ELP1 (elongator acetyltransferase complex subunit 1) - Rat Genome Database

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Gene: ELP1 (elongator acetyltransferase complex subunit 1) Homo sapiens
Analyze
Symbol: ELP1
Name: elongator acetyltransferase complex subunit 1
RGD ID: 734035
HGNC Page HGNC
Description: Enables protein self-association. Predicted to be involved in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation. Located in cytosol. Part of elongator holoenzyme complex. Implicated in Riley-Day syndrome; asthma; medulloblastoma; and scoliosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781H1425; DYS; elongator complex protein 1; FD; FLJ12497; IKAP; ikappaB kinase complex-associated protein; IKBKAP; IKI3; IKK complex-associated protein; inhibitor of kappa light polypeptide enhancer in b-cells, kinase complex-associated protein; p150; TOT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389108,867,517 - 108,934,124 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9108,866,898 - 108,934,328 (-)EnsemblGRCh38hg38GRCh38
GRCh379111,629,797 - 111,696,404 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369110,669,621 - 110,736,217 (-)NCBINCBI36hg18NCBI36
Build 349108,709,355 - 108,775,951NCBI
Celera982,129,095 - 82,195,809 (-)NCBI
Cytogenetic Map9q31.3NCBI
HuRef981,229,552 - 81,296,258 (-)NCBIHuRef
CHM1_19111,776,416 - 111,843,122 (-)NCBICHM1_1
T2T-CHM13v2.09121,036,644 - 121,103,197 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA)
elongator holoenzyme complex  (IBA,IDA,IEA,IPI)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pleura morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal renal physiology  (IAGP)
Abnormality of the peritoneum  (IAGP)
Acrocyanosis  (IAGP)
Alacrima  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Behavioral abnormality  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Corneal erosion  (IAGP)
Corneal opacity  (IAGP)
Corneal ulceration  (IAGP)
Decreased corneal reflex  (IAGP)
Decreased number of large peripheral myelinated nerve fibers  (IAGP)
Decreased sensitivity to hypoxemia  (IAGP)
Diarrhea  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
EMG abnormality  (IAGP)
Emotional lability  (IAGP)
Episodic hyperhidrosis  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Glomerular sclerosis  (IAGP)
Glomerulopathy  (IAGP)
Growth delay  (IAGP)
Heterochromia iridis  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Hypogeusia  (IAGP)
Hypohidrosis  (IAGP)
Hyponatremia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Incomplete penetrance  (IAGP)
Incoordination  (IAGP)
Increased blood urea nitrogen  (IAGP)
Malignant hyperthermia  (IAGP)
Medulloblastoma  (IAGP)
Myopia  (IAGP)
Neuropathic arthropathy  (IAGP)
Optic atrophy  (IAGP)
Orthostatic hypotension  (IAGP)
Osteolysis  (IAGP)
Peripheral neuropathy  (IAGP)
Progressive  (IAGP)
Recurrent corneal erosions  (IAGP)
Recurrent fever  (IAGP)
Recurrent fractures  (IAGP)
Recurrent infections due to aspiration  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Somatic mutation  (IAGP)
Tachycardia  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:8102296   PMID:8125298   PMID:9751059   PMID:10094049   PMID:11714725   PMID:11747609   PMID:11818576   PMID:12058026   PMID:12102458   PMID:12116234   PMID:12477932   PMID:12577200  
PMID:14667819   PMID:14702039   PMID:14743216   PMID:15342556   PMID:15383276   PMID:16169070   PMID:16344560   PMID:16713582   PMID:16964593   PMID:17137217   PMID:17206408   PMID:17314511  
PMID:17591626   PMID:17644305   PMID:17703412   PMID:18091349   PMID:18264947   PMID:18303054   PMID:18434448   PMID:19015235   PMID:19185337   PMID:19247692   PMID:19258923   PMID:19262425  
PMID:19380743   PMID:19490893   PMID:19651702   PMID:19834596   PMID:19913121   PMID:20098615   PMID:20301359   PMID:20301612   PMID:20361209   PMID:20467437   PMID:20503287   PMID:20628086  
PMID:20671422   PMID:21098405   PMID:21145461   PMID:21209961   PMID:21273291   PMID:21559466   PMID:21873635   PMID:21900206   PMID:21903422   PMID:22384137   PMID:22495984   PMID:22586326  
PMID:22678362   PMID:22854966   PMID:22863883   PMID:22939629   PMID:23275444   PMID:23414517   PMID:23463506   PMID:23515154   PMID:23711097   PMID:24255178   PMID:24268683   PMID:24711643  
PMID:24778252   PMID:24797263   PMID:24981860   PMID:25921289   PMID:25960406   PMID:26186194   PMID:26261306   PMID:26344197   PMID:26437462   PMID:26752685   PMID:26972000   PMID:27320910  
PMID:27432908   PMID:27483351   PMID:27545878   PMID:27847465   PMID:27880917   PMID:28330616   PMID:28481362   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28675297   PMID:29053956  
PMID:29117863   PMID:29121065   PMID:29229926   PMID:29289840   PMID:29467282   PMID:29507755   PMID:29564676   PMID:29568061   PMID:29701768   PMID:29762696   PMID:29795372   PMID:29955894  
PMID:29991511   PMID:30085848   PMID:30196744   PMID:30833792   PMID:30905397   PMID:30948266   PMID:30989732   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31298480   PMID:31586073  
PMID:32239614   PMID:32249768   PMID:32296180   PMID:32528060   PMID:32877691   PMID:32912968   PMID:33462405   PMID:33658012   PMID:33729478   PMID:33742100   PMID:33853758   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34244565   PMID:34315543   PMID:34373451   PMID:35271311  


Genomics

Comparative Map Data
ELP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389108,867,517 - 108,934,124 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9108,866,898 - 108,934,328 (-)EnsemblGRCh38hg38GRCh38
GRCh379111,629,797 - 111,696,404 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369110,669,621 - 110,736,217 (-)NCBINCBI36hg18NCBI36
Build 349108,709,355 - 108,775,951NCBI
Celera982,129,095 - 82,195,809 (-)NCBI
Cytogenetic Map9q31.3NCBI
HuRef981,229,552 - 81,296,258 (-)NCBIHuRef
CHM1_19111,776,416 - 111,843,122 (-)NCBICHM1_1
T2T-CHM13v2.09121,036,644 - 121,103,197 (-)NCBI
Elp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39456,746,547 - 56,802,565 (-)NCBIGRCm39mm39
GRCm39 Ensembl456,749,680 - 56,802,331 (-)Ensembl
GRCm38456,746,547 - 56,802,569 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl456,749,680 - 56,802,331 (-)EnsemblGRCm38mm10GRCm38
MGSCv37456,762,552 - 56,815,203 (-)NCBIGRCm37mm9NCBIm37
MGSCv36456,844,828 - 56,896,313 (-)NCBImm8
Celera456,657,583 - 56,710,224 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map431.66NCBI
Elp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2571,453,338 - 71,505,833 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl571,456,310 - 71,505,762 (-)Ensembl
Rnor_6.0573,503,406 - 73,552,798 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl573,503,407 - 73,552,798 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0577,661,315 - 77,710,707 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4574,657,287 - 74,707,435 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1574,662,400 - 74,712,548 (-)NCBI
Celera570,310,353 - 70,359,709 (-)NCBICelera
Cytogenetic Map5q24NCBI
Elp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541918,038,507 - 18,095,894 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541918,035,197 - 18,097,681 (+)NCBIChiLan1.0ChiLan1.0
ELP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19108,194,008 - 108,258,500 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9108,194,011 - 108,258,500 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0980,020,131 - 80,085,076 (-)NCBIMhudiblu_PPA_v0panPan3
ELP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11164,035,667 - 64,094,402 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1164,037,506 - 64,093,819 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1162,437,897 - 62,496,433 (-)NCBI
ROS_Cfam_1.01165,169,787 - 65,228,593 (-)NCBI
ROS_Cfam_1.0 Ensembl1165,170,724 - 65,228,543 (-)Ensembl
UMICH_Zoey_3.11163,690,982 - 63,749,074 (-)NCBI
UNSW_CanFamBas_1.01163,709,775 - 63,768,691 (-)NCBI
UU_Cfam_GSD_1.01164,402,753 - 64,461,318 (-)NCBI
Elp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947179,284,678 - 179,342,148 (-)NCBI
SpeTri2.0NW_0049365593,924,185 - 3,981,907 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,905,472 - 249,981,641 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,905,550 - 249,980,570 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21280,435,992 - 280,511,016 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11230,620,685 - 30,687,583 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1230,620,278 - 30,687,405 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603511,996,706 - 12,063,562 (-)NCBIVero_WHO_p1.0
Elp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247582,575,671 - 2,646,313 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247582,575,516 - 2,646,313 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D9S1055E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,659,441 - 111,659,549UniSTSGRCh37
Build 369110,699,262 - 110,699,370RGDNCBI36
Celera982,158,737 - 82,158,845RGD
Cytogenetic Map9q31UniSTS
HuRef981,259,185 - 81,259,293UniSTS
D9S1646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,629,822 - 111,629,937UniSTSGRCh37
Build 369110,669,643 - 110,669,758RGDNCBI36
Celera982,129,117 - 82,129,232RGD
Cytogenetic Map9q31UniSTS
HuRef981,229,574 - 81,229,689UniSTS
SHGC-111681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,643,658 - 111,643,960UniSTSGRCh37
Build 369110,683,479 - 110,683,781RGDNCBI36
Celera982,142,954 - 82,143,256RGD
Cytogenetic Map9q31UniSTS
HuRef981,243,402 - 81,243,704UniSTS
TNG Radiation Hybrid Map941383.0UniSTS
SHGC-77920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,689,260 - 111,689,587UniSTSGRCh37
Build 369110,729,081 - 110,729,408RGDNCBI36
Celera982,188,462 - 82,188,789RGD
Cytogenetic Map9q31UniSTS
HuRef981,288,911 - 81,289,238UniSTS
TNG Radiation Hybrid Map941433.0UniSTS
IKBKAP_749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,629,788 - 111,630,478UniSTSGRCh37
Build 369110,669,609 - 110,670,299RGDNCBI36
Celera982,129,083 - 82,129,773RGD
HuRef981,229,540 - 81,230,230UniSTS
WI-14914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,633,300 - 111,633,401UniSTSGRCh37
Build 369110,673,121 - 110,673,222RGDNCBI36
Celera982,132,596 - 82,132,697RGD
Cytogenetic Map9q31UniSTS
HuRef981,233,050 - 81,233,151UniSTS
GeneMap99-GB4 RH Map9347.47UniSTS
Whitehead-RH Map9413.1UniSTS
STS-N27516  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera982,129,259 - 82,129,438RGD
Cytogenetic Map9q31UniSTS
HuRef981,229,716 - 81,229,895UniSTS
GeneMap99-GB4 RH Map9350.7UniSTS
D9S2068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,630,460 - 111,630,607UniSTSGRCh37
Build 369110,670,281 - 110,670,428RGDNCBI36
Celera982,129,755 - 82,129,902RGD
Cytogenetic Map9q31UniSTS
HuRef981,230,212 - 81,230,359UniSTS
TNG Radiation Hybrid Map941408.0UniSTS
Stanford-G3 RH Map93697.0UniSTS
GeneMap99-G3 RH Map93595.0UniSTS
WI-16073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379111,630,941 - 111,631,075UniSTSGRCh37
Build 369110,670,762 - 110,670,896RGDNCBI36
Celera982,130,236 - 82,130,370RGD
Cytogenetic Map9q31UniSTS
HuRef981,230,693 - 81,230,827UniSTS
GeneMap99-GB4 RH Map9350.7UniSTS
Whitehead-RH Map9414.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2000
Count of miRNA genes:601
Interacting mature miRNAs:675
Transcripts:ENST00000374647, ENST00000467959, ENST00000495759, ENST00000537196
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2350 1939 1579 478 1218 326 3878 1515 2993 315 1429 1596 165 1170 2327 4
Low 85 1043 147 144 724 138 478 681 739 104 28 15 7 34 461 2
Below cutoff 2 7 1 9 1 2 3 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF044195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI219443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF968300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP201910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX760218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA400136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA504555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA737592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR157355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374647   ⟹   ENSP00000363779
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,517 - 108,934,124 (-)Ensembl
RefSeq Acc Id: ENST00000467959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,879,461 - 108,889,684 (-)Ensembl
RefSeq Acc Id: ENST00000495759   ⟹   ENSP00000433514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000537196   ⟹   ENSP00000439367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,641 - 108,933,953 (-)Ensembl
RefSeq Acc Id: ENST00000674535   ⟹   ENSP00000502142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,550 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000674704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,124 (-)Ensembl
RefSeq Acc Id: ENST00000674740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,866,898 - 108,885,872 (-)Ensembl
RefSeq Acc Id: ENST00000674836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000674890   ⟹   ENSP00000501870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000674938   ⟹   ENSP00000502427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,122 (-)Ensembl
RefSeq Acc Id: ENST00000674948   ⟹   ENSP00000501602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,328 (-)Ensembl
RefSeq Acc Id: ENST00000675052   ⟹   ENSP00000502664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,446 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,876,898 - 108,880,557 (-)Ensembl
RefSeq Acc Id: ENST00000675078   ⟹   ENSP00000501549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,517 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675215   ⟹   ENSP00000502558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,115 (-)Ensembl
RefSeq Acc Id: ENST00000675233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,671 - 108,876,701 (-)Ensembl
RefSeq Acc Id: ENST00000675321   ⟹   ENSP00000502751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,869,115 - 108,931,146 (-)Ensembl
RefSeq Acc Id: ENST00000675325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675335   ⟹   ENSP00000502182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,869,115 - 108,931,146 (-)Ensembl
RefSeq Acc Id: ENST00000675370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,876,987 - 108,878,988 (-)Ensembl
RefSeq Acc Id: ENST00000675400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,135 (-)Ensembl
RefSeq Acc Id: ENST00000675406   ⟹   ENSP00000501893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675458   ⟹   ENSP00000501754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,869,115 - 108,931,146 (-)Ensembl
