438234 [GRCh38]
Chr19:2438232 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.572A>G (p.His191Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001336790]|Progressive myoclonic epilepsy type 9 [RCV001865855] Chr19:2438275 [GRCh38]
Chr19:2438273 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.891C>G (p.Asp297Glu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001336791] Chr19:2434878 [GRCh38]
Chr19:2434876 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.421G>A (p.Glu141Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001309680] Chr19:2438512 [GRCh38]
Chr19:2438510 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1623C>T (p.Ser541=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001422061] Chr19:2431870 [GRCh38]
Chr19:2431868 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.896C>T (p.Ala299Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001367401] Chr19:2434873 [GRCh38]
Chr19:2434871 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.642C>T (p.Ser214=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001421328] Chr19:2438205 [GRCh38]
Chr19:2438203 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.(?_2456648)_(2456951_?)dup duplication Epilepsy, progressive myoclonic, 9 [RCV001315130] Chr19:2456648..2456951 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.311G>A (p.Arg104Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001351619] Chr19:2444494 [GRCh38]
Chr19:2444492 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1041C>T (p.Asp347=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001396074] Chr19:2434456 [GRCh38]
Chr19:2434454 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.335G>A (p.Arg112Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001308510] Chr19:2444470 [GRCh38]
Chr19:2444468 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.614G>A (p.Arg205His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001339840] Chr19:2438233 [GRCh38]
Chr19:2438231 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1248A>G (p.Arg416=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001490163] Chr19:2434060 [GRCh38]
Chr19:2434058 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.559-5C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001487800] Chr19:2438293 [GRCh38]
Chr19:2438291 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1740C>T (p.Ser580=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001503846] Chr19:2431629 [GRCh38]
Chr19:2431627 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1590+237G>A single nucleotide variant not provided [RCV001527930] Chr19:2432179 [GRCh38]
Chr19:2432177 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.387C>T (p.Asp129=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001403349] Chr19:2444418 [GRCh38]
Chr19:2444416 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1711-8C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001485794] Chr19:2431666 [GRCh38]
Chr19:2431664 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.198G>A (p.Ala66=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001487680] Chr19:2456736 [GRCh38]
Chr19:2456734 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1202+10G>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001492083] Chr19:2434285 [GRCh38]
Chr19:2434283 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.204G>A (p.Glu68=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001467745] Chr19:2456730 [GRCh38]
Chr19:2456728 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.252G>C (p.Val84=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001427937] Chr19:2456682 [GRCh38]
Chr19:2456680 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1821+7C>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001439001] Chr19:2431541 [GRCh38]
Chr19:2431539 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.982-8C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001447447] Chr19:2434523 [GRCh38]
Chr19:2434521 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.999T>G (p.Asp333Glu) single nucleotide variant Inborn genetic diseases [RCV003160769]|Progressive myoclonic epilepsy type 9 [RCV001440342] Chr19:2434498 [GRCh38]
Chr19:2434496 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1483-4C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001398136] Chr19:2432527 [GRCh38]
Chr19:2432525 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.966C>T (p.Ser322=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001409077] Chr19:2434803 [GRCh38]
Chr19:2434801 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1431G>A (p.Glu477=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001411596] Chr19:2433877 [GRCh38]
Chr19:2433875 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.528C>T (p.Asp176=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001431903] Chr19:2438405 [GRCh38]
Chr19:2438403 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1632G>A (p.Ser544=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001406528] Chr19:2431861 [GRCh38]
Chr19:2431859 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.402-149G>T single nucleotide variant not provided [RCV001536251] Chr19:2438680 [GRCh38]
Chr19:2438678 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1483-182A>G single nucleotide variant not provided [RCV001709361] Chr19:2432705 [GRCh38]
Chr19:2432703 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1239C>T (p.Thr413=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001495809] Chr19:2434069 [GRCh38]
Chr19:2434067 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.111G>A (p.Ser37=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001474165] Chr19:2456823 [GRCh38]
Chr19:2456821 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1711-7C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001516591] Chr19:2431665 [GRCh38]
Chr19:2431663 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1202+48A>G single nucleotide variant not provided [RCV001698562] Chr19:2434247 [GRCh38]
Chr19:2434245 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.265-224C>T single nucleotide variant not provided [RCV001686692] Chr19:2444764 [GRCh38]
Chr19:2444762 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1590+71A>G single nucleotide variant not provided [RCV001652077] Chr19:2432345 [GRCh38]
Chr19:2432343 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.51C>T (p.Ala17=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001497558] Chr19:2456883 [GRCh38]
Chr19:2456881 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.982-4G>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001505366] Chr19:2434519 [GRCh38]
Chr19:2434517 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.513C>T (p.Arg171=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001453823] Chr19:2438420 [GRCh38]
