LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) - Rat Genome Database

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Gene: LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) Homo sapiens
Analyze
Symbol: LETM1
Name: leucine zipper and EF-hand containing transmembrane protein 1
RGD ID: 1352340
HGNC Page HGNC:6556
Description: Enables calcium:proton antiporter activity. Involved in several processes, including cristae formation; monoatomic cation transmembrane transport; and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CONDMIM; electroneutral mitochondrial K(+)/H(+)exchanger; KHE; LETM1 and EF-hand domain-containing protein 1, mitochondrial; leucine zipper-EF-hand containing transmembrane protein 1; leucine zipper-EF-hand-containing transmembrane protein 1; Mdm38; Mdm38 homolog; SLC55A1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LETM1P1   LETM1P2   LETM1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,811,479 - 1,856,156 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,811,479 - 1,856,156 (-)EnsemblGRCh38hg38GRCh38
GRCh3741,813,206 - 1,857,883 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,784,558 - 1,827,772 (-)NCBINCBI36Build 36hg18NCBI36
Build 3441,781,990 - 1,825,205NCBI
Celera41,725,718 - 1,769,826 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,756,076 - 1,799,634 (-)NCBIHuRef
CHM1_141,811,156 - 1,856,557 (-)NCBICHM1_1
T2T-CHM13v2.041,809,954 - 1,854,630 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial inner membrane  (IDA,IEA)
mitochondrion  (HTP,IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
3-Methylglutaconic aciduria  (IAGP)
Abdominal situs inversus  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal lip morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal sternal ossification  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of the gallbladder  (IAGP)
Abnormality of the genital system  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the mouth  (IAGP)
Abnormality of the philtrum  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the vertebral column  (IAGP)
Absent septum pellucidum  (IAGP)
Accessory spleen  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alpha-aminoadipic aciduria  (IAGP)
Aplasia cutis congenita of scalp  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Arachnodactyly  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Biliary tract abnormality  (IAGP)
Brisk reflexes  (IAGP)
Calvarial skull defect  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cavum septum pellucidum  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Childhood onset  (IAGP)
Chronic otitis media  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Convex nasal ridge  (IAGP)
Craniofacial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased fetal movement  (IAGP)
Decreased muscle mass  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Developmental regression  (IAGP)
Disproportionate tall stature  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Dry skin  (IAGP)
Ectopia pupillae  (IAGP)
EEG abnormality  (IAGP)
Elevated urine acetoacetic acid level  (IAGP)
Ependymoma  (IAGP)
Epicanthus  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Frontal bossing  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hemangioma  (IAGP)
Hernia  (IAGP)
High anterior hairline  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hydrocephalus  (IAGP)
Hyperconvex fingernails  (IAGP)
Hyperkinetic movements  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplastic pubic ramus  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating lactate concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Loss of ambulation  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Malrotation of small bowel  (IAGP)
Megalocornea  (IAGP)
Metacarpal pseudoepiphysis  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Motor stereotypy  (IAGP)
Narrow forehead  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Opto-chiasmatic atrophy  (IAGP)
Orofacial cleft  (IAGP)
Osteoporosis  (IAGP)
Pericardial effusion  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular cysts  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Precocious puberty  (IAGP)
Prominent glabella  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Retinopathy  (IAGP)
Rib fusion  (IAGP)
Rib segmentation abnormalities  (IAGP)
Rieger anomaly  (IAGP)
Sacral dimple  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Short hallux  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Short upper lip  (IAGP)
Single transverse palmar crease  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Small for gestational age  (IAGP)
Spasticity  (IAGP)
Split hand  (IAGP)
Sporadic  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Streak ovary  (IAGP)
Talipes equinovarus  (IAGP)
Taurodontia  (IAGP)
Tethered cord  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral fusion  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10486213   PMID:12477932   PMID:12665801   PMID:14706454   PMID:15138253   PMID:15489334   PMID:17606466   PMID:17925330   PMID:18029348   PMID:18628306   PMID:19168126   PMID:19318571  
PMID:19797662   PMID:20186120   PMID:20301362   PMID:20824095   PMID:20877624   PMID:21613221   PMID:21815251   PMID:21873635   PMID:21903422   PMID:22641639   PMID:22939629   PMID:23645710  
PMID:23716663   PMID:23874603   PMID:23963300   PMID:23979707   PMID:24255178   PMID:24344246   PMID:24626991   PMID:24689060   PMID:24898248   PMID:25077561   PMID:25416956   PMID:25617527  
PMID:25921289   PMID:26186194   PMID:26722481   PMID:26972000   PMID:26975899   PMID:27499296   PMID:27556512   PMID:27880917   PMID:28514442   PMID:28515276   PMID:28712289   PMID:29048663  
PMID:29180619   PMID:29395067   PMID:29507755   PMID:29568061   PMID:30012579   PMID:30021884   PMID:30031102   PMID:30442662   PMID:30642051   PMID:30669930   PMID:30737378   PMID:30833792  
PMID:30884312   PMID:30948266   PMID:31006538   PMID:31056398   PMID:31091453   PMID:31101574   PMID:31500591   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31705880   PMID:31871319  
PMID:32129710   PMID:32139798   PMID:32296183   PMID:32552912   PMID:32628020   PMID:32633345   PMID:32705272   PMID:32877691   PMID:32994395   PMID:33226137   PMID:33314691   PMID:33576522  
PMID:33742100   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34373451   PMID:34578187   PMID:34605738   PMID:34709727   PMID:34800366   PMID:35012549   PMID:35032548  
PMID:35241646   PMID:35271311   PMID:35575683   PMID:35831314   PMID:35906200   PMID:35944360   PMID:36042349   PMID:36055214   PMID:36056285   PMID:36215168   PMID:36217030   PMID:36261009  
PMID:36321428   PMID:36543142   PMID:37314216   PMID:37433992   PMID:37827155   PMID:38334954   PMID:38777146   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
LETM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,811,479 - 1,856,156 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,811,479 - 1,856,156 (-)EnsemblGRCh38hg38GRCh38
GRCh3741,813,206 - 1,857,883 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,784,558 - 1,827,772 (-)NCBINCBI36Build 36hg18NCBI36
Build 3441,781,990 - 1,825,205NCBI
Celera41,725,718 - 1,769,826 (-)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,756,076 - 1,799,634 (-)NCBIHuRef
CHM1_141,811,156 - 1,856,557 (-)NCBICHM1_1
T2T-CHM13v2.041,809,954 - 1,854,630 (-)NCBIT2T-CHM13v2.0
Letm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39533,897,017 - 33,940,061 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl533,897,017 - 33,940,161 (-)EnsemblGRCm39 Ensembl
GRCm38533,739,673 - 33,782,717 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl533,739,673 - 33,782,817 (-)EnsemblGRCm38mm10GRCm38
MGSCv37534,084,001 - 34,125,353 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36534,058,209 - 34,099,561 (-)NCBIMGSCv36mm8
Celera531,217,468 - 31,258,804 (-)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.83NCBI