RefSeq Acc Id: ENST00000675507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,721 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675535   ⟹   ENSP00000501667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,651 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,882,562 (-)Ensembl
RefSeq Acc Id: ENST00000675602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,116 (-)Ensembl
RefSeq Acc Id: ENST00000675647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675711   ⟹   ENSP00000502485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,869,115 - 108,931,146 (-)Ensembl
RefSeq Acc Id: ENST00000675727   ⟹   ENSP00000501722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,869,031 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,096 (-)Ensembl
RefSeq Acc Id: ENST00000675765   ⟹   ENSP00000502640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,516 - 108,934,122 (-)Ensembl
RefSeq Acc Id: ENST00000675825   ⟹   ENSP00000502632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675893   ⟹   ENSP00000502001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,920,316 - 108,934,144 (-)Ensembl
RefSeq Acc Id: ENST00000675943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000675979   ⟹   ENSP00000502208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000676044   ⟹   ENSP00000502378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000676086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000676121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,145 (-)Ensembl
RefSeq Acc Id: ENST00000676162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,868,173 - 108,881,018 (-)Ensembl
RefSeq Acc Id: ENST00000676237   ⟹   ENSP00000501828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000676416   ⟹   ENSP00000501660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,933,943 (-)Ensembl
RefSeq Acc Id: ENST00000676424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,540 - 108,934,113 (-)Ensembl
RefSeq Acc Id: ENST00000676429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9108,867,538 - 108,934,124 (-)Ensembl
RefSeq Acc Id: NM_001318360   ⟹   NP_001305289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,867,517 - 108,934,124 (-)NCBI
CHM1_19111,776,416 - 111,843,126 (-)NCBI
T2T-CHM13v2.09121,036,644 - 121,103,197 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330749   ⟹   NP_001317678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,867,517 - 108,934,124 (-)NCBI
T2T-CHM13v2.09121,036,644 - 121,103,197 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003640   ⟹   NP_003631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,867,517 - 108,934,124 (-)NCBI
GRCh379111,629,800 - 111,696,608 (-)ENTREZGENE
GRCh379111,629,800 - 111,696,608 (-)NCBI
Build 369110,669,621 - 110,736,217 (-)NCBI Archive
HuRef981,229,552 - 81,296,258 (-)ENTREZGENE
CHM1_19111,776,416 - 111,843,126 (-)NCBI
T2T-CHM13v2.09121,036,644 - 121,103,197 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423991   ⟹   XP_047279947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,896,512 - 108,934,124 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_003631   ⟸   NM_003640
- Peptide Label: isoform 1
- UniProtKB: O95163 (UniProtKB/Swiss-Prot),   Q4LE38 (UniProtKB/TrEMBL),   Q8N516 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305289   ⟸   NM_001318360
- Peptide Label: isoform 2
- UniProtKB: O95163 (UniProtKB/Swiss-Prot),   B4E3I9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317678   ⟸   NM_001330749
- Peptide Label: isoform 3
- UniProtKB: B3KNB2 (UniProtKB/TrEMBL),   F5H2T0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000363779   ⟸   ENST00000374647
RefSeq Acc Id: ENSP00000433514   ⟸   ENST00000495759
RefSeq Acc Id: ENSP00000439367   ⟸   ENST00000537196
RefSeq Acc Id: ENSP00000501602   ⟸   ENST00000674948
RefSeq Acc Id: ENSP00000502427   ⟸   ENST00000674938
RefSeq Acc Id: ENSP00000501870   ⟸   ENST00000674890
RefSeq Acc Id: ENSP00000502142   ⟸   ENST00000674535
RefSeq Acc Id: ENSP00000502632   ⟸   ENST00000675825
RefSeq Acc Id: ENSP00000502640   ⟸   ENST00000675765
RefSeq Acc Id: ENSP00000502485   ⟸   ENST00000675711
RefSeq Acc Id: ENSP00000501722   ⟸   ENST00000675727
RefSeq Acc Id: ENSP00000501667   ⟸   ENST00000675535
RefSeq Acc Id: ENSP00000501754   ⟸   ENST00000675458
RefSeq Acc Id: ENSP00000501893   ⟸   ENST00000675406
RefSeq Acc Id: ENSP00000502208   ⟸   ENST00000675979
RefSeq Acc Id: ENSP00000502001   ⟸   ENST00000675893
RefSeq Acc Id: ENSP00000502182   ⟸   ENST00000675335
RefSeq Acc Id: ENSP00000502751   ⟸   ENST00000675321
RefSeq Acc Id: ENSP00000502558   ⟸   ENST00000675215
RefSeq Acc Id: ENSP00000501549   ⟸   ENST00000675078
RefSeq Acc Id: ENSP00000502664   ⟸   ENST00000675052
RefSeq Acc Id: ENSP00000501828   ⟸   ENST00000676237
RefSeq Acc Id: ENSP00000502378   ⟸   ENST00000676044
RefSeq Acc Id: ENSP00000501660   ⟸   ENST00000676416
RefSeq Acc Id: XP_047279947   ⟸   XM_047423991
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95163-F1-model_v2 AlphaFold O95163 1-1332 view protein structure

Promoters
RGD ID:7215777
Promoter ID:EPDNEW_H13635
Type:initiation region
Name:IKBKAP_2
Description:inhibitor of kappa light polypeptide gene enhancer in B-cells,kinase complex-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13637  EPDNEW_H13639  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,933,951 - 108,934,011EPDNEW
RGD ID:7215781
Promoter ID:EPDNEW_H13637
Type:initiation region
Name:IKBKAP_1
Description:inhibitor of kappa light polypeptide gene enhancer in B-cells,kinase complex-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13635  EPDNEW_H13639  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,934,087 - 108,934,147EPDNEW
RGD ID:7215785
Promoter ID:EPDNEW_H13639
Type:initiation region
Name:IKBKAP_3
Description:inhibitor of kappa light polypeptide gene enhancer in B-cells,kinase complex-associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13635  EPDNEW_H13637  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389108,934,385 - 108,934,445EPDNEW
RGD ID:6807785
Promoter ID:HG_KWN:64452
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:OTTHUMT00000053574,   UC010MTQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369110,735,899 - 110,736,399 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) single nucleotide variant Familial dysautonomia [RCV000542595]|not provided [RCV001508264] Chr9:108922874 [GRCh38]
Chr9:111685154 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.536C>G (p.Ala179Gly) single nucleotide variant Familial dysautonomia [RCV000552955] Chr9:108922858 [GRCh38]
Chr9:111685138 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp) single nucleotide variant Familial dysautonomia [RCV000544785]|not provided [RCV001342070] Chr9:108931125 [GRCh38]
Chr9:111693405 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.650-7C>T single nucleotide variant Familial dysautonomia [RCV001271217]|not provided [RCV000545687]|not specified [RCV000606056] Chr9:108918908 [GRCh38]
Chr9:111681188 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.2052T>A (p.His684Gln) single nucleotide variant Familial dysautonomia [RCV000554301]|not provided [RCV001201383] Chr9:108900338 [GRCh38]
Chr9:111662618 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3855+9T>G single nucleotide variant Familial dysautonomia [RCV001829559]|not provided [RCV000532311] Chr9:108877986 [GRCh38]
Chr9:111640266 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2860+8dup duplication not provided [RCV001494930] Chr9:108893934..108893935 [GRCh38]
Chr9:111656214..111656215 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1251A>G (p.Gln417=) single nucleotide variant Familial dysautonomia [RCV000526030]|not provided [RCV001696930] Chr9:108911119 [GRCh38]
Chr9:111673399 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1224G>A (p.Val408=) single nucleotide variant not provided [RCV000552158] Chr9:108911146 [GRCh38]
Chr9:111673426 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3015G>A (p.Ala1005=) single nucleotide variant not provided [RCV000550068] Chr9:108891348 [GRCh38]
Chr9:111653628 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2034C>T (p.Ser678=) single nucleotide variant not provided [RCV001495060] Chr9:108900356 [GRCh38]
Chr9:111662636 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.650-6G>A single nucleotide variant Familial dysautonomia [RCV001271216]|not provided [RCV000530797] Chr9:108918907 [GRCh38]
Chr9:111681187 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg) single nucleotide variant Familial dysautonomia [RCV000553861]|not provided [RCV001308313] Chr9:108878083 [GRCh38]
Chr9:111640363 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2204+6T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000789357]|Familial dysautonomia [RCV000006458]|not provided [RCV000058928] Chr9:108899816 [GRCh38]
Chr9:111662096 [GRCh37]
Chr9:9q31.3
pathogenic|uncertain significance|not provided
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789660]|Familial dysautonomia [RCV000006459]|not provided [RCV001380395] Chr9:108900303 [GRCh38]
Chr9:111662583 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) single nucleotide variant Charcot-Marie-Tooth disease [RCV000789661]|Familial dysautonomia [RCV000006460] Chr9:108894062 [GRCh38]
Chr9:111656342 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.1542C>T (p.Phe514=) single nucleotide variant Familial dysautonomia [RCV000667607]|not provided [RCV002054918] Chr9:108906404 [GRCh38]
Chr9:111668684 [GRCh37]
Chr9:110708505 [NCBI36]
Chr9:9q31.3
likely benign|not provided
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) single nucleotide variant Familial dysautonomia [RCV000353935]|not provided [RCV000857369]|not specified [RCV000125396] Chr9:108917660 [GRCh38]
Chr9:111679940 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.819C>T (p.Leu273=) single nucleotide variant Familial dysautonomia [RCV000320131]|not provided [RCV000860431]|not specified [RCV000125397] Chr9:108917592 [GRCh38]
Chr9:111679872 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) single nucleotide variant Familial dysautonomia [RCV000359268]|not provided [RCV000857368]|not specified [RCV000125398] Chr9:108916228 [GRCh38]
Chr9:111678508 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.959-15C>T single nucleotide variant Familial dysautonomia [RCV000404937]|not provided [RCV002055569]|not specified [RCV000125399] Chr9:108912509 [GRCh38]
Chr9:111674789 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) single nucleotide variant Familial dysautonomia [RCV000308481]|not provided [RCV000857535]|not specified [RCV000125400] Chr9:108911140 [GRCh38]
Chr9:111673420 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) single nucleotide variant Familial dysautonomia [RCV000347949]|not provided [RCV000860540]|not specified [RCV000125401] Chr9:108906372 [GRCh38]
Chr9:111668652 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) single nucleotide variant Familial dysautonomia [RCV000375132]|not provided [RCV000860410]|not specified [RCV000125402] Chr9:108901513 [GRCh38]
Chr9:111663793 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) single nucleotide variant Familial dysautonomia [RCV000318083]|not provided [RCV000860409]|not specified [RCV000125403] Chr9:108901474 [GRCh38]
Chr9:111663754 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) single nucleotide variant Familial dysautonomia [RCV000376411]|not provided [RCV000860346]|not specified [RCV000176295] Chr9:108898571 [GRCh38]
Chr9:111660851 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) single nucleotide variant Familial dysautonomia [RCV000266693]|not provided [RCV000860345]|not specified [RCV000125405] Chr9:108897203 [GRCh38]
Chr9:111659483 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) single nucleotide variant Familial dysautonomia [RCV000363674]|not provided [RCV000860430]|not specified [RCV000125406] Chr9:108897159 [GRCh38]
Chr9:111659439 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2587+14C>T single nucleotide variant Familial dysautonomia [RCV000365036]|not provided [RCV002055570]|not specified [RCV000125407] Chr9:108896939 [GRCh38]
Chr9:111659219 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.189C>T (p.Leu63=) single nucleotide variant Familial dysautonomia [RCV000392423]|not provided [RCV000857370]|not specified [RCV000125408] Chr9:108929883 [GRCh38]
Chr9:111692163 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3285+9C>T single nucleotide variant Familial dysautonomia [RCV000286410]|not provided [RCV000860429]|not specified [RCV000125409] Chr9:108882116 [GRCh38]
Chr9:111644396 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.441G>A (p.Gln147=) single nucleotide variant Familial dysautonomia [RCV000389684]|not provided [RCV000860289]|not specified [RCV000125410] Chr9:108926548 [GRCh38]
Chr9:111688828 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.-71G>C single nucleotide variant Familial dysautonomia [RCV000392418]|not specified [RCV000125411] Chr9:108933879 [GRCh38]
Chr9:111696159 [GRCh37]
Chr9:9q31.3
benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32
pathogenic
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) single nucleotide variant Familial dysautonomia [RCV001832001]|not provided [RCV000175047] Chr9:108902879 [GRCh38]
Chr9:111665159 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) single nucleotide variant Familial dysautonomia [RCV000316773]|not provided [RCV000724344]|not specified [RCV000214808] Chr9:108901650 [GRCh38]
Chr9:111663930 [GRCh37]
Chr9:9q31.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3
pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.2737-10A>C single nucleotide variant not provided [RCV001494044] Chr9:108894076 [GRCh38]
Chr9:111656356 [GRCh37]
Chr9:9q31.3
likely benign
GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3 copy number gain See cases [RCV000449057] Chr9:111529810..113539990 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) single nucleotide variant not provided [RCV000548552] Chr9:108880095 [GRCh38]
Chr9:111642375 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3346+1G>A single nucleotide variant Familial dysautonomia [RCV000669335]|not provided [RCV001056423] Chr9:108881704 [GRCh38]
Chr9:111643984 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu) single nucleotide variant Familial dysautonomia [RCV000798294]|not provided [RCV000229285] Chr9:108892996 [GRCh38]
Chr9:111655276 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) single nucleotide variant Familial dysautonomia [RCV001166669]|not provided [RCV000757401] Chr9:108893978 [GRCh38]
