SALL4 (spalt like transcription factor 4) - Rat Genome Database

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Gene: SALL4 (spalt like transcription factor 4) Homo sapiens
Analyze
Symbol: SALL4
Name: spalt like transcription factor 4
RGD ID: 1351271
HGNC Page HGNC:15924
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including chordate embryonic development; regulation of transcription by RNA polymerase II; and ventricular septum development. Located in nucleoplasm. Implicated in Duane retraction syndrome; Duane-radial ray syndrome; Holt-Oram syndrome; IVIC syndrome; and ventricular septal defect. Biomarker of endodermal sinus tumor; hepatoblastoma; and ovarian germ cell cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ1112F19.1; DRRS; HSAL4; IVIC; MGC133050; sal-like protein 4; spalt-like transcription factor 4; zinc finger protein 797; zinc finger protein SALL4; ZNF797
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC245505.2   SALL4P1   SALL4P2   SALL4P3   SALL4P4   SALL4P5   SALL4P6   SALL4P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382051,782,331 - 51,802,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2051,782,331 - 51,802,521 (-)EnsemblGRCh38hg38GRCh38
GRCh372050,398,870 - 50,419,060 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362049,833,988 - 49,852,421 (-)NCBINCBI36Build 36hg18NCBI36
Build 342049,833,991 - 49,852,421NCBI
Celera2047,105,283 - 47,123,757 (-)NCBICelera
Cytogenetic Map20q13.2NCBI
HuRef2047,147,931 - 47,166,405 (-)NCBIHuRef
CHM1_12050,305,475 - 50,323,937 (-)NCBICHM1_1
T2T-CHM13v2.02053,553,791 - 53,573,978 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal morphology of the radius  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormal vertebral segmentation and fusion  (IAGP)
Abnormality of eye movement  (IAGP)
Absent radius  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Anal stenosis  (IAGP)
Aniridia  (IAGP)
Anorectal anomaly  (IAGP)
Anteverted nares  (IAGP)
Aplasia of metacarpal bones  (IAGP)
Aplasia/hypoplasia involving bones of the upper limbs  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Aplastic clavicle  (IAGP)
Arrhythmia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blepharospasm  (IAGP)
Brachydactyly  (IAGP)
Broad hallux phalanx  (IAGP)
Camptodactyly  (IAGP)
Carpal bone hypoplasia  (IAGP)
Carpal synostosis  (IAGP)
Cataract  (IAGP)
Central heterochromia  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft palate  (IAGP)
Coloboma  (IAGP)
Compensatory head posture  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Crossed fused renal ectopia  (IAGP)
Deeply set eye  (IAGP)
Duane anomaly  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
External ophthalmoplegia  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Fused cervical vertebrae  (IAGP)
Global developmental delay  (IAGP)
Gustatory lacrimation  (IAGP)
Hearing impairment  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hypertelorism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of deltoid muscle  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic iris stroma  (IAGP)
Impaired convergence  (IAGP)
Impaired ocular abduction  (IAGP)
Impaired ocular adduction  (IAGP)
Intestinal malrotation  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Joint stiffness  (IAGP)
Leukocytosis  (IAGP)
Limited elbow movement  (IAGP)
Limited interphalangeal movement  (IAGP)
Limited wrist movement  (IAGP)
Low posterior hairline  (IAGP)
Marcus Gunn jaw winking synkinesis  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Narrow internal auditory canal  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Oculomotor nerve palsy  (IAGP)
Optic disc coloboma  (IAGP)
Optic disc hypoplasia  (IAGP)
Palpebral fissure narrowing on adduction  (IAGP)
Paroxysmal tonic upgaze  (IAGP)
Patchy hypopigmentation of hair  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectoralis hypoplasia  (IAGP)
Pectoralis major hypoplasia  (IAGP)
Pes planus  (IAGP)
Plagiocephaly  (IAGP)
Postnatal growth retardation  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial hand polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Ptosis  (IAGP)
Radial club hand  (IAGP)
Radial deviation of the hand  (IAGP)
Radioulnar synostosis  (IAGP)
Rectovaginal fistula  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal malrotation  (IAGP)
Retinal coloboma  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short 1st metacarpal  (IAGP)
Short clavicles  (IAGP)
Short distal phalanx of the thumb  (IAGP)
Short femur  (IAGP)
Short hallux  (IAGP)
Short humerus  (IAGP)
Short neck  (IAGP)
Short palpebral fissure  (IAGP)
Short thumb  (IAGP)
Shoulder dislocation  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slit-like opening of the exterior auditory meatus  (IAGP)
Small thenar eminence  (IAGP)
Spina bifida occulta  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Synostosis of carpal bones  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Triphalangeal thumb  (IAGP)
Upper limb muscle hypoplasia  (IAGP)
Upper limb undergrowth  (IAGP)
Vascular dilatation  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Al-Baradie R, etal., Am J Hum Genet. 2002 Nov;71(5):1195-9. Epub 2002 Oct 22.
2. Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Alves LU, etal., Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11.
3. Sall1, sall2, and sall4 are required for neural tube closure in mice. Bohm J, etal., Am J Pathol. 2008 Nov;173(5):1455-63. doi: 10.2353/ajpath.2008.071039. Epub 2008 Sep 25.
4. SALL4 is a novel diagnostic marker for testicular germ cell tumors. Cao D, etal., Am J Surg Pathol. 2009 Jul;33(7):1065-77. doi: 10.1097/PAS.0b013e3181a13eef.
5. SALL4 is a novel sensitive and specific marker of ovarian primitive germ cell tumors and is particularly useful in distinguishing yolk sac tumor from clear cell carcinoma. Cao D, etal., Am J Surg Pathol. 2009 Jun;33(6):894-904. doi: 10.1097/PAS.0b013e318198177d.
6. SALL4 is a marker of the embryonal subtype of hepatoblastoma. Gnemmi V, etal., Histopathology. 2013 Sep;63(3):425-8. doi: 10.1111/his.12187. Epub 2013 Jul 3.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Immunohistochemical expression of SALL4 in hepatocellular carcinoma, a potential pitfall in the differential diagnosis of yolk sac tumors. Gonzalez-Roibon N, etal., Hum Pathol. 2013 Jul;44(7):1293-9. doi: 10.1016/j.humpath.2012.10.017. Epub 2013 Jan 21.
9. Okihiro syndrome is caused by SALL4 mutations. Kohlhase J, etal., Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
10. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. Kohlhase J, etal., J Med Genet. 2003 Jul;40(7):473-8.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Sakaki-Yumoto M, etal., Development. 2006 Aug;133(15):3005-13. doi: 10.1242/dev.02457. Epub 2006 Jun 21.
16. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Terhal P, etal., Am J Med Genet A. 2006 Feb 1;140(3):222-6.
17. Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. Wang B, etal., Int J Cardiol. 2010 Nov 19;145(2):224-6. doi: 10.1016/j.ijcard.2009.05.067. Epub 2009 Jul 19.
18. A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. Warren M, etal., Genesis. 2007 Jan;45(1):51-8.
19. Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. Yang MM, etal., Mol Vis. 2013 May 6;19:986-94. Print 2013.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15146197   PMID:15286162   PMID:15329836   PMID:15342710   PMID:15386473   PMID:15489334   PMID:16086360   PMID:16344560   PMID:16402211   PMID:16545361  
PMID:16763212   PMID:17256792   PMID:17546590   PMID:17557835   PMID:17623483   PMID:18299846   PMID:18414659   PMID:18487508   PMID:18519826   PMID:19060217   PMID:19099625   PMID:19151334  
PMID:19247946   PMID:19322201   PMID:19440552   PMID:19476507   PMID:19478329   PMID:19574883   PMID:19581335   PMID:19781444   PMID:19820689   PMID:20182341   PMID:20301369   PMID:20301547  
PMID:20505821   PMID:20634891   PMID:21057460   PMID:21258884   PMID:21274508   PMID:21405998   PMID:21417895   PMID:21468036   PMID:21526180   PMID:21725617   PMID:21873635   PMID:21914818  
PMID:22128185   PMID:22448662   PMID:22516245   PMID:22555391   PMID:22743134   PMID:22832114   PMID:22934838   PMID:23012367   PMID:23112162   PMID:23122807   PMID:23201546   PMID:23287862  
PMID:23363002   PMID:23432194   PMID:23758232   PMID:23811124   PMID:23954296   PMID:24012616   PMID:24051379   PMID:24276240   PMID:24283704   PMID:24336327   PMID:24463278   PMID:24486774  
PMID:24525512   PMID:24626181   PMID:24659265   PMID:24805857   PMID:24827994   PMID:24860834   PMID:25156818   PMID:25158072   PMID:25246269   PMID:25359397   PMID:25436325   PMID:25479928  
PMID:25646965   PMID:25737450   PMID:25823593   PMID:25906119   PMID:25919570   PMID:26238082   PMID:26267070   PMID:26317546   PMID:26496610   PMID:26617716   PMID:26687479   PMID:26750614  
PMID:26779651   PMID:26818834   PMID:26892498   PMID:26973422   PMID:27007163   PMID:27068524   PMID:27132514   PMID:27252091   PMID:27323021   PMID:27329034   PMID:27576349   PMID:27634302  
PMID:27661448   PMID:27677076   PMID:27748823   PMID:27773610   PMID:27797380   PMID:27938503   PMID:27983924   PMID:28103766   PMID:28122538   PMID:28272224   PMID:28411180   PMID:28582841  
PMID:28639477   PMID:28759035   PMID:28849223   PMID:28869451   PMID:28887597   PMID:29263092   PMID:29356399   PMID:29511085   PMID:29593314   PMID:29958885   PMID:30190590   PMID:30385546  
PMID:30423818   PMID:30431698   PMID:30520112   PMID:30552424   PMID:30588199   PMID:30603774   PMID:30638095   PMID:31009138   PMID:31210317   PMID:31336010   PMID:31388035   PMID:31552409  
PMID:31653163   PMID:31816404   PMID:31864704   PMID:31880869   PMID:32071327   PMID:32098783   PMID:32187420   PMID:32240499   PMID:32251415   PMID:32320856   PMID:32386479   PMID:32391793  
PMID:32393512   PMID:32468053   PMID:32513235   PMID:32719361   PMID:32835442   PMID:32929090   PMID:32948804   PMID:33005030   PMID:33283408   PMID:33308020   PMID:33406418   PMID:33470442  
PMID:33961781   PMID:34050851   PMID:34106411   PMID:34417458   PMID:34732693   PMID:34782707   PMID:35033873   PMID:35090523   PMID:35179219   PMID:35182466   PMID:35284980   PMID:35692499  
PMID:36285444   PMID:36362083   PMID:36575044   PMID:36587397   PMID:36635047   PMID:36701892   PMID:36731037   PMID:36877334   PMID:37119046   PMID:37611564   PMID:37660281   PMID:38062245  
PMID:38584262  


Genomics

Comparative Map Data
SALL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382051,782,331 - 51,802,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2051,782,331 - 51,802,521 (-)EnsemblGRCh38hg38GRCh38
GRCh372050,398,870 - 50,419,060 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362049,833,988 - 49,852,421 (-)NCBINCBI36Build 36hg18NCBI36
Build 342049,833,991 - 49,852,421NCBI
Celera2047,105,283 - 47,123,757 (-)NCBICelera
Cytogenetic Map20q13.2NCBI
HuRef2047,147,931 - 47,166,405 (-)NCBIHuRef
CHM1_12050,305,475 - 50,323,937 (-)NCBICHM1_1
T2T-CHM13v2.02053,553,791 - 53,573,978 (-)NCBIT2T-CHM13v2.0
Sall4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392168,590,252 - 168,609,121 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2168,590,252 - 168,609,863 (-)EnsemblGRCm39 Ensembl
GRCm382168,748,332 - 168,767,201 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2168,748,332 - 168,767,943 (-)EnsemblGRCm38mm10GRCm38
MGSCv372168,573,832 - 168,592,701 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362168,440,991 - 168,458,333 (-)NCBIMGSCv36mm8
Celera2174,694,286 - 174,713,507 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map288.99NCBI
Sall4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83177,891,705 - 177,909,743 (-)NCBIGRCr8
mRatBN7.23157,474,067 - 157,491,055 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3157,474,642 - 157,490,822 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.03165,520,155 - 165,538,176 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3165,520,392 - 165,537,940 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03171,656,504 - 171,674,423 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera3156,038,840 - 156,055,436 (-)NCBICelera
Cytogenetic Map3q42NCBI
Sall4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554456,824,770 - 6,842,187 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554456,824,797 - 6,841,141 (+)NCBIChiLan1.0ChiLan1.0
SALL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22157,535,985 - 57,556,278 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12057,529,106 - 57,549,399 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02048,130,387 - 48,150,569 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12049,252,320 - 49,272,973 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2049,254,039 - 49,273,589 (-)Ensemblpanpan1.1panPan2
SALL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12437,941,498 - 37,959,713 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2437,940,034 - 38,037,287 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2437,180,959 - 37,200,584 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02438,651,355 - 38,669,523 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2438,649,920 - 38,749,658 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12437,887,041 - 37,905,946 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02438,020,086 - 38,039,234 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02438,565,716 - 38,585,336 (-)NCBIUU_Cfam_GSD_1.0
Sall4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640187,831,936 - 187,849,998 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365143,285,531 - 3,303,644 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365143,285,778 - 3,302,179 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SALL4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1753,084,310 - 53,103,190 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11753,082,610 - 53,103,023 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21759,526,086 - 59,533,416 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SALL4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1212,179,721 - 12,199,629 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl212,182,357 - 12,199,321 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605060,576,222 - 60,593,578 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sall4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247904,162,454 - 4,170,923 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247904,153,157 - 4,170,813 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SALL4
475 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020436.5(SALL4):c.1954C>T (p.Gln652Ter) single nucleotide variant Duane-radial ray syndrome [RCV000003482] Chr20:51790529 [GRCh38]
Chr20:50407068 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1054del (p.Ala352fs) deletion Duane-radial ray syndrome [RCV000003483] Chr20:51791429 [GRCh38]
Chr20:50407968 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.941dup (p.Leu315fs) duplication Duane-radial ray syndrome [RCV000003484] Chr20:51791541..51791542 [GRCh38]
Chr20:50408080..50408081 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1904del (p.Phe635fs) deletion Duane-radial ray syndrome [RCV000003485] Chr20:51790579 [GRCh38]