Letm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81481,167,268 - 81,206,776 (+)NCBIGRCr8
mRatBN7.21476,942,647 - 76,982,220 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,942,729 - 76,984,904 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1481,395,109 - 81,434,584 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01482,635,714 - 82,675,193 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01479,081,018 - 79,120,498 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01482,227,790 - 82,267,298 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1482,227,708 - 82,267,350 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01482,917,692 - 82,959,167 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41482,637,839 - 82,677,419 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11482,640,229 - 82,679,808 (+)NCBI
Celera1475,866,265 - 75,905,572 (+)NCBICelera
Cytogenetic Map14q21NCBI
Letm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,042,307 - 1,069,114 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555141,040,103 - 1,069,297 (-)NCBIChiLan1.0ChiLan1.0
LETM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v232,141,769 - 2,187,380 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan142,078,781 - 2,124,399 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v041,953,033 - 1,994,958 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.141,862,788 - 1,897,029 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl41,862,788 - 1,900,901 (-)Ensemblpanpan1.1panPan2
LETM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1362,268,027 - 62,304,767 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl362,267,708 - 62,302,136 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha364,785,792 - 64,822,554 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0362,743,457 - 62,780,252 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl362,743,480 - 62,778,969 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1362,237,035 - 62,273,781 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0362,440,602 - 62,477,319 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0362,799,711 - 62,836,516 (+)NCBIUU_Cfam_GSD_1.0
Letm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,848,412 - 67,887,970 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647721,550,013 - 21,587,007 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647721,550,104 - 21,589,662 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LETM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8898,181 - 926,593 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18898,178 - 926,500 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28349,636 - 376,777 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LETM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12746,912,882 - 46,954,295 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2746,912,819 - 46,956,164 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660513,289,082 - 3,330,719 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Letm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475525,604,454 - 25,631,716 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475525,604,636 - 25,631,974 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LETM1
238 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3 copy number gain See cases [RCV000051564] Chr4:1196923..2487080 [GRCh38]
Chr4:1190711..2488807 [GRCh37]
Chr4:1180711..2458605 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3 copy number gain See cases [RCV000137955] Chr4:1723429..2286479 [GRCh38]
Chr4:1725156..2288206 [GRCh37]
Chr4:1694954..2258004 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:1825301-1859026)x1 copy number loss See cases [RCV000140983] Chr4:1825301..1859026 [GRCh38]
Chr4:1827028..1860753 [GRCh37]
Chr4:1796826..1830551 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3(chr4:1813036-1849079)x1 copy number loss See cases [RCV000142777] Chr4:1813036..1849079 [GRCh38]
Chr4:1814763..1850806 [GRCh37]
Chr4:1784561..1820604 [NCBI36]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1 copy number loss See cases [RCV000143548] Chr4:1699291..1973304 [GRCh38]
Chr4:1701018..1975031 [GRCh37]
Chr4:1670816..1944829 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3 copy number gain See cases [RCV000143647] Chr4:1423130..2053191 [GRCh38]
Chr4:1416918..2054918 [GRCh37]
Chr4:1406918..2024716 [NCBI36]
Chr4:4p16.3		 likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1 copy number loss See cases [RCV000239816] Chr4:1190911..2255904 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1229130-1852978)x3 copy number gain See cases [RCV000449380] Chr4:1229130..1852978 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:1777904-2437290)x3 copy number gain See cases [RCV000510995] Chr4:1777904..2437290 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_012318.3(LETM1):c.286G>A (p.Val96Met) single nucleotide variant Ependymoma [RCV000577863] Chr4:1841655 [GRCh38]
Chr4:1843382 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1401G>C (p.Glu467Asp) single nucleotide variant Inborn genetic diseases [RCV003277007] Chr4:1823063 [GRCh38]
Chr4:1824790 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.65G>C (p.Arg22Pro) single nucleotide variant Inborn genetic diseases [RCV003287613] Chr4:1855886 [GRCh38]
Chr4:1857613 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.334C>T (p.Arg112Cys) single nucleotide variant Inborn genetic diseases [RCV003304313] Chr4:1841607 [GRCh38]
Chr4:1843334 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.257C>G (p.Ala86Gly) single nucleotide variant Inborn genetic diseases [RCV003263768] Chr4:1841684 [GRCh38]
Chr4:1843411 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3 copy number gain not provided [RCV000682366] Chr4:1770486..2303110 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1784694-1919793)x1 copy number loss not provided [RCV000682367] Chr4:1784694..1919793 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1500754-2344692)x3 copy number gain not provided [RCV000743203] Chr4:1500754..2344692 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1742616-1816281)x3 copy number gain not provided [RCV000743211] Chr4:1742616..1816281 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:1809650-1865381)x1 copy number loss not provided [RCV000743212] Chr4:1809650..1865381 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_012318.3(LETM1):c.1467G>A (p.Ser489=) single nucleotide variant not provided [RCV000905507] Chr4:1822997 [GRCh38]
Chr4:1824724 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.696C>T (p.Phe232=) single nucleotide variant not provided [RCV000905508] Chr4:1836471 [GRCh38]
Chr4:1838198 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1817A>G (p.Lys606Arg) single nucleotide variant not provided [RCV000972711] Chr4:1816841 [GRCh38]
Chr4:1818568 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1527C>T (p.Thr509=) single nucleotide variant not provided [RCV000982665] Chr4:1822262 [GRCh38]
Chr4:1823989 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV000969182] Chr4:1855870 [GRCh38]
Chr4:1857597 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1760A>G (p.Lys587Arg) single nucleotide variant not provided [RCV000950394] Chr4:1816898 [GRCh38]
Chr4:1818625 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) single nucleotide variant 4p partial monosomy syndrome [RCV002489385]|not provided [RCV000966177] Chr4:1841548 [GRCh38]
Chr4:1843275 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_012318.3(LETM1):c.804C>T (p.Ile268=) single nucleotide variant not provided [RCV000900997] Chr4:1834917 [GRCh38]
Chr4:1836644 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1476+7G>A single nucleotide variant not provided [RCV000883916] Chr4:1822981 [GRCh38]
Chr4:1824708 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.877-5C>G single nucleotide variant not provided [RCV000937243] Chr4:1832952 [GRCh38]