Chr9:111656258 [GRCh37]
Chr9:9q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.470A>G (p.Lys157Arg) single nucleotide variant Familial dysautonomia [RCV001833248]|not provided [RCV000230652] Chr9:108922924 [GRCh38]
Chr9:111685204 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val) single nucleotide variant Familial dysautonomia [RCV001828118]|not provided [RCV000231324] Chr9:108878120 [GRCh38]
Chr9:111640400 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) single nucleotide variant Familial dysautonomia [RCV001166178]|not provided [RCV000659118] Chr9:108882130 [GRCh38]
Chr9:111644410 [GRCh37]
Chr9:9q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) single nucleotide variant Familial dysautonomia [RCV001274631]|not provided [RCV000727251] Chr9:108912309 [GRCh38]
Chr9:111674589 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) single nucleotide variant Familial dysautonomia [RCV001276239]|not provided [RCV000227222] Chr9:108908401 [GRCh38]
Chr9:111670681 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg) single nucleotide variant Familial dysautonomia [RCV001276235]|not provided [RCV000235240] Chr9:108903583 [GRCh38]
Chr9:111665863 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.56G>A (p.Gly19Glu) single nucleotide variant Familial dysautonomia [RCV001828121]|not provided [RCV000235303] Chr9:108931091 [GRCh38]
Chr9:111693371 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.359A>G (p.Asp120Gly) single nucleotide variant Familial dysautonomia [RCV001276641]|not provided [RCV000235530] Chr9:108927398 [GRCh38]
Chr9:111689678 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu) single nucleotide variant Familial dysautonomia [RCV001276640]|not provided [RCV000235685] Chr9:108927397 [GRCh38]
Chr9:111689677 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val) single nucleotide variant Familial dysautonomia [RCV001275746]|not provided [RCV000235922] Chr9:108891349 [GRCh38]
Chr9:111653629 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp) single nucleotide variant Familial dysautonomia [RCV001276230]|not provided [RCV000236057] Chr9:108900325 [GRCh38]
Chr9:111662605 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2506T>A (p.Cys836Ser) single nucleotide variant Familial dysautonomia [RCV000306698]|not provided [RCV000236473] Chr9:108897034 [GRCh38]
Chr9:111659314 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln) single nucleotide variant Familial dysautonomia [RCV000816537]|not provided [RCV000236785] Chr9:108931067 [GRCh38]
Chr9:111693347 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) single nucleotide variant Familial dysautonomia [RCV000272652]|not provided [RCV000514111]|not specified [RCV000236972] Chr9:108896997 [GRCh38]
Chr9:111659277 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3622_3624del (p.Lys1208del) deletion Familial dysautonomia [RCV000669752] Chr9:108878699..108878701 [GRCh38]
Chr9:111640979..111640981 [GRCh37]
Chr9:9q31.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.4(ELP1):c.2370_2372del (p.Glu790del) microsatellite Familial dysautonomia [RCV000669186] Chr9:108897277..108897279 [GRCh38]
Chr9:111659556..111659559 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.150+1G>A single nucleotide variant Familial dysautonomia [RCV000669523] Chr9:108930996 [GRCh38]
Chr9:111693276 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) single nucleotide variant Familial dysautonomia [RCV000407382]|not provided [RCV000857492]|not specified [RCV000254080] Chr9:108891326 [GRCh38]
Chr9:111653606 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003640.5(ELP1):c.741-15dup duplication Familial dysautonomia [RCV000261331]|not provided [RCV001683037]|not specified [RCV000246897] Chr9:108917684..108917685 [GRCh38]
Chr9:111679964..111679965 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) single nucleotide variant Familial dysautonomia [RCV000465354]|not provided [RCV000857357]|not specified [RCV000249304] Chr9:108893948 [GRCh38]
Chr9:111656228 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) single nucleotide variant Familial dysautonomia [RCV000332913]|not provided [RCV000857493]|not specified [RCV000242076] Chr9:108922849 [GRCh38]
Chr9:111685129 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003640.5(ELP1):c.3931+151A>T single nucleotide variant not provided [RCV001564071] Chr9:108874744 [GRCh38]
Chr9:111637024 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) single nucleotide variant Familial dysautonomia [RCV000268649]|not provided [RCV000860288]|not specified [RCV000245565] Chr9:108879545 [GRCh38]
Chr9:111641825 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.948G>A (p.Pro316=) single nucleotide variant Familial dysautonomia [RCV001168466]|not provided [RCV000529925] Chr9:108916214 [GRCh38]
Chr9:111678494 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) single nucleotide variant Familial dysautonomia [RCV000280679]|not provided [RCV000589688]|not specified [RCV000250637] Chr9:108889340 [GRCh38]
Chr9:111651620 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) single nucleotide variant Familial dysautonomia [RCV000338102]|not provided [RCV000860138]|not specified [RCV000245896] Chr9:108891294 [GRCh38]
Chr9:111653574 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003640.5(ELP1):c.3513T>C (p.Ser1171=) single nucleotide variant Familial dysautonomia [RCV000274649]|not provided [RCV000869320] Chr9:108879505 [GRCh38]
Chr9:111641785 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.3791A>G (p.Gln1264Arg) single nucleotide variant Familial dysautonomia [RCV000276571] Chr9:108878059 [GRCh38]
Chr9:111640339 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.4(ELP1):c.-353C>A single nucleotide variant Familial dysautonomia [RCV000270372] Chr9:108934161 [GRCh38]
Chr9:111696441 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-177C>T single nucleotide variant Familial dysautonomia [RCV000277345] Chr9:108933985 [GRCh38]
Chr9:111696265 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1911T>C (p.Val637=) single nucleotide variant Familial dysautonomia [RCV000278309]|not provided [RCV001450077] Chr9:108901528 [GRCh38]
Chr9:111663808 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.*1071G>A single nucleotide variant Familial dysautonomia [RCV000286241] Chr9:108868044 [GRCh38]
Chr9:111630324 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.178G>C (p.Glu60Gln) single nucleotide variant Familial dysautonomia [RCV000286470] Chr9:108929894 [GRCh38]
Chr9:111692174 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) single nucleotide variant Familial dysautonomia [RCV000287654]|not provided [RCV000278649] Chr9:108929864 [GRCh38]
Chr9:111692144 [GRCh37]
Chr9:9q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile) single nucleotide variant Familial dysautonomia [RCV000290763]|not provided [RCV001850929] Chr9:108906332 [GRCh38]
Chr9:111668612 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) single nucleotide variant not provided [RCV000306378] Chr9:108899837 [GRCh38]
Chr9:111662117 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1214C>T single nucleotide variant Familial dysautonomia [RCV000291864] Chr9:108867901 [GRCh38]
Chr9:111630181 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.322G>A (p.Val108Ile) single nucleotide variant Familial dysautonomia [RCV000293104] Chr9:108927435 [GRCh38]
Chr9:111689715 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1259C>G single nucleotide variant Familial dysautonomia [RCV000293144] Chr9:108867856 [GRCh38]
Chr9:111630136 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) single nucleotide variant Familial dysautonomia [RCV000297833]|not provided [RCV000590763] Chr9:108874950 [GRCh38]
Chr9:111637230 [GRCh37]
Chr9:9q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.2958+10A>T single nucleotide variant Familial dysautonomia [RCV000298453]|not provided [RCV001451072] Chr9:108892976 [GRCh38]
Chr9:111655256 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.-126T>G single nucleotide variant Familial dysautonomia [RCV000299565]|not provided [RCV000829686] Chr9:108933934 [GRCh38]
Chr9:111696214 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.*502C>T single nucleotide variant Familial dysautonomia [RCV000303348] Chr9:108868613 [GRCh38]
Chr9:111630893 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) single nucleotide variant Familial dysautonomia [RCV000302687]|not provided [RCV000493897] Chr9:108916215 [GRCh38]
Chr9:111678495 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) single nucleotide variant Familial dysautonomia [RCV000312657]|not provided [RCV001459462] Chr9:108896634 [GRCh38]
Chr9:111658914 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) single nucleotide variant Familial dysautonomia [RCV000315333]|not provided [RCV000756274] Chr9:108878065 [GRCh38]
Chr9:111640345 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1494A>G single nucleotide variant Familial dysautonomia [RCV000318167] Chr9:108867621 [GRCh38]
Chr9:111629901 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1277T>G single nucleotide variant Familial dysautonomia [RCV000316880] Chr9:108867838 [GRCh38]
Chr9:111630118 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) single nucleotide variant Familial dysautonomia [RCV000324095]|not provided [RCV001417884] Chr9:108897279 [GRCh38]
Chr9:111659559 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.304-5C>T single nucleotide variant Familial dysautonomia [RCV000327469]|not provided [RCV000858401] Chr9:108927458 [GRCh38]
Chr9:111689738 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) single nucleotide variant Familial dysautonomia [RCV000327531]|not provided [RCV000586759] Chr9:108879526 [GRCh38]
Chr9:111641806 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_003640.5(ELP1):c.-242T>G single nucleotide variant Familial dysautonomia [RCV000330125] Chr9:108934050 [GRCh38]
Chr9:111696330 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1254C>A single nucleotide variant Familial dysautonomia [RCV000331739] Chr9:108867861 [GRCh38]
Chr9:111630141 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*392A>G single nucleotide variant Familial dysautonomia [RCV000337255] Chr9:108868723 [GRCh38]
Chr9:111631003 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) single nucleotide variant Familial dysautonomia [RCV000339347]|Medulloblastoma [RCV001789773]|not provided [RCV001201382] Chr9:108882151 [GRCh38]
Chr9:111644431 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1062G>T single nucleotide variant Familial dysautonomia [RCV000343494] Chr9:108868053 [GRCh38]
Chr9:111630333 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1191T>G single nucleotide variant Familial dysautonomia [RCV000344682] Chr9:108867924 [GRCh38]
Chr9:111630204 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) single nucleotide variant Familial dysautonomia [RCV000345015]|not provided [RCV000863374] Chr9:108929869 [GRCh38]
Chr9:111692149 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) single nucleotide variant Familial dysautonomia [RCV000348377]|not provided [RCV000586926] Chr9:108902935 [GRCh38]
Chr9:111665215 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) single nucleotide variant Familial dysautonomia [RCV000351107]|not provided [RCV000757403] Chr9:108894000 [GRCh38]
Chr9:111656280 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-155A>T single nucleotide variant Familial dysautonomia [RCV000356773] Chr9:108933963 [GRCh38]
Chr9:111696243 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) single nucleotide variant Familial dysautonomia [RCV000355008]|not provided [RCV000757404] Chr9:108874957 [GRCh38]
Chr9:111637237 [GRCh37]
Chr9:9q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) single nucleotide variant Familial dysautonomia [RCV000360847]|not provided [RCV000791436] Chr9:108912380 [GRCh38]
Chr9:111674660 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-301C>G single nucleotide variant Familial dysautonomia [RCV000368493]|not provided [RCV000829685] Chr9:108934109 [GRCh38]
Chr9:111696389 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.-158C>G single nucleotide variant Familial dysautonomia [RCV000369591] Chr9:108933966 [GRCh38]
Chr9:111696246 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3222+14C>T single nucleotide variant Familial dysautonomia [RCV000377567]|not provided [RCV001699403]|not specified [RCV000432127] Chr9:108889318 [GRCh38]
Chr9:111651598 [GRCh37]
Chr9:9q31.3
benign|likely benign|uncertain significance
NM_003640.5(ELP1):c.3346+6G>C single nucleotide variant Familial dysautonomia [RCV000378442] Chr9:108881699 [GRCh38]
Chr9:111643979 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3152C>T (p.Thr1051Ile) single nucleotide variant not provided [RCV000396196] Chr9:108891211 [GRCh38]
Chr9:111653491 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1124C>T single nucleotide variant Familial dysautonomia [RCV000382974] Chr9:108867991 [GRCh38]
Chr9:111630271 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1247T>C single nucleotide variant Familial dysautonomia [RCV000383888] Chr9:108867868 [GRCh38]
Chr9:111630148 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.209G>A (p.Arg70His) single nucleotide variant Familial dysautonomia [RCV000384303]|Hereditary sensory and autonomic neuropathy [RCV001271221]|not provided [RCV000858275] Chr9:108929863 [GRCh38]
Chr9:111692143 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.3474C>T (p.Pro1158=) single nucleotide variant Familial dysautonomia [RCV000384366]|not provided [RCV000863170] Chr9:108879544 [GRCh38]
Chr9:111641824 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) single nucleotide variant Familial dysautonomia [RCV000387658]|not provided [RCV000858502] Chr9:108901658 [GRCh38]
Chr9:111663938 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.*1260C>T single nucleotide variant Familial dysautonomia [RCV000387729] Chr9:108867855 [GRCh38]
Chr9:111630135 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) single nucleotide variant Familial dysautonomia [RCV000390834]|not provided [RCV000867149] Chr9:108894004 [GRCh38]
Chr9:111656284 [GRCh37]
Chr9:9q31.3
benign|uncertain significance
NM_003640.5(ELP1):c.*861T>G single nucleotide variant Familial dysautonomia [RCV000402566] Chr9:108868254 [GRCh38]
Chr9:111630534 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) microsatellite Familial dysautonomia [RCV000404116]|not provided [RCV000823322] Chr9:108908324..108908326 [GRCh38]
Chr9:111670604..111670606 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3931+14C>G single nucleotide variant Familial dysautonomia [RCV000406241]|not provided [RCV002061308] Chr9:108874881 [GRCh38]