Chr20:50407118 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2593C>T (p.Arg865Ter) single nucleotide variant Duane-radial ray syndrome [RCV000003486]|not provided [RCV001553330] Chr20:51789010 [GRCh38]
Chr20:50405549 [GRCh37]
Chr20:20q13.2		 pathogenic|likely pathogenic
NM_020436.5(SALL4):c.2425del (p.Ala809fs) deletion Duane-radial ray syndrome [RCV000003487] Chr20:51790058 [GRCh38]
Chr20:50406597 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.326del (p.Pro109fs) deletion Duane-radial ray syndrome [RCV000003488] Chr20:51792157 [GRCh38]
Chr20:50408696 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.523A>T (p.Lys175Ter) single nucleotide variant Duane-radial ray syndrome [RCV000003489] Chr20:51791960 [GRCh38]
Chr20:50408499 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) single nucleotide variant Duane-radial ray syndrome [RCV000003490] Chr20:51790634 [GRCh38]
Chr20:50407173 [GRCh37]
Chr20:20q13.2		 pathogenic
NC_000020.11:g.(51758515_51770114)_(51894383_?)del deletion Duane-radial ray syndrome [RCV000003491] Chr20:51770114..51894383 [GRCh38]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) single nucleotide variant Duane-radial ray syndrome [RCV000003492]|not provided [RCV002464057] Chr20:51788890 [GRCh38]
Chr20:50405429 [GRCh37]
Chr20:20q13.2		 pathogenic|likely pathogenic
NM_020436.5(SALL4):c.2663A>G (p.His888Arg) single nucleotide variant Duane-radial ray syndrome [RCV000003493] Chr20:51788940 [GRCh38]
Chr20:50405479 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2607del (p.Gln869fs) deletion Oculootoradial syndrome [RCV000003494] Chr20:51788996 [GRCh38]
Chr20:50405535 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) single nucleotide variant Duane-radial ray syndrome [RCV000959428]|Duane-radial ray syndrome [RCV002500481]|not specified [RCV000175923] Chr20:51790704 [GRCh38]
Chr20:50407243 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2591_2592delinsTT (p.Arg864Leu) indel not provided [RCV000722256] Chr20:51789011..51789012 [GRCh38]
Chr20:50405550..50405551 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3 copy number gain See cases [RCV000053037] Chr20:49947237..55875406 [GRCh38]
Chr20:48563774..54450462 [GRCh37]
Chr20:47997181..53883869 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
NM_020436.3(SALL4):c.1275C>T (p.Leu425=) single nucleotide variant Malignant melanoma [RCV000072696] Chr20:51791208 [GRCh38]
Chr20:50407747 [GRCh37]
Chr20:49841154 [NCBI36]
Chr20:20q13.2		 not provided
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) single nucleotide variant Duane-radial ray syndrome [RCV000870974]|not specified [RCV000175920] Chr20:51790193 [GRCh38]
Chr20:50406732 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) single nucleotide variant Duane-radial ray syndrome [RCV000945736]|Duane-radial ray syndrome [RCV002492753]|not specified [RCV000175922] Chr20:51791130 [GRCh38]
Chr20:50407669 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) single nucleotide variant Duane-radial ray syndrome [RCV000959429]|Duane-radial ray syndrome [RCV002492754]|not specified [RCV000175924] Chr20:51790986 [GRCh38]
Chr20:50407525 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) single nucleotide variant Duane-radial ray syndrome [RCV001078821]|SALL4-related disorder [RCV004537391]|not provided [RCV000433571]|not specified [RCV000175925] Chr20:51790268 [GRCh38]
Chr20:50406807 [GRCh37]
Chr20:20q13.2		 benign|likely benign
GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1 copy number loss See cases [RCV000137265] Chr20:50781990..52792847 [GRCh38]
Chr20:49398527..51409386 [GRCh37]
Chr20:48831934..50842793 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) single nucleotide variant Duane-radial ray syndrome [RCV002054073]|not provided [RCV000175921] Chr20:51790107 [GRCh38]
Chr20:50406646 [GRCh37]
Chr20:20q13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
NM_020436.5(SALL4):c.1253G>A (p.Arg418His) single nucleotide variant not specified [RCV000202915] Chr20:51791230 [GRCh38]
Chr20:50407769 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.3(SALL4):c.-1846T>C single nucleotide variant Lung cancer [RCV000101649] Chr20:51804254 [GRCh38]
Chr20:50420793 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) single nucleotide variant Duane-radial ray syndrome [RCV002517727]|not provided [RCV000178324] Chr20:51784450 [GRCh38]
Chr20:50400989 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.496dup (p.Gln166fs) duplication Duane-radial ray syndrome [RCV000192030] Chr20:51791986..51791987 [GRCh38]
Chr20:50408525..50408526 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2849C>A (p.Ser950Ter) single nucleotide variant Duane-radial ray syndrome [RCV004821167] Chr20:51784578 [GRCh38]
Chr20:50401117 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.410dup (p.Gly138fs) duplication Duane-radial ray syndrome [RCV000239600] Chr20:51792072..51792073 [GRCh38]
Chr20:50408611..50408612 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) single nucleotide variant Duane-radial ray syndrome [RCV001510814]|not provided [RCV001711726]|not specified [RCV000248481] Chr20:51788963 [GRCh38]
Chr20:50405502 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.645C>G (p.Leu215=) single nucleotide variant Duane-radial ray syndrome [RCV000544162]|not provided [RCV001660342]|not specified [RCV000243827] Chr20:51791838 [GRCh38]
Chr20:50408377 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1104G>A (p.Ala368=) single nucleotide variant not provided [RCV000405819] Chr20:51791379 [GRCh38]
Chr20:50407918 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.702G>A (p.Gln234=) single nucleotide variant Duane-radial ray syndrome [RCV001078530]|not provided [RCV000730809] Chr20:51791781 [GRCh38]
Chr20:50408320 [GRCh37]
Chr20:20q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) single nucleotide variant Duane-radial ray syndrome [RCV000545087]|not provided [RCV001651317]|not specified [RCV000381619] Chr20:51790301 [GRCh38]
Chr20:50406840 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.24A>G (p.Lys8=) single nucleotide variant Duane-radial ray syndrome [RCV001078616]|not provided [RCV000358874] Chr20:51802385 [GRCh38]
Chr20:50418924 [GRCh37]
Chr20:20q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.-7T>G single nucleotide variant not provided [RCV000278056] Chr20:51802415 [GRCh38]
Chr20:50418954 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.*211dup duplication not provided [RCV001719579] Chr20:51784053..51784054 [GRCh38]
Chr20:50400592..50400593 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2932G>A (p.Gly978Ser) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000276239] Chr20:51784495 [GRCh38]
Chr20:50401034 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) microsatellite Duane-radial ray syndrome [RCV000878369]|not provided [RCV001555532]|not specified [RCV000288310] Chr20:51790424..51790426 [GRCh38]
Chr20:50406963..50406965 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.408T>C (p.Asn136=) single nucleotide variant Duane-radial ray syndrome [RCV000864319]|not provided [RCV001613110] Chr20:51792075 [GRCh38]
Chr20:50408614 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) single nucleotide variant Duane-radial ray syndrome [RCV002521965]|SALL4-related disorder [RCV004543096]|not provided [RCV000289887] Chr20:51790853 [GRCh38]
Chr20:50407392 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr) single nucleotide variant Duane-radial ray syndrome [RCV001731802]|SALL4-related disorder [RCV004543342]|not provided [RCV000593580] Chr20:51790442 [GRCh38]
Chr20:50406981 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1226C>G (p.Pro409Arg) single nucleotide variant Duane-radial ray syndrome [RCV005027898]|not provided [RCV000728425] Chr20:51791257 [GRCh38]
Chr20:50407796 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) single nucleotide variant Duane-radial ray syndrome [RCV001087498]|Inborn genetic diseases [RCV002536438]|not provided [RCV000730045] Chr20:51790612 [GRCh38]
Chr20:50407151 [GRCh37]
Chr20:20q13.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.2277G>C (p.Leu759Phe) single nucleotide variant Inborn genetic diseases [RCV004958070]|not provided [RCV000733670] Chr20:51790206 [GRCh38]
Chr20:50406745 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2447G>A (p.Arg816His) single nucleotide variant Duane-radial ray syndrome [RCV002485853]|Duane-radial ray syndrome [RCV005092130]|Inborn genetic diseases [RCV004958061]|not provided [RCV000728070] Chr20:51790036 [GRCh38]
Chr20:50406575 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.677T>C (p.Leu226Pro) single nucleotide variant not provided [RCV000482612] Chr20:51791806 [GRCh38]
Chr20:50408345 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1 copy number loss See cases [RCV000511555] Chr20:47627844..52045480 [GRCh37]
Chr20:20q13.13-13.2		 pathogenic
NM_020436.5(SALL4):c.1019G>A (p.Gly340Asp) single nucleotide variant not provided [RCV000494370] Chr20:51791464 [GRCh38]
Chr20:50408003 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1375del (p.Leu459fs) deletion not provided [RCV000494390] Chr20:51791108 [GRCh38]
Chr20:50407647 [GRCh37]
Chr20:20q13.2		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020436.5(SALL4):c.563del (p.Gly188fs) deletion Duane-radial ray syndrome [RCV000529255] Chr20:51791920 [GRCh38]
Chr20:50408459 [GRCh37]
Chr20:20q13.2		 pathogenic
Single allele duplication not provided [RCV000677941] Chr20:46962638..50647699 [GRCh37]
Chr20:20q13.13-13.2		 uncertain significance
NM_020436.5(SALL4):c.827dup (p.Ser276fs) duplication Duane-radial ray syndrome [RCV000693201] Chr20:51791655..51791656 [GRCh38]
Chr20:50408194..50408195 [GRCh37]
Chr20:20q13.2		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020436.5(SALL4):c.2742+209C>G single nucleotide variant not provided [RCV001640799] Chr20:51788652 [GRCh38]
Chr20:50405191 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.612C>G (p.Pro204=) single nucleotide variant not provided [RCV000982979] Chr20:51791871 [GRCh38]
Chr20:50408410 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.42G>C (p.Ser14=) single nucleotide variant Duane-radial ray syndrome [RCV002505440]|not provided [RCV000960413] Chr20:51802367 [GRCh38]
Chr20:50418906 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1414_1420del (p.Leu472fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV004813322] Chr20:51791063..51791069 [GRCh38]
Chr20:50407602..50407608 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.262C>T (p.Leu88=) single nucleotide variant Duane-radial ray syndrome [RCV002505363]|not provided [RCV000920766] Chr20:51792221 [GRCh38]
Chr20:50408760 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2337C>T (p.Ile779=) single nucleotide variant not provided [RCV000960653] Chr20:51790146 [GRCh38]
Chr20:50406685 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1260C>G (p.Thr420=) single nucleotide variant not provided [RCV000918878]|not specified [RCV004526049] Chr20:51791223 [GRCh38]
Chr20:50407762 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2649C>T (p.Ser883=) single nucleotide variant Duane-radial ray syndrome [RCV002540189] Chr20:51788954 [GRCh38]
Chr20:50405493 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2991C>T (p.Thr997=) single nucleotide variant not provided [RCV000915641] Chr20:51784436 [GRCh38]
Chr20:50400975 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1890C>A (p.Ile630=) single nucleotide variant not provided [RCV000827009] Chr20:51790593 [GRCh38]
Chr20:50407132 [GRCh37]
Chr20:20q13.2		 likely benign
NC_000020.11:g.(?_51802259)_(51802428_?)del deletion Duane-radial ray syndrome [RCV000795434] Chr20:51802259..51802428 [GRCh38]
Chr20:50418798..50418967 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.536C>G (p.Thr179Ser) single nucleotide variant Duane-radial ray syndrome [RCV000816741]|SALL4-related disorder [RCV004538122] Chr20:51791947 [GRCh38]
Chr20:50408486 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3080T>G (p.Val1027Gly) single nucleotide variant Duane-radial ray syndrome [RCV001209688]|Duane-radial ray syndrome [RCV002491639] Chr20:51784347 [GRCh38]
Chr20:50400886 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2743-132C>T single nucleotide variant not provided [RCV001641417] Chr20:51784816 [GRCh38]
Chr20:50401355 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.131-109C>T single nucleotide variant not provided [RCV001570777] Chr20:51792461 [GRCh38]
Chr20:50409000 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.131-226T>C single nucleotide variant not provided [RCV001560485] Chr20:51792578 [GRCh38]
Chr20:50409117 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.411C>G (p.Gly137=) single nucleotide variant Duane-radial ray syndrome [RCV002064715]|Duane-radial ray syndrome [RCV002507524]|SALL4-related disorder [RCV004538319] Chr20:51792072 [GRCh38]
Chr20:50408611 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1779G>A (p.Pro593=) single nucleotide variant not provided [RCV000874936] Chr20:51790704 [GRCh38]
Chr20:50407243 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1431C>A (p.Val477=) single nucleotide variant Duane-radial ray syndrome [RCV005092764] Chr20:51791052 [GRCh38]
Chr20:50407591 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2121G>A (p.Lys707=) single nucleotide variant not provided [RCV000909430] Chr20:51790362 [GRCh38]
Chr20:50406901 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.*245del deletion not provided [RCV001550903] Chr20:51784020 [GRCh38]
Chr20:50400559 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2935G>A (p.Gly979Ser) single nucleotide variant not provided [RCV001531968] Chr20:51784492 [GRCh38]
Chr20:50401031 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2462-207del deletion not provided [RCV001577562] Chr20:51789348 [GRCh38]
Chr20:50405887 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2252del (p.Asn751fs) deletion Duane-radial ray syndrome [RCV002470640] Chr20:51790231 [GRCh38]
Chr20:50406770 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.131-316C>T single nucleotide variant not provided [RCV001592412] Chr20:51792668 [GRCh38]
Chr20:50409207 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) single nucleotide variant Duane-radial ray syndrome [RCV002476843]|not provided [RCV001528501] Chr20:51784594 [GRCh38]
Chr20:50401133 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2462-49A>T single nucleotide variant not provided [RCV001676492] Chr20:51789190 [GRCh38]
Chr20:50405729 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2462-292T>C single nucleotide variant not provided [RCV001637703] Chr20:51789433 [GRCh38]
Chr20:50405972 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2743-153C>G single nucleotide variant not provided [RCV001676787] Chr20:51784837 [GRCh38]
Chr20:50401376 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1801C>T (p.Arg601Ter) single nucleotide variant Duane-radial ray syndrome [RCV001059757] Chr20:51790682 [GRCh38]
Chr20:50407221 [GRCh37]
Chr20:20q13.2		 pathogenic
NC_000020.11:g.51802719T>C single nucleotide variant not provided [RCV001583513] Chr20:51802719 [GRCh38]