Chr4:1834679 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1029C>T (p.Phe343=) single nucleotide variant not provided [RCV000976141] Chr4:1832795 [GRCh38]
Chr4:1834522 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1911G>A (p.Pro637=) single nucleotide variant not provided [RCV000881993] Chr4:1816747 [GRCh38]
Chr4:1818474 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.2139A>G (p.Thr713=) single nucleotide variant not provided [RCV000937519] Chr4:1814505 [GRCh38]
Chr4:1816232 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.282T>C (p.Gly94=) single nucleotide variant not provided [RCV000944487] Chr4:1841659 [GRCh38]
Chr4:1843386 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.432C>G (p.Pro144=) single nucleotide variant not provided [RCV000879644] Chr4:1841509 [GRCh38]
Chr4:1843236 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.477C>T (p.Asp159=) single nucleotide variant not provided [RCV000899903] Chr4:1841464 [GRCh38]
Chr4:1843191 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.2070+9C>T single nucleotide variant not provided [RCV000905506] Chr4:1815655 [GRCh38]
Chr4:1817382 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1764G>A (p.Lys588=) single nucleotide variant not provided [RCV000961509] Chr4:1816894 [GRCh38]
Chr4:1818621 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.486G>A (p.Lys162=) single nucleotide variant not provided [RCV000919376] Chr4:1841455 [GRCh38]
Chr4:1843182 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1407G>A (p.Thr469=) single nucleotide variant not provided [RCV000897000] Chr4:1823057 [GRCh38]
Chr4:1824784 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.2090A>G (p.Lys697Arg) single nucleotide variant not provided [RCV000886515] Chr4:1814554 [GRCh38]
Chr4:1816281 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.843C>T (p.Ser281=) single nucleotide variant not provided [RCV000916842] Chr4:1834878 [GRCh38]
Chr4:1836605 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.948G>A (p.Leu316=) single nucleotide variant not provided [RCV000977330] Chr4:1832876 [GRCh38]
Chr4:1834603 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1938C>T (p.Asn646=) single nucleotide variant not provided [RCV000918578] Chr4:1815796 [GRCh38]
Chr4:1817523 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1200+9_1200+33del deletion not provided [RCV000896234] Chr4:1825531..1825555 [GRCh38]
Chr4:1827258..1827282 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.244A>G (p.Ile82Val) single nucleotide variant not provided [RCV000894012] Chr4:1841697 [GRCh38]
Chr4:1843424 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1744-4T>C single nucleotide variant not provided [RCV000909966] Chr4:1816918 [GRCh38]
Chr4:1818645 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.441G>C (p.Val147=) single nucleotide variant not provided [RCV000917324] Chr4:1841500 [GRCh38]
Chr4:1843227 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1521G>A (p.Pro507=) single nucleotide variant not provided [RCV000941599] Chr4:1822268 [GRCh38]
Chr4:1823995 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1647C>T (p.Ser549=) single nucleotide variant not provided [RCV000916941] Chr4:1819434 [GRCh38]
Chr4:1821161 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:1305802-2460571) copy number loss 4p partial monosomy syndrome [RCV000767708] Chr4:1305802..2460571 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.411C>T (p.Gly137=) single nucleotide variant not provided [RCV000975792] Chr4:1841530 [GRCh38]
Chr4:1843257 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1608+8G>C single nucleotide variant not provided [RCV000943075] Chr4:1822173 [GRCh38]
Chr4:1823900 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.148G>A (p.Val50Ile) single nucleotide variant not provided [RCV000964956] Chr4:1841793 [GRCh38]
Chr4:1843520 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) single nucleotide variant 4p partial monosomy syndrome [RCV001195997] Chr4:1823715 [GRCh38]
Chr4:1825442 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.888A>G (p.Thr296=) single nucleotide variant not provided [RCV000933503] Chr4:1832936 [GRCh38]
Chr4:1834663 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.618C>A (p.Leu206=) single nucleotide variant not provided [RCV000974605] Chr4:1836549 [GRCh38]
Chr4:1838276 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.834C>A (p.Ala278=) single nucleotide variant not provided [RCV000974604] Chr4:1834887 [GRCh38]
Chr4:1836614 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.855C>T (p.Asp285=) single nucleotide variant not provided [RCV000908044] Chr4:1834866 [GRCh38]
Chr4:1836593 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.2127G>A (p.Glu709=) single nucleotide variant not provided [RCV000908551] Chr4:1814517 [GRCh38]
Chr4:1816244 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1931+7G>C single nucleotide variant not provided [RCV000919130] Chr4:1816720 [GRCh38]
Chr4:1818447 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1044T>C (p.Leu348=) single nucleotide variant not provided [RCV000892766] Chr4:1832780 [GRCh38]
Chr4:1834507 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1995A>C (p.Glu665Asp) single nucleotide variant not provided [RCV000884493] Chr4:1815739 [GRCh38]
Chr4:1817466 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.432C>T (p.Pro144=) single nucleotide variant not provided [RCV000926731] Chr4:1841509 [GRCh38]
Chr4:1843236 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.53C>G (p.Pro18Arg) single nucleotide variant Inborn genetic diseases [RCV003353094]|not provided [RCV000938911] Chr4:1855898 [GRCh38]
Chr4:1857625 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_012318.3(LETM1):c.1917C>T (p.Asn639=) single nucleotide variant not provided [RCV000913136] Chr4:1816741 [GRCh38]
Chr4:1818468 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_012318.3(LETM1):c.595-10C>T single nucleotide variant not provided [RCV001710366] Chr4:1836582 [GRCh38]
Chr4:1838309 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3 copy number gain See cases [RCV001263050] Chr4:1420948..1836794 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:1778534-1912732)x3 copy number gain not provided [RCV001258637] Chr4:1778534..1912732 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.40C>T (p.Pro14Ser) single nucleotide variant not provided [RCV001510223] Chr4:1855911 [GRCh38]
Chr4:1857638 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1496G>A (p.Arg499His) single nucleotide variant not provided [RCV001518026] Chr4:1822293 [GRCh38]
Chr4:1824020 [GRCh37]
Chr4:4p16.3		 benign
NC_000004.11:g.(?_1619775)_(2181192_?)del deletion not provided [RCV001388563] Chr4:1619775..2181192 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1500G>C (p.Val500=) single nucleotide variant not provided [RCV001404041] Chr4:1822289 [GRCh38]
Chr4:1824016 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_012318.3(LETM1):c.344G>A (p.Arg115His) single nucleotide variant not provided [RCV001509691] Chr4:1841597 [GRCh38]
Chr4:1843324 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.594+13T>C single nucleotide variant not provided [RCV001516401] Chr4:1841334 [GRCh38]
Chr4:1843061 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.326A>G (p.His109Arg) single nucleotide variant 4p partial monosomy syndrome [RCV002506630]|not provided [RCV001521786] Chr4:1841615 [GRCh38]
Chr4:1843342 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1791G>A (p.Lys597=) single nucleotide variant not provided [RCV001515397] Chr4:1816867 [GRCh38]
Chr4:1818594 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.885A>G (p.Glu295=) single nucleotide variant not provided [RCV001512410] Chr4:1832939 [GRCh38]
Chr4:1834666 [GRCh37]
Chr4:4p16.3		 benign
Single allele complex Heart, malformation of [RCV002280661] Chr4:68345..1870548 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.8C>T (p.Ser3Phe) single nucleotide variant Inborn genetic diseases [RCV002555708]|not provided [RCV001909733] Chr4:1855943 [GRCh38]