Chr9:111637161 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.-155A>G single nucleotide variant Familial dysautonomia [RCV000404294] Chr9:108933963 [GRCh38]
Chr9:111696243 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.*1351C>A single nucleotide variant Familial dysautonomia [RCV000259230] Chr9:108867764 [GRCh38]
Chr9:111630044 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) single nucleotide variant Familial dysautonomia [RCV000262689]|not provided [RCV000755553] Chr9:108916239 [GRCh38]
Chr9:111678519 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu) single nucleotide variant Familial dysautonomia [RCV000265311]|not provided [RCV000823514] Chr9:108901431 [GRCh38]
Chr9:111663711 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile) single nucleotide variant Familial dysautonomia [RCV001278709] Chr9:108897275 [GRCh38]
Chr9:111659555 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) single nucleotide variant Familial dysautonomia [RCV001278712] Chr9:108901526 [GRCh38]
Chr9:111663806 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1361-3C>A single nucleotide variant Familial dysautonomia [RCV001278718] Chr9:108908407 [GRCh38]
Chr9:111670687 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1323T>C (p.Val441=) single nucleotide variant Familial dysautonomia [RCV001278720]|not provided [RCV001446953] Chr9:108911047 [GRCh38]
Chr9:111673327 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr) single nucleotide variant Familial dysautonomia [RCV001278725] Chr9:108912272 [GRCh38]
Chr9:111674552 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.824A>G (p.His275Arg) single nucleotide variant Familial dysautonomia [RCV001278730] Chr9:108917587 [GRCh38]
Chr9:111679867 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1050G>A (p.Met350Ile) single nucleotide variant Familial dysautonomia [RCV000549129]|not provided [RCV001362399] Chr9:108912403 [GRCh38]
Chr9:111674683 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1750+154A>G single nucleotide variant not provided [RCV001567926] Chr9:108903409 [GRCh38]
Chr9:111665689 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.-38A>G single nucleotide variant Familial dysautonomia [RCV001279518] Chr9:108931184 [GRCh38]
Chr9:111693464 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3398G>A (p.Arg1133His) single nucleotide variant Familial dysautonomia [RCV001829402]|not provided [RCV000489816] Chr9:108880114 [GRCh38]
Chr9:111642394 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3495C>G (p.Leu1165=) single nucleotide variant Familial dysautonomia [RCV001277368]|not provided [RCV002069398] Chr9:108879523 [GRCh38]
Chr9:111641803 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.3493C>T (p.Leu1165Phe) single nucleotide variant Familial dysautonomia [RCV001277369]|not provided [RCV001880224] Chr9:108879525 [GRCh38]
Chr9:111641805 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=) single nucleotide variant Gaucher disease [RCV001277372] Chr9:108889359 [GRCh38]
Chr9:111651639 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys) single nucleotide variant Familial dysautonomia [RCV001277388] Chr9:108897232 [GRCh38]
Chr9:111659512 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3590G>A (p.Arg1197His) single nucleotide variant Familial dysautonomia [RCV000366999] Chr9:108878733 [GRCh38]
Chr9:111641013 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg) single nucleotide variant Familial dysautonomia [RCV000295825]|not provided [RCV001297829] Chr9:108902901 [GRCh38]
Chr9:111665181 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-156G>A single nucleotide variant Familial dysautonomia [RCV000298374] Chr9:108933964 [GRCh38]
Chr9:111696244 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.169T>C (p.Leu57=) single nucleotide variant Familial dysautonomia [RCV000339134]|not provided [RCV002058764] Chr9:108929903 [GRCh38]
Chr9:111692183 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.1709T>G (p.Val570Gly) single nucleotide variant Familial dysautonomia [RCV000391792] Chr9:108903604 [GRCh38]
Chr9:111665884 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.4(ELP1):c.-403C>T single nucleotide variant Familial dysautonomia [RCV000325437] Chr9:108934211 [GRCh38]
Chr9:111696491 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1352A>G single nucleotide variant Familial dysautonomia [RCV000356424] Chr9:108867763 [GRCh38]
Chr9:111630043 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.4(ELP1):c.-534delC deletion Familial dysautonomia [RCV000280357] Chr9:108934342 [GRCh38]
Chr9:111696622 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3469G>A (p.Val1157Ile) single nucleotide variant Familial dysautonomia [RCV000326098] Chr9:108879549 [GRCh38]
Chr9:111641829 [GRCh37]
Chr9:9q31.3
uncertain significance
GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Optic atrophy [RCV000626497] Chr9:111624558..111812725 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) single nucleotide variant Familial dysautonomia [RCV001166745]|not provided [RCV000726723]|not specified [RCV000592752] Chr9:108903609 [GRCh38]
Chr9:111665889 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.-59_-56+15del deletion Familial dysautonomia [RCV000670186]|not provided [RCV000598826] Chr9:108933849..108933867 [GRCh38]
Chr9:111696129..111696147 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) single nucleotide variant Familial dysautonomia [RCV001276229]|not provided [RCV000593304] Chr9:108898737 [GRCh38]
Chr9:111661017 [GRCh37]
Chr9:9q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.348_351dup (p.Ser118fs) duplication not provided [RCV000806264] Chr9:108927405..108927406 [GRCh38]
Chr9:111689685..111689686 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) duplication Familial dysautonomia [RCV000588759]|not provided [RCV001224978] Chr9:108878679..108878680 [GRCh38]
Chr9:111640959..111640960 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.1461-2A>G single nucleotide variant Familial dysautonomia [RCV000668028]|not provided [RCV000596965] Chr9:108906487 [GRCh38]
Chr9:111668767 [GRCh37]
Chr9:9q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.12:g.(?_108877985)_(108931156_?)del deletion not provided [RCV000817935] Chr9:108877985..108931156 [GRCh38]
Chr9:111640265..111693436 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.1169A>G (p.Asn390Ser) single nucleotide variant not provided [RCV000630677] Chr9:108912284 [GRCh38]
Chr9:111674564 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) single nucleotide variant Familial dysautonomia [RCV000626095] Chr9:108911114 [GRCh38]
Chr9:111673394 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2204+1G>A single nucleotide variant Familial dysautonomia [RCV000409095] Chr9:108899821 [GRCh38]
Chr9:111662101 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3931+39A>G single nucleotide variant not provided [RCV001546042] Chr9:108874856 [GRCh38]
Chr9:111637136 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2860+2T>C single nucleotide variant Familial dysautonomia [RCV000409912]|not provided [RCV001865258] Chr9:108893941 [GRCh38]
Chr9:111656221 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) single nucleotide variant Familial dysautonomia [RCV000410939] Chr9:108893986 [GRCh38]
Chr9:111656266 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2359T>C (p.Leu787=) single nucleotide variant Familial dysautonomia [RCV001829558]|not provided [RCV000559607] Chr9:108898506 [GRCh38]
Chr9:111660786 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2158del (p.His720fs) deletion Familial dysautonomia [RCV000411836] Chr9:108899868 [GRCh38]
Chr9:111662148 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.842C>T (p.Pro281Leu) single nucleotide variant Familial dysautonomia [RCV000560554]|not provided [RCV001320817] Chr9:108917569 [GRCh38]
Chr9:111679849 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1656G>A (p.Ala552=) single nucleotide variant not provided [RCV000555756] Chr9:108903657 [GRCh38]
Chr9:111665937 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) duplication Familial dysautonomia [RCV000412398] Chr9:108900313..108900314 [GRCh38]
Chr9:111662593..111662594 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) single nucleotide variant Familial dysautonomia [RCV001168463]|Hereditary sensory and autonomic neuropathy [RCV001276240]|not provided [RCV000630703]|not specified [RCV000780354] Chr9:108911157 [GRCh38]
Chr9:111673437 [GRCh37]
Chr9:9q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.2025C>T (p.Ala675=) single nucleotide variant Familial dysautonomia [RCV001276231]|not provided [RCV000861780] Chr9:108900365 [GRCh38]
Chr9:111662645 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.3347-15A>G single nucleotide variant Familial dysautonomia [RCV001166177]|not provided [RCV001701004]|not specified [RCV000434445] Chr9:108880180 [GRCh38]
Chr9:111642460 [GRCh37]
Chr9:9q31.3
benign|likely benign|uncertain significance
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) single nucleotide variant Familial dysautonomia [RCV001828408]|not provided [RCV000466309] Chr9:108896601 [GRCh38]
Chr9:111658881 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.1143G>A (p.Val381=) single nucleotide variant Familial dysautonomia [RCV001833528]|not provided [RCV000550635] Chr9:108912310 [GRCh38]
Chr9:111674590 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2015-20T>C single nucleotide variant not specified [RCV000438693] Chr9:108900395 [GRCh38]
Chr9:111662675 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2790T>C (p.Asn930=) single nucleotide variant not provided [RCV000863158]|not specified [RCV000424912] Chr9:108894013 [GRCh38]
Chr9:111656293 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2204+18G>C single nucleotide variant Familial dysautonomia [RCV001274121]|not provided [RCV001720148] Chr9:108899804 [GRCh38]
Chr9:111662084 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.888A>G (p.Ala296=) single nucleotide variant Familial dysautonomia [RCV001828422]|not provided [RCV000630705]|not specified [RCV000439637] Chr9:108916274 [GRCh38]
Chr9:111678554 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.-17G>A single nucleotide variant Familial dysautonomia [RCV001271222]|not specified [RCV000423317] Chr9:108931163 [GRCh38]
Chr9:111693443 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.-64G>A single nucleotide variant Familial dysautonomia [RCV001276647]|not specified [RCV000423347] Chr9:108933872 [GRCh38]
Chr9:111696152 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3346+7G>T single nucleotide variant Familial dysautonomia [RCV001275743]|not provided [RCV000867472]|not specified [RCV000430439] Chr9:108881698 [GRCh38]
Chr9:111643978 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) single nucleotide variant Familial dysautonomia [RCV001271220]|not provided [RCV000556713] Chr9:108929786 [GRCh38]
Chr9:111692066 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=) single nucleotide variant Familial dysautonomia [RCV001833550]|not provided [RCV001458183]|not specified [RCV000433897] Chr9:108878687 [GRCh38]
Chr9:111640967 [GRCh37]
Chr9:9q31.3
likely benign
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.3856-14dup duplication not specified [RCV000483898] Chr9:108874983..108874984 [GRCh38]
Chr9:111637263..111637264 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) duplication Familial dysautonomia [RCV000793636]|not provided [RCV000483202] Chr9:108897149..108897150 [GRCh38]
Chr9:111659429..111659430 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.2254C>A (p.Leu752Ile) single nucleotide variant Familial dysautonomia [RCV000457066]|not provided [RCV001314908] Chr9:108898700 [GRCh38]
Chr9:111660980 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1644-15_1644-13del deletion not provided [RCV002063731]|not specified [RCV000485818] Chr9:108903682..108903684 [GRCh38]
Chr9:111665962..111665964 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) single nucleotide variant Familial dysautonomia [RCV001276232]|not specified [RCV000508233] Chr9:108901430 [GRCh38]
Chr9:111663710 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2588-6T>G single nucleotide variant Familial dysautonomia [RCV000699481]|not provided [RCV001365935] Chr9:108896650 [GRCh38]
Chr9:111658930 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1460+3A>G single nucleotide variant Familial dysautonomia [RCV000687052]|not provided [RCV001306622] Chr9:108908302 [GRCh38]
Chr9:111670582 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln) single nucleotide variant Familial dysautonomia [RCV001276646]|not provided [RCV000692828] Chr9:108931124 [GRCh38]
Chr9:111693404 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3688G>C (p.Glu1230Gln) single nucleotide variant Familial dysautonomia [RCV000541831] Chr9:108878635 [GRCh38]
Chr9:111640915 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) single nucleotide variant Familial dysautonomia [RCV001169158]|not provided [RCV000828356] Chr9:108897213 [GRCh38]
Chr9:111659493 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.2394T>C (p.Pro798=) single nucleotide variant Familial dysautonomia [RCV001829721]|not provided [RCV000939170]|not specified [RCV000602742] Chr9:108897255 [GRCh38]
Chr9:111659535 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu) single nucleotide variant Familial dysautonomia [RCV001274119]|not provided [RCV000630693] Chr9:108898540 [GRCh38]
Chr9:111660820 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1973A>G (p.His658Arg) single nucleotide variant Familial dysautonomia [RCV000630697]|not provided [RCV001034682] Chr9:108901466 [GRCh38]
Chr9:111663746 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.606G>T (p.Gly202=) single nucleotide variant Familial dysautonomia [RCV001166286]|not provided [RCV000827122] Chr9:108919296 [GRCh38]
Chr9:111681576 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.2982G>A (p.Glu994=) single nucleotide variant Familial dysautonomia [RCV001834742]|not provided [RCV000535172] Chr9:108891381 [GRCh38]
Chr9:111653661 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) single nucleotide variant Familial dysautonomia [RCV000778872]|not provided [RCV000596363] Chr9:108927445 [GRCh38]
Chr9:111689725 [GRCh37]
Chr9:9q31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.348T>C (p.Ser116=) single nucleotide variant Familial dysautonomia [RCV001276642]|not provided [RCV000866292]|not specified [RCV000599841] Chr9:108927409 [GRCh38]
Chr9:111689689 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val) single nucleotide variant Familial dysautonomia [RCV000536658] Chr9:108893997 [GRCh38]