Chr20:50419258 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2664C>T (p.His888=) single nucleotide variant Duane-radial ray syndrome [RCV001487937]|not provided [RCV004809639] Chr20:51788939 [GRCh38]
Chr20:50405478 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.762C>T (p.Ala254=) single nucleotide variant Duane-radial ray syndrome [RCV001513541]|Duane-radial ray syndrome [RCV002506601]|not provided [RCV004717787] Chr20:51791721 [GRCh38]
Chr20:50408260 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.893A>G (p.Asn298Ser) single nucleotide variant not provided [RCV001756448] Chr20:51791590 [GRCh38]
Chr20:50408129 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1125C>T (p.Asp375=) single nucleotide variant Duane-radial ray syndrome [RCV003108307]|not provided [RCV003435974] Chr20:51791358 [GRCh38]
Chr20:50407897 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2977G>T (p.Gly993Trp) single nucleotide variant Duane-radial ray syndrome [RCV002244224]|Duane-radial ray syndrome [RCV002496179] Chr20:51784450 [GRCh38]
Chr20:50400989 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) single nucleotide variant Duane-radial ray syndrome [RCV002272927]|Duane-radial ray syndrome [RCV005025752]|not provided [RCV003138142] Chr20:51791446 [GRCh38]
Chr20:50407985 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3010del (p.Ala1004fs) deletion not provided [RCV001764137] Chr20:51784417 [GRCh38]
Chr20:50400956 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr) single nucleotide variant Duane-radial ray syndrome [RCV002478045]|not specified [RCV001815090] Chr20:51791824 [GRCh38]
Chr20:50408363 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2816T>G (p.Met939Arg) single nucleotide variant Duane-radial ray syndrome [RCV001968262] Chr20:51784611 [GRCh38]
Chr20:50401150 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2704A>G (p.Ile902Val) single nucleotide variant Duane-radial ray syndrome [RCV001935448] Chr20:51788899 [GRCh38]
Chr20:50405438 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) single nucleotide variant Duane-radial ray syndrome [RCV001900286]|Duane-radial ray syndrome [RCV002506935] Chr20:51784450 [GRCh38]
Chr20:50400989 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.131-2A>G single nucleotide variant Duane-radial ray syndrome [RCV002020060] Chr20:51792354 [GRCh38]
Chr20:50408893 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.1802G>C (p.Arg601Pro) single nucleotide variant Duane-radial ray syndrome [RCV002013485] Chr20:51790681 [GRCh38]
Chr20:50407220 [GRCh37]
Chr20:20q13.2		 uncertain significance
NC_000020.10:g.(?_50400804)_(50418947_?)del deletion Duane-radial ray syndrome [RCV001900084] Chr20:50400804..50418947 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1476G>C (p.Gly492=) single nucleotide variant Duane-radial ray syndrome [RCV002159809] Chr20:51791007 [GRCh38]
Chr20:50407546 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1068del (p.Lys357fs) deletion Duane-radial ray syndrome [RCV002245303] Chr20:51791415 [GRCh38]
Chr20:50407954 [GRCh37]
Chr20:20q13.2		 pathogenic
NC_000020.10:g.(?_50400804)_(50401243_?)del deletion Duane-radial ray syndrome [RCV003109703] Chr20:50400804..50401243 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.531C>T (p.Ala177=) single nucleotide variant Duane-radial ray syndrome [RCV003116636] Chr20:51791952 [GRCh38]
Chr20:50408491 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.712C>T (p.Gln238Ter) single nucleotide variant Duane-radial ray syndrome [RCV002269253] Chr20:51791771 [GRCh38]
Chr20:50408310 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1205G>A (p.Arg402His) single nucleotide variant Duane-radial ray syndrome [RCV005025767]|not provided [RCV002288107] Chr20:51791278 [GRCh38]
Chr20:50407817 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1361G>T (p.Gly454Val) single nucleotide variant Inborn genetic diseases [RCV003305251] Chr20:51791122 [GRCh38]
Chr20:50407661 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2074G>A (p.Asp692Asn) single nucleotide variant Duane-radial ray syndrome [RCV003077033] Chr20:51790409 [GRCh38]
Chr20:50406948 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=) single nucleotide variant Duane-radial ray syndrome [RCV002690472] Chr20:51784397 [GRCh38]
Chr20:50400936 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.646G>A (p.Glu216Lys) single nucleotide variant Duane-radial ray syndrome [RCV003607561]|Inborn genetic diseases [RCV002729013] Chr20:51791837 [GRCh38]
Chr20:50408376 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu) single nucleotide variant Duane-radial ray syndrome [RCV001510815]|not provided [RCV001668569]|not specified [RCV000243752] Chr20:51790091 [GRCh38]
Chr20:50406630 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.540T>C (p.Asn180=) single nucleotide variant Duane-radial ray syndrome [RCV001516825]|Duane-radial ray syndrome [RCV002494757]|Oculootoradial syndrome [RCV001795462]|not provided [RCV001683094]|not specified [RCV000253657] Chr20:51791943 [GRCh38]
Chr20:50408482 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) single nucleotide variant Duane-radial ray syndrome [RCV000990318]|Oculootoradial syndrome [RCV001795460]|not provided [RCV001640565]|not specified [RCV000244051] Chr20:51790963 [GRCh38]
Chr20:51790963..51790964 [GRCh38]
Chr20:50407502 [GRCh37]
Chr20:50407502..50407503 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) single nucleotide variant Duane-radial ray syndrome [RCV001514772]|Oculootoradial syndrome [RCV001795459]|not provided [RCV001689898]|not specified [RCV000252263] Chr20:51791427 [GRCh38]
Chr20:50407966 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) single nucleotide variant Duane-radial ray syndrome [RCV001517451]|not provided [RCV001610717]|not specified [RCV000252364] Chr20:51790446 [GRCh38]
Chr20:50406985 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) single nucleotide variant Duane-radial ray syndrome [RCV001516824]|Oculootoradial syndrome [RCV001795461]|not provided [RCV001640566]|not specified [RCV000247598] Chr20:51790623 [GRCh38]
Chr20:50407162 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.990C>T (p.Leu330=) single nucleotide variant not specified [RCV000248173] Chr20:51791493 [GRCh38]
Chr20:50408032 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) single nucleotide variant Duane-radial ray syndrome [RCV001087456]|SALL4-related disorder [RCV004535374]|not provided [RCV000725906] Chr20:51791196 [GRCh38]
Chr20:50407735 [GRCh37]
Chr20:20q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.*125T>A single nucleotide variant not provided [RCV001688004] Chr20:51784140 [GRCh38]
Chr20:50400679 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) single nucleotide variant Duane-radial ray syndrome [RCV000872095]|Duane-radial ray syndrome [RCV002502306]|not provided [RCV003457674]|not specified [RCV001702618] Chr20:51790926 [GRCh38]
Chr20:50407465 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.1738T>G (p.Ser580Ala) single nucleotide variant Duane-radial ray syndrome [RCV005028989] Chr20:51790745 [GRCh38]
Chr20:50407284 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser) single nucleotide variant Duane-radial ray syndrome [RCV002494817]|Inborn genetic diseases [RCV004021083]|not provided [RCV000379264] Chr20:51790447 [GRCh38]
Chr20:50406986 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.766A>G (p.Thr256Ala) single nucleotide variant Duane-radial ray syndrome [RCV002504003]|Inborn genetic diseases [RCV004021209]|SALL4-related disorder [RCV004535370]|not provided [RCV000277279] Chr20:51791717 [GRCh38]
Chr20:50408256 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) single nucleotide variant Duane-radial ray syndrome [RCV000530749]|Duane-radial ray syndrome [RCV002502304]|not provided [RCV001643036] Chr20:51790353 [GRCh38]
Chr20:50406892 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2462-12T>C single nucleotide variant Duane-radial ray syndrome [RCV002571432]|not provided [RCV002469545] Chr20:51789153 [GRCh38]
Chr20:50405692 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) single nucleotide variant Duane-radial ray syndrome [RCV000870610]|Duane-radial ray syndrome [RCV002502305]|SALL4-related disorder [RCV004544632]|not provided [RCV001683350] Chr20:51790533 [GRCh38]
Chr20:50407072 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.3149T>C (p.Ile1050Thr) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000370822] Chr20:51784278 [GRCh38]
Chr20:50400817 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1020C>T (p.Gly340=) single nucleotide variant Duane-radial ray syndrome [RCV003500526]|not provided [RCV000344517] Chr20:51791463 [GRCh38]
Chr20:50408002 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.*13G>A single nucleotide variant SALL4-Related Spectrum Disorders [RCV000306237] Chr20:51784252 [GRCh38]
Chr20:50400791 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) single nucleotide variant Duane-radial ray syndrome [RCV000873497] Chr20:51792134 [GRCh38]
Chr20:50408673 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2462-13C>T single nucleotide variant Duane-radial ray syndrome [RCV002629672] Chr20:51789154 [GRCh38]
Chr20:50405693 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2262G>A (p.Val754=) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000284529] Chr20:51790221 [GRCh38]
Chr20:50406760 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.996C>T (p.Ser332=) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000378248] Chr20:51791487 [GRCh38]
Chr20:50408026 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) single nucleotide variant Duane-radial ray syndrome [RCV000951853]|Inborn genetic diseases [RCV002519093]|SALL4-related disorder [RCV004535262]|not provided [RCV001354906]|not specified [RCV000284842] Chr20:51789120 [GRCh38]
Chr20:50405659 [GRCh37]
Chr20:20q13.2		 benign|likely benign|uncertain significance
NM_020436.5(SALL4):c.2386G>A (p.Glu796Lys) single nucleotide variant not provided [RCV000352694] Chr20:51790097 [GRCh38]
Chr20:50406636 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) single nucleotide variant Duane-radial ray syndrome [RCV000639016]|Duane-radial ray syndrome [RCV002487497]|SALL4-related disorder [RCV004530378]|not provided [RCV001531354] Chr20:51790215 [GRCh38]
Chr20:50406754 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1005T>C (p.Leu335=) single nucleotide variant Duane-radial ray syndrome [RCV002502146]|not provided [RCV000287611] Chr20:51791478 [GRCh38]
Chr20:50408017 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2640G>A (p.Ser880=) single nucleotide variant Duane-radial ray syndrome [RCV002520020] Chr20:51788963 [GRCh38]
Chr20:50405502 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser) single nucleotide variant Duane-radial ray syndrome [RCV003607281]|not provided [RCV000356924] Chr20:51791125 [GRCh38]
Chr20:50407664 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.609C>A (p.Ala203=) single nucleotide variant Duane-radial ray syndrome [RCV002502307]|Duane-radial ray syndrome [RCV002523163]|not provided [RCV003430863] Chr20:51791874 [GRCh38]
Chr20:50408413 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) single nucleotide variant Duane-radial ray syndrome [RCV002057738]|not provided [RCV003430862] Chr20:51790265 [GRCh38]
Chr20:50406804 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) single nucleotide variant Duane-radial ray syndrome [RCV000872806]|SALL4-related disorder [RCV004544631]|not provided [RCV001660709] Chr20:51790321 [GRCh38]
Chr20:50406860 [GRCh37]
Chr20:20q13.2		 benign|likely benign|uncertain significance
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) single nucleotide variant Duane-radial ray syndrome [RCV000876081]|not provided [RCV003437078] Chr20:51789110 [GRCh38]
Chr20:50405649 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2482A>T (p.Thr828Ser) single nucleotide variant not provided [RCV000296283] Chr20:51789121 [GRCh38]
Chr20:50405660 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.236C>T (p.Ala79Val) single nucleotide variant Duane-radial ray syndrome [RCV005029026] Chr20:51792247 [GRCh38]
Chr20:50408786 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.328G>A (p.Val110Met) single nucleotide variant Inborn genetic diseases [RCV003347087] Chr20:51792155 [GRCh38]
Chr20:50408694 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) single nucleotide variant Duane-radial ray syndrome [RCV001399695]|Inborn genetic diseases [RCV002518018]|SALL4-related disorder [RCV004543111]|not provided [RCV000334228] Chr20:51790916 [GRCh38]
Chr20:50407455 [GRCh37]
Chr20:20q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.541G>A (p.Val181Met) single nucleotide variant Duane-radial ray syndrome [RCV001301221]|SALL4-related disorder [RCV004530379]|not specified [RCV000592615] Chr20:51791942 [GRCh38]
Chr20:50408481 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.216C>T (p.His72=) single nucleotide variant Duane-radial ray syndrome [RCV002523164]|not provided [RCV000592467] Chr20:51792267 [GRCh38]
Chr20:50408806 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1113C>G (p.Val371=) single nucleotide variant Duane-radial ray syndrome [RCV000953835]|SALL4-related disorder [RCV004544633] Chr20:51791370 [GRCh38]
Chr20:50407909 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.675G>A (p.Gln225=) single nucleotide variant not provided [RCV000370157] Chr20:51791808 [GRCh38]
Chr20:50408347 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2349A>G (p.Thr783=) single nucleotide variant not provided [RCV000370515] Chr20:51790134 [GRCh38]
Chr20:50406673 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3161A>G (p.Ter1054=) single nucleotide variant not provided [RCV000598198] Chr20:51784266 [GRCh38]
Chr20:50400805 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.110C>G (p.Ala37Gly) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000304730] Chr20:51802299 [GRCh38]
Chr20:50418838 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.559C>G (p.Arg187Gly) single nucleotide variant SALL4-Related Spectrum Disorders [RCV000289536] Chr20:51791924 [GRCh38]
Chr20:50408463 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.131-9T>C single nucleotide variant SALL4-Related Spectrum Disorders [RCV000396426] Chr20:51792361 [GRCh38]
Chr20:50408900 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2841_2842del (p.Arg948fs) deletion not provided [RCV000599410] Chr20:51784585..51784586 [GRCh38]
Chr20:50401124..50401125 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2409C>T (p.Pro803=) single nucleotide variant not provided [RCV000593296] Chr20:51790074 [GRCh38]
Chr20:50406613 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.950C>T (p.Pro317Leu) single nucleotide variant Duane-radial ray syndrome [RCV002480313]|Duane-radial ray syndrome [RCV002522385]|not provided [RCV000437707] Chr20:51791533 [GRCh38]
Chr20:50408072 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2491C>T (p.Arg831Ter) single nucleotide variant not provided [RCV000417679] Chr20:51789112 [GRCh38]