Chr19:2438418 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1539C>T (p.Ile513=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001453856] Chr19:2432467 [GRCh38]
Chr19:2432465 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.401+39T>C single nucleotide variant not provided [RCV001616492] Chr19:2444365 [GRCh38]
Chr19:2444363 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.153C>A (p.Arg51=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001419377] Chr19:2456781 [GRCh38]
Chr19:2456779 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1233C>A (p.Arg411=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001495136] Chr19:2434075 [GRCh38]
Chr19:2434073 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1854C>T (p.Tyr618=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001467104] Chr19:2430920 [GRCh38]
Chr19:2430918 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1788C>T (p.Ala596=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001473828] Chr19:2431581 [GRCh38]
Chr19:2431579 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.738C>T (p.Ser246=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001501967] Chr19:2435118 [GRCh38]
Chr19:2435116 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.699G>A (p.Thr233=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001429211] Chr19:2435157 [GRCh38]
Chr19:2435155 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.291G>A (p.Glu97=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001403705] Chr19:2444514 [GRCh38]
Chr19:2444512 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1251C>T (p.Ala417=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001440199] Chr19:2434057 [GRCh38]
Chr19:2434055 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1629C>T (p.Pro543=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001406459]|not provided [RCV003426080] Chr19:2431864 [GRCh38]
Chr19:2431862 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.729G>A (p.Glu243=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001480292] Chr19:2435127 [GRCh38]
Chr19:2435125 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.18G>C (p.Pro6=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001464610] Chr19:2456916 [GRCh38]
Chr19:2456914 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.69G>A (p.Thr23=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001406670] Chr19:2456865 [GRCh38]
Chr19:2456863 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.685-4G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001440645] Chr19:2435175 [GRCh38]
Chr19:2435173 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.711C>T (p.His237=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001398148] Chr19:2435145 [GRCh38]
Chr19:2435143 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.228C>G (p.Leu76=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001456197] Chr19:2456706 [GRCh38]
Chr19:2456704 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.615T>C (p.Arg205=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001495293] Chr19:2438232 [GRCh38]
Chr19:2438230 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1275G>C (p.Leu425Phe) single nucleotide variant not specified [RCV002247949] Chr19:2434033 [GRCh38]
Chr19:2434031 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1777G>C (p.Glu593Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001969829]|not provided [RCV003418234] Chr19:2431592 [GRCh38]
Chr19:2431590 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001895700] Chr19:2433958 [GRCh38]
Chr19:2433956 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del) deletion Progressive myoclonic epilepsy type 9 [RCV001950023] Chr19:2435137..2435151 [GRCh38]
Chr19:2435135..2435149 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1434G>T (p.Glu478Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002008308] Chr19:2433874 [GRCh38]
Chr19:2433872 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.402C>A (p.Ser134Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001946310] Chr19:2438531 [GRCh38]
Chr19:2438529 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.965C>T (p.Ser322Phe) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001912650] Chr19:2434804 [GRCh38]
Chr19:2434802 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.889G>A (p.Asp297Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002008945] Chr19:2434880 [GRCh38]
Chr19:2434878 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002025680] Chr19:2434847 [GRCh38]
Chr19:2434845 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1711-3C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001892852] Chr19:2431661 [GRCh38]
Chr19:2431659 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.1035G>T (p.Glu345Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001911489] Chr19:2434462 [GRCh38]
Chr19:2434460 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001892461] Chr19:2434011 [GRCh38]
Chr19:2434009 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.454C>A (p.Leu152Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002042333] Chr19:2438479 [GRCh38]
Chr19:2438477 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1289G>A (p.Arg430His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001910370] Chr19:2434019 [GRCh38]
Chr19:2434017 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001911158] Chr19:2435164 [GRCh38]
Chr19:2435162 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1515G>T (p.Arg505Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001911762] Chr19:2432491 [GRCh38]
Chr19:2432489 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1204C>T (p.Leu402=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001967331] Chr19:2434104 [GRCh38]
Chr19:2434102 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.5G>A (p.Ser2Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001945927] Chr19:2456929 [GRCh38]
Chr19:2456927 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.23G>A (p.Arg8His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001926424] Chr19:2456911 [GRCh38]
Chr19:2456909 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1631C>T (p.Ser544Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002024055] Chr19:2431862 [GRCh38]
Chr19:2431860 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.684+3G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002021584] Chr19:2438160 [GRCh38]
Chr19:2438158 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1313G>A (p.Arg438Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001871215] Chr19:2433995 [GRCh38]
Chr19:2433993 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1822G>A (p.Gly608Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001911231] Chr19:2430952 [GRCh38]