Chr9:111656277 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.154A>G (p.Lys52Glu) single nucleotide variant Familial dysautonomia [RCV000540885] Chr9:108929918 [GRCh38]
Chr9:111692198 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1457A>G (p.Tyr486Cys) single nucleotide variant Familial dysautonomia [RCV001274628]|not provided [RCV000630678] Chr9:108908308 [GRCh38]
Chr9:111670588 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1039G>T (p.Val347Leu) single nucleotide variant Familial dysautonomia [RCV001276242]|not provided [RCV000630680] Chr9:108912414 [GRCh38]
Chr9:111674694 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.649+3A>G single nucleotide variant Familial dysautonomia [RCV000630688]|not provided [RCV001297363] Chr9:108919250 [GRCh38]
Chr9:111681530 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2778A>G (p.Lys926=) single nucleotide variant not provided [RCV000757405] Chr9:108894025 [GRCh38]
Chr9:111656305 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln) single nucleotide variant Familial dysautonomia [RCV000542389] Chr9:108911156 [GRCh38]
Chr9:111673436 [GRCh37]
Chr9:9q31.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_003640.5(ELP1):c.3126A>T (p.Lys1042Asn) single nucleotide variant Familial dysautonomia [RCV000630685]|not provided [RCV001327709] Chr9:108891237 [GRCh38]
Chr9:111653517 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.303+3A>G single nucleotide variant Familial dysautonomia [RCV000630686]|not provided [RCV001302088] Chr9:108929766 [GRCh38]
Chr9:111692046 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1529A>G (p.Glu510Gly) single nucleotide variant Familial dysautonomia [RCV001274627]|not provided [RCV000630689] Chr9:108906417 [GRCh38]
Chr9:111668697 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) single nucleotide variant Familial dysautonomia [RCV000630694]|not provided [RCV001201381] Chr9:108889341 [GRCh38]
Chr9:111651621 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3573-7C>G single nucleotide variant Familial dysautonomia [RCV000630701]|not provided [RCV000859237] Chr9:108878757 [GRCh38]
Chr9:111641037 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.150+16A>G single nucleotide variant not provided [RCV002065233]|not specified [RCV000614967] Chr9:108930981 [GRCh38]
Chr9:111693261 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3460+13G>A single nucleotide variant not provided [RCV002064212]|not specified [RCV000601733] Chr9:108880039 [GRCh38]
Chr9:111642319 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3460+13G>T single nucleotide variant not specified [RCV000616168] Chr9:108880039 [GRCh38]
Chr9:111642319 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1075C>T (p.Leu359=) single nucleotide variant Familial dysautonomia [RCV001274632]|not provided [RCV000865072]|not specified [RCV000610596] Chr9:108912378 [GRCh38]
Chr9:111674658 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg) single nucleotide variant Familial dysautonomia [RCV001168464]|not provided [RCV000534244]|not specified [RCV000613358] Chr9:108912436 [GRCh38]
Chr9:111674716 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu) single nucleotide variant Familial dysautonomia [RCV000630681]|not provided [RCV001340483] Chr9:108900322 [GRCh38]
Chr9:111662602 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.235G>C (p.Asp79His) single nucleotide variant Familial dysautonomia [RCV000630687]|not provided [RCV001320689] Chr9:108929837 [GRCh38]
Chr9:111692117 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3908A>G (p.Gln1303Arg) single nucleotide variant Familial dysautonomia [RCV000630690]|not provided [RCV001352166] Chr9:108874918 [GRCh38]
Chr9:111637198 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3285+2T>C single nucleotide variant Familial dysautonomia [RCV000630692]|not provided [RCV001378358] Chr9:108882123 [GRCh38]
Chr9:111644403 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1499C>T (p.Pro500Leu) single nucleotide variant Familial dysautonomia [RCV000630695]|not provided [RCV001860493] Chr9:108906447 [GRCh38]
Chr9:111668727 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) single nucleotide variant Familial dysautonomia [RCV001000053]|Hereditary sensory and autonomic neuropathy [RCV001276236]|not provided [RCV000757402]|not specified [RCV000605065] Chr9:108903592 [GRCh38]
Chr9:111665872 [GRCh37]
Chr9:9q31.3
benign|likely benign
NM_003640.5(ELP1):c.2529T>C (p.His843=) single nucleotide variant Familial dysautonomia [RCV001274116]|not provided [RCV000543855]|not specified [RCV000615998] Chr9:108897011 [GRCh38]
Chr9:111659291 [GRCh37]
Chr9:9q31.3
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu) single nucleotide variant Familial dysautonomia [RCV000630679]|not provided [RCV001771848] Chr9:108929863 [GRCh38]
Chr9:111692143 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1175C>T (p.Ala392Val) single nucleotide variant Familial dysautonomia [RCV001829774]|not provided [RCV000630682] Chr9:108912278 [GRCh38]
Chr9:111674558 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His) single nucleotide variant Familial dysautonomia [RCV000630683]|not provided [RCV000999198] Chr9:108891331 [GRCh38]
Chr9:111653611 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met) single nucleotide variant Familial dysautonomia [RCV001276233]|not provided [RCV000630684] Chr9:108901514 [GRCh38]
Chr9:111663794 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.270A>T (p.Gly90=) single nucleotide variant Familial dysautonomia [RCV000630691]|not provided [RCV001868168] Chr9:108929802 [GRCh38]
Chr9:111692082 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3931+1G>A single nucleotide variant Familial dysautonomia [RCV000630696]|not provided [RCV001340982] Chr9:108874894 [GRCh38]
Chr9:111637174 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.602G>C (p.Arg201Pro) single nucleotide variant Familial dysautonomia [RCV000630698] Chr9:108919300 [GRCh38]
Chr9:111681580 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) single nucleotide variant Medulloblastoma [RCV001789780]|not provided [RCV000999197] Chr9:108891212 [GRCh38]
Chr9:111653492 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.865-9C>T single nucleotide variant Familial dysautonomia [RCV001027951]|not provided [RCV000630704] Chr9:108916306 [GRCh38]
Chr9:111678586 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NC_000009.11:g.(?_111693257)_(111693446_?)dup duplication Familial dysautonomia [RCV000630706] Chr9:108930977..108931166 [GRCh38]
Chr9:111693257..111693446 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2308_2310del (p.Phe770del) deletion Familial dysautonomia [RCV000672088] Chr9:108898555..108898557 [GRCh38]
Chr9:111660835..111660837 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) single nucleotide variant Familial dysautonomia [RCV000685217]|not provided [RCV001324208] Chr9:108874909 [GRCh38]
Chr9:111637189 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2505C>A (p.Tyr835Ter) single nucleotide variant Familial dysautonomia [RCV000688564]|not provided [RCV001380960] Chr9:108897035 [GRCh38]
Chr9:111659315 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.1135C>G (p.Arg379Gly) single nucleotide variant Familial dysautonomia [RCV000703282]|not provided [RCV001344006] Chr9:108912318 [GRCh38]
Chr9:111674598 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1982_1993del (p.Gln661_Cys664del) deletion Familial dysautonomia [RCV000673301] Chr9:108901446..108901457 [GRCh38]
Chr9:111663726..111663737 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2014+1G>A single nucleotide variant Familial dysautonomia [RCV000672450] Chr9:108901424 [GRCh38]
Chr9:111663704 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3701-6C>G single nucleotide variant Familial dysautonomia [RCV000664986]|not provided [RCV001391327] Chr9:108878155 [GRCh38]
Chr9:111640435 [GRCh37]
Chr9:9q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003640.5(ELP1):c.2398_2400dup (p.Pro800dup) duplication Familial dysautonomia [RCV000665040] Chr9:108897248..108897249 [GRCh38]
Chr9:111659528..111659529 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3397C>T (p.Arg1133Cys) single nucleotide variant Familial dysautonomia [RCV000666894]|not provided [RCV001041168] Chr9:108880115 [GRCh38]
Chr9:111642395 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.151-1G>A single nucleotide variant Familial dysautonomia [RCV000668015] Chr9:108929922 [GRCh38]
Chr9:111692202 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.386-2A>C single nucleotide variant Familial dysautonomia [RCV000668110] Chr9:108926605 [GRCh38]
Chr9:111688885 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.97del (p.Val33fs) deletion Familial dysautonomia [RCV000671254] Chr9:108931050 [GRCh38]
Chr9:111693330 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1360+1G>T single nucleotide variant Familial dysautonomia [RCV000668411] Chr9:108911009 [GRCh38]
Chr9:111673289 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn) single nucleotide variant Familial dysautonomia [RCV001271564]|not provided [RCV000689067] Chr9:108879491 [GRCh38]
Chr9:111641771 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) single nucleotide variant Familial dysautonomia [RCV000668488]|not provided [RCV001071602] Chr9:108878731 [GRCh38]
Chr9:111641011 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.3917C>A (p.Ser1306Ter) single nucleotide variant Familial dysautonomia [RCV000672545] Chr9:108874909 [GRCh38]
Chr9:111637189 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1941TGA[1] (p.Asp648del) microsatellite Familial dysautonomia [RCV000667066] Chr9:108901493..108901495 [GRCh38]
Chr9:111663773..111663775 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.151-1G>T single nucleotide variant Familial dysautonomia [RCV000674659] Chr9:108929922 [GRCh38]
Chr9:111692202 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3223-16C>G single nucleotide variant Familial dysautonomia [RCV000664988]|not provided [RCV002060808] Chr9:108882203 [GRCh38]
Chr9:111644483 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) deletion Familial dysautonomia [RCV000667413] Chr9:108906476..108906477 [GRCh38]
Chr9:111668756..111668757 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1461-1G>T single nucleotide variant Familial dysautonomia [RCV000667416] Chr9:108906486 [GRCh38]
Chr9:111668766 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) single nucleotide variant Familial dysautonomia [RCV000667461]|not provided [RCV001204091] Chr9:108931143 [GRCh38]
Chr9:111693423 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.304-2A>G single nucleotide variant Familial dysautonomia [RCV000667469]|not provided [RCV001379354] Chr9:108927455 [GRCh38]
Chr9:111689735 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) deletion Familial dysautonomia [RCV000667470]|not provided [RCV001232986] Chr9:108912299 [GRCh38]
Chr9:111674579 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) single nucleotide variant Familial dysautonomia [RCV000667495] Chr9:108931146 [GRCh38]
Chr9:111693426 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) deletion Familial dysautonomia [RCV000667503] Chr9:108901633..108901634 [GRCh38]
Chr9:111663913..111663914 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2958+1G>C single nucleotide variant Familial dysautonomia [RCV000667505]|not provided [RCV001855481] Chr9:108892985 [GRCh38]
Chr9:111655265 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3701-1G>A single nucleotide variant Familial dysautonomia [RCV000667528] Chr9:108878150 [GRCh38]
Chr9:111640430 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3937G>T (p.Glu1313Ter) single nucleotide variant Familial dysautonomia [RCV000667529] Chr9:108869177 [GRCh38]
Chr9:111631457 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.552+2dup duplication Familial dysautonomia [RCV000667530] Chr9:108922839..108922840 [GRCh38]
Chr9:111685119..111685120 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.54del (p.Asn20fs) deletion Familial dysautonomia [RCV000667539] Chr9:108931093 [GRCh38]
Chr9:111693373 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3784dup (p.Thr1262fs) duplication Familial dysautonomia [RCV000671711] Chr9:108878065..108878066 [GRCh38]
Chr9:111640345..111640346 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3358_3360dup (p.Tyr1120dup) duplication Familial dysautonomia [RCV000671903] Chr9:108880151..108880152 [GRCh38]
Chr9:111642431..111642432 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1094G>T (p.Gly365Val) single nucleotide variant Familial dysautonomia [RCV000696060]|not provided [RCV001295739] Chr9:108912359 [GRCh38]
Chr9:111674639 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1961C>A (p.Thr654Lys) single nucleotide variant Familial dysautonomia [RCV000698994]|not provided [RCV001303762] Chr9:108901478 [GRCh38]
Chr9:111663758 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3572+5G>T single nucleotide variant Familial dysautonomia [RCV000699735] Chr9:108879441 [GRCh38]
Chr9:111641721 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr) single nucleotide variant Familial dysautonomia [RCV001271567]|not provided [RCV000700131] Chr9:108893958 [GRCh38]
Chr9:111656238 [GRCh37]
Chr9:9q31.3
uncertain significance
NC_000009.12:g.(?_108869115)_(108901681_?)del deletion Familial dysautonomia [RCV000708157]|not provided [RCV001379109] Chr9:108869115..108901681 [GRCh38]
Chr9:111631395..111663961 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1461-1G>A single nucleotide variant Familial dysautonomia [RCV000672968] Chr9:108906486 [GRCh38]
Chr9:111668766 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.552+1G>T single nucleotide variant Familial dysautonomia [RCV000673191] Chr9:108922841 [GRCh38]
Chr9:111685121 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1854+1G>A single nucleotide variant Familial dysautonomia [RCV000674672] Chr9:108902838 [GRCh38]
Chr9:111665118 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1751-2A>T single nucleotide variant Familial dysautonomia [RCV000674829] Chr9:108902944 [GRCh38]
Chr9:111665224 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter) single nucleotide variant Familial dysautonomia [RCV000671681] Chr9:108869137 [GRCh38]
Chr9:111631417 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.385+1G>A single nucleotide variant Familial dysautonomia [RCV000674490]|not provided [RCV001378198] Chr9:108927371 [GRCh38]
Chr9:111689651 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.552+2T>A single nucleotide variant Familial dysautonomia [RCV000667989]|not provided [RCV001216024] Chr9:108922840 [GRCh38]