Chr20:50405651 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2848_2849delinsAA (p.Ser950Lys) indel not specified [RCV000481093] Chr20:51784578..51784579 [GRCh38]
Chr20:50401117..50401118 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1 copy number loss See cases [RCV000511416] Chr20:47726521..50427649 [GRCh37]
Chr20:20q13.13-13.2		 likely pathogenic
GRCh37/hg19 20q13.2(chr20:50327635-52375128)x3 copy number gain See cases [RCV000511390] Chr20:50327635..52375128 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=) single nucleotide variant Duane-radial ray syndrome [RCV001080059]|not provided [RCV000597953] Chr20:51784274 [GRCh38]
Chr20:50400813 [GRCh37]
Chr20:20q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) single nucleotide variant Duane-radial ray syndrome [RCV002498919]|Duane-radial ray syndrome [RCV002529515]|not specified [RCV000612044] Chr20:51784592 [GRCh38]
Chr20:50401131 [GRCh37]
Chr20:20q13.2		 benign|likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020436.5(SALL4):c.1311_1321del (p.Asn438fs) deletion not provided [RCV000596584] Chr20:51791162..51791172 [GRCh38]
Chr20:50407701..50407711 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.203G>A (p.Arg68Gln) single nucleotide variant Duane-radial ray syndrome [RCV000696452]|Duane-radial ray syndrome [RCV002477584] Chr20:51792280 [GRCh38]
Chr20:50408819 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1232del (p.Val411fs) deletion Duane-radial ray syndrome [RCV000704462] Chr20:51791251 [GRCh38]
Chr20:50407790 [GRCh37]
Chr20:20q13.2		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) single nucleotide variant Duane-radial ray syndrome [RCV000872418]|not provided [RCV001569147] Chr20:51790445 [GRCh38]
Chr20:50406984 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.131-2del deletion Duane-radial ray syndrome [RCV004760767]|Oculootoradial syndrome [RCV001262787]|not provided [RCV000762352] Chr20:51792354 [GRCh38]
Chr20:50408893 [GRCh37]
Chr20:20q13.2		 pathogenic|likely pathogenic
NM_020436.5(SALL4):c.2913G>A (p.Gln971=) single nucleotide variant Duane-radial ray syndrome [RCV002495354]|Duane-radial ray syndrome [RCV005092621] Chr20:51784514 [GRCh38]
Chr20:50401053 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu) single nucleotide variant Duane-radial ray syndrome [RCV001470571]|SALL4-related disorder [RCV004544982]|not provided [RCV004704394] Chr20:51791092 [GRCh38]
Chr20:50407631 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1497G>A (p.Thr499=) single nucleotide variant not provided [RCV000905630] Chr20:51790986 [GRCh38]
Chr20:50407525 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1329C>T (p.Ala443=) single nucleotide variant not provided [RCV000945310] Chr20:51791154 [GRCh38]
Chr20:50407693 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) single nucleotide variant Duane-radial ray syndrome [RCV002540182]|SALL4-related disorder [RCV004541878] Chr20:51790455 [GRCh38]
Chr20:50406994 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.447G>A (p.Ala149=) single nucleotide variant Duane-radial ray syndrome [RCV002505323]|Duane-radial ray syndrome [RCV003500605]|not provided [RCV000906349] Chr20:51792036 [GRCh38]
Chr20:50408575 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1752T>C (p.His584=) single nucleotide variant Duane-radial ray syndrome [RCV005092759] Chr20:51790731 [GRCh38]
Chr20:50407270 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) single nucleotide variant Duane-radial ray syndrome [RCV000905570]|Duane-radial ray syndrome [RCV002502692]|SALL4-related disorder [RCV004541917] Chr20:51790317 [GRCh38]
Chr20:50406856 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=) single nucleotide variant Duane-radial ray syndrome [RCV002066233] Chr20:51784331 [GRCh38]
Chr20:50400870 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.732C>T (p.Ser244=) single nucleotide variant Duane-radial ray syndrome [RCV002544598] Chr20:51791751 [GRCh38]
Chr20:50408290 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) single nucleotide variant Duane-radial ray syndrome [RCV002547228] Chr20:51791954 [GRCh38]
Chr20:50408493 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.696C>T (p.Thr232=) single nucleotide variant Duane-radial ray syndrome [RCV002495310]|Duane-radial ray syndrome [RCV003768692] Chr20:51791787 [GRCh38]
Chr20:50408326 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.105A>G (p.Pro35=) single nucleotide variant not provided [RCV000966556] Chr20:51802304 [GRCh38]
Chr20:50418843 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1519C>T (p.Leu507=) single nucleotide variant not provided [RCV000971973] Chr20:51790964 [GRCh38]
Chr20:50407503 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.250A>G (p.Ile84Val) single nucleotide variant Duane-radial ray syndrome [RCV000811863] Chr20:51792233 [GRCh38]
Chr20:50408772 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3103G>A (p.Gly1035Ser) single nucleotide variant Duane-radial ray syndrome [RCV001858428]|Inborn genetic diseases [RCV004029216]|SALL4-related disorder [RCV004540133]|not provided [RCV000834266] Chr20:51784324 [GRCh38]
Chr20:50400863 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1881G>A (p.Ser627=) single nucleotide variant not provided [RCV000893893] Chr20:51790602 [GRCh38]
Chr20:50407141 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3097A>G (p.Thr1033Ala) single nucleotide variant Duane-radial ray syndrome [RCV001062409] Chr20:51784330 [GRCh38]
Chr20:50400869 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh37/hg19 20q13.2(chr20:50411542-50427544)x3 copy number gain not provided [RCV000848441] Chr20:50411542..50427544 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2668C>T (p.Arg890Trp) single nucleotide variant Duane-radial ray syndrome [RCV001054116]|not provided [RCV004800678] Chr20:51788935 [GRCh38]
Chr20:50405474 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.131-86A>G single nucleotide variant not provided [RCV001614328] Chr20:51792438 [GRCh38]
Chr20:50408977 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.2742+314G>A single nucleotide variant not provided [RCV001570694] Chr20:51788547 [GRCh38]
Chr20:50405086 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2742+7T>C single nucleotide variant not provided [RCV000895847] Chr20:51788854 [GRCh38]
Chr20:50405393 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.735C>T (p.His245=) single nucleotide variant not provided [RCV000951772] Chr20:51791748 [GRCh38]
Chr20:50408287 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2385C>T (p.Ala795=) single nucleotide variant Duane-radial ray syndrome [RCV002502635]|Duane-radial ray syndrome [RCV002540161] Chr20:51790098 [GRCh38]
Chr20:50406637 [GRCh37]
Chr20:20q13.2		 likely benign
NC_000020.11:g.51802737A>C single nucleotide variant not provided [RCV001582308] Chr20:51802737 [GRCh38]
Chr20:50419276 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.594G>A (p.Ala198=) single nucleotide variant Duane-radial ray syndrome [RCV002544498] Chr20:51791889 [GRCh38]
Chr20:50408428 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.*244_*245dup duplication not provided [RCV001619102] Chr20:51784019..51784020 [GRCh38]
Chr20:50400558..50400559 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.516_522del (p.Gly174fs) deletion Duane-radial ray syndrome [RCV001172279] Chr20:51791961..51791967 [GRCh38]
Chr20:50408500..50408506 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2783G>A (p.Arg928His) single nucleotide variant not provided [RCV001093368] Chr20:51784644 [GRCh38]
Chr20:50401183 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2742+158A>G single nucleotide variant not provided [RCV001651896] Chr20:51788703 [GRCh38]
Chr20:50405242 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.1424A>G (p.Lys475Arg) single nucleotide variant Duane-radial ray syndrome [RCV001199016] Chr20:51791059 [GRCh38]
Chr20:50407598 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.202C>T (p.Arg68Trp) single nucleotide variant Duane-radial ray syndrome [RCV002480460]|Duane-radial ray syndrome [RCV003607403]|Inborn genetic diseases [RCV004659344]|not provided [RCV001093369] Chr20:51792281 [GRCh38]
Chr20:50408820 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.383del (p.Gly128fs) deletion Duane-radial ray syndrome [RCV001843831] Chr20:51792100 [GRCh38]
Chr20:50408639 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.2422A>G (p.Lys808Glu) single nucleotide variant Oculootoradial syndrome [RCV001262224] Chr20:51790061 [GRCh38]
Chr20:50406600 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.36C>G (p.Ile12Met) single nucleotide variant not provided [RCV001357896] Chr20:51802373 [GRCh38]
Chr20:50418912 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2899G>A (p.Val967Ile) single nucleotide variant not provided [RCV001754948] Chr20:51784528 [GRCh38]
Chr20:50401067 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2806G>A (p.Glu936Lys) single nucleotide variant not provided [RCV001754970] Chr20:51784621 [GRCh38]
Chr20:50401160 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1142A>G (p.Lys381Arg) single nucleotide variant not provided [RCV001770967] Chr20:51791341 [GRCh38]
Chr20:50407880 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1184G>A (p.Ser395Asn) single nucleotide variant Duane-radial ray syndrome [RCV002503203]|not provided [RCV001768811] Chr20:51791299 [GRCh38]
Chr20:50407838 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.760G>A (p.Ala254Thr) single nucleotide variant Inborn genetic diseases [RCV004953066]|not provided [RCV001786829] Chr20:51791723 [GRCh38]
Chr20:50408262 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2078del (p.Val693fs) deletion not provided [RCV001806870] Chr20:51790405 [GRCh38]
Chr20:50406944 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.2984T>G (p.Val995Gly) single nucleotide variant Duane-radial ray syndrome [RCV001864311] Chr20:51784443 [GRCh38]
Chr20:50400982 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2260G>A (p.Val754Met) single nucleotide variant Duane-radial ray syndrome [RCV001964988]|not provided [RCV003136342] Chr20:51790223 [GRCh38]
Chr20:50406762 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2410G>A (p.Asp804Asn) single nucleotide variant Duane-radial ray syndrome [RCV002048353] Chr20:51790073 [GRCh38]
Chr20:50406612 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1880C>T (p.Ser627Leu) single nucleotide variant Duane-radial ray syndrome [RCV001941335] Chr20:51790603 [GRCh38]
Chr20:50407142 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2590C>T (p.Arg864Cys) single nucleotide variant Duane-radial ray syndrome [RCV001877199] Chr20:51789013 [GRCh38]
Chr20:50405552 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1717C>T (p.Arg573Ter) single nucleotide variant Duane-radial ray syndrome [RCV001942194] Chr20:51790766 [GRCh38]
Chr20:50407305 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.318C>T (p.Ser106=) single nucleotide variant Duane-radial ray syndrome [RCV001916695]|Duane-radial ray syndrome [RCV002484553] Chr20:51792165 [GRCh38]
Chr20:50408704 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) single nucleotide variant Duane-radial ray syndrome [RCV002015022] Chr20:51790113 [GRCh38]
Chr20:50406652 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1496C>T (p.Thr499Met) single nucleotide variant Duane-radial ray syndrome [RCV001870552]|Duane-radial ray syndrome [RCV002503436] Chr20:51790987 [GRCh38]
Chr20:50407526 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1959dup (p.Pro654fs) duplication Duane-radial ray syndrome [RCV001922917] Chr20:51790523..51790524 [GRCh38]
Chr20:50407062..50407063 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1657C>T (p.Gln553Ter) single nucleotide variant Duane-radial ray syndrome [RCV001920960] Chr20:51790826 [GRCh38]
Chr20:50407365 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.130+6dup duplication Duane-radial ray syndrome [RCV002111829] Chr20:51802272..51802273 [GRCh38]
Chr20:50418811..50418812 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2673T>C (p.Thr891=) single nucleotide variant Duane-radial ray syndrome [RCV002205757] Chr20:51788930 [GRCh38]
Chr20:50405469 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg) single nucleotide variant Duane-radial ray syndrome [RCV002221438] Chr20:51790693 [GRCh38]
Chr20:50407232 [GRCh37]
Chr20:20q13.2		 not provided
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile) single nucleotide variant Duane-radial ray syndrome [RCV002221439] Chr20:51790204 [GRCh38]
Chr20:50406743 [GRCh37]
Chr20:20q13.2		 not provided
NM_020436.5(SALL4):c.212C>T (p.Thr71Met) single nucleotide variant not provided [RCV002293056] Chr20:51792271 [GRCh38]
Chr20:50408810 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.199C>T (p.Arg67Cys) single nucleotide variant Duane-radial ray syndrome [RCV005025833]|not provided [RCV002464732] Chr20:51792284 [GRCh38]
Chr20:50408823 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.575C>A (p.Ala192Glu) single nucleotide variant Duane-radial ray syndrome [RCV003014176]|not provided [RCV003458159]|not specified [RCV005239601] Chr20:51791908 [GRCh38]
Chr20:50408447 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.540_541inv (p.Val181Met) inversion Duane-radial ray syndrome [RCV002616672] Chr20:51791942..51791943 [GRCh38]
Chr20:50408481..50408482 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2501C>T (p.Pro834Leu) single nucleotide variant Duane-radial ray syndrome [RCV002613620] Chr20:51789102 [GRCh38]
Chr20:50405641 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2872C>T (p.Leu958=) single nucleotide variant Duane-radial ray syndrome [RCV002880351] Chr20:51784555 [GRCh38]
Chr20:50401094 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2354T>A (p.Phe785Tyr) single nucleotide variant Inborn genetic diseases [RCV002865090] Chr20:51790129 [GRCh38]
Chr20:50406668 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2280dup (p.Asn761fs) duplication Duane-radial ray syndrome [RCV002839463] Chr20:51790202..51790203 [GRCh38]
Chr20:50406741..50406742 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.33C>T (p.His11=) single nucleotide variant Duane-radial ray syndrome [RCV002838962] Chr20:51802376 [GRCh38]
Chr20:50418915 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1679_1687del (p.Lys560_Thr562del) deletion Duane-radial ray syndrome [RCV002750223] Chr20:51790796..51790804 [GRCh38]
Chr20:50407335..50407343 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1660T>C (p.Leu554=) single nucleotide variant Duane-radial ray syndrome [RCV002796963] Chr20:51790823 [GRCh38]
Chr20:50407362 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser) single nucleotide variant Duane-radial ray syndrome [RCV003077192] Chr20:51791465 [GRCh38]
Chr20:50408004 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1472C>T (p.Ser491Leu) single nucleotide variant Duane-radial ray syndrome [RCV002890584]|Duane-radial ray syndrome [RCV005028001]|SALL4-related disorder [RCV004545412] Chr20:51791011 [GRCh38]
Chr20:50407550 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1130C>T (p.Ala377Val) single nucleotide variant Inborn genetic diseases [RCV002872912] Chr20:51791353 [GRCh38]