Chr4:1857670 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1200+4C>T single nucleotide variant not provided [RCV001929759] Chr4:1825560 [GRCh38]
Chr4:1827287 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.354G>A (p.Ser118=) single nucleotide variant not provided [RCV001864317] Chr4:1841587 [GRCh38]
Chr4:1843314 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.919C>T (p.Arg307Cys) single nucleotide variant not provided [RCV001912728] Chr4:1832905 [GRCh38]
Chr4:1834632 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1466C>G (p.Ser489Trp) single nucleotide variant not provided [RCV002007094] Chr4:1822998 [GRCh38]
Chr4:1824725 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.888_889del (p.Arg299fs) deletion not provided [RCV001864393] Chr4:1832935..1832936 [GRCh38]
Chr4:1834662..1834663 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1740C>T (p.Ser580=) single nucleotide variant LETM1-related disorder [RCV003923410]|not provided [RCV002021400] Chr4:1819341 [GRCh38]
Chr4:1821068 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_012318.3(LETM1):c.427C>A (p.Pro143Thr) single nucleotide variant not provided [RCV001893223] Chr4:1841514 [GRCh38]
Chr4:1843241 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1741G>A (p.Glu581Lys) single nucleotide variant not provided [RCV002020566] Chr4:1819340 [GRCh38]
Chr4:1821067 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.533C>T (p.Ala178Val) single nucleotide variant Inborn genetic diseases [RCV002569305]|not provided [RCV001964176] Chr4:1841408 [GRCh38]
Chr4:1843135 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2071-3T>C single nucleotide variant not provided [RCV002022524] Chr4:1814576 [GRCh38]
Chr4:1816303 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.958A>G (p.Asn320Asp) single nucleotide variant not provided [RCV001965347] Chr4:1832866 [GRCh38]
Chr4:1834593 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_012318.3(LETM1):c.1462C>T (p.Arg488Cys) single nucleotide variant not provided [RCV001927696] Chr4:1823002 [GRCh38]
Chr4:1824729 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.317G>A (p.Arg106His) single nucleotide variant Inborn genetic diseases [RCV002560551]|not provided [RCV001964605] Chr4:1841624 [GRCh38]
Chr4:1843351 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1476+6C>T single nucleotide variant not provided [RCV001984784] Chr4:1822982 [GRCh38]
Chr4:1824709 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.41C>T (p.Pro14Leu) single nucleotide variant Inborn genetic diseases [RCV002555701]|not provided [RCV001909348] Chr4:1855910 [GRCh38]
Chr4:1857637 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1492G>A (p.Glu498Lys) single nucleotide variant Inborn genetic diseases [RCV004631833]|not provided [RCV001924163] Chr4:1822297 [GRCh38]
Chr4:1824024 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1834del (p.Val612fs) deletion not provided [RCV001905720] Chr4:1816824 [GRCh38]
Chr4:1818551 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1723G>T (p.Asp575Tyr) single nucleotide variant not provided [RCV001866534] Chr4:1819358 [GRCh38]
Chr4:1821085 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.550C>T (p.Arg184Cys) single nucleotide variant not provided [RCV001977425] Chr4:1841391 [GRCh38]
Chr4:1843118 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1463G>A (p.Arg488His) single nucleotide variant Inborn genetic diseases [RCV004043714]|not provided [RCV001958200] Chr4:1823001 [GRCh38]
Chr4:1824728 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1021AAC[3] (p.Asn342dup) microsatellite not provided [RCV001884997] Chr4:1832797..1832798 [GRCh38]
Chr4:1834524..1834525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.303G>C (p.Gln101His) single nucleotide variant not provided [RCV002029313] Chr4:1841638 [GRCh38]
Chr4:1843365 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1858G>A (p.Asp620Asn) single nucleotide variant not provided [RCV002013106] Chr4:1816800 [GRCh38]
Chr4:1818527 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2029G>A (p.Glu677Lys) single nucleotide variant not provided [RCV001977390] Chr4:1815705 [GRCh38]
Chr4:1817432 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.806A>G (p.Glu269Gly) single nucleotide variant not provided [RCV001976849] Chr4:1834915 [GRCh38]
Chr4:1836642 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2065854_?)del deletion not provided [RCV001975185] Chr4:493125..2065854 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1350G>A (p.Val450=) single nucleotide variant not provided [RCV002012900] Chr4:1823114 [GRCh38]
Chr4:1824841 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.756G>T (p.Lys252Asn) single nucleotide variant not provided [RCV002028177] Chr4:1834965 [GRCh38]
Chr4:1836692 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1052G>A (p.Arg351Gln) single nucleotide variant Inborn genetic diseases [RCV004044228]|not provided [RCV001921545] Chr4:1832772 [GRCh38]
Chr4:1834499 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1910C>T (p.Pro637Leu) single nucleotide variant not provided [RCV001936741] Chr4:1816748 [GRCh38]
Chr4:1818475 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.616C>G (p.Leu206Val) single nucleotide variant not provided [RCV001998305] Chr4:1836551 [GRCh38]
Chr4:1838278 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1332+4C>T single nucleotide variant not provided [RCV001998552] Chr4:1823640 [GRCh38]
Chr4:1825367 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1667A>G (p.Gln556Arg) single nucleotide variant not provided [RCV001864867] Chr4:1819414 [GRCh38]
Chr4:1821141 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.340G>C (p.Val114Leu) single nucleotide variant not provided [RCV001955701] Chr4:1841601 [GRCh38]
Chr4:1843328 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.358G>A (p.Val120Ile) single nucleotide variant not provided [RCV001975265] Chr4:1841583 [GRCh38]
Chr4:1843310 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.289G>A (p.Ala97Thr) single nucleotide variant not provided [RCV001900494] Chr4:1841652 [GRCh38]
Chr4:1843379 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.51C>T (p.Leu17=) single nucleotide variant not provided [RCV002111604] Chr4:1855900 [GRCh38]
Chr4:1857627 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.251C>G (p.Ser84Trp) single nucleotide variant not provided [RCV002191097] Chr4:1841690 [GRCh38]
Chr4:1843417 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.738+15C>T single nucleotide variant not provided [RCV002129076] Chr4:1836414 [GRCh38]
Chr4:1838141 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.333G>A (p.Ser111=) single nucleotide variant not provided [RCV002130329] Chr4:1841608 [GRCh38]
Chr4:1843335 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1635C>T (p.Ile545=) single nucleotide variant not provided [RCV002110966] Chr4:1819446 [GRCh38]
Chr4:1821173 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1333-19G>C single nucleotide variant not provided [RCV002126644] Chr4:1823150 [GRCh38]
Chr4:1824877 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.2163G>A (p.Glu721=) single nucleotide variant not provided [RCV002088223] Chr4:1814481 [GRCh38]
Chr4:1816208 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.258G>A (p.Ala86=) single nucleotide variant not provided [RCV002108494] Chr4:1841683 [GRCh38]
Chr4:1843410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.711A>G (p.Pro237=) single nucleotide variant not provided [RCV002175185] Chr4:1836456 [GRCh38]
Chr4:1838183 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.83-19dup duplication 4p partial monosomy syndrome [RCV002486858]|not provided [RCV002094795] Chr4:1849227..1849228 [GRCh38]
Chr4:1850954..1850955 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_012318.3(LETM1):c.1992C>T (p.Pro664=) single nucleotide variant not provided [RCV002171569] Chr4:1815742 [GRCh38]