Chr9:111685120 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.641del (p.Pro214fs) deletion Familial dysautonomia [RCV000668489]|not provided [RCV000808850] Chr9:108919261 [GRCh38]
Chr9:111681541 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.818_829del (p.Leu273_Gly276del) deletion Familial dysautonomia [RCV000668767] Chr9:108917582..108917593 [GRCh38]
Chr9:111679862..111679873 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1705GTA[1] (p.Val570del) microsatellite Familial dysautonomia [RCV000672778] Chr9:108903603..108903605 [GRCh38]
Chr9:111665883..111665885 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1750+1G>T single nucleotide variant Familial dysautonomia [RCV000673955] Chr9:108903562 [GRCh38]
Chr9:111665842 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln) single nucleotide variant Familial dysautonomia [RCV001274635]|not provided [RCV000686633] Chr9:108917555 [GRCh38]
Chr9:111679835 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1573C>T (p.Arg525Trp) single nucleotide variant Familial dysautonomia [RCV000692994]|not provided [RCV001861909] Chr9:108906373 [GRCh38]
Chr9:111668653 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys) single nucleotide variant Familial dysautonomia [RCV000693675]|not provided [RCV001861910] Chr9:108869177 [GRCh38]
Chr9:111631457 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.697A>G (p.Thr233Ala) single nucleotide variant Familial dysautonomia [RCV000705671]|not provided [RCV001295495] Chr9:108918854 [GRCh38]
Chr9:111681134 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.147_150+1dup duplication Familial dysautonomia [RCV000673467] Chr9:108930995..108930996 [GRCh38]
Chr9:111693275..111693276 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.3931+1G>T single nucleotide variant Familial dysautonomia [RCV000666267] Chr9:108874894 [GRCh38]
Chr9:111637174 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2992_3003del (p.Gln998_Met1001del) deletion Familial dysautonomia [RCV000674918] Chr9:108891360..108891371 [GRCh38]
Chr9:111653640..111653651 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) single nucleotide variant Familial dysautonomia [RCV000667419]|not provided [RCV001855480] Chr9:108931068 [GRCh38]
Chr9:111693348 [GRCh37]
Chr9:9q31.3
pathogenic|likely pathogenic
NM_003640.5(ELP1):c.1189+1G>A single nucleotide variant Familial dysautonomia [RCV000667471] Chr9:108912263 [GRCh38]
Chr9:111674543 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2205-1G>C single nucleotide variant Familial dysautonomia [RCV000667498]|not provided [RCV001861759] Chr9:108898750 [GRCh38]
Chr9:111661030 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1908+2T>A single nucleotide variant Familial dysautonomia [RCV000667502] Chr9:108901626 [GRCh38]
Chr9:111663906 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2587+2T>G single nucleotide variant Familial dysautonomia [RCV000667504] Chr9:108896951 [GRCh38]
Chr9:111659231 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1775_1780del (p.Pro592_Lys594delinsGln) deletion Familial dysautonomia [RCV000667718]|not provided [RCV001855486] Chr9:108902913..108902918 [GRCh38]
Chr9:111665193..111665198 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3460+12C>T single nucleotide variant not provided [RCV002104272] Chr9:108880040 [GRCh38]
Chr9:111642320 [GRCh37]
Chr9:9q31.3
likely benign
GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3 copy number gain not provided [RCV000683161] Chr9:108664157..115356416 [GRCh37]
Chr9:9q31.2-32
likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3
pathogenic
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn) single nucleotide variant Familial dysautonomia [RCV000693286] Chr9:108897188 [GRCh38]
Chr9:111659468 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1229C>T (p.Pro410Leu) single nucleotide variant Familial dysautonomia [RCV001278723]|not provided [RCV000696121] Chr9:108911141 [GRCh38]
Chr9:111673421 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1768A>G (p.Ile590Val) single nucleotide variant Familial dysautonomia [RCV001835923]|not provided [RCV000698326] Chr9:108902925 [GRCh38]
Chr9:111665205 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.274G>A (p.Val92Ile) single nucleotide variant Familial dysautonomia [RCV000707047]|not provided [RCV001345125] Chr9:108929798 [GRCh38]
Chr9:111692078 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp) single nucleotide variant Familial dysautonomia [RCV000686605] Chr9:108912318 [GRCh38]
Chr9:111674598 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1084C>T (p.Leu362Phe) single nucleotide variant Familial dysautonomia [RCV000699824] Chr9:108912369 [GRCh38]
Chr9:111674649 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile) single nucleotide variant Familial dysautonomia [RCV000702826] Chr9:108881726 [GRCh38]
Chr9:111644006 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly) single nucleotide variant Familial dysautonomia [RCV000702982] Chr9:108900358 [GRCh38]
Chr9:111662638 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3854C>T (p.Pro1285Leu) single nucleotide variant Familial dysautonomia [RCV000685828] Chr9:108877996 [GRCh38]
Chr9:111640276 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser) single nucleotide variant Familial dysautonomia [RCV000693963]|not provided [RCV001868312] Chr9:108899892 [GRCh38]
Chr9:111662172 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2224T>C (p.Phe742Leu) single nucleotide variant Familial dysautonomia [RCV000697760]|not provided [RCV001313665] Chr9:108898730 [GRCh38]
Chr9:111661010 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3285+6A>T single nucleotide variant Familial dysautonomia [RCV000699215]|not provided [RCV001861913] Chr9:108882119 [GRCh38]
Chr9:111644399 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3572+5G>C single nucleotide variant Familial dysautonomia [RCV000699834] Chr9:108879441 [GRCh38]
Chr9:111641721 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2284G>A (p.Val762Met) single nucleotide variant Familial dysautonomia [RCV000700681] Chr9:108898581 [GRCh38]
Chr9:111660861 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1537G>A (p.Val513Ile) single nucleotide variant Familial dysautonomia [RCV001276237]|not provided [RCV000700992] Chr9:108906409 [GRCh38]
Chr9:111668689 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.23G>T (p.Arg8Leu) single nucleotide variant Familial dysautonomia [RCV000701177] Chr9:108931124 [GRCh38]
Chr9:111693404 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys) single nucleotide variant Familial dysautonomia [RCV000705075]|not provided [RCV001342880] Chr9:108894002 [GRCh38]
Chr9:111656282 [GRCh37]
Chr9:9q31.3
uncertain significance
GRCh37/hg19 9q31.3(chr9:111654395-111670100)x1 copy number loss not provided [RCV000748600] Chr9:111654395..111670100 [GRCh37]
Chr9:9q31.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.1854+297A>G single nucleotide variant not provided [RCV001530878] Chr9:108902542 [GRCh38]
Chr9:111664822 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1360+166dup duplication not provided [RCV001541233] Chr9:108910830..108910831 [GRCh38]
Chr9:111673110..111673111 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3354A>G (p.Lys1118=) single nucleotide variant not provided [RCV000914183] Chr9:108880158 [GRCh38]
Chr9:111642438 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3160+27A>G single nucleotide variant not provided [RCV001571841] Chr9:108891176 [GRCh38]
Chr9:111653456 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.423G>A (p.Glu141=) single nucleotide variant Familial dysautonomia [RCV001271219]|not provided [RCV000979970] Chr9:108926566 [GRCh38]
Chr9:111688846 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2014+75C>A single nucleotide variant not provided [RCV001545948] Chr9:108901350 [GRCh38]
Chr9:111663630 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=) single nucleotide variant Familial dysautonomia [RCV001826994]|not provided [RCV000941645] Chr9:108879457 [GRCh38]
Chr9:111641737 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3347-257A>G single nucleotide variant not provided [RCV001648952] Chr9:108880422 [GRCh38]
Chr9:111642702 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn) single nucleotide variant Familial dysautonomia [RCV001825492]|not provided [RCV000756273] Chr9:108897241 [GRCh38]
Chr9:111659521 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2787T>C (p.Thr929=) single nucleotide variant not provided [RCV000762569] Chr9:108894016 [GRCh38]
Chr9:111656296 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2283+26C>G single nucleotide variant not provided [RCV001611033] Chr9:108898645 [GRCh38]
Chr9:111660925 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.664A>G (p.Arg222Gly) single nucleotide variant Familial dysautonomia [RCV001274637]|not provided [RCV001060029] Chr9:108918887 [GRCh38]
Chr9:111681167 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.74C>T (p.Ser25Phe) single nucleotide variant not provided [RCV001054841] Chr9:108931073 [GRCh38]
Chr9:111693353 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2860+242A>G single nucleotide variant not provided [RCV001586868] Chr9:108893701 [GRCh38]
Chr9:111655981 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1644-13T>C single nucleotide variant not provided [RCV001566124] Chr9:108903682 [GRCh38]
Chr9:111665962 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.*902C>T single nucleotide variant Familial dysautonomia [RCV001166112] Chr9:108868213 [GRCh38]
Chr9:111630493 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*838C>T single nucleotide variant Familial dysautonomia [RCV001166113] Chr9:108868277 [GRCh38]
Chr9:111630557 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*769T>A single nucleotide variant Familial dysautonomia [RCV001166115] Chr9:108868346 [GRCh38]
Chr9:111630626 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1489G>A single nucleotide variant Familial dysautonomia [RCV001166534] Chr9:108867626 [GRCh38]
Chr9:111629906 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*705C>T single nucleotide variant Familial dysautonomia [RCV001166599] Chr9:108868410 [GRCh38]
Chr9:111630690 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*636T>C single nucleotide variant Familial dysautonomia [RCV001166600] Chr9:108868479 [GRCh38]
Chr9:111630759 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*579A>G single nucleotide variant Familial dysautonomia [RCV001166601] Chr9:108868536 [GRCh38]
Chr9:111630816 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3144C>T (p.Leu1048=) single nucleotide variant Familial dysautonomia [RCV001166667]|not provided [RCV002067812] Chr9:108891219 [GRCh38]
Chr9:111653499 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.3368T>C (p.Phe1123Ser) single nucleotide variant Familial dysautonomia [RCV001007912] Chr9:108880144 [GRCh38]
Chr9:111642424 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.864+251G>A single nucleotide variant not provided [RCV001568868] Chr9:108917296 [GRCh38]
Chr9:111679576 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2460C>T (p.Cys820=) single nucleotide variant not provided [RCV000883218] Chr9:108897189 [GRCh38]
Chr9:111659469 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1647A>T (p.Ser549=) single nucleotide variant not provided [RCV000922946] Chr9:108903666 [GRCh38]
Chr9:111665946 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2976T>C (p.Tyr992=) single nucleotide variant not provided [RCV000928563] Chr9:108891387 [GRCh38]
Chr9:111653667 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3600G>A (p.Ala1200=) single nucleotide variant not provided [RCV000866525] Chr9:108878723 [GRCh38]
Chr9:111641003 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1833A>G (p.Glu611=) single nucleotide variant not provided [RCV000975335] Chr9:108902860 [GRCh38]
Chr9:111665140 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1128G>T (p.Thr376=) single nucleotide variant not provided [RCV000921812] Chr9:108912325 [GRCh38]
Chr9:111674605 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3888C>T (p.Ile1296=) single nucleotide variant not provided [RCV000945302] Chr9:108874938 [GRCh38]
Chr9:111637218 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=) single nucleotide variant Familial dysautonomia [RCV001835988]|not provided [RCV000863598] Chr9:108880056 [GRCh38]
Chr9:111642336 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=) single nucleotide variant Familial dysautonomia [RCV001277373]|not provided [RCV000966541] Chr9:108891210 [GRCh38]
Chr9:111653490 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1644-5G>T single nucleotide variant not provided [RCV000946302] Chr9:108903674 [GRCh38]
Chr9:111665954 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1914G>A (p.Ala638=) single nucleotide variant Familial dysautonomia [RCV001563846]|not provided [RCV000867920] Chr9:108901525 [GRCh38]
Chr9:111663805 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.2826A>T (p.Arg942=) single nucleotide variant Familial dysautonomia [RCV001825735]|not provided [RCV000867984] Chr9:108893977 [GRCh38]
Chr9:111656257 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3347-6C>T single nucleotide variant not provided [RCV000875673] Chr9:108880171 [GRCh38]
Chr9:111642451 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=) single nucleotide variant Familial dysautonomia [RCV001830890]|not provided [RCV000866081] Chr9:108878100 [GRCh38]
Chr9:111640380 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2017T>C (p.Leu673=) single nucleotide variant not provided [RCV000929371] Chr9:108900373 [GRCh38]
Chr9:111662653 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.909C>G (p.Val303=) single nucleotide variant Familial dysautonomia [RCV001274634]|not provided [RCV000867346] Chr9:108916253 [GRCh38]
Chr9:111678533 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.304-7G>A single nucleotide variant Familial dysautonomia [RCV001276643]|not provided [RCV000869096] Chr9:108927460 [GRCh38]
Chr9:111689740 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile) single nucleotide variant Familial dysautonomia [RCV001832418]|not provided [RCV001044042] Chr9:108903578 [GRCh38]
Chr9:111665858 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.593T>C (p.Val198Ala) single nucleotide variant Familial dysautonomia [RCV001276637]|not provided [RCV001051342] Chr9:108919309 [GRCh38]
Chr9:111681589 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3872C>G (p.Ser1291Cys) single nucleotide variant not provided [RCV001045300] Chr9:108874954 [GRCh38]