Chr20:50407892 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2606A>C (p.Gln869Pro) single nucleotide variant Inborn genetic diseases [RCV002854098] Chr20:51788997 [GRCh38]
Chr20:50405536 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1472C>A (p.Ser491Ter) single nucleotide variant Duane-radial ray syndrome [RCV002877524] Chr20:51791011 [GRCh38]
Chr20:50407550 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2163G>A (p.Thr721=) single nucleotide variant Duane-radial ray syndrome [RCV003062728] Chr20:51790320 [GRCh38]
Chr20:50406859 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1432C>G (p.Leu478Val) single nucleotide variant Inborn genetic diseases [RCV002832492] Chr20:51791051 [GRCh38]
Chr20:50407590 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2360C>T (p.Ala787Val) single nucleotide variant not provided [RCV003059953] Chr20:51790123 [GRCh38]
Chr20:50406662 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1699G>A (p.Glu567Lys) single nucleotide variant Duane-radial ray syndrome [RCV005028369]|Inborn genetic diseases [RCV002840475] Chr20:51790784 [GRCh38]
Chr20:50407323 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.485C>T (p.Pro162Leu) single nucleotide variant Duane-radial ray syndrome [RCV002995540] Chr20:51791998 [GRCh38]
Chr20:50408537 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.339A>G (p.Glu113=) single nucleotide variant Duane-radial ray syndrome [RCV002908032]|SALL4-related disorder [RCV004536434] Chr20:51792144 [GRCh38]
Chr20:50408683 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.1209C>T (p.Ser403=) single nucleotide variant Duane-radial ray syndrome [RCV002756372] Chr20:51791274 [GRCh38]
Chr20:50407813 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1204C>T (p.Arg402Cys) single nucleotide variant Duane-radial ray syndrome [RCV002908416]|Duane-radial ray syndrome [RCV005028009] Chr20:51791279 [GRCh38]
Chr20:50407818 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1079A>C (p.Lys360Thr) single nucleotide variant Duane-radial ray syndrome [RCV002705417] Chr20:51791404 [GRCh38]
Chr20:50407943 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys) single nucleotide variant Duane-radial ray syndrome [RCV003081471]|Duane-radial ray syndrome [RCV005034648]|Inborn genetic diseases [RCV003081472] Chr20:51790250 [GRCh38]
Chr20:50406789 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1130C>A (p.Ala377Glu) single nucleotide variant Duane-radial ray syndrome [RCV002846787]|Duane-radial ray syndrome [RCV005027987] Chr20:51791353 [GRCh38]
Chr20:50407892 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.474_475del (p.Glu158fs) microsatellite Duane-radial ray syndrome [RCV003000119] Chr20:51792008..51792009 [GRCh38]
Chr20:50408547..50408548 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.159C>T (p.Asp53=) single nucleotide variant Duane-radial ray syndrome [RCV002636582] Chr20:51792324 [GRCh38]
Chr20:50408863 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.122G>A (p.Gly41Glu) single nucleotide variant Duane-radial ray syndrome [RCV002706037]|Inborn genetic diseases [RCV004066961] Chr20:51802287 [GRCh38]
Chr20:50418826 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2065G>A (p.Glu689Lys) single nucleotide variant Duane-radial ray syndrome [RCV002570020] Chr20:51790418 [GRCh38]
Chr20:50406957 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3128A>C (p.His1043Pro) single nucleotide variant Inborn genetic diseases [RCV002887572] Chr20:51784299 [GRCh38]
Chr20:50400838 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.588G>A (p.Arg196=) single nucleotide variant Duane-radial ray syndrome [RCV002979445] Chr20:51791895 [GRCh38]
Chr20:50408434 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu) single nucleotide variant Duane-radial ray syndrome [RCV003607562]|Duane-radial ray syndrome [RCV005036615]|Inborn genetic diseases [RCV002698088]|not provided [RCV004794621] Chr20:51784365 [GRCh38]
Chr20:50400904 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2743-5C>T single nucleotide variant Duane-radial ray syndrome [RCV002914554] Chr20:51784689 [GRCh38]
Chr20:50401228 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.853T>C (p.Ser285Pro) single nucleotide variant Duane-radial ray syndrome [RCV002790464] Chr20:51791630 [GRCh38]
Chr20:50408169 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2743-3T>C single nucleotide variant Duane-radial ray syndrome [RCV003005458]|Duane-radial ray syndrome [RCV005034574]|SALL4-related disorder [RCV004540500] Chr20:51784687 [GRCh38]
Chr20:50401226 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1625del (p.Pro542fs) deletion Duane-radial ray syndrome [RCV002790040] Chr20:51790858 [GRCh38]
Chr20:50407397 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1698C>T (p.Asn566=) single nucleotide variant Duane-radial ray syndrome [RCV002624640] Chr20:51790785 [GRCh38]
Chr20:50407324 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1309G>C (p.Ala437Pro) single nucleotide variant Duane-radial ray syndrome [RCV002667727] Chr20:51791174 [GRCh38]
Chr20:50407713 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.596A>G (p.Asp199Gly) single nucleotide variant Duane-radial ray syndrome [RCV002957735]|Duane-radial ray syndrome [RCV005028049] Chr20:51791887 [GRCh38]
Chr20:50408426 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2742+16C>T single nucleotide variant Duane-radial ray syndrome [RCV002919009] Chr20:51788845 [GRCh38]
Chr20:50405384 [GRCh37]
Chr20:20q13.2		 benign
NM_020436.5(SALL4):c.124G>A (p.Glu42Lys) single nucleotide variant Inborn genetic diseases [RCV002812986] Chr20:51802285 [GRCh38]
Chr20:50418824 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2809A>C (p.Asn937His) single nucleotide variant Inborn genetic diseases [RCV002854976] Chr20:51784618 [GRCh38]
Chr20:50401157 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3098C>T (p.Thr1033Ile) single nucleotide variant Duane-radial ray syndrome [RCV005036639]|Inborn genetic diseases [RCV002769822]|SALL4-related disorder [RCV004538882] Chr20:51784329 [GRCh38]
Chr20:50400868 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.213G>A (p.Thr71=) single nucleotide variant Duane-radial ray syndrome [RCV002629179] Chr20:51792270 [GRCh38]
Chr20:50408809 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.31C>T (p.His11Tyr) single nucleotide variant Duane-radial ray syndrome [RCV002856173] Chr20:51802378 [GRCh38]
Chr20:50418917 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1330G>A (p.Glu444Lys) single nucleotide variant Duane-radial ray syndrome [RCV003064548] Chr20:51791153 [GRCh38]
Chr20:50407692 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.891C>T (p.Ala297=) single nucleotide variant Duane-radial ray syndrome [RCV002605208] Chr20:51791592 [GRCh38]
Chr20:50408131 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2573_2577delinsG (p.Leu858fs) indel Duane-radial ray syndrome [RCV004797397] Chr20:51789026..51789030 [GRCh38]
Chr20:50405565..50405569 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.1217G>A (p.Gly406Glu) single nucleotide variant SALL4-related disorder [RCV004529613]|not provided [RCV003225538] Chr20:51791266 [GRCh38]
Chr20:50407805 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1829_1833dup (p.His612fs) duplication not provided [RCV003228365] Chr20:51790649..51790650 [GRCh38]
Chr20:50407188..50407189 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.216C>G (p.His72Gln) single nucleotide variant Inborn genetic diseases [RCV003204335]|not provided [RCV004725679] Chr20:51792267 [GRCh38]
Chr20:50408806 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2456dup (p.Met819fs) duplication Duane-radial ray syndrome [RCV003228721] Chr20:51790026..51790027 [GRCh38]
Chr20:50406565..50406566 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.3058del (p.Gln1020fs) deletion Duane-radial ray syndrome [RCV003330141] Chr20:51784369 [GRCh38]
Chr20:50400908 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.317G>A (p.Ser106Asn) single nucleotide variant not provided [RCV003431367] Chr20:51792166 [GRCh38]
Chr20:50408705 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2788_2789delinsC (p.Gly930fs) indel SALL4-related disorder [RCV004527875] Chr20:51784638..51784639 [GRCh38]
Chr20:50401177..50401178 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1162A>T (p.Ser388Cys) single nucleotide variant SALL4-related disorder [RCV004528731] Chr20:51791321 [GRCh38]
Chr20:50407860 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2502G>A (p.Pro834=) single nucleotide variant not provided [RCV003440444] Chr20:51789101 [GRCh38]
Chr20:50405640 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1971C>A (p.Pro657=) single nucleotide variant not provided [RCV003440445] Chr20:51790512 [GRCh38]
Chr20:50407051 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.810A>G (p.Ala270=) single nucleotide variant not provided [RCV003440446] Chr20:51791673 [GRCh38]
Chr20:50408212 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1379_1380del (p.Ser460fs) microsatellite SALL4-related disorder [RCV004528735] Chr20:51791103..51791104 [GRCh38]
Chr20:50407642..50407643 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.167C>T (p.Ala56Val) single nucleotide variant Duane-radial ray syndrome [RCV005036778]|SALL4-related disorder [RCV004531580] Chr20:51792316 [GRCh38]
Chr20:50408855 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1850G>A (p.Arg617Gln) single nucleotide variant Inborn genetic diseases [RCV004961340]|not provided [RCV003491429] Chr20:51790633 [GRCh38]
Chr20:50407172 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3002C>T (p.Ser1001Phe) single nucleotide variant Duane-radial ray syndrome [RCV003607875] Chr20:51784425 [GRCh38]
Chr20:50400964 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.789C>T (p.His263=) single nucleotide variant Duane-radial ray syndrome [RCV003607946]|SALL4-related disorder [RCV004539060] Chr20:51791694 [GRCh38]
Chr20:50408233 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1107G>A (p.Val369=) single nucleotide variant Duane-radial ray syndrome [RCV003824498] Chr20:51791376 [GRCh38]
Chr20:50407915 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1277A>G (p.Lys426Arg) single nucleotide variant Duane-radial ray syndrome [RCV003608084] Chr20:51791206 [GRCh38]
Chr20:50407745 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1092G>A (p.Pro364=) single nucleotide variant Duane-radial ray syndrome [RCV003607075] Chr20:51791391 [GRCh38]
Chr20:50407930 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2373C>T (p.Ala791=) single nucleotide variant Duane-radial ray syndrome [RCV003607090] Chr20:51790110 [GRCh38]
Chr20:50406649 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.941C>G (p.Thr314Ser) single nucleotide variant not provided [RCV004588858] Chr20:51791542 [GRCh38]
Chr20:50408081 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.9G>A (p.Arg3=) single nucleotide variant Duane-radial ray syndrome [RCV003814756] Chr20:51802400 [GRCh38]
Chr20:50418939 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.42GGA[4] (p.Glu16_Asp17insGlu) microsatellite Duane-radial ray syndrome [RCV003854037] Chr20:51802358..51802359 [GRCh38]
Chr20:50418897..50418898 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1 copy number loss Duane-radial ray syndrome [RCV003984307] Chr20:51783476..51785034 [GRCh38]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1023G>A (p.Ser341=) single nucleotide variant SALL4-related disorder [RCV004534515]|not provided [RCV005242450] Chr20:51791460 [GRCh38]
Chr20:50407999 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.477A>G (p.Thr159=) single nucleotide variant Duane-radial ray syndrome [RCV003864564] Chr20:51792006 [GRCh38]
Chr20:50408545 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2477C>G (p.Pro826Arg) single nucleotide variant SALL4-related disorder [RCV004531954] Chr20:51789126 [GRCh38]
Chr20:50405665 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.962G>A (p.Arg321Gln) single nucleotide variant SALL4-related disorder [RCV004534698] Chr20:51791521 [GRCh38]
Chr20:50408060 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2831C>T (p.Thr944Met) single nucleotide variant SALL4-related disorder [RCV004536952] Chr20:51784596 [GRCh38]
Chr20:50401135 [GRCh37]
Chr20:20q13.2		 uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33		 pathogenic
NM_020436.5(SALL4):c.74A>T (p.Gln25Leu) single nucleotide variant Inborn genetic diseases [RCV004661389] Chr20:51802335 [GRCh38]
Chr20:50418874 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1975_1988del (p.Leu658_Pro659insTer) deletion Duane-radial ray syndrome [RCV004598511] Chr20:51790495..51790508 [GRCh38]
Chr20:50407034..50407047 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.382G>A (p.Gly128Ser) single nucleotide variant Inborn genetic diseases [RCV004661384] Chr20:51792101 [GRCh38]
Chr20:50408640 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1679A>G (p.Lys560Arg) single nucleotide variant not specified [RCV004691033] Chr20:51790804 [GRCh38]
Chr20:50407343 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1511C>T (p.Pro504Leu) single nucleotide variant not specified [RCV004702690] Chr20:51790972 [GRCh38]
Chr20:50407511 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2860C>T (p.Pro954Ser) single nucleotide variant SALL4-related disorder [RCV004737633] Chr20:51784567 [GRCh38]
Chr20:50401106 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2241_2248delinsTT (p.Ser748_Glu750delinsTer) indel SALL4-related disorder [RCV004728533] Chr20:51790235..51790242 [GRCh38]
Chr20:50406774..50406781 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1557del (p.Thr520fs) deletion Duane-radial ray syndrome [RCV004764643] Chr20:51790926 [GRCh38]
Chr20:50407465 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2640_2642del (p.Ser881del) deletion not provided [RCV004768020] Chr20:51788961..51788963 [GRCh38]
Chr20:50405500..50405502 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1102G>T (p.Ala368Ser) single nucleotide variant Duane-radial ray syndrome [RCV005029001] Chr20:51791381 [GRCh38]
Chr20:50407920 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.626A>G (p.Asn209Ser) single nucleotide variant Duane-radial ray syndrome [RCV005029011] Chr20:51791857 [GRCh38]
Chr20:50408396 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.446C>T (p.Ala149Val) single nucleotide variant Duane-radial ray syndrome [RCV005029019] Chr20:51792037 [GRCh38]
Chr20:50408576 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.409G>A (p.Gly137Ser) single nucleotide variant Duane-radial ray syndrome [RCV005029022] Chr20:51792074 [GRCh38]
Chr20:50408613 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.240G>A (p.Glu80=) single nucleotide variant Duane-radial ray syndrome [RCV005029025] Chr20:51792243 [GRCh38]
Chr20:50408782 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2305G>T (p.Asp769Tyr) single nucleotide variant Duane-radial ray syndrome [RCV005028974] Chr20:51790178 [GRCh38]
Chr20:50406717 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3158G>A (p.Ser1053Asn) single nucleotide variant Duane-radial ray syndrome [RCV005028965] Chr20:51784269 [GRCh38]