Chr4:1817469 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1956G>A (p.Glu652=) single nucleotide variant not provided [RCV002188330] Chr4:1815778 [GRCh38]
Chr4:1817505 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1359C>T (p.Ala453=) single nucleotide variant not provided [RCV002209724] Chr4:1823105 [GRCh38]
Chr4:1824832 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1290C>T (p.Ala430=) single nucleotide variant not provided [RCV002173812] Chr4:1823686 [GRCh38]
Chr4:1825413 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.144-9dup duplication not provided [RCV002096960] Chr4:1841805..1841806 [GRCh38]
Chr4:1843532..1843533 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.83-16C>T single nucleotide variant not provided [RCV002131729] Chr4:1849225 [GRCh38]
Chr4:1850952 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.83-15dup duplication not provided [RCV002197020] Chr4:1849223..1849224 [GRCh38]
Chr4:1850950..1850951 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.82+12G>C single nucleotide variant not provided [RCV002123354] Chr4:1855857 [GRCh38]
Chr4:1857584 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1003C>T (p.Leu335=) single nucleotide variant not provided [RCV002204244] Chr4:1832821 [GRCh38]
Chr4:1834548 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.878T>A (p.Ile293Asn) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221675]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294478] Chr4:1832946 [GRCh38]
Chr4:1834673 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.898C>T (p.Pro300Ser) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221676]|not provided [RCV003128786] Chr4:1832926 [GRCh38]
Chr4:1834653 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_012318.3(LETM1):c.2094del (p.Asp699fs) deletion LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221677]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294479] Chr4:1814550 [GRCh38]
Chr4:1816277 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) single nucleotide variant Global developmental delay [RCV002226782]|LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221678]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294480] Chr4:1814424 [GRCh38]
Chr4:1816151 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_012318.3(LETM1):c.751AAG[1] (p.Lys252del) microsatellite LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221679] Chr4:1834965..1834967 [GRCh38]
Chr4:1836692..1836694 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.881G>A (p.Arg294Gln) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221680]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294481] Chr4:1832943 [GRCh38]
Chr4:1834670 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1072G>A (p.Asp358Asn) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221681] Chr4:1832752 [GRCh38]
Chr4:1834479 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1178G>A (p.Arg393His) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221682]|not provided [RCV002307757] Chr4:1825586 [GRCh38]
Chr4:1827313 [GRCh37]
Chr4:4p16.3		 likely pathogenic|uncertain significance
NM_012318.3(LETM1):c.1139G>C (p.Arg380Pro) single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221683] Chr4:1825625 [GRCh38]
Chr4:1827352 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.2071-9C>G single nucleotide variant LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221684]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294482] Chr4:1814582 [GRCh38]
Chr4:1816309 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1200+17C>T single nucleotide variant not provided [RCV002154501] Chr4:1825547 [GRCh38]
Chr4:1827274 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1051C>A (p.Arg351=) single nucleotide variant not provided [RCV002156042] Chr4:1832773 [GRCh38]
Chr4:1834500 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.999G>A (p.Leu333=) single nucleotide variant not provided [RCV002180689] Chr4:1832825 [GRCh38]
Chr4:1834552 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1728G>T (p.Val576=) single nucleotide variant not provided [RCV002176131] Chr4:1819353 [GRCh38]
Chr4:1821080 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.12C>G (p.Ile4Met) single nucleotide variant not provided [RCV002136850] Chr4:1855939 [GRCh38]
Chr4:1857666 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.657G>A (p.Pro219=) single nucleotide variant not provided [RCV003115871] Chr4:1836510 [GRCh38]
Chr4:1838237 [GRCh37]
Chr4:4p16.3		 likely benign
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1849G>A (p.Gly617Arg) single nucleotide variant not provided [RCV003114938] Chr4:1816809 [GRCh38]
Chr4:1818536 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(1843544_?)del deletion not provided [RCV003119410] Chr4:493125..1843544 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1937A>C (p.Asn646Thr) single nucleotide variant Inborn genetic diseases [RCV003277752] Chr4:1815797 [GRCh38]
Chr4:1817524 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_012318.3(LETM1):c.260C>G (p.Pro87Arg) single nucleotide variant Inborn genetic diseases [RCV003257425] Chr4:1841681 [GRCh38]
Chr4:1843408 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3 copy number gain not provided [RCV002473490] Chr4:1180181..2009278 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:1734046-1871531)x1 copy number loss not provided [RCV002473806] Chr4:1734046..1871531 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1 copy number loss not provided [RCV002472653] Chr4:68346..2437290 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1333-1G>C single nucleotide variant not provided [RCV002300918] Chr4:1823132 [GRCh38]
Chr4:1824859 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.583G>A (p.Glu195Lys) single nucleotide variant not provided [RCV002302280] Chr4:1841358 [GRCh38]
Chr4:1843085 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.346G>A (p.Asp116Asn) single nucleotide variant Inborn genetic diseases [RCV002993825]|not provided [RCV002993824] Chr4:1841595 [GRCh38]
Chr4:1843322 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.520G>T (p.Asp174Tyr) single nucleotide variant not provided [RCV002972687] Chr4:1841421 [GRCh38]
Chr4:1843148 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.455C>A (p.Ser152Tyr) single nucleotide variant Inborn genetic diseases [RCV002752020] Chr4:1841486 [GRCh38]
Chr4:1843213 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2117A>G (p.Gln706Arg) single nucleotide variant not provided [RCV002839495] Chr4:1814527 [GRCh38]
Chr4:1816254 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.416C>T (p.Pro139Leu) single nucleotide variant not provided [RCV002904093] Chr4:1841525 [GRCh38]
Chr4:1843252 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2202C>A (p.Val734=) single nucleotide variant not provided [RCV002862139] Chr4:1814442 [GRCh38]
Chr4:1816169 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1447A>G (p.Lys483Glu) single nucleotide variant not provided [RCV002903798] Chr4:1823017 [GRCh38]
Chr4:1824744 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.777G>A (p.Glu259=) single nucleotide variant not provided [RCV003073534] Chr4:1834944 [GRCh38]
Chr4:1836671 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.644T>G (p.Phe215Cys) single nucleotide variant Inborn genetic diseases [RCV002777689] Chr4:1836523 [GRCh38]
Chr4:1838250 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1058G>A (p.Arg353His) single nucleotide variant not provided [RCV002880796] Chr4:1832766 [GRCh38]
Chr4:1834493 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1077C>G (p.Asp359Glu) single nucleotide variant not provided [RCV002972457] Chr4:1832747 [GRCh38]
Chr4:1834474 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1293C>T (p.Asp431=) single nucleotide variant not provided [RCV002615617] Chr4:1823683 [GRCh38]
Chr4:1825410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1477-15C>T single nucleotide variant not provided [RCV002755699] Chr4:1822327 [GRCh38]