Chr9:111637234 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp) single nucleotide variant Familial dysautonomia [RCV001271563]|not provided [RCV001045574] Chr9:108878719 [GRCh38]
Chr9:111640999 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1750G>A (p.Glu584Lys) single nucleotide variant Familial dysautonomia [RCV001827284]|not provided [RCV001045581] Chr9:108903563 [GRCh38]
Chr9:111665843 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1925C>A (p.Thr642Lys) single nucleotide variant Familial dysautonomia [RCV001276234]|not provided [RCV001065144] Chr9:108901514 [GRCh38]
Chr9:111663794 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp) single nucleotide variant Familial dysautonomia [RCV001275744]|not provided [RCV001047302] Chr9:108891284 [GRCh38]
Chr9:111653564 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.667G>T (p.Val223Leu) single nucleotide variant Familial dysautonomia [RCV001832374]|not provided [RCV001035671] Chr9:108918884 [GRCh38]
Chr9:111681164 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2748A>G (p.Glu916=) single nucleotide variant not provided [RCV001423289]|not specified [RCV000781476] Chr9:108894055 [GRCh38]
Chr9:111656335 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003640.5(ELP1):c.1260C>T (p.Phe420=) single nucleotide variant not provided [RCV000951101] Chr9:108911110 [GRCh38]
Chr9:111673390 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1255C>T (p.Leu419=) single nucleotide variant not provided [RCV000951102] Chr9:108911115 [GRCh38]
Chr9:111673395 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1860T>C (p.Cys620=) single nucleotide variant Familial dysautonomia [RCV001274123]|not provided [RCV000864123] Chr9:108901676 [GRCh38]
Chr9:111663956 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3708A>G (p.Val1236=) single nucleotide variant Familial dysautonomia [RCV001563847]|not provided [RCV000864696] Chr9:108878142 [GRCh38]
Chr9:111640422 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=) single nucleotide variant Familial dysautonomia [RCV001275745]|not provided [RCV000864409] Chr9:108891294 [GRCh38]
Chr9:111653574 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1320T>A (p.Ala440=) single nucleotide variant Familial dysautonomia [RCV001825768]|not provided [RCV000875830] Chr9:108911050 [GRCh38]
Chr9:111673330 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2454T>C (p.Leu818=) single nucleotide variant Familial dysautonomia [RCV001825759]|not provided [RCV000872769] Chr9:108897195 [GRCh38]
Chr9:111659475 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.959-10T>C single nucleotide variant Familial dysautonomia [RCV001271215]|not provided [RCV000861892] Chr9:108912504 [GRCh38]
Chr9:111674784 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1563G>A (p.Glu521=) single nucleotide variant Familial dysautonomia [RCV001274626]|not provided [RCV000931240] Chr9:108906383 [GRCh38]
Chr9:111668663 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1947G>A (p.Glu649=) single nucleotide variant not provided [RCV000978188] Chr9:108901492 [GRCh38]
Chr9:111663772 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2385C>T (p.Thr795=) single nucleotide variant not provided [RCV000979600] Chr9:108897264 [GRCh38]
Chr9:111659544 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3457C>T (p.Leu1153=) single nucleotide variant not provided [RCV000875560] Chr9:108880055 [GRCh38]
Chr9:111642335 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=) single nucleotide variant Familial dysautonomia [RCV001271565]|not provided [RCV000863751] Chr9:108880152 [GRCh38]
Chr9:111642432 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) single nucleotide variant Familial dysautonomia [RCV001169160]|not provided [RCV000863776] Chr9:108900364 [GRCh38]
Chr9:111662644 [GRCh37]
Chr9:9q31.3
benign|uncertain significance
NM_003640.5(ELP1):c.2931A>G (p.Leu977=) single nucleotide variant not provided [RCV000981431] Chr9:108893013 [GRCh38]
Chr9:111655293 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3639G>A (p.Leu1213=) single nucleotide variant not provided [RCV000979239] Chr9:108878684 [GRCh38]
Chr9:111640964 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1491T>C (p.Asp497=) single nucleotide variant Familial dysautonomia [RCV001830883]|not provided [RCV000865315] Chr9:108906455 [GRCh38]
Chr9:111668735 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3222+8C>T single nucleotide variant not provided [RCV000920455] Chr9:108889324 [GRCh38]
Chr9:111651604 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2523A>G (p.Thr841=) single nucleotide variant not provided [RCV000981576] Chr9:108897017 [GRCh38]
Chr9:111659297 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.579C>T (p.Asp193=) single nucleotide variant Familial dysautonomia [RCV001276638]|not provided [RCV000975861] Chr9:108919323 [GRCh38]
Chr9:111681603 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1128G>A (p.Thr376=) single nucleotide variant not provided [RCV000874141] Chr9:108912325 [GRCh38]
Chr9:111674605 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3951A>T (p.Pro1317=) single nucleotide variant not provided [RCV000943023] Chr9:108869163 [GRCh38]
Chr9:111631443 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1599A>G (p.Ala533=) single nucleotide variant Familial dysautonomia [RCV001830875]|not provided [RCV000864502] Chr9:108906347 [GRCh38]
Chr9:111668627 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) single nucleotide variant Familial dysautonomia [RCV001168404]|not provided [RCV000870786] Chr9:108894034 [GRCh38]
Chr9:111656314 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1263A>G (p.Pro421=) single nucleotide variant Familial dysautonomia [RCV001278722]|not provided [RCV000865438] Chr9:108911107 [GRCh38]
Chr9:111673387 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.3093C>G (p.Ala1031=) single nucleotide variant not provided [RCV000981295] Chr9:108891270 [GRCh38]
Chr9:111653550 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1444T>C (p.Leu482=) single nucleotide variant not provided [RCV000944173] Chr9:108908321 [GRCh38]
Chr9:111670601 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2205-7C>T single nucleotide variant Familial dysautonomia [RCV001274120]|not provided [RCV000875033] Chr9:108898756 [GRCh38]
Chr9:111661036 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.717A>C (p.Gly239=) single nucleotide variant Familial dysautonomia [RCV001169196]|not provided [RCV000875057] Chr9:108918834 [GRCh38]
Chr9:111681114 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.1644-13dup duplication not provided [RCV000863852] Chr9:108903674..108903675 [GRCh38]
Chr9:111665954..111665955 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3477C>T (p.His1159=) single nucleotide variant Familial dysautonomia [RCV001825748]|not provided [RCV000869760] Chr9:108879541 [GRCh38]
Chr9:111641821 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2424C>T (p.Ser808=) single nucleotide variant not provided [RCV000975775] Chr9:108897225 [GRCh38]
Chr9:111659505 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2818T>C (p.Leu940=) single nucleotide variant not provided [RCV000938189] Chr9:108893985 [GRCh38]
Chr9:111656265 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.2015-328G>A single nucleotide variant not provided [RCV000831176] Chr9:108900703 [GRCh38]
Chr9:111662983 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1360+293C>T single nucleotide variant not provided [RCV000831183] Chr9:108910717 [GRCh38]
Chr9:111672997 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser) single nucleotide variant Familial dysautonomia [RCV000802774]|not provided [RCV001316191] Chr9:108880058 [GRCh38]
Chr9:111642338 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3160+23T>C single nucleotide variant Familial dysautonomia [RCV001532859]|not provided [RCV000832721] Chr9:108891180 [GRCh38]
Chr9:111653460 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3856-54C>A single nucleotide variant Familial dysautonomia [RCV001532855]|not provided [RCV000832722] Chr9:108875024 [GRCh38]
Chr9:111637304 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.349del (p.Trp117fs) deletion Familial dysautonomia [RCV000802833]|not provided [RCV001383019] Chr9:108927408 [GRCh38]
Chr9:111689688 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.740+226A>G single nucleotide variant not provided [RCV000841824] Chr9:108918585 [GRCh38]
Chr9:111680865 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2737-179C>T single nucleotide variant not provided [RCV000841860] Chr9:108894245 [GRCh38]
Chr9:111656525 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.-56+101G>C single nucleotide variant not provided [RCV000841882] Chr9:108933763 [GRCh38]
Chr9:111696043 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2131-113T>G single nucleotide variant not provided [RCV000841884] Chr9:108900008 [GRCh38]
Chr9:111662288 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.304-220C>T single nucleotide variant not provided [RCV000841885] Chr9:108927673 [GRCh38]
Chr9:111689953 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2205-121C>T single nucleotide variant Familial dysautonomia [RCV001532860]|not provided [RCV000841886] Chr9:108898870 [GRCh38]
Chr9:111661150 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2363+159G>T single nucleotide variant not provided [RCV000841887] Chr9:108898343 [GRCh38]
Chr9:111660623 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2958+202T>C single nucleotide variant not provided [RCV000841888] Chr9:108892784 [GRCh38]
Chr9:111655064 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3932-185G>A single nucleotide variant not provided [RCV000841890] Chr9:108869367 [GRCh38]
Chr9:111631647 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1750+115C>G single nucleotide variant Familial dysautonomia [RCV001532862]|not provided [RCV000831749] Chr9:108903448 [GRCh38]
Chr9:111665728 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2363+70A>G single nucleotide variant not provided [RCV000835853] Chr9:108898432 [GRCh38]
Chr9:111660712 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3931+189G>A single nucleotide variant not provided [RCV000841929] Chr9:108874706 [GRCh38]
Chr9:111636986 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2958+1G>A single nucleotide variant not provided [RCV000823438] Chr9:108892985 [GRCh38]
Chr9:111655265 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.1047G>C (p.Leu349=) single nucleotide variant not provided [RCV000869495] Chr9:108912406 [GRCh38]
Chr9:111674686 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.243G>T (p.Glu81Asp) single nucleotide variant Familial dysautonomia [RCV001825561]|not provided [RCV000797629] Chr9:108929829 [GRCh38]
Chr9:111692109 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1486C>T (p.Gln496Ter) single nucleotide variant not provided [RCV000791631] Chr9:108906460 [GRCh38]
Chr9:111668740 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.959-44T>G single nucleotide variant not provided [RCV000829551] Chr9:108912538 [GRCh38]
Chr9:111674818 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1644-203G>A single nucleotide variant not provided [RCV000829552] Chr9:108903872 [GRCh38]
Chr9:111666152 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.3572+1G>A single nucleotide variant Familial dysautonomia [RCV000806459]|not provided [RCV001377355] Chr9:108879445 [GRCh38]
Chr9:111641725 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.778C>T (p.Pro260Ser) single nucleotide variant Familial dysautonomia [RCV000799924]|not provided [RCV001302908] Chr9:108917633 [GRCh38]
Chr9:111679913 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3194C>T (p.Ala1065Val) single nucleotide variant Familial dysautonomia [RCV000791589]|not provided [RCV001296600] Chr9:108889360 [GRCh38]
Chr9:111651640 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2015-72C>T single nucleotide variant not provided [RCV000832719] Chr9:108900447 [GRCh38]
Chr9:111662727 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.79C>A (p.Arg27=) single nucleotide variant not provided [RCV000819956] Chr9:108931068 [GRCh38]
Chr9:111693348 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr) single nucleotide variant Familial dysautonomia [RCV000791742]|not provided [RCV001338446] Chr9:108906333 [GRCh38]
Chr9:111668613 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1854+283G>T single nucleotide variant not provided [RCV000843806] Chr9:108902556 [GRCh38]
Chr9:111664836 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2736+304T>C single nucleotide variant not provided [RCV000843809] Chr9:108896192 [GRCh38]
Chr9:111658472 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2736+308A>G single nucleotide variant not provided [RCV000843810] Chr9:108896188 [GRCh38]
Chr9:111658468 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2860+291T>A single nucleotide variant not provided [RCV000843811] Chr9:108893652 [GRCh38]
Chr9:111655932 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp) single nucleotide variant Familial dysautonomia [RCV001274113]|not provided [RCV000811480] Chr9:108894006 [GRCh38]
Chr9:111656286 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.741-104TCAT[5] microsatellite not provided [RCV000835095] Chr9:108917758..108917759 [GRCh38]
Chr9:111680038..111680039 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3160+47A>T single nucleotide variant not provided [RCV000835096] Chr9:108891156 [GRCh38]
Chr9:111653436 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1854+3A>G single nucleotide variant Familial dysautonomia [RCV000820239]|not provided [RCV001369045] Chr9:108902836 [GRCh38]
Chr9:111665116 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2587+10C>T single nucleotide variant not provided [RCV000870121] Chr9:108896943 [GRCh38]
Chr9:111659223 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.703G>A (p.Glu235Lys) single nucleotide variant Familial dysautonomia [RCV000812404] Chr9:108918848 [GRCh38]
Chr9:111681128 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2629G>A (p.Ala877Thr) single nucleotide variant Familial dysautonomia [RCV001274115]|not provided [RCV000805892] Chr9:108896603 [GRCh38]
Chr9:111658883 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2321T>C (p.Ile774Thr) single nucleotide variant Familial dysautonomia [RCV000792738]|not provided [RCV001337986] Chr9:108898544 [GRCh38]
Chr9:111660824 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2005T>C (p.Ser669Pro) single nucleotide variant Familial dysautonomia [RCV001830694]|not provided [RCV000793147] Chr9:108901434 [GRCh38]