Chr19:2430950 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.395A>G (p.Asn132Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001969668] Chr19:2444410 [GRCh38]
Chr19:2444408 [GRCh37]
Chr19:19p13.3
benign|uncertain significance
NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001928677] Chr19:2456926 [GRCh38]
Chr19:2456924 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1203-14T>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001894867] Chr19:2434119 [GRCh38]
Chr19:2434117 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001895525] Chr19:2444495 [GRCh38]
Chr19:2444493 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.596A>G (p.Glu199Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001908504] Chr19:2438251 [GRCh38]
Chr19:2438249 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1240G>A (p.Val414Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002004365] Chr19:2434068 [GRCh38]
Chr19:2434066 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1253C>T (p.Thr418Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001924270] Chr19:2434055 [GRCh38]
Chr19:2434053 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001903524] Chr19:2434371 [GRCh38]
Chr19:2434369 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1528G>C (p.Gly510Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001944577] Chr19:2432478 [GRCh38]
Chr19:2432476 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.911G>A (p.Arg304His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001936824] Chr19:2434858 [GRCh38]
Chr19:2434856 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.843C>G (p.Thr281=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001995503] Chr19:2435013 [GRCh38]
Chr19:2435011 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1041C>A (p.Asp347Glu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002028477] Chr19:2434456 [GRCh38]
Chr19:2434454 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001942450] Chr19:2456905 [GRCh38]
Chr19:2456903 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001943350] Chr19:2433833 [GRCh38]
Chr19:2433831 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1220G>C (p.Ser407Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001939904] Chr19:2434088 [GRCh38]
Chr19:2434086 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.805G>A (p.Glu269Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001899787]|not provided [RCV003222355] Chr19:2435051 [GRCh38]
Chr19:2435049 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1571G>A (p.Arg524His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001961548] Chr19:2432435 [GRCh38]
Chr19:2432433 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.517C>A (p.Leu173Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001904613] Chr19:2438416 [GRCh38]
Chr19:2438414 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1006C>T (p.Arg336Trp) single nucleotide variant Inborn genetic diseases [RCV003264225]|Progressive myoclonic epilepsy type 9 [RCV001898717] Chr19:2434491 [GRCh38]
Chr19:2434489 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001943535] Chr19:2431793 [GRCh38]
Chr19:2431791 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.745C>A (p.Gln249Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001902989] Chr19:2435111 [GRCh38]
Chr19:2435109 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1202+5G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001916402] Chr19:2434290 [GRCh38]
Chr19:2434288 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001867252] Chr19:2431787 [GRCh38]
Chr19:2431785 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.713A>T (p.Glu238Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001977968] Chr19:2435143 [GRCh38]
Chr19:2435141 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001898006] Chr19:2431859 [GRCh38]
Chr19:2431857 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.698C>T (p.Thr233Met) single nucleotide variant Inborn genetic diseases [RCV003365524]|Progressive myoclonic epilepsy type 9 [RCV001903182] Chr19:2435158 [GRCh38]
Chr19:2435156 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001881147] Chr19:2444521 [GRCh38]
Chr19:2444519 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1026G>A (p.Met342Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001991447] Chr19:2434471 [GRCh38]
Chr19:2434469 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002010971] Chr19:2431869 [GRCh38]
Chr19:2431867 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.842C>T (p.Thr281Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001952394] Chr19:2435014 [GRCh38]
Chr19:2435012 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1420G>A (p.Val474Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002026276] Chr19:2433888 [GRCh38]
Chr19:2433886 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.733G>A (p.Asp245Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002011160] Chr19:2435123 [GRCh38]
Chr19:2435121 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1797C>T (p.Gly599=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001882134] Chr19:2431572 [GRCh38]
Chr19:2431570 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.6C>T (p.Ser2=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001975232] Chr19:2456928 [GRCh38]
Chr19:2456926 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1167C>T (p.Asn389=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001961550] Chr19:2434330 [GRCh38]
Chr19:2434328 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001951957] Chr19:2456905 [GRCh38]
Chr19:2456903 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1339A>G (p.Ser447Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001907143] Chr19:2433969 [GRCh38]
Chr19:2433967 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.743G>A (p.Arg248Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002026107] Chr19:2435113 [GRCh38]
Chr19:2435111 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.71C>A (p.Pro24Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001975886] Chr19:2456863 [GRCh38]
Chr19:2456861 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001980250] Chr19:2435084 [GRCh38]
Chr19:2435082 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.302C>T (p.Ala101Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001917208] Chr19:2444503 [GRCh38]
Chr19:2444501 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.340C>T (p.Arg114Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002014910] Chr19:2444465 [GRCh38]
Chr19:2444463 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.855+15C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002009878] Chr19:2434986 [GRCh38]