Chr4:1824054 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1518G>T (p.Arg506Ser) single nucleotide variant not provided [RCV003076266] Chr4:1822271 [GRCh38]
Chr4:1823998 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1987A>G (p.Ile663Val) single nucleotide variant not provided [RCV002616984] Chr4:1815747 [GRCh38]
Chr4:1817474 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1080+13A>G single nucleotide variant not provided [RCV002592732] Chr4:1832731 [GRCh38]
Chr4:1834458 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1333-12C>A single nucleotide variant not provided [RCV002622854] Chr4:1823143 [GRCh38]
Chr4:1824870 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.304T>G (p.Cys102Gly) single nucleotide variant not provided [RCV002740178] Chr4:1841637 [GRCh38]
Chr4:1843364 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1164C>T (p.Gly388=) single nucleotide variant not provided [RCV002619989] Chr4:1825600 [GRCh38]
Chr4:1827327 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1932-19G>A single nucleotide variant not provided [RCV002572156] Chr4:1815821 [GRCh38]
Chr4:1817548 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.205C>T (p.His69Tyr) single nucleotide variant not provided [RCV002640100] Chr4:1841736 [GRCh38]
Chr4:1843463 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1772C>A (p.Ser591Ter) single nucleotide variant not provided [RCV002999168] Chr4:1816886 [GRCh38]
Chr4:1818613 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.343C>T (p.Arg115Cys) single nucleotide variant Inborn genetic diseases [RCV002781700] Chr4:1841598 [GRCh38]
Chr4:1843325 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.210C>T (p.Leu70=) single nucleotide variant not provided [RCV002638939] Chr4:1841731 [GRCh38]
Chr4:1843458 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.423C>T (p.Tyr141=) single nucleotide variant not provided [RCV002760653] Chr4:1841518 [GRCh38]
Chr4:1843245 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1833G>A (p.Arg611=) single nucleotide variant not provided [RCV002639506] Chr4:1816825 [GRCh38]
Chr4:1818552 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1832G>C (p.Arg611Thr) single nucleotide variant not provided [RCV002592902] Chr4:1816826 [GRCh38]
Chr4:1818553 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1476G>A (p.Ala492=) single nucleotide variant not provided [RCV003080045] Chr4:1822988 [GRCh38]
Chr4:1824715 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1759A>C (p.Lys587Gln) single nucleotide variant Inborn genetic diseases [RCV002762038] Chr4:1816899 [GRCh38]
Chr4:1818626 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.968G>A (p.Arg323Gln) single nucleotide variant Inborn genetic diseases [RCV003349044]|not provided [RCV002592216] Chr4:1832856 [GRCh38]
Chr4:1834583 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.484A>C (p.Lys162Gln) single nucleotide variant Inborn genetic diseases [RCV002845541] Chr4:1841457 [GRCh38]
Chr4:1843184 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1201-17C>T single nucleotide variant not provided [RCV003008074] Chr4:1823792 [GRCh38]
Chr4:1825519 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.2071-15T>C single nucleotide variant not provided [RCV002829922] Chr4:1814588 [GRCh38]
Chr4:1816315 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.430C>T (p.Pro144Ser) single nucleotide variant Inborn genetic diseases [RCV002701974] Chr4:1841511 [GRCh38]
Chr4:1843238 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.68A>T (p.Tyr23Phe) single nucleotide variant not provided [RCV002645674] Chr4:1855883 [GRCh38]
Chr4:1857610 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV002745838] Chr4:1832853 [GRCh38]
Chr4:1834580 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1442G>T (p.Arg481Leu) single nucleotide variant Inborn genetic diseases [RCV002641700] Chr4:1823022 [GRCh38]
Chr4:1824749 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1422G>A (p.Ala474=) single nucleotide variant not provided [RCV002742031] Chr4:1823042 [GRCh38]
Chr4:1824769 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1520C>T (p.Pro507Leu) single nucleotide variant not provided [RCV003005325] Chr4:1822269 [GRCh38]
Chr4:1823996 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.478G>A (p.Glu160Lys) single nucleotide variant Inborn genetic diseases [RCV002873005] Chr4:1841463 [GRCh38]
Chr4:1843190 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1931+9G>A single nucleotide variant not provided [RCV002623286] Chr4:1816718 [GRCh38]
Chr4:1818445 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1346A>G (p.Gln449Arg) single nucleotide variant not provided [RCV003055934] Chr4:1823118 [GRCh38]
Chr4:1824845 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1333-9C>T single nucleotide variant not provided [RCV002596848] Chr4:1823140 [GRCh38]
Chr4:1824867 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.94G>T (p.Asp32Tyr) single nucleotide variant Inborn genetic diseases [RCV002666840]|not provided [RCV002666839] Chr4:1849198 [GRCh38]
Chr4:1850925 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1551C>G (p.Asp517Glu) single nucleotide variant Inborn genetic diseases [RCV002875234] Chr4:1822238 [GRCh38]
Chr4:1823965 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.387C>G (p.Asp129Glu) single nucleotide variant not provided [RCV002711646] Chr4:1841554 [GRCh38]
Chr4:1843281 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.83-3C>T single nucleotide variant not provided [RCV002712060] Chr4:1849212 [GRCh38]
Chr4:1850939 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1538C>A (p.Pro513Gln) single nucleotide variant Inborn genetic diseases [RCV002929751] Chr4:1822251 [GRCh38]
Chr4:1823978 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.426C>T (p.Ser142=) single nucleotide variant not provided [RCV003082779] Chr4:1841515 [GRCh38]
Chr4:1843242 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.646G>A (p.Val216Met) single nucleotide variant Inborn genetic diseases [RCV002698216] Chr4:1836521 [GRCh38]
Chr4:1838248 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1795G>T (p.Val599Leu) single nucleotide variant Inborn genetic diseases [RCV002699853] Chr4:1816863 [GRCh38]
Chr4:1818590 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2065G>A (p.Val689Ile) single nucleotide variant not provided [RCV002629227] Chr4:1815669 [GRCh38]
Chr4:1817396 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1182G>A (p.Leu394=) single nucleotide variant not provided [RCV002632444] Chr4:1825582 [GRCh38]
Chr4:1827309 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.351C>T (p.Asp117=) single nucleotide variant not provided [RCV003049403] Chr4:1841590 [GRCh38]
Chr4:1843317 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1273G>T (p.Asp425Tyr) single nucleotide variant not provided [RCV002806906] Chr4:1823703 [GRCh38]
Chr4:1825430 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.415C>G (p.Pro139Ala) single nucleotide variant not provided [RCV002715314] Chr4:1841526 [GRCh38]
Chr4:1843253 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1110G>C (p.Leu370=) single nucleotide variant not provided [RCV002599104] Chr4:1825654 [GRCh38]
Chr4:1827381 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1495C>T (p.Arg499Cys) single nucleotide variant Inborn genetic diseases [RCV002936711] Chr4:1822294 [GRCh38]
Chr4:1824021 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1590G>A (p.Pro530=) single nucleotide variant not provided [RCV003086370] Chr4:1822199 [GRCh38]
Chr4:1823926 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.588C>T (p.Arg196=) single nucleotide variant not provided [RCV003028134] Chr4:1841353 [GRCh38]
Chr4:1843080 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1216C>G (p.Leu406Val) single nucleotide variant not provided [RCV002922411] Chr4:1823760 [GRCh38]
Chr4:1825487 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.467G>A (p.Arg156Gln) single nucleotide variant not provided [RCV003063117] Chr4:1841474 [GRCh38]
Chr4:1843201 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1528G>A (p.Glu510Lys) single nucleotide variant Inborn genetic diseases [RCV004071964]|not provided [RCV003089673] Chr4:1822261 [GRCh38]
Chr4:1823988 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.228G>A (p.Arg76=) single nucleotide variant not provided [RCV002580936] Chr4:1841713 [GRCh38]
Chr4:1843440 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.732A>C (p.Ser244=) single nucleotide variant not provided [RCV002672033] Chr4:1836435 [GRCh38]
Chr4:1838162 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1744-18C>G single nucleotide variant not provided [RCV002721039] Chr4:1816932 [GRCh38]
Chr4:1818659 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.972G>A (p.Pro324=) single nucleotide variant not provided [RCV002598542] Chr4:1832852 [GRCh38]
Chr4:1834579 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1009T>A (p.Ser337Thr) single nucleotide variant not provided [RCV002675765] Chr4:1832815 [GRCh38]
Chr4:1834542 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1974G>A (p.Lys658=) single nucleotide variant not provided [RCV002630604] Chr4:1815760 [GRCh38]
Chr4:1817487 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1332+18C>T single nucleotide variant not provided [RCV002645887] Chr4:1823626 [GRCh38]
Chr4:1825353 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1332+5G>A single nucleotide variant not provided [RCV003067693] Chr4:1823639 [GRCh38]
Chr4:1825366 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.506G>A (p.Arg169His) single nucleotide variant not provided [RCV002582245] Chr4:1841435 [GRCh38]
Chr4:1843162 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1430A>G (p.Gln477Arg) single nucleotide variant not provided [RCV002605018] Chr4:1823034 [GRCh38]
Chr4:1824761 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.232G>A (p.Glu78Lys) single nucleotide variant not provided [RCV002658261] Chr4:1841709 [GRCh38]
Chr4:1843436 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.577C>T (p.Arg193Cys) single nucleotide variant not provided [RCV002634912] Chr4:1841364 [GRCh38]
Chr4:1843091 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1476+20C>T single nucleotide variant not provided [RCV002583190] Chr4:1822968 [GRCh38]
Chr4:1824695 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1950C>T (p.Val650=) single nucleotide variant not provided [RCV002582327] Chr4:1815784 [GRCh38]
Chr4:1817511 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1822T>C (p.Leu608=) single nucleotide variant not provided [RCV002634532] Chr4:1816836 [GRCh38]
Chr4:1818563 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.691C>G (p.Leu231Val) single nucleotide variant not provided [RCV002588813] Chr4:1836476 [GRCh38]
Chr4:1838203 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1931+20C>T single nucleotide variant not provided [RCV002585893] Chr4:1816707 [GRCh38]
Chr4:1818434 [GRCh37]
Chr4:4p16.3		 benign
NM_012318.3(LETM1):c.1421C>T (p.Ala474Val) single nucleotide variant not provided [RCV003073245] Chr4:1823043 [GRCh38]
Chr4:1824770 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1173A>G (p.Glu391=) single nucleotide variant not provided [RCV002606224] Chr4:1825591 [GRCh38]
Chr4:1827318 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1165G>A (p.Val389Ile) single nucleotide variant not provided [RCV002606283] Chr4:1825599 [GRCh38]
Chr4:1827326 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2203G>A (p.Ala735Thr) single nucleotide variant not provided [RCV002613243] Chr4:1814441 [GRCh38]
Chr4:1816168 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV003066779] Chr4:1841730 [GRCh38]
Chr4:1843457 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012318.3(LETM1):c.738+5G>A single nucleotide variant not provided [RCV003073163] Chr4:1836424 [GRCh38]
Chr4:1838151 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.2114G>A (p.Ser705Asn) single nucleotide variant Inborn genetic diseases [RCV003183482] Chr4:1814530 [GRCh38]
Chr4:1816257 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1406C>T (p.Thr469Met) single nucleotide variant Inborn genetic diseases [RCV003261305] Chr4:1823058 [GRCh38]
Chr4:1824785 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1 copy number loss not provided [RCV003485406] Chr4:68346..2681414 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1931+19G>A single nucleotide variant not provided [RCV003875075] Chr4:1816708 [GRCh38]
Chr4:1818435 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4 copy number gain not provided [RCV003485344] Chr4:1497034..2571696 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_012318.3(LETM1):c.1864T>C (p.Leu622=) single nucleotide variant not provided [RCV003434939] Chr4:1816794 [GRCh38]
Chr4:1818521 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe) single nucleotide variant not provided [RCV003443982] Chr4:1822184 [GRCh38]
Chr4:1823911 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.466C>T (p.Arg156Trp) single nucleotide variant not provided [RCV003439210] Chr4:1841475 [GRCh38]
Chr4:1843202 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.414C>G (p.Gly138=) single nucleotide variant not provided [RCV003712833] Chr4:1841527 [GRCh38]
Chr4:1843254 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1245C>T (p.Leu415=) single nucleotide variant not provided [RCV003826736] Chr4:1823731 [GRCh38]
Chr4:1825458 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1743+4G>A single nucleotide variant not specified [RCV003489607] Chr4:1819334 [GRCh38]
Chr4:1821061 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.920G>A (p.Arg307His) single nucleotide variant not specified [RCV003489608] Chr4:1832904 [GRCh38]
Chr4:1834631 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.118A>T (p.Ser40Cys) single nucleotide variant not provided [RCV003549322] Chr4:1849174 [GRCh38]
Chr4:1850901 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1134G>A (p.Ala378=) single nucleotide variant not provided [RCV003836322] Chr4:1825630 [GRCh38]
Chr4:1827357 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1623G>A (p.Thr541=) single nucleotide variant not provided [RCV003726434] Chr4:1819458 [GRCh38]
Chr4:1821185 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.525C>G (p.Thr175=) single nucleotide variant not provided [RCV003723465] Chr4:1841416 [GRCh38]
Chr4:1843143 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.876+11dup duplication not provided [RCV003810863] Chr4:1834833..1834834 [GRCh38]
Chr4:1836560..1836561 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.143+18A>C single nucleotide variant not provided [RCV003820092] Chr4:1849131 [GRCh38]
Chr4:1850858 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.1230C>A (p.Ile410=) single nucleotide variant not provided [RCV003711048] Chr4:1823746 [GRCh38]
Chr4:1825473 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.1962C>A (p.Ile654=) single nucleotide variant not provided [RCV003721676] Chr4:1815772 [GRCh38]
Chr4:1817499 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3 copy number gain not specified [RCV003986525] Chr4:769757..2009467 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_012318.3(LETM1):c.417G>A (p.Pro139=) single nucleotide variant not provided [RCV003733643] Chr4:1841524 [GRCh38]
Chr4:1843251 [GRCh37]
Chr4:4p16.3		 likely benign
NM_012318.3(LETM1):c.392A>G (p.Asn131Ser) single nucleotide variant not provided [RCV003847815] Chr4:1841549 [GRCh38]
Chr4:1843276 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.933A>G (p.Leu311=) single nucleotide variant not provided [RCV003728653] Chr4:1832891 [GRCh38]
Chr4:1834618 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_012318.3(LETM1):c.1764G>C (p.Lys588Asn) single nucleotide variant Inborn genetic diseases [RCV004412775] Chr4:1816894 [GRCh38]
Chr4:1818621 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1951G>C (p.Ala651Pro) single nucleotide variant Inborn genetic diseases [RCV004412776] Chr4:1815783 [GRCh38]
Chr4:1817510 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1966G>A (p.Ala656Thr) single nucleotide variant Inborn genetic diseases [RCV004412777] Chr4:1815768 [GRCh38]
Chr4:1817495 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.233A>G (p.Glu78Gly) single nucleotide variant Inborn genetic diseases [RCV004412778] Chr4:1841708 [GRCh38]
Chr4:1843435 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.335G>A (p.Arg112His) single nucleotide variant Inborn genetic diseases [RCV004412779] Chr4:1841606 [GRCh38]
Chr4:1843333 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(1941525_?)dup duplication not provided [RCV004580879] Chr4:1795662..1941525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.1529A>C (p.Glu510Ala) single nucleotide variant Inborn genetic diseases [RCV004633940] Chr4:1822260 [GRCh38]
Chr4:1823987 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)dup duplication not provided [RCV004580808] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_1795662)_(3495228_?)del deletion not provided [RCV004580832] Chr4:1795662..3495228 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_012318.3(LETM1):c.257C>A (p.Ala86Glu) single nucleotide variant Inborn genetic diseases [RCV004642363] Chr4:1841684 [GRCh38]
Chr4:1843411 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_012318.3(LETM1):c.565C>G (p.His189Asp) single nucleotide variant Inborn genetic diseases [RCV004642362] Chr4:1841376 [GRCh38]
Chr4:1843103 [GRCh37]
Chr4:4p16.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3144
Count of miRNA genes:1178
Interacting mature miRNAs:1512
Transcripts:ENST00000302787, ENST00000466175, ENST00000505551, ENST00000510940, ENST00000511977, ENST00000512189, ENST00000512669
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407057331GWAS706307_Hgamma-aminoisobutyric acid measurement QTL GWAS706307 (human)0.000003gamma-aminoisobutyric acid measurement418338191833820Human
407230922GWAS879898_Hbody height QTL GWAS879898 (human)2e-25body height (VT:0001253)body height (CMO:0000106)418530501853051Human

Markers in Region
RH41928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3741,813,304 - 1,813,510UniSTSGRCh37
Build 3641,783,102 - 1,783,308RGDNCBI36
Celera41,725,816 - 1,726,022RGD
Cytogenetic Map4p16.3UniSTS
HuRef41,756,174 - 1,756,380UniSTS
GeneMap99-GB4 RH Map423.9UniSTS
NCBI RH Map430.0UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
SHGC-24744  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.3UniSTS
HuRef41,757,685 - 1,757,787UniSTS
TNG Radiation Hybrid Map41059.0UniSTS
GeneMap99-GB4 RH Map424.01UniSTS
Whitehead-RH Map415.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2248 4964 1724 2349 5 622 1950 465 2269 7293 6460 52 3728 848 1738 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF061025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302787   ⟹   ENSP00000305653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,811,479 - 1,856,156 (-)Ensembl
Ensembl Acc Id: ENST00000466175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,834,100 - 1,855,955 (-)Ensembl
Ensembl Acc Id: ENST00000505551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,833,074 - 1,843,211 (-)Ensembl
Ensembl Acc Id: ENST00000510940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,819,372 - 1,822,642 (-)Ensembl
Ensembl Acc Id: ENST00000511977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,822,774 - 1,832,879 (-)Ensembl
Ensembl Acc Id: ENST00000512189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,846,474 - 1,855,971 (-)Ensembl
Ensembl Acc Id: ENST00000512669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl41,834,206 - 1,839,342 (-)Ensembl
RefSeq Acc Id: NM_012318   ⟹   NP_036450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,811,479 - 1,856,156 (-)NCBI
GRCh3741,813,206 - 1,857,974 (-)ENTREZGENE
Build 3641,784,558 - 1,827,772 (-)NCBI Archive
HuRef41,756,076 - 1,799,634 (-)ENTREZGENE
CHM1_141,811,156 - 1,856,557 (-)NCBI
T2T-CHM13v2.041,809,954 - 1,854,630 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713884   ⟹   XP_006713947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,811,479 - 1,856,156 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415673   ⟹   XP_047271629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,811,479 - 1,844,910 (-)NCBI
RefSeq Acc Id: XM_054349978   ⟹   XP_054205953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,809,954 - 1,854,630 (-)NCBI
RefSeq Acc Id: XM_054349979   ⟹   XP_054205954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,809,954 - 1,843,381 (-)NCBI
RefSeq Acc Id: XM_054349980   ⟹   XP_054205955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.041,809,954 - 1,843,383 (-)NCBI
RefSeq Acc Id: NP_036450   ⟸   NM_012318
- Peptide Label: precursor
- UniProtKB: B4DED2 (UniProtKB/Swiss-Prot),   Q9UF65 (UniProtKB/Swiss-Prot),   O95202 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713947   ⟸   XM_006713884
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000305653   ⟸   ENST00000302787
RefSeq Acc Id: XP_047271629   ⟸   XM_047415673
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205953   ⟸   XM_054349978
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205955   ⟸   XM_054349980
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205954   ⟸   XM_054349979
- Peptide Label: isoform X3
Protein Domains
EF-hand   Letm1 RBD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95202-F1-model_v2 AlphaFold O95202 1-739 view protein structure

Promoters
RGD ID:6802424
Promoter ID:HG_KWN:47680
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003GDW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,814,361 - 1,814,861 (-)MPROMDB
RGD ID:6802423
Promoter ID:HG_KWN:47681
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012318
Position:
Human AssemblyChrPosition (strand)Source
Build 3641,827,679 - 1,828,179 (-)MPROMDB
RGD ID:6866850
Promoter ID:EPDNEW_H6590
Type:initiation region
Name:LETM1_1
Description:leucine zipper and EF-hand containing transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6591  EPDNEW_H6593  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,856,151 - 1,856,211EPDNEW
RGD ID:6866852
Promoter ID:EPDNEW_H6591
Type:initiation region
Name:LETM1_2
Description:leucine zipper and EF-hand containing transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6590  EPDNEW_H6593  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,856,359 - 1,856,419EPDNEW
RGD ID:6866856
Promoter ID:EPDNEW_H6593
Type:initiation region
Name:LETM1_3
Description:leucine zipper and EF-hand containing transmembrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6590  EPDNEW_H6591  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3841,857,130 - 1,857,190EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6556 AgrOrtholog
COSMIC LETM1 COSMIC
Ensembl Genes ENSG00000168924 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302787 ENTREZGENE
  ENST00000302787.3 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000168924 GTEx
HGNC ID HGNC:6556 ENTREZGENE
Human Proteome Map LETM1 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  LETM1/MDM38-like UniProtKB/Swiss-Prot
  LETM1_RBD UniProtKB/Swiss-Prot
KEGG Report hsa:3954 UniProtKB/Swiss-Prot
NCBI Gene 3954 ENTREZGENE
OMIM 604407 OMIM
PANTHER MITOCHONDRIAL PROTON/CALCIUM EXCHANGER PROTEIN UniProtKB/Swiss-Prot
  PTHR14009 UniProtKB/Swiss-Prot
Pfam LETM1 UniProtKB/Swiss-Prot
PharmGKB PA30335 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
  LETM1_RBD UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
UniProt B4DED2 ENTREZGENE
  LETM1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UF65 ENTREZGENE
UniProt Secondary B4DED2 UniProtKB/Swiss-Prot
  Q9UF65 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-07 LETM1  leucine zipper and EF-hand containing transmembrane protein 1    leucine zipper-EF-hand containing transmembrane protein 1  Symbol and/or name change 5135510 APPROVED