Chr20:50400808 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.38A>G (p.Asn13Ser) single nucleotide variant Duane-radial ray syndrome [RCV005029032] Chr20:51802371 [GRCh38]
Chr20:50418910 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1250A>G (p.His417Arg) single nucleotide variant not provided [RCV004823376] Chr20:51791233 [GRCh38]
Chr20:50407772 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1073A>G (p.Lys358Arg) single nucleotide variant not provided [RCV005001660] Chr20:51791410 [GRCh38]
Chr20:50407949 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2029G>A (p.Gly677Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028980] Chr20:51790454 [GRCh38]
Chr20:50406993 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2005G>A (p.Glu669Lys) single nucleotide variant Duane-radial ray syndrome [RCV005028981] Chr20:51790478 [GRCh38]
Chr20:50407017 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.543G>T (p.Val181=) single nucleotide variant Duane-radial ray syndrome [RCV005196645] Chr20:51791940 [GRCh38]
Chr20:50408479 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3016T>A (p.Ser1006Thr) single nucleotide variant Duane-radial ray syndrome [RCV005202419] Chr20:51784411 [GRCh38]
Chr20:50400950 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2621G>A (p.Arg874Gln) single nucleotide variant Duane-radial ray syndrome [RCV005070339] Chr20:51788982 [GRCh38]
Chr20:50405521 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2650G>A (p.Ala884Thr) single nucleotide variant Duane-radial ray syndrome [RCV005181597] Chr20:51788953 [GRCh38]
Chr20:50405492 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1518C>G (p.Asp506Glu) single nucleotide variant Duane-radial ray syndrome [RCV005078163] Chr20:51790965 [GRCh38]
Chr20:50407504 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1764C>T (p.His588=) single nucleotide variant Duane-radial ray syndrome [RCV005157521] Chr20:51790719 [GRCh38]
Chr20:50407258 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3041C>T (p.Ser1014Phe) single nucleotide variant Duane-radial ray syndrome [RCV005110973] Chr20:51784386 [GRCh38]
Chr20:50400925 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2455A>G (p.Met819Val) single nucleotide variant Duane-radial ray syndrome [RCV005084190] Chr20:51790028 [GRCh38]
Chr20:50406567 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.119C>T (p.Ala40Val) single nucleotide variant Duane-radial ray syndrome [RCV005023740]|Inborn genetic diseases [RCV004968721] Chr20:51802290 [GRCh38]
Chr20:50418829 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.599C>T (p.Ala200Val) single nucleotide variant Duane-radial ray syndrome [RCV003067717] Chr20:51791884 [GRCh38]
Chr20:50408423 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.526G>A (p.Val176Met) single nucleotide variant Duane-radial ray syndrome [RCV002942657]|not specified [RCV003317630] Chr20:51791957 [GRCh38]
Chr20:50408496 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2792G>A (p.Arg931Lys) single nucleotide variant Inborn genetic diseases [RCV002944998] Chr20:51784635 [GRCh38]
Chr20:50401174 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.770T>G (p.Leu257Arg) single nucleotide variant Duane-radial ray syndrome [RCV002676716] Chr20:51791713 [GRCh38]
Chr20:50408252 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1382T>G (p.Val461Gly) single nucleotide variant Inborn genetic diseases [RCV002680115] Chr20:51791101 [GRCh38]
Chr20:50407640 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1756C>T (p.Arg586Cys) single nucleotide variant Duane-radial ray syndrome [RCV002612451]|Duane-radial ray syndrome [RCV005028288] Chr20:51790727 [GRCh38]
Chr20:50407266 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2786G>A (p.Arg929His) single nucleotide variant Inborn genetic diseases [RCV003197585] Chr20:51784641 [GRCh38]
Chr20:50401180 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1103C>T (p.Ala368Val) single nucleotide variant Inborn genetic diseases [RCV003184670] Chr20:51791380 [GRCh38]
Chr20:50407919 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2089A>G (p.Ser697Gly) single nucleotide variant Inborn genetic diseases [RCV003216957] Chr20:51790394 [GRCh38]
Chr20:50406933 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1693C>T (p.Pro565Ser) single nucleotide variant SALL4-related disorder [RCV003221336]|not provided [RCV003234240] Chr20:51790790 [GRCh38]
Chr20:50407329 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1337A>G (p.Gln446Arg) single nucleotide variant Inborn genetic diseases [RCV003194819] Chr20:51791146 [GRCh38]
Chr20:50407685 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1951G>A (p.Gly651Ser) single nucleotide variant Inborn genetic diseases [RCV003359477] Chr20:51790532 [GRCh38]
Chr20:50407071 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2983del (p.Val995fs) deletion not provided [RCV003332623] Chr20:51784444 [GRCh38]
Chr20:50400983 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs) microsatellite Duane-radial ray syndrome [RCV003778267]|SALL4-related disorder [RCV004529310] Chr20:51791238..51791241 [GRCh38]
Chr20:50407777..50407780 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2803A>G (p.Ile935Val) single nucleotide variant not specified [RCV003479836] Chr20:51784624 [GRCh38]
Chr20:50401163 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.888C>A (p.His296Gln) single nucleotide variant SALL4-related disorder [RCV004529726] Chr20:51791595 [GRCh38]
Chr20:50408134 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.454G>A (p.Val152Met) single nucleotide variant SALL4-related disorder [RCV004529707] Chr20:51792029 [GRCh38]
Chr20:50408568 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe) single nucleotide variant Duane-radial ray syndrome [RCV003607598]|not specified [RCV003404801] Chr20:51791480 [GRCh38]
Chr20:50408019 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.1512C>T (p.Pro504=) single nucleotide variant Duane-radial ray syndrome [RCV003607599]|not provided [RCV003431366] Chr20:51790971 [GRCh38]
Chr20:50407510 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.2594G>T (p.Arg865Leu) single nucleotide variant SALL4-related disorder [RCV004534233] Chr20:51789009 [GRCh38]
Chr20:50405548 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.67C>T (p.Pro23Ser) single nucleotide variant Duane-radial ray syndrome [RCV005030009]|SALL4-related disorder [RCV004529702] Chr20:51802342 [GRCh38]
Chr20:50418881 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2400delinsTT (p.Ser800_Lys801insTer) indel SALL4-related disorder [RCV004529282] Chr20:51790083 [GRCh38]
Chr20:50406622 [GRCh37]
Chr20:20q13.2		 likely pathogenic
NM_020436.5(SALL4):c.1314C>T (p.Asn438=) single nucleotide variant Duane-radial ray syndrome [RCV003608645] Chr20:51791169 [GRCh38]
Chr20:50407708 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1671C>T (p.Asn557=) single nucleotide variant Duane-radial ray syndrome [RCV003607020] Chr20:51790812 [GRCh38]
Chr20:50407351 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.776C>T (p.Thr259Ile) single nucleotide variant Duane-radial ray syndrome [RCV003607731] Chr20:51791707 [GRCh38]
Chr20:50408246 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1358A>T (p.Asn453Ile) single nucleotide variant Duane-radial ray syndrome [RCV003607648] Chr20:51791125 [GRCh38]
Chr20:50407664 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.432G>A (p.Lys144=) single nucleotide variant Duane-radial ray syndrome [RCV003608107] Chr20:51792051 [GRCh38]
Chr20:50408590 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2081A>C (p.Glu694Ala) single nucleotide variant Duane-radial ray syndrome [RCV003608314] Chr20:51790402 [GRCh38]
Chr20:50406941 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1770G>A (p.Gly590=) single nucleotide variant Duane-radial ray syndrome [RCV003607117] Chr20:51790713 [GRCh38]
Chr20:50407252 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1718G>A (p.Arg573Gln) single nucleotide variant Duane-radial ray syndrome [RCV003607983] Chr20:51790765 [GRCh38]
Chr20:50407304 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2980G>A (p.Gly994Arg) single nucleotide variant Duane-radial ray syndrome [RCV003608595] Chr20:51784447 [GRCh38]
Chr20:50400986 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro) single nucleotide variant Duane-radial ray syndrome [RCV003608383] Chr20:51790979 [GRCh38]
Chr20:50407518 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2234G>A (p.Arg745His) single nucleotide variant Duane-radial ray syndrome [RCV003608320]|Duane-radial ray syndrome [RCV005030193] Chr20:51790249 [GRCh38]
Chr20:50406788 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.986G>A (p.Arg329His) single nucleotide variant Duane-radial ray syndrome [RCV003878901]|Duane-radial ray syndrome [RCV005038610] Chr20:51791497 [GRCh38]
Chr20:50408036 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3031G>A (p.Ala1011Thr) single nucleotide variant Duane-radial ray syndrome [RCV003608066] Chr20:51784396 [GRCh38]
Chr20:50400935 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1851A>G (p.Arg617=) single nucleotide variant Duane-radial ray syndrome [RCV003608119] Chr20:51790632 [GRCh38]
Chr20:50407171 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.593C>T (p.Ala198Val) single nucleotide variant Duane-radial ray syndrome [RCV003607179]|Duane-radial ray syndrome [RCV005030260]|Inborn genetic diseases [RCV004953513] Chr20:51791890 [GRCh38]
Chr20:50408429 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2253C>T (p.Asn751=) single nucleotide variant Duane-radial ray syndrome [RCV003608296] Chr20:51790230 [GRCh38]
Chr20:50406769 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2982G>T (p.Gly994=) single nucleotide variant Duane-radial ray syndrome [RCV003501661]|not provided [RCV004703320] Chr20:51784445 [GRCh38]
Chr20:50400984 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2424dup (p.Ala809fs) duplication Duane-radial ray syndrome [RCV003500139] Chr20:51790058..51790059 [GRCh38]
Chr20:50406597..50406598 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2049C>G (p.Cys683Trp) single nucleotide variant Duane-radial ray syndrome [RCV003500152] Chr20:51790434 [GRCh38]
Chr20:50406973 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2765C>T (p.Ala922Val) single nucleotide variant Duane-radial ray syndrome [RCV003501950]|Duane-radial ray syndrome [RCV005030129] Chr20:51784662 [GRCh38]
Chr20:50401201 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2352C>A (p.Ser784=) single nucleotide variant Duane-radial ray syndrome [RCV003500962] Chr20:51790131 [GRCh38]
Chr20:50406670 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2782C>T (p.Arg928Cys) single nucleotide variant Duane-radial ray syndrome [RCV003500064] Chr20:51784645 [GRCh38]
Chr20:50401184 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2114C>G (p.Ser705Cys) single nucleotide variant Duane-radial ray syndrome [RCV003501759] Chr20:51790369 [GRCh38]
Chr20:50406908 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.412G>A (p.Gly138Ser) single nucleotide variant Duane-radial ray syndrome [RCV003501774] Chr20:51792071 [GRCh38]
Chr20:50408610 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.888C>T (p.His296=) single nucleotide variant Duane-radial ray syndrome [RCV003501780] Chr20:51791595 [GRCh38]
Chr20:50408134 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=) single nucleotide variant Duane-radial ray syndrome [RCV003501129]|not provided [RCV004574061] Chr20:51784322 [GRCh38]
Chr20:50400861 [GRCh37]
Chr20:20q13.2		 benign|likely benign
NM_020436.5(SALL4):c.1633G>T (p.Gly545Trp) single nucleotide variant Duane-radial ray syndrome [RCV003500037] Chr20:51790850 [GRCh38]
Chr20:50407389 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val) single nucleotide variant Duane-radial ray syndrome [RCV003501920]|Duane-radial ray syndrome [RCV005030128]|not provided [RCV003885356] Chr20:51784275 [GRCh38]
Chr20:50400814 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2257T>G (p.Ser753Ala) single nucleotide variant Duane-radial ray syndrome [RCV003501533] Chr20:51790226 [GRCh38]
Chr20:50406765 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1994_1995del (p.Phe665fs) deletion Duane-radial ray syndrome [RCV003501578] Chr20:51790488..51790489 [GRCh38]
Chr20:50407027..50407028 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.2151G>A (p.Ser717=) single nucleotide variant Duane-radial ray syndrome [RCV003501502] Chr20:51790332 [GRCh38]
Chr20:50406871 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2944G>A (p.Val982Met) single nucleotide variant Duane-radial ray syndrome [RCV003501107]|Inborn genetic diseases [RCV004953302] Chr20:51784483 [GRCh38]
Chr20:50401022 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.573G>A (p.Val191=) single nucleotide variant Duane-radial ray syndrome [RCV003814020] Chr20:51791910 [GRCh38]
Chr20:50408449 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.889G>A (p.Ala297Thr) single nucleotide variant Duane-radial ray syndrome [RCV003822703]|Duane-radial ray syndrome [RCV005030282] Chr20:51791594 [GRCh38]
Chr20:50408133 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.39C>T (p.Asn13=) single nucleotide variant Duane-radial ray syndrome [RCV003854038] Chr20:51802370 [GRCh38]
Chr20:50418909 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2496C>T (p.Ala832=) single nucleotide variant Duane-radial ray syndrome [RCV003865334] Chr20:51789107 [GRCh38]
Chr20:50405646 [GRCh37]
Chr20:20q13.2		 likely benign
GRCh37/hg19 20q13.13-13.2(chr20:49718564-51223195)x3 copy number gain not specified [RCV003986130] Chr20:49718564..51223195 [GRCh37]
Chr20:20q13.13-13.2		 uncertain significance
NM_020436.5(SALL4):c.2461+6A>G single nucleotide variant SALL4-related disorder [RCV004532199] Chr20:51790016 [GRCh38]
Chr20:50406555 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2916C>T (p.Tyr972=) single nucleotide variant SALL4-related disorder [RCV004532053] Chr20:51784511 [GRCh38]
Chr20:50401050 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.534C>G (p.Asn178Lys) single nucleotide variant SALL4-related disorder [RCV004545495] Chr20:51791949 [GRCh38]
Chr20:50408488 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.213G>T (p.Thr71=) single nucleotide variant not provided [RCV003884106] Chr20:51792270 [GRCh38]
Chr20:50408809 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1552G>A (p.Gly518Arg) single nucleotide variant Inborn genetic diseases [RCV004449932] Chr20:51790931 [GRCh38]
Chr20:50407470 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2465G>A (p.Arg822Gln) single nucleotide variant Inborn genetic diseases [RCV004449935] Chr20:51789138 [GRCh38]
Chr20:50405677 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2873T>A (p.Leu958Gln) single nucleotide variant Inborn genetic diseases [RCV004449938] Chr20:51784554 [GRCh38]
Chr20:50401093 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.514G>C (p.Ala172Pro) single nucleotide variant Duane-radial ray syndrome [RCV005023533]|Inborn genetic diseases [RCV004449939] Chr20:51791969 [GRCh38]
Chr20:50408508 [GRCh37]
Chr20:20q13.2		 likely benign|uncertain significance