Chr19:2434984 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001918731] Chr19:2456891 [GRCh38]
Chr19:2456889 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.557A>T (p.Lys186Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001883991] Chr19:2438376 [GRCh38]
Chr19:2438374 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.940C>A (p.Leu314Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002034035] Chr19:2434829 [GRCh38]
Chr19:2434827 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001935747] Chr19:2456920 [GRCh38]
Chr19:2456918 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001925432] Chr19:2433827 [GRCh38]
Chr19:2433825 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1413G>A (p.Ser471=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002050447] Chr19:2433895 [GRCh38]
Chr19:2433893 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV001974851] Chr19:2456897 [GRCh38]
Chr19:2456895 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.694G>A (p.Glu232Lys) single nucleotide variant Inborn genetic diseases [RCV002548981]|Progressive myoclonic epilepsy type 9 [RCV002031140] Chr19:2435162 [GRCh38]
Chr19:2435160 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.750G>C (p.Gln250His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002146417] Chr19:2435106 [GRCh38]
Chr19:2435104 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.401+12C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002085583] Chr19:2444392 [GRCh38]
Chr19:2444390 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.726G>A (p.Val242=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002071401] Chr19:2435130 [GRCh38]
Chr19:2435128 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+12G>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002210285] Chr19:2433814 [GRCh38]
Chr19:2433812 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.249G>A (p.Glu83=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002105467] Chr19:2456685 [GRCh38]
Chr19:2456683 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.264+15T>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002105197] Chr19:2456655 [GRCh38]
Chr19:2456653 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.982-9C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002186361] Chr19:2434524 [GRCh38]
Chr19:2434522 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1590+14C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002189017] Chr19:2432402 [GRCh38]
Chr19:2432400 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.282G>A (p.Ala94=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002104343] Chr19:2444523 [GRCh38]
Chr19:2444521 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1535A>G (p.Glu512Gly) single nucleotide variant Inborn genetic diseases [RCV003070638]|Progressive myoclonic epilepsy type 9 [RCV002146150] Chr19:2432471 [GRCh38]
Chr19:2432469 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.856-14C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002148725] Chr19:2434927 [GRCh38]
Chr19:2434925 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1527G>A (p.Glu509=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002190033] Chr19:2432479 [GRCh38]
Chr19:2432477 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.666G>A (p.Arg222=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002107607] Chr19:2438181 [GRCh38]
Chr19:2438179 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.558+19G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002125824] Chr19:2438356 [GRCh38]
Chr19:2438354 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1203-17C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002086307] Chr19:2434122 [GRCh38]
Chr19:2434120 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.150G>C (p.Leu50=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002167220] Chr19:2456784 [GRCh38]
Chr19:2456782 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.685-5C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002106307] Chr19:2435176 [GRCh38]
Chr19:2435174 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.819C>T (p.Leu273=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002089684] Chr19:2435037 [GRCh38]
Chr19:2435035 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+11A>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002210430] Chr19:2433815 [GRCh38]
Chr19:2433813 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.264+9del deletion Progressive myoclonic epilepsy type 9 [RCV002174748] Chr19:2456661 [GRCh38]
Chr19:2456659 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.696G>A (p.Glu232=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002174766] Chr19:2435160 [GRCh38]
Chr19:2435158 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+17G>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002173716] Chr19:2433809 [GRCh38]
Chr19:2433807 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1822-17T>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002116023] Chr19:2430969 [GRCh38]
Chr19:2430967 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.981+20C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002078142] Chr19:2434768 [GRCh38]
Chr19:2434766 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.558+18C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002211957] Chr19:2438357 [GRCh38]
Chr19:2438355 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.504C>T (p.Ser168=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002115308] Chr19:2438429 [GRCh38]
Chr19:2438427 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1350C>T (p.Ser450=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002188630] Chr19:2433958 [GRCh38]
Chr19:2433956 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His) single nucleotide variant Inborn genetic diseases [RCV003161670]|Progressive myoclonic epilepsy type 9 [RCV002193778] Chr19:2430922 [GRCh38]
Chr19:2430920 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_032737.4(LMNB2):c.1749G>A (p.Met583Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002087219] Chr19:2431620 [GRCh38]
Chr19:2431618 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1482+16G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002216054] Chr19:2433810 [GRCh38]
Chr19:2433808 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1737G>C (p.Lys579Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002195437] Chr19:2431632 [GRCh38]
Chr19:2431630 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.309C>T (p.Ala103=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002197576] Chr19:2444496 [GRCh38]
Chr19:2444494 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.555C>T (p.Ala185=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002170101] Chr19:2438378 [GRCh38]