Chr9:111663714 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1060G>T (p.Val354Leu) single nucleotide variant Familial dysautonomia [RCV000795344]|not provided [RCV001856247] Chr9:108912393 [GRCh38]
Chr9:111674673 [GRCh37]
Chr9:9q31.3
uncertain significance
NC_000009.12:g.(?_108869105)_(108903679_?)del deletion Familial dysautonomia [RCV000812677]|not provided [RCV001379108] Chr9:108869105..108903679 [GRCh38]
Chr9:111631385..111665959 [GRCh37]
Chr9:9q31.3
likely pathogenic
NM_003640.5(ELP1):c.2035del (p.Ser679fs) deletion not provided [RCV000793731] Chr9:108900355 [GRCh38]
Chr9:111662635 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.1854+41C>T single nucleotide variant not provided [RCV000838514] Chr9:108902798 [GRCh38]
Chr9:111665078 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1309A>C (p.Asn437His) single nucleotide variant Familial dysautonomia [RCV000796780] Chr9:108911061 [GRCh38]
Chr9:111673341 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2588-11_2588-10insAC insertion not provided [RCV000841606] Chr9:108896654..108896655 [GRCh38]
Chr9:111658934..111658935 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.150+145A>G single nucleotide variant not provided [RCV000841821] Chr9:108930852 [GRCh38]
Chr9:111693132 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.958+56A>T single nucleotide variant Familial dysautonomia [RCV001532772]|not provided [RCV000841825] Chr9:108916148 [GRCh38]
Chr9:111678428 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.959-118C>T single nucleotide variant not provided [RCV000841828] Chr9:108912612 [GRCh38]
Chr9:111674892 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1360+153C>G single nucleotide variant not provided [RCV000841830] Chr9:108910857 [GRCh38]
Chr9:111673137 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1190-249C>T single nucleotide variant not provided [RCV000841831] Chr9:108911429 [GRCh38]
Chr9:111673709 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1361-140A>G single nucleotide variant not provided [RCV000841836] Chr9:108908544 [GRCh38]
Chr9:111670824 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1750+233C>G single nucleotide variant not provided [RCV000831750] Chr9:108903330 [GRCh38]
Chr9:111665610 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1461-121T>C single nucleotide variant not provided [RCV000841853] Chr9:108906606 [GRCh38]
Chr9:111668886 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3572+99G>A single nucleotide variant Familial dysautonomia [RCV001532856]|not provided [RCV000841861] Chr9:108879347 [GRCh38]
Chr9:111641627 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1855-160A>G single nucleotide variant not provided [RCV000841862] Chr9:108901841 [GRCh38]
Chr9:111664121 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3572+199C>T single nucleotide variant not provided [RCV000841864] Chr9:108879247 [GRCh38]
Chr9:111641527 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3700+236G>A single nucleotide variant not provided [RCV000841865] Chr9:108878387 [GRCh38]
Chr9:111640667 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2131-175C>T single nucleotide variant not provided [RCV000841866] Chr9:108900070 [GRCh38]
Chr9:111662350 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3222+113A>G single nucleotide variant Familial dysautonomia [RCV001532858]|not provided [RCV000841891] Chr9:108889219 [GRCh38]
Chr9:111651499 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3222+205T>G single nucleotide variant not provided [RCV000841892] Chr9:108889127 [GRCh38]
Chr9:111651407 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1460+72A>G single nucleotide variant Familial dysautonomia [RCV001532770]|not provided [RCV000841893] Chr9:108908233 [GRCh38]
Chr9:111670513 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3222+115A>G single nucleotide variant Familial dysautonomia [RCV001532857]|not provided [RCV000841895] Chr9:108889217 [GRCh38]
Chr9:111651497 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3346+110C>T single nucleotide variant not provided [RCV000841914] Chr9:108881595 [GRCh38]
Chr9:111643875 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1855-217A>G single nucleotide variant not provided [RCV000841916] Chr9:108901898 [GRCh38]
Chr9:111664178 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3701-166T>C single nucleotide variant not provided [RCV000841922] Chr9:108878315 [GRCh38]
Chr9:111640595 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3701-124A>C single nucleotide variant not provided [RCV000841923] Chr9:108878273 [GRCh38]
Chr9:111640553 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3856-221C>A single nucleotide variant not provided [RCV000841927] Chr9:108875191 [GRCh38]
Chr9:111637471 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2205-197C>T single nucleotide variant not provided [RCV000842019] Chr9:108898946 [GRCh38]
Chr9:111661226 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.2336A>G (p.His779Arg) single nucleotide variant Familial dysautonomia [RCV001274118]|not provided [RCV000823468] Chr9:108898529 [GRCh38]
Chr9:111660809 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile) single nucleotide variant Familial dysautonomia [RCV001825674]|not provided [RCV000824305] Chr9:108917594 [GRCh38]
Chr9:111679874 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2015-71G>A single nucleotide variant not provided [RCV000833348] Chr9:108900446 [GRCh38]
Chr9:111662726 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3856-82G>C single nucleotide variant not provided [RCV000829688] Chr9:108875052 [GRCh38]
Chr9:111637332 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.-115A>T single nucleotide variant Familial dysautonomia [RCV001166807] Chr9:108933923 [GRCh38]
Chr9:111696203 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1361-23A>G single nucleotide variant Familial dysautonomia [RCV001532771]|not provided [RCV000829687] Chr9:108908427 [GRCh38]
Chr9:111670707 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3856-81G>T single nucleotide variant not provided [RCV000829689] Chr9:108875051 [GRCh38]
Chr9:111637331 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3461-78_3461-75del microsatellite not provided [RCV000841917] Chr9:108879632..108879635 [GRCh38]
Chr9:111641912..111641915 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.1043C>T (p.Ser348Phe) single nucleotide variant Familial dysautonomia [RCV001274633]|not provided [RCV000810073] Chr9:108912410 [GRCh38]
Chr9:111674690 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2378C>T (p.Thr793Met) single nucleotide variant Familial dysautonomia [RCV000795644]|not provided [RCV001873238] Chr9:108897271 [GRCh38]
Chr9:111659551 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2786C>G (p.Thr929Ser) single nucleotide variant Familial dysautonomia [RCV001274114]|not provided [RCV000806494] Chr9:108894017 [GRCh38]
Chr9:111656297 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1291A>G single nucleotide variant Familial dysautonomia [RCV001168279] Chr9:108867824 [GRCh38]
Chr9:111630104 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg) single nucleotide variant Familial dysautonomia [RCV001275742]|not provided [RCV000807672] Chr9:108879540 [GRCh38]
Chr9:111641820 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*569T>C single nucleotide variant Familial dysautonomia [RCV001166602] Chr9:108868546 [GRCh38]
Chr9:111630826 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-179G>C single nucleotide variant Familial dysautonomia [RCV001168516] Chr9:108933987 [GRCh38]
Chr9:111696267 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*806A>C single nucleotide variant Familial dysautonomia [RCV001166114] Chr9:108868309 [GRCh38]
Chr9:111630589 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg) single nucleotide variant Familial dysautonomia [RCV000794350]|not provided [RCV001358791] Chr9:108898711 [GRCh38]
Chr9:111660991 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1428G>T single nucleotide variant Familial dysautonomia [RCV001166536] Chr9:108867687 [GRCh38]
Chr9:111629967 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1412T>A single nucleotide variant Familial dysautonomia [RCV001166537] Chr9:108867703 [GRCh38]
Chr9:111629983 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*344A>G single nucleotide variant Familial dysautonomia [RCV001166603] Chr9:108868771 [GRCh38]
Chr9:111631051 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.*1194C>T single nucleotide variant Familial dysautonomia [RCV001169018] Chr9:108867921 [GRCh38]
Chr9:111630201 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2861-12T>G single nucleotide variant Familial dysautonomia [RCV001166668] Chr9:108893095 [GRCh38]
Chr9:111655375 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1390A>C (p.Lys464Gln) single nucleotide variant Familial dysautonomia [RCV001166748] Chr9:108908375 [GRCh38]
Chr9:111670655 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.628A>G (p.Ser210Gly) single nucleotide variant Familial dysautonomia [RCV001274638]|not provided [RCV000805100] Chr9:108919274 [GRCh38]
Chr9:111681554 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.273C>T (p.Asp91=) single nucleotide variant Familial dysautonomia [RCV001276644]|not provided [RCV000860637] Chr9:108929799 [GRCh38]
Chr9:111692079 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.424C>T (p.Pro142Ser) single nucleotide variant Familial dysautonomia [RCV001830729]|not provided [RCV000802027] Chr9:108926565 [GRCh38]
Chr9:111688845 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2588-39A>C single nucleotide variant not provided [RCV000833497] Chr9:108896683 [GRCh38]
Chr9:111658963 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln) single nucleotide variant Familial dysautonomia [RCV000816184]|not provided [RCV001772113] Chr9:108919300 [GRCh38]
Chr9:111681580 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2006C>A (p.Ser669Ter) single nucleotide variant Familial dysautonomia [RCV000822782]|not provided [RCV001383399] Chr9:108901433 [GRCh38]
Chr9:111663713 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.3700+6T>G single nucleotide variant Familial dysautonomia [RCV001271562]|not provided [RCV000819665] Chr9:108878617 [GRCh38]
Chr9:111640897 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.-31G>C single nucleotide variant Familial dysautonomia [RCV001271223]|not provided [RCV000831513] Chr9:108931177 [GRCh38]
Chr9:111693457 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.958+7C>T single nucleotide variant not provided [RCV000875139] Chr9:108916197 [GRCh38]
Chr9:111678477 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.552+133A>G single nucleotide variant not provided [RCV000841823] Chr9:108922709 [GRCh38]
Chr9:111684989 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3701-202G>A single nucleotide variant not provided [RCV000841920] Chr9:108878351 [GRCh38]
Chr9:111640631 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.3701-95C>G single nucleotide variant not provided [RCV000841924] Chr9:108878244 [GRCh38]
Chr9:111640524 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.674_678del (p.Asn225fs) deletion not provided [RCV000793111] Chr9:108918873..108918877 [GRCh38]
Chr9:111681153..111681157 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.2588-97A>G single nucleotide variant not provided [RCV000832720] Chr9:108896741 [GRCh38]
Chr9:111659021 [GRCh37]
Chr9:9q31.3
benign
NM_003640.5(ELP1):c.552+215G>A single nucleotide variant not provided [RCV000839507] Chr9:108922627 [GRCh38]
Chr9:111684907 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.*1406A>G single nucleotide variant Familial dysautonomia [RCV001168278] Chr9:108867709 [GRCh38]
Chr9:111629989 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser) single nucleotide variant Familial dysautonomia [RCV001827349]|not provided [RCV001054856] Chr9:108898696 [GRCh38]
Chr9:111660976 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter) single nucleotide variant not provided [RCV001052645] Chr9:108893979 [GRCh38]
Chr9:111656259 [GRCh37]
Chr9:9q31.3
pathogenic
GRCh37/hg19 9q31.3(chr9:111640523-112087673)x3 copy number gain not provided [RCV000846700] Chr9:111640523..112087673 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys) single nucleotide variant Familial dysautonomia [RCV001271218]|not provided [RCV000869982] Chr9:108919285 [GRCh38]
Chr9:111681565 [GRCh37]
Chr9:9q31.3
likely benign
NM_003640.5(ELP1):c.1360+10A>G single nucleotide variant Familial dysautonomia [RCV001027950]|not provided [RCV001482300] Chr9:108911000 [GRCh38]
Chr9:111673280 [GRCh37]
Chr9:9q31.3
likely benign|uncertain significance
NM_003640.5(ELP1):c.2495C>T (p.Pro832Leu) single nucleotide variant Familial dysautonomia [RCV001277386]|not provided [RCV001246444] Chr9:108897154 [GRCh38]
Chr9:111659434 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1408G>A (p.Gly470Arg) single nucleotide variant not provided [RCV001059966] Chr9:108908357 [GRCh38]
Chr9:111670637 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1139G>C (p.Ser380Thr) single nucleotide variant Familial dysautonomia [RCV001832541]|not provided [RCV001060532] Chr9:108912314 [GRCh38]
Chr9:111674594 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His) single nucleotide variant Familial dysautonomia [RCV001830013]|not provided [RCV001247403] Chr9:108874923 [GRCh38]
Chr9:111637203 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1187G>C (p.Gly396Ala) single nucleotide variant not provided [RCV001242474] Chr9:108912266 [GRCh38]
Chr9:111674546 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.2675A>G (p.Asp892Gly) single nucleotide variant Familial dysautonomia [RCV001563852]|not provided [RCV001224059] Chr9:108896557 [GRCh38]
Chr9:111658837 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3222+4A>T single nucleotide variant Familial dysautonomia [RCV001828907]|not provided [RCV001238921] Chr9:108889328 [GRCh38]
Chr9:111651608 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs) microsatellite not provided [RCV001224188] Chr9:108878016..108878019 [GRCh38]
Chr9:111640296..111640299 [GRCh37]
Chr9:9q31.3
pathogenic
NM_003640.5(ELP1):c.864+6T>C single nucleotide variant Familial dysautonomia [RCV001828788]|not provided [RCV001224195] Chr9:108917541 [GRCh38]
Chr9:111679821 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.1555C>T (p.His519Tyr) single nucleotide variant not provided [RCV001240671] Chr9:108906391 [GRCh38]
Chr9:111668671 [GRCh37]
Chr9:9q31.3
uncertain significance
NM_003640.5(ELP1):c.656G>A (p.Arg219Gln) single nucleotide variant Familial dysautonomia [