NM_020436.5(SALL4):c.2369C>G (p.Pro790Arg) single nucleotide variant Inborn genetic diseases [RCV004449933] Chr20:51790114 [GRCh38]
Chr20:50406653 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2437G>A (p.Glu813Lys) single nucleotide variant Duane-radial ray syndrome [RCV005104676]|Inborn genetic diseases [RCV004449934] Chr20:51790046 [GRCh38]
Chr20:50406585 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.932C>T (p.Ala311Val) single nucleotide variant Duane-radial ray syndrome [RCV005104677]|Inborn genetic diseases [RCV004449941] Chr20:51791551 [GRCh38]
Chr20:50408090 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.635C>T (p.Pro212Leu) single nucleotide variant Duane-radial ray syndrome [RCV004577185]|Inborn genetic diseases [RCV004661834] Chr20:51791848 [GRCh38]
Chr20:50408387 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1308G>T (p.Lys436Asn) single nucleotide variant Inborn genetic diseases [RCV004449930] Chr20:51791175 [GRCh38]
Chr20:50407714 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1403C>T (p.Pro468Leu) single nucleotide variant Duane-radial ray syndrome [RCV005038675]|Inborn genetic diseases [RCV004449931] Chr20:51791080 [GRCh38]
Chr20:50407619 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2672C>T (p.Thr891Ile) single nucleotide variant Inborn genetic diseases [RCV004449937] Chr20:51788931 [GRCh38]
Chr20:50405470 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.899C>T (p.Pro300Leu) single nucleotide variant Inborn genetic diseases [RCV004449940] Chr20:51791584 [GRCh38]
Chr20:50408123 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.944T>C (p.Leu315Pro) single nucleotide variant Inborn genetic diseases [RCV004449942] Chr20:51791539 [GRCh38]
Chr20:50408078 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2555C>T (p.Ser852Phe) single nucleotide variant Inborn genetic diseases [RCV004449936] Chr20:51789048 [GRCh38]
Chr20:50405587 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1159T>C (p.Cys387Arg) single nucleotide variant Duane-radial ray syndrome [RCV004598334] Chr20:51791324 [GRCh38]
Chr20:50407863 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3076G>T (p.Asp1026Tyr) single nucleotide variant Inborn genetic diseases [RCV004661385] Chr20:51784351 [GRCh38]
Chr20:50400890 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2294C>T (p.Ser765Leu) single nucleotide variant Inborn genetic diseases [RCV004674448] Chr20:51790189 [GRCh38]
Chr20:50406728 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2207T>C (p.Val736Ala) single nucleotide variant not provided [RCV004575075] Chr20:51790276 [GRCh38]
Chr20:50406815 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2056G>C (p.Asp686His) single nucleotide variant Inborn genetic diseases [RCV004661388] Chr20:51790427 [GRCh38]
Chr20:50406966 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2011A>G (p.Met671Val) single nucleotide variant Inborn genetic diseases [RCV004674449] Chr20:51790472 [GRCh38]
Chr20:50407011 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.780G>C (p.Leu260Phe) single nucleotide variant SALL4-related disorder [RCV004726493] Chr20:51791703 [GRCh38]
Chr20:50408242 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2121G>C (p.Lys707Asn) single nucleotide variant SALL4-related disorder [RCV004736758] Chr20:51790362 [GRCh38]
Chr20:50406901 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1697A>G (p.Asn566Ser) single nucleotide variant Duane-radial ray syndrome [RCV005038810]|SALL4-related disorder [RCV004737011] Chr20:51790786 [GRCh38]
Chr20:50407325 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.568A>G (p.Lys190Glu) single nucleotide variant Inborn genetic diseases [RCV004962647] Chr20:51791915 [GRCh38]
Chr20:50408454 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.751G>A (p.Gly251Arg) single nucleotide variant Inborn genetic diseases [RCV004962644] Chr20:51791732 [GRCh38]
Chr20:50408271 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.992C>A (p.Pro331Gln) single nucleotide variant Inborn genetic diseases [RCV004962648] Chr20:51791491 [GRCh38]
Chr20:50408030 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1550G>A (p.Gly517Asp) single nucleotide variant Inborn genetic diseases [RCV004962650] Chr20:51790933 [GRCh38]
Chr20:50407472 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.575C>T (p.Ala192Val) single nucleotide variant Inborn genetic diseases [RCV004962645] Chr20:51791908 [GRCh38]
Chr20:50408447 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.847G>C (p.Gly283Arg) single nucleotide variant Inborn genetic diseases [RCV004962646] Chr20:51791636 [GRCh38]
Chr20:50408175 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1332G>T (p.Glu444Asp) single nucleotide variant Inborn genetic diseases [RCV004962649] Chr20:51791151 [GRCh38]
Chr20:50407690 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2717C>G (p.Ala906Gly) single nucleotide variant Duane-radial ray syndrome [RCV005032560] Chr20:51788886 [GRCh38]
Chr20:50405425 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2557C>T (p.Pro853Ser) single nucleotide variant Duane-radial ray syndrome [RCV005032561] Chr20:51789046 [GRCh38]
Chr20:50405585 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2546C>T (p.Ser849Leu) single nucleotide variant Duane-radial ray syndrome [RCV005032563] Chr20:51789057 [GRCh38]
Chr20:50405596 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2114C>T (p.Ser705Phe) single nucleotide variant Duane-radial ray syndrome [RCV005032565] Chr20:51790369 [GRCh38]
Chr20:50406908 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.736G>A (p.Ala246Thr) single nucleotide variant Duane-radial ray syndrome [RCV005032573] Chr20:51791747 [GRCh38]
Chr20:50408286 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.143A>G (p.Asn48Ser) single nucleotide variant Duane-radial ray syndrome [RCV005032581] Chr20:51792340 [GRCh38]
Chr20:50408879 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1706T>G (p.Leu569Arg) single nucleotide variant Duane-radial ray syndrome [RCV005028991] Chr20:51790777 [GRCh38]
Chr20:50407316 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1673T>C (p.Ile558Thr) single nucleotide variant Duane-radial ray syndrome [RCV005028993] Chr20:51790810 [GRCh38]
Chr20:50407349 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1297C>T (p.Pro433Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028999] Chr20:51791186 [GRCh38]
Chr20:50407725 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1055C>T (p.Ala352Val) single nucleotide variant Duane-radial ray syndrome [RCV005029003] Chr20:51791428 [GRCh38]
Chr20:50407967 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1009C>G (p.Gln337Glu) single nucleotide variant Duane-radial ray syndrome [RCV005029005] Chr20:51791474 [GRCh38]
Chr20:50408013 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.748A>G (p.Ser250Gly) single nucleotide variant Duane-radial ray syndrome [RCV005029010] Chr20:51791735 [GRCh38]
Chr20:50408274 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.571G>T (p.Val191Leu) single nucleotide variant Duane-radial ray syndrome [RCV005029014] Chr20:51791912 [GRCh38]
Chr20:50408451 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.497A>G (p.Gln166Arg) single nucleotide variant Duane-radial ray syndrome [RCV005029016] Chr20:51791986 [GRCh38]
Chr20:50408525 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.433_435del (p.Glu145del) deletion Duane-radial ray syndrome [RCV005029021] Chr20:51792048..51792050 [GRCh38]
Chr20:50408587..50408589 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.219C>A (p.Val73=) single nucleotide variant Duane-radial ray syndrome [RCV005029027] Chr20:51792264 [GRCh38]
Chr20:50408803 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.160G>A (p.Glu54Lys) single nucleotide variant Duane-radial ray syndrome [RCV005029028] Chr20:51792323 [GRCh38]
Chr20:50408862 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2392A>G (p.Ile798Val) single nucleotide variant Duane-radial ray syndrome [RCV005028973] Chr20:51790091 [GRCh38]
Chr20:50406630 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2742+15G>T single nucleotide variant Duane-radial ray syndrome [RCV005028972] Chr20:51788846 [GRCh38]
Chr20:50405385 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2809A>G (p.Asn937Asp) single nucleotide variant Duane-radial ray syndrome [RCV005028969] Chr20:51784618 [GRCh38]
Chr20:50401157 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3106G>A (p.Val1036Ile) single nucleotide variant Duane-radial ray syndrome [RCV005028966]|Duane-radial ray syndrome [RCV005112794] Chr20:51784321 [GRCh38]
Chr20:50400860 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1606T>C (p.Phe536Leu) single nucleotide variant Duane-radial ray syndrome [RCV005028995] Chr20:51790877 [GRCh38]
Chr20:50407416 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.90T>A (p.Phe30Leu) single nucleotide variant Duane-radial ray syndrome [RCV005029029]|not specified [RCV005241070] Chr20:51802319 [GRCh38]
Chr20:50418858 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.74A>C (p.Gln25Pro) single nucleotide variant Duane-radial ray syndrome [RCV005029031] Chr20:51802335 [GRCh38]
Chr20:50418874 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.4T>C (p.Ser2Pro) single nucleotide variant Duane-radial ray syndrome [RCV005029033] Chr20:51802405 [GRCh38]
Chr20:50418944 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.412G>C (p.Gly138Arg) single nucleotide variant Duane-radial ray syndrome [RCV005032576] Chr20:51792071 [GRCh38]
Chr20:50408610 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3128A>T (p.His1043Leu) single nucleotide variant Duane-radial ray syndrome [RCV005032556] Chr20:51784299 [GRCh38]
Chr20:50400838 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2891T>C (p.Val964Ala) single nucleotide variant Duane-radial ray syndrome [RCV005032559] Chr20:51784536 [GRCh38]
Chr20:50401075 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2498C>T (p.Pro833Leu) single nucleotide variant Duane-radial ray syndrome [RCV005032564] Chr20:51789105 [GRCh38]
Chr20:50405644 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1619G>A (p.Gly540Glu) single nucleotide variant Duane-radial ray syndrome [RCV005032567] Chr20:51790864 [GRCh38]
Chr20:50407403 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1589C>A (p.Ser530Tyr) single nucleotide variant Duane-radial ray syndrome [RCV005032568] Chr20:51790894 [GRCh38]
Chr20:50407433 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1583A>G (p.Tyr528Cys) single nucleotide variant Duane-radial ray syndrome [RCV005032569] Chr20:51790900 [GRCh38]
Chr20:50407439 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1284C>T (p.His428=) single nucleotide variant Duane-radial ray syndrome [RCV005032571] Chr20:51791199 [GRCh38]
Chr20:50407738 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1091C>T (p.Pro364Leu) single nucleotide variant Duane-radial ray syndrome [RCV005032572] Chr20:51791392 [GRCh38]
Chr20:50407931 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.586C>T (p.Arg196Trp) single nucleotide variant Duane-radial ray syndrome [RCV005032574] Chr20:51791897 [GRCh38]
Chr20:50408436 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.560G>C (p.Arg187Pro) single nucleotide variant Duane-radial ray syndrome [RCV005032575] Chr20:51791923 [GRCh38]
Chr20:50408462 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.301C>G (p.Leu101Val) single nucleotide variant Duane-radial ray syndrome [RCV005032578] Chr20:51792182 [GRCh38]
Chr20:50408721 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2165T>G (p.Leu722Arg) single nucleotide variant Duane-radial ray syndrome [RCV005028978] Chr20:51790318 [GRCh38]
Chr20:50406857 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1998G>A (p.Thr666=) single nucleotide variant Duane-radial ray syndrome [RCV005028982] Chr20:51790485 [GRCh38]
Chr20:50407024 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1837C>T (p.Leu613Phe) single nucleotide variant Duane-radial ray syndrome [RCV005028984] Chr20:51790646 [GRCh38]
Chr20:50407185 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1756C>G (p.Arg586Gly) single nucleotide variant Duane-radial ray syndrome [RCV005028988] Chr20:51790727 [GRCh38]
Chr20:50407266 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1735A>G (p.Ser579Gly) single nucleotide variant Duane-radial ray syndrome [RCV005028990] Chr20:51790748 [GRCh38]
Chr20:50407287 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1798G>A (p.Gly600Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028985] Chr20:51790685 [GRCh38]
Chr20:50407224 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1681G>A (p.Ala561Thr) single nucleotide variant Duane-radial ray syndrome [RCV005028992] Chr20:51790802 [GRCh38]
Chr20:50407341 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1048A>G (p.Thr350Ala) single nucleotide variant Duane-radial ray syndrome [RCV005029004] Chr20:51791435 [GRCh38]
Chr20:50407974 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.884C>T (p.Pro295Leu) single nucleotide variant Duane-radial ray syndrome [RCV005029007] Chr20:51791599 [GRCh38]
Chr20:50408138 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.382G>T (p.Gly128Cys) single nucleotide variant Duane-radial ray syndrome [RCV005029023] Chr20:51792101 [GRCh38]
Chr20:50408640 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2284G>A (p.Asp762Asn) single nucleotide variant Duane-radial ray syndrome [RCV005028975] Chr20:51790199 [GRCh38]
Chr20:50406738 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2764G>A (p.Ala922Thr) single nucleotide variant Duane-radial ray syndrome [RCV005028971] Chr20:51784663 [GRCh38]
Chr20:50401202 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2283C>A (p.Asn761Lys) single nucleotide variant Duane-radial ray syndrome [RCV005028976]|Duane-radial ray syndrome [RCV005112795] Chr20:51790200 [GRCh38]
Chr20:50406739 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2072T>C (p.Ile691Thr) single nucleotide variant Duane-radial ray syndrome [RCV005028979] Chr20:51790411 [GRCh38]
Chr20:50406950 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.3011C>T (p.Ala1004Val) single nucleotide variant Duane-radial ray syndrome [RCV005032557] Chr20:51784416 [GRCh38]
Chr20:50400955 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.353C>T (p.Ala118Val) single nucleotide variant Duane-radial ray syndrome [RCV005032577] Chr20:51792130 [GRCh38]
Chr20:50408669 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.296C>T (p.Pro99Leu) single nucleotide variant Duane-radial ray syndrome [RCV005032579] Chr20:51792187 [GRCh38]
Chr20:50408726 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.184A>G (p.Thr62Ala) single nucleotide variant Duane-radial ray syndrome [RCV005032580] Chr20:51792299 [GRCh38]
Chr20:50408838 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2065G>C (p.Glu689Gln) single nucleotide variant Duane-radial ray syndrome [RCV005032566] Chr20:51790418 [GRCh38]
Chr20:50406957 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.439C>T (p.Pro147Ser) single nucleotide variant Duane-radial ray syndrome [RCV005029020] Chr20:51792044 [GRCh38]