Chr19:2438376 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.856-10C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002114261] Chr19:2434923 [GRCh38]
Chr19:2434921 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1483-20G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002197612] Chr19:2432543 [GRCh38]
Chr19:2432541 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1202+4C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002188314] Chr19:2434291 [GRCh38]
Chr19:2434289 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1629C>G (p.Pro543=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002111095] Chr19:2431864 [GRCh38]
Chr19:2431862 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.381G>A (p.Glu127=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002095432] Chr19:2444424 [GRCh38]
Chr19:2444422 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.597G>A (p.Glu199=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002130840] Chr19:2438250 [GRCh38]
Chr19:2438248 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1793T>C (p.Phe598Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002107142] Chr19:2431576 [GRCh38]
Chr19:2431574 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.580G>C (p.Ala194Pro) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002114179] Chr19:2438267 [GRCh38]
Chr19:2438265 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+15C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002116039] Chr19:2433811 [GRCh38]
Chr19:2433809 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.981+15G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002215671] Chr19:2434773 [GRCh38]
Chr19:2434771 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.348G>A (p.Arg116=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002171973] Chr19:2444457 [GRCh38]
Chr19:2444455 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1483-11G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002116058] Chr19:2432534 [GRCh38]
Chr19:2432532 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1483-7C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002080534] Chr19:2432530 [GRCh38]
Chr19:2432528 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.684+15T>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002174630] Chr19:2438148 [GRCh38]
Chr19:2438146 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.559-7C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002195844] Chr19:2438295 [GRCh38]
Chr19:2438293 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1710+14G>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002217995] Chr19:2431769 [GRCh38]
Chr19:2431767 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.855+14G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002203437] Chr19:2434987 [GRCh38]
Chr19:2434985 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1483-12C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002100129] Chr19:2432535 [GRCh38]
Chr19:2432533 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.558+20_558+24del deletion Progressive myoclonic epilepsy type 9 [RCV002184539] Chr19:2438351..2438355 [GRCh38]
Chr19:2438349..2438353 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.855+16G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002163451] Chr19:2434985 [GRCh38]
Chr19:2434983 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1821+13T>C single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002163884] Chr19:2431535 [GRCh38]
Chr19:2431533 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.807G>C (p.Glu269Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002162718] Chr19:2435049 [GRCh38]
Chr19:2435047 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.856-17C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002121251] Chr19:2434930 [GRCh38]
Chr19:2434928 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1710+7G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002097985] Chr19:2431776 [GRCh38]
Chr19:2431774 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1482+20C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002122917] Chr19:2433806 [GRCh38]
Chr19:2433804 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.982-12C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002140622] Chr19:2434527 [GRCh38]
Chr19:2434525 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.10C>T (p.Pro4Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002218767] Chr19:2456924 [GRCh38]
Chr19:2456922 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1203-16C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002140769] Chr19:2434121 [GRCh38]
Chr19:2434119 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1612G>C (p.Val538Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002198052] Chr19:2431881 [GRCh38]
Chr19:2431879 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1083G>A (p.Thr361=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002103625] Chr19:2434414 [GRCh38]
Chr19:2434412 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1341C>T (p.Ser447=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002102253] Chr19:2433967 [GRCh38]
Chr19:2433965 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1607C>T (p.Ala536Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002118257] Chr19:2431886 [GRCh38]
Chr19:2431884 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.22C>T (p.Arg8Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002119597] Chr19:2456912 [GRCh38]
Chr19:2456910 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1203-17_1203-14del microsatellite Progressive myoclonic epilepsy type 9 [RCV002198416] Chr19:2434119..2434122 [GRCh38]
Chr19:2434117..2434120 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.559-20C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002219791] Chr19:2438308 [GRCh38]
Chr19:2438306 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.429G>C (p.Thr143=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002217893] Chr19:2438504 [GRCh38]
Chr19:2438502 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.618G>A (p.Val206=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002161065] Chr19:2438229 [GRCh38]
Chr19:2438227 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.429G>A (p.Thr143=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002219978] Chr19:2438504 [GRCh38]
Chr19:2438502 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.222C>T (p.Leu74=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002177132] Chr19:2456712 [GRCh38]
Chr19:2456710 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.942G>A (p.Leu314=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002182730] Chr19:2434827 [GRCh38]
Chr19:2434825 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.801C>T (p.His267=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003110742] Chr19:2435055 [GRCh38]
Chr19:2435053 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003110781] Chr19:2456920 [GRCh38]
Chr19:2456918 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_1456055)_(2456931_?)dup duplication Progressive myoclonic epilepsy type 9 [RCV003122897] Chr19:1456055..2456931 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:2376834-2515283)x1 copy number loss not provided [RCV002474740] Chr19:2376834..2515283 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1496G>T (p.Gly499Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002302247] Chr19:2432510 [GRCh38]
Chr19:2432508 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1711-6G>C single nucleotide variant not provided [RCV002475086] Chr19:2431664 [GRCh38]
Chr19:2431662 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup duplication not provided [RCV003154903] Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1168G>A (p.Ala390Thr) single nucleotide variant not provided [RCV003131496] Chr19:2434329 [GRCh38]
Chr19:2434327 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1016A>T (p.Glu339Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002304888] Chr19:2434481 [GRCh38]
Chr19:2434479 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.687G>T (p.Glu229Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002300520] Chr19:2435169 [GRCh38]
Chr19:2435167 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002815612] Chr19:2430927 [GRCh38]
Chr19:2430925 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.532G>A (p.Ala178Thr) single nucleotide variant Inborn genetic diseases [RCV002945215] Chr19:2438401 [GRCh38]
Chr19:2438399 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1336G>A (p.Gly446Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002726598] Chr19:2433972 [GRCh38]
Chr19:2433970 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.100A>C (p.Thr34Pro) single nucleotide variant Inborn genetic diseases [RCV002728281] Chr19:2456834 [GRCh38]
Chr19:2456832 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1377C>T (p.Ser459=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002948162] Chr19:2433931 [GRCh38]
Chr19:2433929 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1055T>A (p.Met352Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002618169] Chr19:2434442 [GRCh38]
Chr19:2434440 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1545C>T (p.Tyr515=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003077032] Chr19:2432461 [GRCh38]
Chr19:2432459 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003074625] Chr19:2433864 [GRCh38]
Chr19:2433862 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003033558] Chr19:2431816 [GRCh38]
Chr19:2431814 [GRCh37]
Chr19:19p13.3
benign
NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003033863] Chr19:2432421 [GRCh38]
Chr19:2432419 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003076457] Chr19:2433971 [GRCh38]
Chr19:2433969 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1821+15C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002842311] Chr19:2431533 [GRCh38]
Chr19:2431531 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.981+14C>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002843172] Chr19:2434774 [GRCh38]
Chr19:2434772 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003081484] Chr19:2434056 [GRCh38]
Chr19:2434054 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.481G>A (p.Val161Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002914393] Chr19:2438452 [GRCh38]
Chr19:2438450 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1572C>T (p.Arg524=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002640296] Chr19:2432434 [GRCh38]
Chr19:2432432 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1744G>A (p.Val582Met) single nucleotide variant Inborn genetic diseases [RCV002953404]|Progressive myoclonic epilepsy type 9 [RCV002953405] Chr19:2431625 [GRCh38]
Chr19:2431623 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003081346] Chr19:2431800 [GRCh38]
Chr19:2431798 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.931C>T (p.Arg311Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002590461] Chr19:2434838 [GRCh38]
Chr19:2434836 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1266C>T (p.Ser422=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002909293] Chr19:2434042 [GRCh38]
Chr19:2434040 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1476G>A (p.Ser492=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002569588] Chr19:2433832 [GRCh38]
Chr19:2433830 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1437C>T (p.Ile479=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002591760] Chr19:2433871 [GRCh38]
Chr19:2433869 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002619762] Chr19:2444524 [GRCh38]
Chr19:2444522 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1822-20TCCT[3] microsatellite Progressive myoclonic epilepsy type 9 [RCV003077291] Chr19:2430957..2430960 [GRCh38]
Chr19:2430955..2430958 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.27T>C (p.Arg9=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002592741] Chr19:2456907 [GRCh38]
Chr19:2456905 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003085945] Chr19:2435042 [GRCh38]
Chr19:2435040 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.645G>T (p.Leu215=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002625802] Chr19:2438202 [GRCh38]
Chr19:2438200 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg) single nucleotide variant LMNB2-related condition [RCV003404040]|Progressive myoclonic epilepsy type 9 [RCV003059065] Chr19:2435117 [GRCh38]
Chr19:2435115 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1582A>C (p.Met528Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002667367] Chr19:2432424 [GRCh38]
Chr19:2432422 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1591-8G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003085853] Chr19:2431910 [GRCh38]
Chr19:2431908 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.701G>A (p.Arg234Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002766063] Chr19:2435155 [GRCh38]
Chr19:2435153 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.156G>A (p.Glu52=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002917813] Chr19:2456778 [GRCh38]
Chr19:2456776 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003081975] Chr19:2438456 [GRCh38]
Chr19:2438454 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.437A>G (p.Gln146Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003006126] Chr19:2438496 [GRCh38]
Chr19:2438494 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1578C>T (p.Gly526=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002928502] Chr19:2432428 [GRCh38]
Chr19:2432426 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1267G>T (p.Gly423Cys) single nucleotide variant Inborn genetic diseases [RCV002788415] Chr19:2434041 [GRCh38]
Chr19:2434039 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002595636] Chr19:2435140 [GRCh38]
Chr19:2435138 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.218G>C (p.Arg73Pro) single nucleotide variant Inborn genetic diseases [RCV002929587] Chr19:2456716 [GRCh38]
Chr19:2456714 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1302T>A (p.Ser434Arg) single nucleotide variant Inborn genetic diseases [RCV002930806] Chr19:2434006 [GRCh38]
Chr19:2434004 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003091654] Chr19:2438279 [GRCh38]
Chr19:2438277 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003091925] Chr19:2435149 [GRCh38]
Chr19:2435147 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.559-14C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002631749] Chr19:2438302 [GRCh38]
Chr19:2438300 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002651412] Chr19:2434023 [GRCh38]
Chr19:2434021 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.125C>T (p.Ser42Leu) single nucleotide variant Inborn genetic diseases [RCV002746919] Chr19:2456809 [GRCh38]
Chr19:2456807 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1551C>T (p.Phe517=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003087423] Chr19:2432455 [GRCh38]
Chr19:2432453 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.856-12G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002648100] Chr19:2434925 [GRCh38]
Chr19:2434923 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1667C>T (p.Thr556Met) single nucleotide variant Inborn genetic diseases [RCV002668555] Chr19:2431826 [GRCh38]
Chr19:2431824 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1404C>G (p.Ala468=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003060480] Chr19:2433904 [GRCh38]
Chr19:2433902 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.798G>A (p.Gln266=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003088497] Chr19:2435058 [GRCh38]
Chr19:2435056 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1711-16G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002715814] Chr19:2431674 [GRCh38]
Chr19:2431672 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1729G>A (p.Val577Met) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003026438] Chr19:2431640 [GRCh38]
Chr19:2431638 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003009193] Chr19:2434460 [GRCh38]
Chr19:2434458 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1446G>A (p.Glu482=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002581580] Chr19:2433862 [GRCh38]
Chr19:2433860 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002942987] Chr19:2433947 [GRCh38]
Chr19:2433945 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.310C>G (p.Arg104Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002814506] Chr19:2444495 [GRCh38]
Chr19:2444493 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.559-19G>A single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002633170] Chr19:2438307 [GRCh38]
Chr19:2438305 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.66C>T (p.Ala22=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002603056] Chr19:2456868 [GRCh38]
Chr19:2456866 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1590G>A (p.Thr530=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002942239] Chr19:2432416 [GRCh38]
Chr19:2432414 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1409C>T (p.Ala470Val) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002635011] Chr19:2433899 [GRCh38]
Chr19:2433897 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.912C>T (p.Arg304=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002610810] Chr19:2434857 [GRCh38]
Chr19:2434855 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.260G>A (p.Arg87His) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003071649] Chr19:2456674 [GRCh38]
Chr19:2456672 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1365C>G (p.Gly455=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003051352]|not provided [RCV003410061] Chr19:2433943 [GRCh38]
Chr19:2433941 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.391G>A (p.Val131Ile) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002942905] Chr19:2444414 [GRCh38]
Chr19:2444412 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.684+14C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV002612382] Chr19:2438149 [GRCh38]
Chr19:2438147 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.18_39dup (p.Arg14fs) duplication not provided [RCV003131495] Chr19:2456894..2456895 [GRCh38]
Chr19:2456892..2456893 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1163T>G (p.Ile388Ser) single nucleotide variant Lipodystrophy, partial, acquired, susceptibility to [RCV003326322] Chr19:2434334 [GRCh38]
Chr19:2434332 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.976A>G (p.Lys326Glu) single nucleotide variant Inborn genetic diseases [RCV003362311] Chr19:2434793 [GRCh38]
Chr19:2434791 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.859G>A (p.Asp287Asn) single nucleotide variant Microcephaly 27, primary, autosomal dominant [RCV003333533] Chr19:2434910 [GRCh38]
Chr19:2434908 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_032737.4(LMNB2):c.16C>G (p.Pro6Ala) single nucleotide variant not provided [RCV003421726] Chr19:2456918 [GRCh38]
Chr19:2456916 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu) single nucleotide variant Neurodevelopmental disorder [RCV003389197] Chr19:2456698 [GRCh38]
Chr19:2456696 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1648G>C (p.Gly550Arg) single nucleotide variant LMNB2-related condition [RCV003411985] Chr19:2431845 [GRCh38]
Chr19:2431843 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu) single nucleotide variant Neurodevelopmental disorder [RCV003389196] Chr19:2456815 [GRCh38]
Chr19:2456813 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1077G>A (p.Glu359=) single nucleotide variant not provided [RCV003457276] Chr19:2434420 [GRCh38]
Chr19:2434418 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.669G>T (p.Lys223Asn) single nucleotide variant not provided [RCV003457277] Chr19:2438178 [GRCh38]
Chr19:2438176 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1859T>C (p.Met620Thr) single nucleotide variant not provided [RCV003413521] Chr19:2430915 [GRCh38]
Chr19:2430913 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile) indel Progressive myoclonic epilepsy type 9 [RCV003789628] Chr19:2444409..2444410 [GRCh38]
Chr19:2444407..2444408 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003789722] Chr19:2444512 [GRCh38]
Chr19:2444510 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.417G>A (p.Glu139=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003786869] Chr19:2438516 [GRCh38]
Chr19:2438514 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003788484] Chr19:2431887 [GRCh38]
Chr19:2431885 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003781152] Chr19:2434094 [GRCh38]
Chr19:2434092 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003787986] Chr19:2433879 [GRCh38]
Chr19:2433877 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003789422] Chr19:2456894 [GRCh38]
Chr19:2456892 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1581G>A (p.Gln527=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003789493] Chr19:2432425 [GRCh38]
Chr19:2432423 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1711-19C>T single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003790718] Chr19:2431677 [GRCh38]
Chr19:2431675 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003789755] Chr19:2438279 [GRCh38]
Chr19:2438277 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_032737.4(LMNB2):c.1116C>T (p.Ala372=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003780735] Chr19:2434381 [GRCh38]
Chr19:2434379 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1821+15C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003781129] Chr19:2431533 [GRCh38]
Chr19:2431531 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1554G>A (p.Thr518=) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003788740] Chr19:2432452 [GRCh38]
Chr19:2432450 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.1822-10C>G single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003788355] Chr19:2430962 [GRCh38]
Chr19:2430960 [GRCh37]
Chr19:19p13.3
likely benign
NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys) single nucleotide variant Progressive myoclonic epilepsy type 9 [RCV003788173] Chr19:2438216 [GRCh38]
Chr19:2438214 [GRCh37]
Chr19:19p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4566
Count of miRNA genes:1111
Interacting mature miRNAs:1399
Transcripts:ENST00000325327, ENST00000475819, ENST00000490554, ENST00000527409, ENST00000532465, ENST00000534495, ENST00000582871
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
D19S839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,430,143 - 2,430,293UniSTSGRCh37
Build 36192,381,143 - 2,381,293RGDNCBI36
Celera192,367,634 - 2,367,784RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,202,194 - 2,202,344UniSTS
RH80287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,430,649 - 2,430,888UniSTSGRCh37
Build 36192,381,649 - 2,381,888RGDNCBI36
Celera192,368,140 - 2,368,379RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,202,700 - 2,202,939UniSTS
GeneMap99-GB4 RH Map1925.92UniSTS
PMC291826P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,428,042 - 2,428,210UniSTSGRCh37
Build 36192,379,042 - 2,379,210RGDNCBI36
Celera192,365,533 - 2,365,701RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,200,093 - 2,200,261UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 1926 1024 1283 214 1171 107 3196 1181 2123 281 1419 1564 121 857 1946 4
Low 506 1955 440 408 771 357 1159 1012 1584 137 30 44 50 347 842
Below cutoff 5 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL560944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE791439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE791473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM757169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP137589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000325327   ⟹   ENSP00000327054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,428,166 - 2,456,959 (-)Ensembl
RefSeq Acc Id: ENST00000475819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,429,471 - 2,431,829 (-)Ensembl
RefSeq Acc Id: ENST00000490554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,432,508 - 2,434,959 (-)Ensembl
RefSeq Acc Id: ENST00000527409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,434,295 - 2,437,158 (-)Ensembl
RefSeq Acc Id: ENST00000532465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,427,638 - 2,433,899 (-)Ensembl
RefSeq Acc Id: ENST00000534495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,435,003 - 2,437,121 (-)Ensembl
RefSeq Acc Id: NM_032737   ⟹   NP_116126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,428,166 - 2,456,959 (-)NCBI
GRCh37192,428,163 - 2,456,966 (-)NCBI
Build 36192,379,164 - 2,407,958 (-)NCBI Archive
HuRef192,200,214 - 2,228,845 (-)NCBI
CHM1_1192,427,662 - 2,456,465 (-)NCBI
T2T-CHM13v2.0192,403,957 - 2,432,750 (-)NCBI
Sequence:
RefSeq Acc Id: NP_116126   ⟸   NM_032737
- UniProtKB: Q14734 (UniProtKB/Swiss-Prot),   O75292 (UniProtKB/Swiss-Prot),   Q96DF6 (UniProtKB/Swiss-Prot),   Q03252 (UniProtKB/Swiss-Prot),   A0A384NPH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000327054   ⟸   ENST00000325327
Protein Domains
IF rod   LTD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03252-F1-model_v2 AlphaFold Q03252 1-620 view protein structure

Promoters
RGD ID:6795749
Promoter ID:HG_KWN:28470
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:OTTHUMT00000319205,   UC002LWA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,407,756 - 2,408,256 (-)MPROMDB
RGD ID:7237945
Promoter ID:EPDNEW_H24718
Type:initiation region
Name:LMNB2_1
Description:lamin B2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,456,959 - 2,457,019EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6638 AgrOrtholog
COSMIC LMNB2 COSMIC
Ensembl Genes ENSG00000176619 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325327 ENTREZGENE
  ENST00000325327.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176619 GTEx
HGNC ID HGNC:6638 ENTREZGENE
Human Proteome Map LMNB2 Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamin_tail_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lamin_tail_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84823 UniProtKB/Swiss-Prot
NCBI Gene 84823 ENTREZGENE
OMIM 150341 OMIM
PANTHER LAMIN DM0-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMIN-B2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30404 PharmGKB
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74853 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A7M1X5_HUMAN UniProtKB/TrEMBL
  A0A384NPH0 ENTREZGENE, UniProtKB/TrEMBL
  LMNB2_HUMAN UniProtKB/Swiss-Prot
  O75292 ENTREZGENE
  Q03252 ENTREZGENE
  Q14734 ENTREZGENE
  Q96DF6 ENTREZGENE
UniProt Secondary O75292 UniProtKB/Swiss-Prot
  Q14734 UniProtKB/Swiss-Prot
  Q96DF6 UniProtKB/Swiss-Prot