Chr20:50408583 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2902G>A (p.Val968Met) single nucleotide variant Duane-radial ray syndrome [RCV005028968] Chr20:51784525 [GRCh38]
Chr20:50401064 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.319G>A (p.Glu107Lys) single nucleotide variant Duane-radial ray syndrome [RCV005029024] Chr20:51792164 [GRCh38]
Chr20:50408703 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2930A>G (p.Asn977Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028967] Chr20:51784497 [GRCh38]
Chr20:50401036 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1469C>A (p.Ser490Tyr) single nucleotide variant Duane-radial ray syndrome [RCV005028996] Chr20:51791014 [GRCh38]
Chr20:50407553 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.70_78del (p.Gln24_Gln26del) deletion Duane-radial ray syndrome [RCV005029030] Chr20:51802331..51802339 [GRCh38]
Chr20:50418870..50418878 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2935G>C (p.Gly979Arg) single nucleotide variant Inborn genetic diseases [RCV004968722] Chr20:51784492 [GRCh38]
Chr20:50401031 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1697A>C (p.Asn566Thr) single nucleotide variant not provided [RCV004823769] Chr20:51790786 [GRCh38]
Chr20:50407325 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2830A>G (p.Thr944Ala) single nucleotide variant Inborn genetic diseases [RCV004968723] Chr20:51784597 [GRCh38]
Chr20:50401136 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1877A>G (p.His626Arg) single nucleotide variant Duane-radial ray syndrome [RCV005028983] Chr20:51790606 [GRCh38]
Chr20:50407145 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1070A>G (p.Lys357Arg) single nucleotide variant Duane-radial ray syndrome [RCV005029002] Chr20:51791413 [GRCh38]
Chr20:50407952 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.971C>T (p.Pro324Leu) single nucleotide variant Duane-radial ray syndrome [RCV005029006] Chr20:51791512 [GRCh38]
Chr20:50408051 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.623C>T (p.Ala208Val) single nucleotide variant Duane-radial ray syndrome [RCV005029012] Chr20:51791860 [GRCh38]
Chr20:50408399 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.587G>A (p.Arg196Gln) single nucleotide variant Duane-radial ray syndrome [RCV005029013] Chr20:51791896 [GRCh38]
Chr20:50408435 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2230C>A (p.Gln744Lys) single nucleotide variant Duane-radial ray syndrome [RCV005028977] Chr20:51790253 [GRCh38]
Chr20:50406792 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1422C>A (p.Ser474Arg) single nucleotide variant Duane-radial ray syndrome [RCV005028997] Chr20:51791061 [GRCh38]
Chr20:50407600 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1367C>G (p.Pro456Arg) single nucleotide variant Duane-radial ray syndrome [RCV005028998] Chr20:51791116 [GRCh38]
Chr20:50407655 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1156T>A (p.Tyr386Asn) single nucleotide variant Duane-radial ray syndrome [RCV005029000] Chr20:51791327 [GRCh38]
Chr20:50407866 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.782G>A (p.Gly261Asp) single nucleotide variant Duane-radial ray syndrome [RCV005029008] Chr20:51791701 [GRCh38]
Chr20:50408240 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1766C>G (p.Thr589Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028986] Chr20:51790717 [GRCh38]
Chr20:50407256 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1640A>G (p.Glu547Gly) single nucleotide variant Duane-radial ray syndrome [RCV005028994] Chr20:51790843 [GRCh38]
Chr20:50407382 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.750C>T (p.Ser250=) single nucleotide variant Duane-radial ray syndrome [RCV005029009] Chr20:51791733 [GRCh38]
Chr20:50408272 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.491C>T (p.Thr164Ile) single nucleotide variant Duane-radial ray syndrome [RCV005029017] Chr20:51791992 [GRCh38]
Chr20:50408531 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.452C>T (p.Ser151Phe) single nucleotide variant Duane-radial ray syndrome [RCV005029018] Chr20:51792031 [GRCh38]
Chr20:50408570 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2774A>G (p.Asn925Ser) single nucleotide variant Duane-radial ray syndrome [RCV005028970] Chr20:51784653 [GRCh38]
Chr20:50401192 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2753T>C (p.Met918Thr) single nucleotide variant Inborn genetic diseases [RCV004968720] Chr20:51784674 [GRCh38]
Chr20:50401213 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2101del (p.Ala701fs) deletion Duane-radial ray syndrome [RCV005122223] Chr20:51790382 [GRCh38]
Chr20:50406921 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1577C>T (p.Pro526Leu) single nucleotide variant Duane-radial ray syndrome [RCV005145074] Chr20:51790906 [GRCh38]
Chr20:50407445 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2771A>G (p.Asn924Ser) single nucleotide variant Duane-radial ray syndrome [RCV005085316] Chr20:51784656 [GRCh38]
Chr20:50401195 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2129C>T (p.Thr710Met) single nucleotide variant Duane-radial ray syndrome [RCV005185962] Chr20:51790354 [GRCh38]
Chr20:50406893 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1316C>T (p.Pro439Leu) single nucleotide variant Duane-radial ray syndrome [RCV005185767] Chr20:51791167 [GRCh38]
Chr20:50407706 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2865_2870dup (p.Glu956_Ile957insMetGlu) duplication Duane-radial ray syndrome [RCV005186772] Chr20:51784556..51784557 [GRCh38]
Chr20:50401095..50401096 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.1473G>A (p.Ser491=) single nucleotide variant Duane-radial ray syndrome [RCV005081707] Chr20:51791010 [GRCh38]
Chr20:50407549 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2943C>T (p.Ala981=) single nucleotide variant Duane-radial ray syndrome [RCV005073447] Chr20:51784484 [GRCh38]
Chr20:50401023 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3081G>A (p.Val1027=) single nucleotide variant Duane-radial ray syndrome [RCV005143019] Chr20:51784346 [GRCh38]
Chr20:50400885 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.2094C>T (p.Ser698=) single nucleotide variant Duane-radial ray syndrome [RCV005141562] Chr20:51790389 [GRCh38]
Chr20:50406928 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.3135G>T (p.Leu1045=) single nucleotide variant Duane-radial ray syndrome [RCV005132355] Chr20:51784292 [GRCh38]
Chr20:50400831 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1757G>A (p.Arg586His) single nucleotide variant Duane-radial ray syndrome [RCV005158645] Chr20:51790726 [GRCh38]
Chr20:50407265 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.548T>G (p.Leu183Trp) single nucleotide variant Duane-radial ray syndrome [RCV005139225] Chr20:51791935 [GRCh38]
Chr20:50408474 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.2832G>A (p.Thr944=) single nucleotide variant Duane-radial ray syndrome [RCV005182294] Chr20:51784595 [GRCh38]
Chr20:50401134 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1221G>A (p.Glu407=) single nucleotide variant Duane-radial ray syndrome [RCV005148805] Chr20:51791262 [GRCh38]
Chr20:50407801 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.47A>C (p.Glu16Ala) single nucleotide variant Duane-radial ray syndrome [RCV005126033] Chr20:51802362 [GRCh38]
Chr20:50418901 [GRCh37]
Chr20:20q13.2		 uncertain significance
NM_020436.5(SALL4):c.42G>A (p.Ser14=) single nucleotide variant Duane-radial ray syndrome [RCV005154047] Chr20:51802367 [GRCh38]
Chr20:50418906 [GRCh37]
Chr20:20q13.2		 likely benign
NM_020436.5(SALL4):c.1291C>T (p.Arg431Ter) single nucleotide variant Duane-radial ray syndrome [RCV005114980] Chr20:51791192 [GRCh38]
Chr20:50407731 [GRCh37]
Chr20:20q13.2		 pathogenic
NM_020436.5(SALL4):c.1665G>A (p.Val555=) single nucleotide variant Duane-radial ray syndrome [RCV005129103] Chr20:51790818 [GRCh38]
Chr20:50407357 [GRCh37]
Chr20:20q13.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:864
Count of miRNA genes:487
Interacting mature miRNAs:529
Transcripts:ENST00000217086, ENST00000371539, ENST00000395997, ENST00000481363, ENST00000483130
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406955073GWAS604049_HCleft palate, cleft lip QTL GWAS604049 (human)6e-08Cleft palate, cleft lip205179096351790964Human
597147430GWAS1243504_Hbody mass index QTL GWAS1243504 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)205178554051785541Human
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
597030551GWAS1126625_Hbody mass index QTL GWAS1126625 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)205178554051785541Human
597128133GWAS1224207_Hgut microbiome measurement QTL GWAS1224207 (human)1e-08gut microbiome measurement205179942251799423Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597086234GWAS1182308_Hneuroblastoma QTL GWAS1182308 (human)1e-10neuroblastoma205179213451792135Human

Markers in Region
AL022348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372050,413,899 - 50,414,024UniSTSGRCh37
Build 362049,847,306 - 49,847,431RGDNCBI36
Celera2047,118,607 - 47,118,732RGD
Cytogenetic Map20q13.2UniSTS
HuRef2047,161,258 - 47,161,383UniSTS
RH46384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372050,409,604 - 50,409,764UniSTSGRCh37
Build 362049,843,011 - 49,843,171RGDNCBI36
Celera2047,114,312 - 47,114,472RGD
Cytogenetic Map20q13.2UniSTS
HuRef2047,156,963 - 47,157,123UniSTS
GeneMap99-GB4 RH Map20301.64UniSTS
NCBI RH Map20513.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1203 2374 2530 2152 4907 1699 2287 3 601 1416 443 2252 6324 5844 49 3689 761 1719 1574 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA419623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA854044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI638036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY170621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY170622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY172738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE549760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN271900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA666635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA747867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB066881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000217086   ⟹   ENSP00000217086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2051,782,331 - 51,802,521 (-)Ensembl
Ensembl Acc Id: ENST00000371539   ⟹   ENSP00000360594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2051,784,046 - 51,802,509 (-)Ensembl
Ensembl Acc Id: ENST00000395997   ⟹   ENSP00000379319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2051,784,265 - 51,802,475 (-)Ensembl
Ensembl Acc Id: ENST00000481363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2051,792,068 - 51,793,078 (-)Ensembl
Ensembl Acc Id: ENST00000483130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2051,791,983 - 51,801,586 (-)Ensembl
RefSeq Acc Id: NM_001318031   ⟹   NP_001304960
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,782,331 - 51,802,521 (-)NCBI
CHM1_12050,304,150 - 50,323,951 (-)NCBI
T2T-CHM13v2.02053,553,791 - 53,573,978 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020436   ⟹   NP_065169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,782,331 - 51,802,521 (-)NCBI
GRCh372050,400,551 - 50,419,059 (-)NCBI
Build 362049,833,988 - 49,852,421 (-)NCBI Archive
HuRef2047,147,931 - 47,166,405 (-)ENTREZGENE
CHM1_12050,304,150 - 50,323,951 (-)NCBI
T2T-CHM13v2.02053,553,791 - 53,573,978 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440318   ⟹   XP_047296274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,782,331 - 51,801,602 (-)NCBI
RefSeq Acc Id: XM_054323742   ⟹   XP_054179717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02053,553,791 - 53,573,061 (-)NCBI
RefSeq Acc Id: NP_065169   ⟸   NM_020436
- Peptide Label: isoform 1
- UniProtKB: Q540H3 (UniProtKB/Swiss-Prot),   A2A2D8 (UniProtKB/Swiss-Prot),   Q6Y8G6 (UniProtKB/Swiss-Prot),   Q9UJQ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304960   ⟸   NM_001318031
- Peptide Label: isoform 2
- UniProtKB: Q9UJQ4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000360594   ⟸   ENST00000371539
Ensembl Acc Id: ENSP00000217086   ⟸   ENST00000217086
Ensembl Acc Id: ENSP00000379319   ⟸   ENST00000395997
RefSeq Acc Id: XP_047296274   ⟸   XM_047440318
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179717   ⟸   XM_054323742
- Peptide Label: isoform X1
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJQ4-F1-model_v2 AlphaFold Q9UJQ4 1-1053 view protein structure

Promoters
RGD ID:6799045
Promoter ID:HG_KWN:39839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000258919
Position:
Human AssemblyChrPosition (strand)Source
Build 362049,851,036 - 49,851,536 (-)MPROMDB
RGD ID:6799044
Promoter ID:HG_KWN:39840
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000217086,   UC002XWI.2,   UC010GII.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362049,852,236 - 49,852,737 (-)MPROMDB
RGD ID:13602116
Promoter ID:EPDNEW_H27242
Type:initiation region
Name:SALL4_1
Description:spalt like transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27243  EPDNEW_H27245  EPDNEW_H27244  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,802,520 - 51,802,580EPDNEW
RGD ID:13602118
Promoter ID:EPDNEW_H27243
Type:initiation region
Name:SALL4_4
Description:spalt like transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27242  EPDNEW_H27245  EPDNEW_H27244  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,802,640 - 51,802,700EPDNEW
RGD ID:13602122
Promoter ID:EPDNEW_H27244
Type:initiation region
Name:SALL4_3
Description:spalt like transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27242  EPDNEW_H27243  EPDNEW_H27245  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382051,803,168 - 51,803,228EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15924 AgrOrtholog
COSMIC SALL4 COSMIC
Ensembl Genes ENSG00000101115 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217086 ENTREZGENE
  ENST00000217086.9 UniProtKB/Swiss-Prot
  ENST00000395997 ENTREZGENE
  ENST00000395997.3 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000101115 GTEx
HGNC ID HGNC:15924 ENTREZGENE
Human Proteome Map SALL4 Human Proteome Map
InterPro Sal_C2H2-zinc-finger UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:57167 UniProtKB/Swiss-Prot
NCBI Gene 57167 ENTREZGENE
OMIM 607343 OMIM
PANTHER SAL-LIKE PROTEIN UniProtKB/Swiss-Prot
  SAL-LIKE PROTEIN 4 UniProtKB/Swiss-Prot
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA34936 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt A2A2D8 ENTREZGENE
  Q540H3 ENTREZGENE
  Q6Y8G5_HUMAN UniProtKB/TrEMBL
  Q6Y8G6 ENTREZGENE
  Q9UJQ4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2A2D8 UniProtKB/Swiss-Prot
  Q540H3 UniProtKB/Swiss-Prot
  Q6Y8G6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 SALL4  spalt like transcription factor 4  SALL4  spalt-like transcription factor 4  Symbol and/or name change 5135510 APPROVED
2013-10-22 SALL4  spalt-like transcription factor 4  SALL4  sal-like 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED