MED13L (mediator complex subunit 13L) - Rat Genome Database

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Gene: MED13L (mediator complex subunit 13L) Homo sapiens
Analyze
Symbol: MED13L
Name: mediator complex subunit 13L
RGD ID: 1314183
HGNC Page HGNC:22962
Description: Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of mediator complex. Implicated in dextro-looped transposition of the great arteries.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp781D0112; FLJ21627; KIAA1025; mediator complex subunit 13 like; mediator complex subunit 13-like; mediator of RNA polymerase II transcription subunit 13-like; MRFACD; PROSIT240; THRAP2; thyroid hormone receptor associated protein 2; thyroid hormone receptor-associated protein 2; thyroid hormone receptor-associated protein complex 240 kDa component-like; TRAP240L
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812115,958,576 - 116,277,693 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12115,957,905 - 116,277,693 (-)EnsemblGRCh38hg38GRCh38
GRCh3712116,396,381 - 116,715,498 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612114,880,764 - 115,199,526 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412114,859,102 - 115,177,863NCBI
Celera12116,025,985 - 116,344,576 (-)NCBICelera
Cytogenetic Map12q24.21NCBI
HuRef12113,407,355 - 113,687,093 (-)NCBIHuRef
CHM1_112116,364,171 - 116,682,739 (-)NCBICHM1_1
T2T-CHM13v2.012115,939,568 - 116,258,754 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
diclofenac  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
fluoranthene  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
lead diacetate  (ISO)
leflunomide  (EXP)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
oxaliplatin  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
theophylline  (EXP)
thimerosal  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal foot morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormality of the hand  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Arthrogryposis-like hand anomaly  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Brachycephaly  (IAGP)
Broad forehead  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Clinodactyly  (IAGP)
Coloboma  (IAGP)
Cryptorchidism  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downturned corners of mouth  (IAGP)
Dysarthria  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Frontal bossing  (IAGP)
Frontal upsweep of hair  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Horizontal eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Incoordination  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Ocular anterior segment dysgenesis  (IAGP)
Open mouth  (IAGP)
Overfriendliness  (IAGP)
Patent foramen ovale  (IAGP)
Plagiocephaly  (IAGP)
Poor speech  (IAGP)
Preauricular skin tag  (IAGP)
Prominent forehead  (IAGP)
Ptosis  (IAGP)
Recurrent infections  (IAGP)
Restlessness  (IAGP)
Round face  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Spastic paraparesis  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Transposition of the great arteries  (IAGP)
Triangular face  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Muncke N, etal., Circulation. 2003 Dec 9;108(23):2843-50. Epub 2003 Nov 24.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. The Mediator complex and transcription regulation. Poss ZC, etal., Crit Rev Biochem Mol Biol. 2013 Nov-Dec;48(6):575-608. doi: 10.3109/10409238.2013.840259. Epub 2013 Oct 3.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10470851   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15145061   PMID:15175163   PMID:20379614   PMID:21729782   PMID:21761138   PMID:21873635   PMID:22249253   PMID:23322298  
PMID:23403903   PMID:23602568   PMID:23746844   PMID:24781760   PMID:24981860   PMID:25106414   PMID:25137640   PMID:25249183   PMID:25281560   PMID:25712080   PMID:25720964   PMID:25758992  
PMID:26091241   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27365365   PMID:27500536   PMID:27684187   PMID:28371282   PMID:28514442   PMID:28645799   PMID:29117863   PMID:29159987  
PMID:29507755   PMID:29509190   PMID:29511999   PMID:29568061   PMID:29656893   PMID:29959045   PMID:30021884   PMID:31010829   PMID:31285543   PMID:32416067   PMID:32694731   PMID:32707033  
PMID:32802198   PMID:33541421   PMID:33640491   PMID:33660365   PMID:33930262   PMID:33961781   PMID:34732716   PMID:35271311   PMID:35748872   PMID:35914814   PMID:37512036   PMID:38113892  


Genomics

Comparative Map Data
MED13L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812115,958,576 - 116,277,693 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12115,957,905 - 116,277,693 (-)EnsemblGRCh38hg38GRCh38
GRCh3712116,396,381 - 116,715,498 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612114,880,764 - 115,199,526 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412114,859,102 - 115,177,863NCBI
Celera12116,025,985 - 116,344,576 (-)NCBICelera
Cytogenetic Map12q24.21NCBI
HuRef12113,407,355 - 113,687,093 (-)NCBIHuRef
CHM1_112116,364,171 - 116,682,739 (-)NCBICHM1_1
T2T-CHM13v2.012115,939,568 - 116,258,754 (-)NCBIT2T-CHM13v2.0
Med13l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395118,698,363 - 118,903,503 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5118,698,744 - 118,903,503 (+)EnsemblGRCm39 Ensembl
GRCm385118,560,330 - 118,765,438 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5118,560,679 - 118,765,438 (+)EnsemblGRCm38mm10GRCm38
MGSCv375119,010,728 - 119,215,447 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365118,821,773 - 119,024,010 (+)NCBIMGSCv36mm8
Celera5115,689,167 - 115,861,251 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map559.1NCBI
Med13l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81243,468,556 - 43,665,819 (-)NCBIGRCr8
mRatBN7.21237,807,596 - 38,004,886 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1237,808,285 - 38,004,473 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01243,421,317 - 43,576,859 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1243,421,308 - 43,576,804 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01245,257,715 - 45,412,653 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41239,136,265 - 39,181,221 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11239,012,458 - 39,153,750 (-)NCBI
Celera1239,469,893 - 39,630,500 (-)NCBICelera
Cytogenetic Map12q16NCBI
Med13l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545514,679,416 - 14,957,532 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545514,679,416 - 14,960,226 (+)NCBIChiLan1.0ChiLan1.0
MED13L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210124,015,884 - 124,335,362 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112124,012,262 - 124,331,735 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012113,531,181 - 113,850,854 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112116,906,557 - 117,187,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12116,909,244 - 117,065,649 (-)Ensemblpanpan1.1panPan2
MED13L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12612,768,762 - 13,031,251 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2612,770,588 - 13,030,512 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2612,764,292 - 13,059,638 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02613,028,568 - 13,324,202 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2613,029,858 - 13,324,593 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12612,990,722 - 13,286,061 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02613,073,281 - 13,365,481 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02613,102,596 - 13,397,898 (-)NCBIUU_Cfam_GSD_1.0
Med13l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118153,190,760 - 153,480,666 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365585,998,754 - 6,289,867 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365585,998,760 - 6,288,666 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED13L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1436,063,644 - 36,383,800 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11436,061,834 - 36,384,567 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21438,298,853 - 38,578,678 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MED13L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111111,245,201 - 111,563,485 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11111,243,753 - 111,563,663 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037133,499,321 - 133,817,563 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Med13l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474716,810,076 - 17,118,088 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474716,810,123 - 17,120,758 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MED13L
1076 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) single nucleotide variant Intellectual disability [RCV001526652] Chr12:115991800 [GRCh38]
Chr12:116429605 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.722A>G (p.Tyr241Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000545051] Chr12:116019876 [GRCh38]
Chr12:116457681 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) single nucleotide variant Rare genetic intellectual disability [RCV001256984]|not provided [RCV000519307] Chr12:116006317 [GRCh38]
Chr12:116444122 [GRCh37]
Chr12:12q24.21		 likely pathogenic|uncertain significance
NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000655964] Chr12:115969010 [GRCh38]
Chr12:116406815 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) single nucleotide variant MED13L-related condition [RCV003928085]|Transposition of the great arteries, dextro-looped [RCV000640146]|not provided [RCV001644725] Chr12:115984252 [GRCh38]
Chr12:116422057 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000640149]|not provided [RCV001200350] Chr12:115984244 [GRCh38]
Chr12:116422049 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000525362]|not provided [RCV001613353] Chr12:116008823 [GRCh38]
Chr12:116446628 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1A>T (p.Met1Leu) single nucleotide variant Global developmental delay [RCV001526632] Chr12:116277131 [GRCh38]
Chr12:116714936 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603057]|not provided [RCV000522464] Chr12:115991526 [GRCh38]
Chr12:116429331 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) single nucleotide variant Inborn genetic diseases [RCV000624395]|not provided [RCV000519168] Chr12:115963489 [GRCh38]
Chr12:116401294 [GRCh37]
Chr12:12q24.21		 pathogenic
NC_000012.11:g.(?_116534454)_(116534577_?)del deletion Transposition of the great arteries, dextro-looped [RCV000524994] Chr12:116534454..116534577 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002272007]|Impaired intellectual development and distinctive facial features with cardiac defects [RCV001777129]|Transposition of the great arteries, dextro-looped [RCV000002187] Chr12:116019846 [GRCh38]
Chr12:116457651 [GRCh37]
Chr12:12q24.21		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000002188] Chr12:115975287 [GRCh38]
Chr12:116413092 [GRCh37]
Chr12:12q24.21		 pathogenic|uncertain significance
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000002189] Chr12:115969097 [GRCh38]
Chr12:116406902 [GRCh37]
Chr12:12q24.21		 pathogenic|uncertain significance
NM_015335.5(MED13L):c.1175+20T>C single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001197310] Chr12:116015089 [GRCh38]
Chr12:116452894 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 copy number loss See cases [RCV000051340] Chr12:116019418..116054358 [GRCh38]
Chr12:116457223..116492163 [GRCh37]
Chr12:114941606..114976546 [NCBI36]
Chr12:12q24.21		 pathogenic
GRCh38/hg38 12q24.21(chr12:116093407-116167581)x1 copy number loss See cases [RCV000051341] Chr12:116093407..116167581 [GRCh38]
Chr12:116531212..116605386 [GRCh37]
Chr12:115015595..115089769 [NCBI36]
Chr12:12q24.21		 pathogenic
GRCh38/hg38 12q24.21-24.22(chr12:116028938-117300100)x3 copy number gain See cases [RCV000051980] Chr12:116028938..117300100 [GRCh38]
Chr12:116466743..117737905 [GRCh37]
Chr12:114951126..116222288 [NCBI36]
Chr12:12q24.21-24.22		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
NM_015335.4(MED13L):c.4761C>T (p.Val1587=) single nucleotide variant Malignant melanoma [RCV000069833] Chr12:115983311 [GRCh38]
Chr12:116421116 [GRCh37]
Chr12:114905499 [NCBI36]
Chr12:12q24.21		 not provided
NM_015335.4(MED13L):c.1596T>C (p.Pro532=) single nucleotide variant Malignant melanoma [RCV000069834] Chr12:116008817 [GRCh38]
Chr12:116446622 [GRCh37]
Chr12:114931005 [NCBI36]
Chr12:12q24.21		 not provided
NM_015335.4(MED13L):c.3700A>T (p.Thr1234Ser) single nucleotide variant Malignant melanoma [RCV000062416] Chr12:115991254 [GRCh38]
Chr12:116429059 [GRCh37]
Chr12:114913442 [NCBI36]
Chr12:12q24.21		 not provided
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter) single nucleotide variant not provided [RCV000657790] Chr12:115983463 [GRCh38]
Chr12:116421268 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.4(MED13L):c.396-2811A>T single nucleotide variant Lung cancer [RCV000110640] Chr12:116099563 [GRCh38]
Chr12:116537368 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000542344] Chr12:116008485 [GRCh38]
Chr12:116446290 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001348437] Chr12:115975186 [GRCh38]
Chr12:116412991 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001332059] Chr12:116096705 [GRCh38]
Chr12:116534510 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe) single nucleotide variant not specified [RCV001290679] Chr12:115970648 [GRCh38]
Chr12:116408453 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser) single nucleotide variant Inborn genetic diseases [RCV003161105]|not provided [RCV001564976] Chr12:115984243 [GRCh38]
Chr12:116422048 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.21(chr12:116038358-116218486)x1 copy number loss See cases [RCV000141928] Chr12:116038358..116218486 [GRCh38]
Chr12:116476163..116656291 [GRCh37]
Chr12:114960546..115140674 [NCBI36]
Chr12:12q24.21		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 12q24.21(chr12:116103617-116165654)x1 copy number loss See cases [RCV000143135] Chr12:116103617..116165654 [GRCh38]
Chr12:116541422..116603459 [GRCh37]
Chr12:115025805..115087842 [NCBI36]
Chr12:12q24.21		 likely pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
t(12;19)(q24.21;q12) translocation Hypertelorism [RCV000203285] Chr12:114971734..114971744 [NCBI36]
Chr19:35769937..35769968 [NCBI36]
Chr12:12q24.21
Chr19:19q12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000207025]|Intellectual disability [RCV000224537] Chr12:115969040..115969047 [GRCh38]
Chr12:116406845..116406852 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.607dup (p.Ser203fs) duplication Impaired intellectual development and distinctive facial features with cardiac defects [RCV001777156] Chr12:116022473..116022474 [GRCh38]
Chr12:116460278..116460279 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) microsatellite Impaired intellectual development and distinctive facial features with cardiac defects [RCV001777155] Chr12:115970711..115970712 [GRCh38]
Chr12:116408516..116408517 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001753738]|not provided [RCV000255571] Chr12:115997210 [GRCh38]
Chr12:116435015 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) single nucleotide variant Inborn genetic diseases [RCV002526114]|MED13L-related condition [RCV003905387]|Transposition of the great arteries, dextro-looped [RCV000543892]|Transposition of the great arteries, dextro-looped [RCV000763795] Chr12:115991437 [GRCh38]
Chr12:116429242 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000207051] Chr12:116060176..116243744 [GRCh38]
Chr12:116497981..116681549 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.480-1G>T single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000207115] Chr12:116022602 [GRCh38]
Chr12:116460407 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NC_000012.12:g.(?_115982183)_(116022795_?)del deletion Impaired intellectual development and distinctive facial features with cardiac defects [RCV001777154] Chr12:115982183..116022795 [GRCh38]
Chr12:116419988..116460600 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3 copy number gain Breast ductal adenocarcinoma [RCV000207032] Chr12:116399137..116714901 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000207251]|Intellectual disability [RCV001257601]|not provided [RCV001568518] Chr12:116008704..116008705 [GRCh38]
Chr12:116446509..116446510 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000207262]|MED13L-Related Disorder [RCV003223397]|not provided [RCV001008828] Chr12:115991189 [GRCh38]
Chr12:116428994 [GRCh37]
Chr12:12q24.21		 pathogenic|not provided
NM_015335.5(MED13L):c.2012+10CT[2] microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002476028]|Transposition of the great arteries, dextro-looped [RCV002060201]|not provided [RCV000514202] Chr12:116008386..116008387 [GRCh38]
Chr12:116446191..116446192 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000209918]|Transposition of the great arteries, dextro-looped [RCV002515569]|not provided [RCV001268238] Chr12:115963422 [GRCh38]
Chr12:116401227 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2504del (p.Pro835fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000515822] Chr12:116003068 [GRCh38]
Chr12:116440873 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000515945]|Transposition of the great arteries, dextro-looped [RCV000687468]|not provided [RCV001537450] Chr12:115997221 [GRCh38]
Chr12:116435026 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.124dup (p.Asp42fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000209902] Chr12:116237653..116237654 [GRCh38]
Chr12:116675458..116675459 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000544142] Chr12:115980798 [GRCh38]
Chr12:116418603 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000231485]|not provided [RCV001711793] Chr12:115983314 [GRCh38]
Chr12:116421119 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) single nucleotide variant MED13L-related condition [RCV003977679]|Transposition of the great arteries, dextro-looped [RCV001082576]|not provided [RCV000515127] Chr12:115983328 [GRCh38]
Chr12:116421133 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002479922]|Transposition of the great arteries, dextro-looped [RCV000232024]|not provided [RCV001618354] Chr12:116012862 [GRCh38]
Chr12:116450667 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.948G>A (p.Lys316=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000230147]|not provided [RCV001565981] Chr12:116019285 [GRCh38]
Chr12:116457090 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002487081]|MED13L-related condition [RCV003919974]|Transposition of the great arteries, dextro-looped [RCV001087088]|not provided [RCV000418348]|not specified [RCV000238804] Chr12:115991442 [GRCh38]
Chr12:116429247 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.6068-8C>T single nucleotide variant Intellectual disability [RCV001328486]|Transposition of the great arteries, dextro-looped [RCV000226253]|not provided [RCV001538883] Chr12:115969105 [GRCh38]
Chr12:116406910 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603045]|not specified [RCV000238637] Chr12:116019948 [GRCh38]
Chr12:116457753 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265311]|not provided [RCV000239101] Chr12:115975659 [GRCh38]
Chr12:116413464 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001982622] Chr12:116008489 [GRCh38]
Chr12:116446294 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) single nucleotide variant Inborn genetic diseases [RCV000622419] Chr12:115966138 [GRCh38]
Chr12:116403943 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1 copy number loss See cases [RCV000240557] Chr12:116497982..116534949 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His) single nucleotide variant not provided [RCV000522127] Chr12:115982384 [GRCh38]
Chr12:116420189 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5285del (p.Leu1762fs) deletion not provided [RCV000303186] Chr12:115980829 [GRCh38]
Chr12:116418634 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002470833]|Intellectual disability [RCV001257602]|not provided [RCV000314337] Chr12:115980836 [GRCh38]
Chr12:116418641 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter) single nucleotide variant not provided [RCV000321993] Chr12:116009077 [GRCh38]
Chr12:116446882 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) duplication not provided [RCV000395678] Chr12:115966184..115966185 [GRCh38]
Chr12:116403989..116403990 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys) single nucleotide variant not provided [RCV003315037] Chr12:115991358 [GRCh38]
Chr12:116429163 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000554815] Chr12:116005984 [GRCh38]
Chr12:116443789 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000532583] Chr12:115961354 [GRCh38]
Chr12:116399159 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn) single nucleotide variant not provided [RCV002283018] Chr12:115961345 [GRCh38]
Chr12:116399150 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1280+1G>A single nucleotide variant not provided [RCV002284960] Chr12:116012796 [GRCh38]
Chr12:116450601 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265315]|not provided [RCV000520418] Chr12:115961343 [GRCh38]
Chr12:116399148 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000530845] Chr12:116003084 [GRCh38]
Chr12:116440889 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile) single nucleotide variant Inborn genetic diseases [RCV000622840]|Transposition of the great arteries, dextro-looped [RCV003497873] Chr12:115991348 [GRCh38]
Chr12:116429153 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265261]|Inborn genetic diseases [RCV000622304] Chr12:116008723 [GRCh38]
Chr12:116446528 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter) single nucleotide variant Inborn genetic diseases [RCV000622719] Chr12:116009052 [GRCh38]
Chr12:116446857 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001169897]|MED13L-related condition [RCV003945897]|Transposition of the great arteries, dextro-looped [RCV001427310]|not provided [RCV001615131] Chr12:116008503 [GRCh38]
Chr12:116446308 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2239-2A>G single nucleotide variant Inborn genetic diseases [RCV000624848] Chr12:116006413 [GRCh38]
Chr12:116444218 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000578378] Chr12:115997200 [GRCh38]
Chr12:116435005 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000655965]|MED13L-related condition [RCV003925430]|Transposition of the great arteries, dextro-looped [RCV001519753]|not provided [RCV000640147] Chr12:116008509 [GRCh38]
Chr12:116446314 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) microsatellite not provided [RCV000599391] Chr12:115991861..115991864 [GRCh38]
Chr12:116429666..116429669 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) single nucleotide variant Inborn genetic diseases [RCV000623508]|Transposition of the great arteries, dextro-looped [RCV002532833] Chr12:116008870 [GRCh38]
Chr12:116446675 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002470928]|not provided [RCV000599561] Chr12:116008416..116008419 [GRCh38]
Chr12:116446221..116446224 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.73-7T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000640151]|not provided [RCV001570164] Chr12:116237712 [GRCh38]
Chr12:116675517 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) microsatellite not provided [RCV000656288] Chr12:115991042..115991043 [GRCh38]
Chr12:116428847..116428848 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.626-2A>G single nucleotide variant not provided [RCV000656314] Chr12:116019974 [GRCh38]
Chr12:116457779 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.878del (p.Pro293fs) deletion not provided [RCV000627501] Chr12:116019355 [GRCh38]
Chr12:116457160 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5732-3C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001082692]|not provided [RCV000733828] Chr12:115972239 [GRCh38]
Chr12:116410044 [GRCh37]
Chr12:12q24.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015335.5(MED13L):c.4956-2A>C single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000415412] Chr12:115982605 [GRCh38]
Chr12:116420410 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4577del (p.Pro1526fs) deletion not provided [RCV000413201] Chr12:115983495 [GRCh38]
Chr12:116421300 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1992dup (p.Glu665fs) duplication not provided [RCV000414148] Chr12:116008420..116008421 [GRCh38]
Chr12:116446225..116446226 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116374312-116535323)x3 copy number gain See cases [RCV000447274] Chr12:116374312..116535323 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001522611]|not provided [RCV000422974]|not specified [RCV001723979] Chr12:116009130 [GRCh38]
Chr12:116446935 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter) single nucleotide variant not provided [RCV000423089] Chr12:116277089 [GRCh38]
Chr12:116714894 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.21-24.23(chr12:116028864-118791808)x1 copy number loss See cases [RCV000445736] Chr12:116028864..118791808 [GRCh37]
Chr12:12q24.21-24.23		 pathogenic
NM_015335.5(MED13L):c.2591T>A (p.Met864Lys) single nucleotide variant not provided [RCV000427272] Chr12:115997209 [GRCh38]
Chr12:116435014 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr) single nucleotide variant not provided [RCV000429083] Chr12:115997195 [GRCh38]
Chr12:116435000 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter) single nucleotide variant not provided [RCV000440181] Chr12:115987172 [GRCh38]
Chr12:116424977 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1 copy number loss not provided [RCV000487467] Chr12:116064267..116750726 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000466806]|not provided [RCV001597145] Chr12:115991504 [GRCh38]
Chr12:116429309 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265312]|not provided [RCV000481300] Chr12:115996558..115996561 [GRCh38]
Chr12:116434363..116434366 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter) single nucleotide variant not provided [RCV000481745] Chr12:116003048 [GRCh38]
Chr12:116440853 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000463434]|not provided [RCV001572726] Chr12:116007593 [GRCh38]
Chr12:116445398 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.626-10C>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000471014]|not provided [RCV001560716] Chr12:116019982 [GRCh38]
Chr12:116457787 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.57C>A (p.Ser19=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001456338] Chr12:116277075 [GRCh38]
Chr12:116714880 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu) single nucleotide variant not provided [RCV000482175] Chr12:115972183 [GRCh38]
Chr12:116409988 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265313]|not provided [RCV000483089] Chr12:115983356 [GRCh38]
Chr12:116421161 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs) duplication not provided [RCV000483420] Chr12:115982475..115982476 [GRCh38]
Chr12:116420280..116420281 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.546G>A (p.Glu182=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000456652] Chr12:116022535 [GRCh38]
Chr12:116460340 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu) single nucleotide variant not provided [RCV000483885] Chr12:115997164 [GRCh38]
Chr12:116434969 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.579T>C (p.Asn193=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000456841]|not provided [RCV001637046] Chr12:116022502 [GRCh38]
Chr12:116460307 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4880A>G (p.Gln1627Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000476094] Chr12:115983192 [GRCh38]
Chr12:116420997 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) single nucleotide variant MED13L-related condition [RCV003915310]|Transposition of the great arteries, dextro-looped [RCV000465066]|not provided [RCV001672793] Chr12:116008550 [GRCh38]
Chr12:116446355 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000472698]|not provided [RCV003392299] Chr12:115991891 [GRCh38]
Chr12:116429696 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1186del (p.Met396fs) deletion not provided [RCV000478224] Chr12:116012891 [GRCh38]
Chr12:116450696 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000457943]|not provided [RCV003392298] Chr12:115991681 [GRCh38]
Chr12:116429486 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000461563]|not provided [RCV001200349] Chr12:115970706 [GRCh38]
Chr12:116408511 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe) single nucleotide variant not provided [RCV000480071] Chr12:115997167 [GRCh38]
Chr12:116434972 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5589-1G>A single nucleotide variant not provided [RCV000487114] Chr12:115975314 [GRCh38]
Chr12:116413119 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4956-10C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001484160] Chr12:115982613 [GRCh38]
Chr12:116420418 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3 copy number gain See cases [RCV000510626] Chr12:116417092..116698142 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) single nucleotide variant MED13L-related condition [RCV003925431]|Transposition of the great arteries, dextro-looped [RCV000640145]|not provided [RCV000761843]|not specified [RCV000498832] Chr12:116019942 [GRCh38]
Chr12:116457747 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3 copy number gain See cases [RCV000510213] Chr12:116318205..116408746 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000496127]|See cases [RCV002252141] Chr12:115982386 [GRCh38]
Chr12:116420191 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5588+1G>A single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000496142] Chr12:115975514 [GRCh38]
Chr12:116413319 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000496190] Chr12:116005938..116005939 [GRCh38]
Chr12:116443743..116443744 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000498077] Chr12:116007590 [GRCh38]
Chr12:116445395 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000497802] Chr12:115984259 [GRCh38]
Chr12:116422064 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000498873] Chr12:115982406..115982407 [GRCh38]
Chr12:116420211..116420212 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) indel Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265309]|Transposition of the great arteries, dextro-looped [RCV000509327] Chr12:115970663..115970665 [GRCh38]
Chr12:116408468..116408470 [GRCh37]
Chr12:12q24.21		 uncertain significance|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg) single nucleotide variant not provided [RCV000497689] Chr12:116008470 [GRCh38]
Chr12:116446275 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265317]|Kabuki-like syndrome [RCV001261220]|not provided [RCV000498424] Chr12:115997203 [GRCh38]
Chr12:116435008 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_015335.5(MED13L):c.1A>G (p.Met1Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265314]|MED13L-Related Disorder [RCV001249234]|not provided [RCV000493631] Chr12:116277131 [GRCh38]
Chr12:116714936 [GRCh37]
Chr12:12q24.21		 pathogenic|not provided
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val) single nucleotide variant not provided [RCV000493680] Chr12:115996542 [GRCh38]
Chr12:116434347 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.6073dup (p.Met2025fs) duplication not provided [RCV000493733] Chr12:115969091..115969092 [GRCh38]
Chr12:116406896..116406897 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265262]|not provided [RCV000494072] Chr12:115984307..115984308 [GRCh38]
Chr12:116422112..116422113 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265257]|MED13L-Related Disorder [RCV003458466]|not provided [RCV000578613] Chr12:115991485 [GRCh38]
Chr12:116429290 [GRCh37]
Chr12:12q24.21		 pathogenic|not provided
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002265810]|not provided [RCV000578733] Chr12:115984255 [GRCh38]
Chr12:116422060 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21(chr12:116299467-116528515)x3 copy number gain See cases [RCV000511771] Chr12:116299467..116528515 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1 copy number loss See cases [RCV000511852] Chr12:116462247..116603459 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000677653] Chr12:115970696 [GRCh38]
Chr12:116408501 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3 copy number gain See cases [RCV000510817] Chr12:116321989..116681294 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4339-10A>G single nucleotide variant MED13L-related condition [RCV003962513]|Transposition of the great arteries, dextro-looped [RCV001400984]|not provided [RCV000532239] Chr12:115984382 [GRCh38]
Chr12:116422187 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000541984]|not provided [RCV001613352] Chr12:116015160 [GRCh38]
Chr12:116452965 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) single nucleotide variant Inborn genetic diseases [RCV000623602] Chr12:115966133 [GRCh38]
Chr12:116403938 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603156]|not provided [RCV003327896] Chr12:115966189 [GRCh38]
Chr12:116403994 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.1744del (p.Leu582fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003326173] Chr12:116008669 [GRCh38]
Chr12:116446474 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000656525] Chr12:116007542 [GRCh38]
Chr12:116445347 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) indel Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265259]|Inborn genetic diseases [RCV000624545] Chr12:116008553..116008555 [GRCh38]
Chr12:116446358..116446360 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) single nucleotide variant Inborn genetic diseases [RCV000624864] Chr12:115972141 [GRCh38]
Chr12:116409946 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5371A>G (p.Ser1791Gly) single nucleotide variant Inborn genetic diseases [RCV003292886] Chr12:115975732 [GRCh38]
Chr12:116413537 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) single nucleotide variant Inborn genetic diseases [RCV002526115]|MED13L-related condition [RCV003942789]|See cases [RCV002252159]|Transposition of the great arteries, dextro-looped [RCV000556168]|not provided [RCV000598209] Chr12:115991088 [GRCh38]
Chr12:116428893 [GRCh37]
Chr12:12q24.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) indel Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000624742] Chr12:116022564..116022565 [GRCh38]
Chr12:116460369..116460370 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) single nucleotide variant Inborn genetic diseases [RCV000622592] Chr12:115966189 [GRCh38]
Chr12:116403994 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3847C>T (p.Arg1283Trp) single nucleotide variant not provided [RCV003312251] Chr12:115991107 [GRCh38]
Chr12:116428912 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-5T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000640150]|not provided [RCV001692244] Chr12:116007641 [GRCh38]
Chr12:116445446 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000556529] Chr12:115975271 [GRCh38]
Chr12:116413076 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser) single nucleotide variant Inborn genetic diseases [RCV003300036] Chr12:116003093 [GRCh38]
Chr12:116440898 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.40C>T (p.Leu14=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000640148]|not provided [RCV001675948] Chr12:116277092 [GRCh38]
Chr12:116714897 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1308C>T (p.Val436=) single nucleotide variant MED13L-related condition [RCV003945613]|Transposition of the great arteries, dextro-looped [RCV000640152] Chr12:116009105 [GRCh38]
Chr12:116446910 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.73-1G>A single nucleotide variant not provided [RCV000656295] Chr12:116237706 [GRCh38]
Chr12:116675511 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp) single nucleotide variant Inborn genetic diseases [RCV000622561] Chr12:115982526 [GRCh38]
Chr12:116420331 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21-24.22(chr12:116421601-117740952)x3 copy number gain See cases [RCV000512569] Chr12:116421601..117740952 [GRCh37]
Chr12:12q24.21-24.22		 uncertain significance
NM_015335.5(MED13L):c.1971del (p.Asp657fs) deletion Motor delay [RCV000626928] Chr12:116008442 [GRCh38]
Chr12:116446247 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3935-2A>G single nucleotide variant Inborn genetic diseases [RCV000623847] Chr12:115987290 [GRCh38]
Chr12:116425095 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) single nucleotide variant Inborn genetic diseases [RCV001265754]|not provided [RCV000658016] Chr12:115984324 [GRCh38]
Chr12:116422129 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic|uncertain significance
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000677655] Chr12:116009071..116009072 [GRCh38]
Chr12:116446876..116446877 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000677654]|Marfanoid habitus and intellectual disability [RCV000850460] Chr12:115987280..115987281 [GRCh38]
Chr12:116425085..116425086 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys) single nucleotide variant Intellectual disability [RCV000681502] Chr12:115991821 [GRCh38]
Chr12:116429626 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1 copy number loss not provided [RCV000683391] Chr12:116481669..116569556 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000687245] Chr12:115991475 [GRCh38]
Chr12:116429280 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) deletion Transposition of the great arteries, dextro-looped [RCV000687897] Chr12:116006333..116006334 [GRCh38]
Chr12:116444138..116444139 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000694349] Chr12:115987146 [GRCh38]
Chr12:116424951 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1176-1G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000700512] Chr12:116012902 [GRCh38]
Chr12:116450707 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3935-1G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000702077] Chr12:115987289 [GRCh38]
Chr12:116425094 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000695306] Chr12:116096697 [GRCh38]
Chr12:116534502 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001488016] Chr12:115982425 [GRCh38]
Chr12:116420230 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000696733] Chr12:116096747 [GRCh38]
Chr12:116534552 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) indel Transposition of the great arteries, dextro-looped [RCV000691849] Chr12:115991433..115991435 [GRCh38]
Chr12:116429238..116429240 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000689489] Chr12:116022480 [GRCh38]
Chr12:116460285 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603099]|not provided [RCV001643804] Chr12:116008966 [GRCh38]
Chr12:116446771 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001779337]|not provided [RCV001773776] Chr12:115982502 [GRCh38]
Chr12:116420307 [GRCh37]
Chr12:12q24.21		 likely pathogenic|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.21(chr12:116498873-116536921)x1 copy number loss not provided [RCV000750590] Chr12:116498873..116536921 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116498873-116621185)x1 copy number loss not provided [RCV000750591] Chr12:116498873..116621185 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116526507-116528428)x1 copy number loss not provided [RCV000750592] Chr12:116526507..116528428 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1 copy number loss not provided [RCV000750593] Chr12:116526507..116536921 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116526663-116528428)x1 copy number loss not provided [RCV000750594] Chr12:116526663..116528428 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2570-7T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003103850] Chr12:115997237 [GRCh38]
Chr12:116435042 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5891-284G>A single nucleotide variant not provided [RCV001584846] Chr12:115971054 [GRCh38]
Chr12:116408859 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.73-5del deletion not provided [RCV000914029] Chr12:116237710 [GRCh38]
Chr12:116675515 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5176-33G>T single nucleotide variant not provided [RCV001610033] Chr12:115980971 [GRCh38]
Chr12:116418776 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.395+26G>A single nucleotide variant not provided [RCV001666153] Chr12:116111402 [GRCh38]
Chr12:116549207 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001542328] Chr12:115991922 [GRCh38]
Chr12:116429727 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001542678] Chr12:115983280 [GRCh38]
Chr12:116421085 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1175+5G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000874524]|not provided [RCV001538243] Chr12:116015104 [GRCh38]
Chr12:116452909 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys) single nucleotide variant not provided [RCV001583627] Chr12:115986369 [GRCh38]
Chr12:116424174 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) single nucleotide variant MED13L-related condition [RCV003941076]|Transposition of the great arteries, dextro-looped [RCV002073231]|not provided [RCV001690554] Chr12:115991624 [GRCh38]
Chr12:116429429 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.240C>T (p.Cys80=) single nucleotide variant not provided [RCV000919749] Chr12:116237538 [GRCh38]
Chr12:116675343 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) single nucleotide variant MED13L-related condition [RCV003910915]|Transposition of the great arteries, dextro-looped [RCV002570837]|not provided [RCV001586431] Chr12:115991519 [GRCh38]
Chr12:116429324 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001706829] Chr12:115961322 [GRCh38]
Chr12:116399127 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4224G>T (p.Leu1408Phe) single nucleotide variant not provided [RCV000761839] Chr12:115986380 [GRCh38]
Chr12:116424185 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4115-7A>T single nucleotide variant not provided [RCV000761840] Chr12:115986496 [GRCh38]
Chr12:116424301 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002533886]|not provided [RCV000761841] Chr12:115991456 [GRCh38]
Chr12:116429261 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.1029G>C (p.Gln343His) single nucleotide variant not provided [RCV000761842] Chr12:116015255 [GRCh38]
Chr12:116453060 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000760216]|not provided [RCV001091429] Chr12:115963419 [GRCh38]
Chr12:116401224 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.5502del (p.His1834fs) deletion Transposition of the great arteries, dextro-looped [RCV000760236] Chr12:115975601 [GRCh38]
Chr12:116413406 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter) single nucleotide variant not provided [RCV000760678] Chr12:115972102 [GRCh38]
Chr12:116409907 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter) single nucleotide variant not provided [RCV000760698] Chr12:115987163 [GRCh38]
Chr12:116424968 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4108_4114+3del deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003315112] Chr12:115987106..115987115 [GRCh38]
Chr12:116424911..116424920 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5972C>T (p.Ala1991Val) single nucleotide variant not provided [RCV003312250] Chr12:115970689 [GRCh38]
Chr12:116408494 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6225+20C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002538586]|not provided [RCV001666757] Chr12:115968920 [GRCh38]
Chr12:116406725 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002495240]|Transposition of the great arteries, dextro-looped [RCV000864104]|not provided [RCV001675968] Chr12:115983479 [GRCh38]
Chr12:116421284 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2352G>T (p.Arg784=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001474107] Chr12:116005986 [GRCh38]
Chr12:116443791 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) single nucleotide variant MED13L-related condition [RCV003965735]|Transposition of the great arteries, dextro-looped [RCV001418777]|not provided [RCV000869888] Chr12:115991202 [GRCh38]
Chr12:116429007 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1059T>C (p.Asp353=) single nucleotide variant not provided [RCV000914565] Chr12:116015225 [GRCh38]
Chr12:116453030 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.690A>G (p.Pro230=) single nucleotide variant not provided [RCV000927539] Chr12:116019908 [GRCh38]
Chr12:116457713 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.60C>T (p.Asn20=) single nucleotide variant not provided [RCV000866873] Chr12:116277072 [GRCh38]
Chr12:116714877 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1198A>G (p.Thr400Ala) single nucleotide variant MED13L-related condition [RCV003975395]|not provided [RCV000863378] Chr12:116012879 [GRCh38]
Chr12:116450684 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1503A>G (p.Gln501=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603079] Chr12:116008910 [GRCh38]
Chr12:116446715 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000866856]|not provided [RCV001779092] Chr12:115991885 [GRCh38]
Chr12:116429690 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497885] Chr12:115991120 [GRCh38]
Chr12:116428925 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1044C>T (p.His348=) single nucleotide variant not provided [RCV000921557] Chr12:116015240 [GRCh38]
Chr12:116453045 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002536280]|not provided [RCV000865717] Chr12:115982501 [GRCh38]
Chr12:116420306 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002536254] Chr12:116009097 [GRCh38]
Chr12:116446902 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) single nucleotide variant MED13L-related condition [RCV003943284]|Transposition of the great arteries, dextro-looped [RCV002068704]|not provided [RCV000981664] Chr12:115972159 [GRCh38]
Chr12:116409964 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=) single nucleotide variant MED13L-related condition [RCV003948130]|Transposition of the great arteries, dextro-looped [RCV001511956] Chr12:115983305 [GRCh38]
Chr12:116421110 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1785G>C (p.Leu595=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000981177] Chr12:116008628 [GRCh38]
Chr12:116446433 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5040C>T (p.Tyr1680=) single nucleotide variant not provided [RCV000904846] Chr12:115982519 [GRCh38]
Chr12:116420324 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001503104]|not provided [RCV000866175] Chr12:115984315 [GRCh38]
Chr12:116422120 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471001]|Inborn genetic diseases [RCV002549610]|Transposition of the great arteries, dextro-looped [RCV000983880]|not provided [RCV001573090] Chr12:115983381 [GRCh38]
Chr12:116421186 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497884] Chr12:115984325 [GRCh38]
Chr12:116422130 [GRCh37]
Chr12:12q24.21		 likely benign
NC_000012.12:g.(?_115961246)_(116096772_?)del deletion Transposition of the great arteries, dextro-looped [RCV001033546] Chr12:116399051..116534577 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2791-3C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001059762] Chr12:115996684 [GRCh38]
Chr12:116434489 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001542308]|Transposition of the great arteries, dextro-looped [RCV001059764] Chr12:116015157 [GRCh38]
Chr12:116452962 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001034404] Chr12:116015193 [GRCh38]
Chr12:116452998 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001060426] Chr12:115982571 [GRCh38]
Chr12:116420376 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
GRCh37/hg19 12q24.21(chr12:116446308-116638445) copy number loss Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000767571] Chr12:116446308..116638445 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs) duplication Transposition of the great arteries, dextro-looped [RCV000796207] Chr12:115961328..115961329 [GRCh38]
Chr12:116399133..116399134 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3934+3A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000805799]|not provided [RCV001585732] Chr12:115991017 [GRCh38]
Chr12:116428822 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs) deletion not provided [RCV000782043] Chr12:116015174..116015175 [GRCh38]
Chr12:116452979..116452980 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116622732-116685976) copy number loss Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000767749] Chr12:116622732..116685976 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000768427] Chr12:115966209 [GRCh38]
Chr12:116404014 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) single nucleotide variant Inborn genetic diseases [RCV002536241]|MED13L-related condition [RCV003948081]|Transposition of the great arteries, dextro-looped [RCV000863034]|not provided [RCV001683672] Chr12:116008536 [GRCh38]
Chr12:116446341 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000861660]|not provided [RCV001664492] Chr12:116008688 [GRCh38]
Chr12:116446493 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.72+10C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064491]|not provided [RCV000864390] Chr12:116277050 [GRCh38]
Chr12:116714855 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603078] Chr12:115991648 [GRCh38]
Chr12:116429453 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002538949] Chr12:115961377 [GRCh38]
Chr12:116399182 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) single nucleotide variant not provided [RCV000868972] Chr12:115972200 [GRCh38]
Chr12:116410005 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000897692] Chr12:115986329 [GRCh38]
Chr12:116424134 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001399639]|not provided [RCV000866377] Chr12:115966121 [GRCh38]
Chr12:116403926 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.626-4A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001506173] Chr12:116019976 [GRCh38]
Chr12:116457781 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001460388] Chr12:115975694 [GRCh38]
Chr12:116413499 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.771C>T (p.Asp257=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064516]|not provided [RCV000865515] Chr12:116019827 [GRCh38]
Chr12:116457632 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) single nucleotide variant MED13L-related condition [RCV003908149]|Transposition of the great arteries, dextro-looped [RCV000861075]|not provided [RCV001615058] Chr12:115991196 [GRCh38]
Chr12:116429001 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002066381] Chr12:115991456 [GRCh38]
Chr12:116429261 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001809865]|MED13L-related condition [RCV003948073]|Transposition of the great arteries, dextro-looped [RCV000862580]|not provided [RCV001683671] Chr12:116019355 [GRCh38]
Chr12:116457160 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002538959]|not provided [RCV000865611] Chr12:115984189 [GRCh38]
Chr12:116421994 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4868C>T (p.Ala1623Val) single nucleotide variant not provided [RCV000863856] Chr12:115983204 [GRCh38]
Chr12:116421009 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4353G>A (p.Gly1451=) single nucleotide variant not provided [RCV000860806] Chr12:115984358 [GRCh38]
Chr12:116422163 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000824866] Chr12:116007584 [GRCh38]
Chr12:116445389 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000791163] Chr12:115991436 [GRCh38]
Chr12:116429241 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002487908]|Transposition of the great arteries, dextro-looped [RCV001426006] Chr12:115983284 [GRCh38]
Chr12:116421089 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) single nucleotide variant MED13L-related condition [RCV003930378]|Transposition of the great arteries, dextro-looped [RCV002064629]|not provided [RCV003884768] Chr12:115997022 [GRCh38]
Chr12:116434827 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000796350] Chr12:116012817 [GRCh38]
Chr12:116450622 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001463899]|not provided [RCV000869794] Chr12:115991600 [GRCh38]
Chr12:116429405 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000793090] Chr12:115982397 [GRCh38]
Chr12:116420202 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.2345-3C>G single nucleotide variant Intellectual disability [RCV000851505] Chr12:116005996 [GRCh38]
Chr12:116443801 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3 copy number gain not provided [RCV000847909] Chr12:116326288..116417238 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) single nucleotide variant Inborn genetic diseases [RCV002534888]|Transposition of the great arteries, dextro-looped [RCV000816160] Chr12:115991166 [GRCh38]
Chr12:116428971 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001046307] Chr12:115987117 [GRCh38]
Chr12:116424922 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21-24.22(chr12:116416809-117740952)x3 copy number gain not provided [RCV001006533] Chr12:116416809..117740952 [GRCh37]
Chr12:12q24.21-24.22		 uncertain significance
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000797433] Chr12:115966158 [GRCh38]
Chr12:116403963 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.2682A>G (p.Ala894=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000861376] Chr12:115997118 [GRCh38]
Chr12:116434923 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg) single nucleotide variant not provided [RCV003314965] Chr12:115996564 [GRCh38]
Chr12:116434369 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5502C>T (p.His1834=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064438]|not provided [RCV000861709] Chr12:115975601 [GRCh38]
Chr12:116413406 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.501C>T (p.Phe167=) single nucleotide variant not provided [RCV000871955] Chr12:116022580 [GRCh38]
Chr12:116460385 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) single nucleotide variant MED13L-related condition [RCV003955586]|Transposition of the great arteries, dextro-looped [RCV000862290]|not provided [RCV001692299] Chr12:116019225 [GRCh38]
Chr12:116457030 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs) insertion MED13L-related neurodevelopmental disorder [RCV001095760] Chr12:116007558..116007559 [GRCh38]
Chr12:116445363..116445364 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) microsatellite not provided [RCV001008520] Chr12:115984298..115984299 [GRCh38]
Chr12:116422103..116422104 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2581T>C (p.Leu861=) single nucleotide variant not provided [RCV000976075] Chr12:115997219 [GRCh38]
Chr12:116435024 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3 copy number gain not provided [RCV001006534] Chr12:116417092..116639877 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064639]|not provided [RCV000870116] Chr12:115991135 [GRCh38]
Chr12:116428940 [GRCh37]
Chr12:12q24.21		 benign|likely benign
GRCh37/hg19 12q24.21-24.22(chr12:116551934-117093172)x3 copy number gain not provided [RCV000848465] Chr12:116551934..117093172 [GRCh37]
Chr12:12q24.21-24.22		 uncertain significance
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3 copy number gain not provided [RCV000849471] Chr12:116327565..116409453 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) single nucleotide variant Autism spectrum disorder [RCV001291369]|Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265126]|not provided [RCV001008662] Chr12:115987147 [GRCh38]
Chr12:116424952 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1 copy number loss See cases [RCV001007438] Chr12:116443463..116457804 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1 copy number loss not provided [RCV001006535] Chr12:116503127..116558092 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) single nucleotide variant Inborn genetic diseases [RCV002570378]|MED13L-related condition [RCV003918803]|Transposition of the great arteries, dextro-looped [RCV001248407]|not provided [RCV001529624] Chr12:116019264 [GRCh38]
Chr12:116457069 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter) single nucleotide variant not provided [RCV001171896] Chr12:115966102 [GRCh38]
Chr12:116403907 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) deletion not provided [RCV001008587] Chr12:116008465..116008472 [GRCh38]
Chr12:116446270..116446277 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001205743]|not provided [RCV001565398] Chr12:116022508 [GRCh38]
Chr12:116460313 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) indel Transposition of the great arteries, dextro-looped [RCV001241809] Chr12:115986314..115986315 [GRCh38]
Chr12:116424119..116424120 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001196006] Chr12:115983450 [GRCh38]
Chr12:116421255 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile) single nucleotide variant Inborn genetic diseases [RCV003246309] Chr12:116019247 [GRCh38]
Chr12:116457052 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.735G>T (p.Met245Ile) single nucleotide variant not provided [RCV003313563] Chr12:116019863 [GRCh38]
Chr12:116457668 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV000995578] Chr12:116019850..116019851 [GRCh38]
Chr12:116457655..116457656 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1 copy number loss not provided [RCV001006536] Chr12:116528514..116605811 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002554833]|not provided [RCV001091432] Chr12:115986310 [GRCh38]
Chr12:116424115 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.6461dup (p.His2155fs) duplication not provided [RCV001008273] Chr12:115963445..115963446 [GRCh38]
Chr12:116401250..116401251 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly) single nucleotide variant MED13L-related neurodevelopmental disorder [RCV001249743] Chr12:116019238 [GRCh38]
Chr12:116457043 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.401dup (p.Met135fs) duplication not provided [RCV001009129] Chr12:116096746..116096747 [GRCh38]
Chr12:116534551..116534552 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4956-11TC[3] microsatellite Transposition of the great arteries, dextro-looped [RCV003105208] Chr12:115982607..115982608 [GRCh38]
Chr12:116420412..116420413 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.1280+11A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003104379] Chr12:116012786 [GRCh38]
Chr12:116450591 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu) single nucleotide variant not provided [RCV003230117] Chr12:115991685 [GRCh38]
Chr12:116429490 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4532-257C>G single nucleotide variant not provided [RCV001549876] Chr12:115983797 [GRCh38]
Chr12:116421602 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.201C>T (p.Asn67=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002071997]|not provided [RCV001546394] Chr12:116237577 [GRCh38]
Chr12:116675382 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2469+34C>T single nucleotide variant not provided [RCV001569782] Chr12:116005835 [GRCh38]
Chr12:116443640 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003106718] Chr12:115975205 [GRCh38]
Chr12:116413010 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002070459]|not provided [RCV001590771] Chr12:116005987 [GRCh38]
Chr12:116443792 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.72+27G>C single nucleotide variant not provided [RCV001673809] Chr12:116277033 [GRCh38]
Chr12:116714838 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.73-179G>C single nucleotide variant not provided [RCV001721874] Chr12:116237884 [GRCh38]
Chr12:116675689 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5364+182A>G single nucleotide variant not provided [RCV001721879] Chr12:115980568 [GRCh38]
Chr12:116418373 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.625+41C>T single nucleotide variant not provided [RCV001576999] Chr12:116022415 [GRCh38]
Chr12:116460220 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.72+42G>C single nucleotide variant not provided [RCV001693429] Chr12:116277018 [GRCh38]
Chr12:116714823 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.73-147C>T single nucleotide variant not provided [RCV001577102] Chr12:116237852 [GRCh38]
Chr12:116675657 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.395+59G>A single nucleotide variant not provided [RCV001562396] Chr12:116111369 [GRCh38]
Chr12:116549174 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2469+211T>C single nucleotide variant not provided [RCV001656421] Chr12:116005658 [GRCh38]
Chr12:116443463 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5365-292T>C single nucleotide variant not provided [RCV001571688] Chr12:115976030 [GRCh38]
Chr12:116413835 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2012+48G>A single nucleotide variant not provided [RCV001551846] Chr12:116008353 [GRCh38]
Chr12:116446158 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=) single nucleotide variant not provided [RCV001563214] Chr12:115975541 [GRCh38]
Chr12:116413346 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1010-32A>G single nucleotide variant not provided [RCV001530696] Chr12:116015306 [GRCh38]
Chr12:116453111 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2997-159dup duplication not provided [RCV001545979] Chr12:115992104..115992105 [GRCh38]
Chr12:116429909..116429910 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2570-334C>T single nucleotide variant not provided [RCV001687870] Chr12:115997564 [GRCh38]
Chr12:116435369 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1176-212A>C single nucleotide variant not provided [RCV001670506] Chr12:116013113 [GRCh38]
Chr12:116450918 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) single nucleotide variant not provided [RCV001531174] Chr12:115986374 [GRCh38]
Chr12:116424179 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) single nucleotide variant Inborn genetic diseases [RCV002538901]|MED13L-related condition [RCV003948059]|Transposition of the great arteries, dextro-looped [RCV000861515]|not provided [RCV001595047] Chr12:115983219 [GRCh38]
Chr12:116421024 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) single nucleotide variant MED13L-related condition [RCV003908159]|Transposition of the great arteries, dextro-looped [RCV000861529]|not provided [RCV001619845] Chr12:116015189 [GRCh38]
Chr12:116452994 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5949T>C (p.Ser1983=) single nucleotide variant not provided [RCV000872990] Chr12:115970712 [GRCh38]
Chr12:116408517 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000952200]|not provided [RCV001619865] Chr12:115972166 [GRCh38]
Chr12:116409971 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000862652] Chr12:115975244 [GRCh38]
Chr12:116413049 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3714T>G (p.Ala1238=) single nucleotide variant MED13L-related condition [RCV003892821]|not provided [RCV000866878] Chr12:115991240 [GRCh38]
Chr12:116429045 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064429] Chr12:115982570 [GRCh38]
Chr12:116420375 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002064568] Chr12:115984343 [GRCh38]
Chr12:116422148 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2604A>G (p.Pro868=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002538990] Chr12:115997196 [GRCh38]
Chr12:116435001 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.150A>T (p.Pro50=) single nucleotide variant not provided [RCV000930035] Chr12:116237628 [GRCh38]
Chr12:116675433 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471000]|Inborn genetic diseases [RCV002549572]|Transposition of the great arteries, dextro-looped [RCV000981717]|not provided [RCV001573231] Chr12:115983375 [GRCh38]
Chr12:116421180 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.311-4dup duplication Transposition of the great arteries, dextro-looped [RCV001464790]|not provided [RCV003392637] Chr12:116111515..116111516 [GRCh38]
Chr12:116549320..116549321 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1010-4dup duplication Transposition of the great arteries, dextro-looped [RCV001471009]|not provided [RCV000877206] Chr12:116015277..116015278 [GRCh38]
Chr12:116453082..116453083 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001407281] Chr12:116009028 [GRCh38]
Chr12:116446833 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2871G>A (p.Pro957=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001440353] Chr12:115996601 [GRCh38]
Chr12:116434406 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1914C>T (p.Leu638=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001405969] Chr12:116008499 [GRCh38]
Chr12:116446304 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1 copy number loss not provided [RCV001092707] Chr12:116534474..116549317 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser) single nucleotide variant not provided [RCV001200351] Chr12:115991493 [GRCh38]
Chr12:116429298 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001238003] Chr12:116007635 [GRCh38]
Chr12:116445440 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV000891128] Chr12:115963421 [GRCh38]
Chr12:116401226 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4956-5T>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001391793]|not provided [RCV000913847] Chr12:115982608 [GRCh38]
Chr12:116420413 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT insertion not provided [RCV000889984] Chr12:116007643..116007644 [GRCh38]
Chr12:116445448..116445449 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4115-10G>C single nucleotide variant not provided [RCV000934239] Chr12:115986499 [GRCh38]
Chr12:116424304 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001730061] Chr12:115969014 [GRCh38]
Chr12:116406819 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5365-135A>G single nucleotide variant not provided [RCV001557482] Chr12:115975873 [GRCh38]
Chr12:116413678 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp) single nucleotide variant not provided [RCV003230038] Chr12:115975215 [GRCh38]
Chr12:116413020 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr) single nucleotide variant not provided [RCV003236015] Chr12:115997024 [GRCh38]
Chr12:116434829 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603097]|not provided [RCV001575285] Chr12:115991875 [GRCh38]
Chr12:116429680 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-10T>G single nucleotide variant not provided [RCV001563549] Chr12:116007646 [GRCh38]
Chr12:116445451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1516C>T (p.Gln506Ter) single nucleotide variant MED13L-related neurodevelopmental disorder [RCV001563595] Chr12:116008897 [GRCh38]
Chr12:116446702 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5891-42G>C single nucleotide variant not provided [RCV001595569] Chr12:115970812 [GRCh38]
Chr12:116408617 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2570-74T>A single nucleotide variant not provided [RCV001721877] Chr12:115997304 [GRCh38]
Chr12:116435109 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6067+142T>A single nucleotide variant not provided [RCV001721881] Chr12:115970452 [GRCh38]
Chr12:116408257 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6388-2A>G single nucleotide variant not provided [RCV000994994] Chr12:115963521 [GRCh38]
Chr12:116401326 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) single nucleotide variant not provided [RCV000994995] Chr12:115980793 [GRCh38]
Chr12:116418598 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4955+139A>G single nucleotide variant not provided [RCV001558834] Chr12:115982978 [GRCh38]
Chr12:116420783 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2570-107C>T single nucleotide variant not provided [RCV001552664] Chr12:115997337 [GRCh38]
Chr12:116435142 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002251297] Chr12:115991606..115991607 [GRCh38]
Chr12:116429411..116429412 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.479+35C>T single nucleotide variant not provided [RCV001553101] Chr12:116096634 [GRCh38]
Chr12:116534439 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002538548]|not provided [RCV001665431] Chr12:115975238 [GRCh38]
Chr12:116413043 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.746dup (p.Lys250fs) duplication See cases [RCV002252502] Chr12:116019851..116019852 [GRCh38]
Chr12:116457656..116457657 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4956-40A>G single nucleotide variant not provided [RCV001596118] Chr12:115982643 [GRCh38]
Chr12:116420448 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4955+16A>T single nucleotide variant not specified [RCV002470099] Chr12:115983101 [GRCh38]
Chr12:116420906 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5365-22T>A single nucleotide variant not provided [RCV001565758] Chr12:115975760 [GRCh38]
Chr12:116413565 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5364+1G>T single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002465413] Chr12:115980749 [GRCh38]
Chr12:116418554 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1280+305T>G single nucleotide variant not provided [RCV001555843] Chr12:116012492 [GRCh38]
Chr12:116450297 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4956-71del deletion not provided [RCV001689390] Chr12:115982674 [GRCh38]
Chr12:116420479 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2997-139A>C single nucleotide variant not provided [RCV001636442] Chr12:115992096 [GRCh38]
Chr12:116429901 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn) single nucleotide variant not provided [RCV002466969] Chr12:115991503 [GRCh38]
Chr12:116429308 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr) single nucleotide variant Inborn genetic diseases [RCV003253524]|Transposition of the great arteries, dextro-looped [RCV003603155] Chr12:115997095 [GRCh38]
Chr12:116434900 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471856] Chr12:116015212 [GRCh38]
Chr12:116453017 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471775] Chr12:115991570..115991571 [GRCh38]
Chr12:116429375..116429376 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4087del (p.His1363fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471765]|Inborn genetic diseases [RCV002571463] Chr12:115987136 [GRCh38]
Chr12:116424941 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471774] Chr12:115983378 [GRCh38]
Chr12:116421183 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2013-1G>T single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471815] Chr12:116007637 [GRCh38]
Chr12:116445442 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5731+54A>G single nucleotide variant not provided [RCV001675116] Chr12:115975117 [GRCh38]
Chr12:116412922 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2012+47G>C single nucleotide variant not provided [RCV001620133] Chr12:116008354 [GRCh38]
Chr12:116446159 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1280+138T>C single nucleotide variant not provided [RCV001723101] Chr12:116012659 [GRCh38]
Chr12:116450464 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497932]|not provided [RCV001723448] Chr12:115961350 [GRCh38]
Chr12:116399155 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2997-27C>T single nucleotide variant not provided [RCV001673308] Chr12:115991984 [GRCh38]
Chr12:116429789 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) single nucleotide variant MED13L-related condition [RCV003910933]|Transposition of the great arteries, dextro-looped [RCV002538514]|not provided [RCV001620195] Chr12:115983465 [GRCh38]
Chr12:116421270 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.*11A>G single nucleotide variant not provided [RCV001676372] Chr12:115961255 [GRCh38]
Chr12:116399060 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-10del deletion not provided [RCV001649330] Chr12:116007646 [GRCh38]
Chr12:116445451 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001637968]|not provided [RCV003227982] Chr12:115975207 [GRCh38]
Chr12:116413012 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1010-14G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002077125]|not provided [RCV001656427] Chr12:116015288 [GRCh38]
Chr12:116453093 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4956-50C>T single nucleotide variant not provided [RCV001614717] Chr12:115982653 [GRCh38]
Chr12:116420458 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003771799]|not provided [RCV001594134] Chr12:116019867 [GRCh38]
Chr12:116457672 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.5731+55T>A single nucleotide variant not provided [RCV001614987] Chr12:115975116 [GRCh38]
Chr12:116412921 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter) single nucleotide variant not provided [RCV001658901] Chr12:116022528 [GRCh38]
Chr12:116460333 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2239-16T>C single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002501979]|Transposition of the great arteries, dextro-looped [RCV002072943]|not provided [RCV001638314] Chr12:116006427 [GRCh38]
Chr12:116444232 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-29_2013-28dup duplication not provided [RCV001676583] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) single nucleotide variant Intellectual disability [RCV001252063]|Transposition of the great arteries, dextro-looped [RCV003497917] Chr12:115961319 [GRCh38]
Chr12:116399124 [GRCh37]
Chr12:12q24.21		 benign|likely benign
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3 copy number gain not provided [RCV001006532] Chr12:116414991..116639877 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253239] Chr12:115982440 [GRCh38]
Chr12:116420245 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002554832]|not provided [RCV001091431] Chr12:115972118 [GRCh38]
Chr12:116409923 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001027687] Chr12:115991472 [GRCh38]
Chr12:116429277 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001192633] Chr12:115980844..115980845 [GRCh38]
Chr12:116418649..116418650 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001044198]|not provided [RCV002221604] Chr12:115996640 [GRCh38]
Chr12:116434445 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter) single nucleotide variant not provided [RCV001091853] Chr12:116008993 [GRCh38]
Chr12:116446798 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001067767] Chr12:115991607 [GRCh38]
Chr12:116429412 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter) single nucleotide variant not provided [RCV001171598] Chr12:115983258 [GRCh38]
Chr12:116421063 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5176-274G>A single nucleotide variant not provided [RCV001693901] Chr12:115981212 [GRCh38]
Chr12:116419017 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.73-45G>C single nucleotide variant not provided [RCV001613776] Chr12:116237750 [GRCh38]
Chr12:116675555 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-29_2013-27dup duplication not provided [RCV001614992]|not specified [RCV001732222] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4338+22T>C single nucleotide variant not provided [RCV001724591] Chr12:115986244 [GRCh38]
Chr12:116424049 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.*285T>C single nucleotide variant not provided [RCV001585333] Chr12:115960981 [GRCh38]
Chr12:116398786 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-29dup duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002506707]|not provided [RCV001649087]|not specified [RCV001821938] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) single nucleotide variant Intellectual disability [RCV001171634]|Transposition of the great arteries, dextro-looped [RCV001047664] Chr12:116237515 [GRCh38]
Chr12:116675320 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.395+60A>G single nucleotide variant not provided [RCV001534047] Chr12:116111368 [GRCh38]
Chr12:116549173 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5365-330A>T single nucleotide variant not provided [RCV001612134] Chr12:115976068 [GRCh38]
Chr12:116413873 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132528]|Transposition of the great arteries, dextro-looped [RCV002073252]|not provided [RCV001693576] Chr12:116008443 [GRCh38]
Chr12:116446248 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.5891-171A>G single nucleotide variant not provided [RCV001545637] Chr12:115970941 [GRCh38]
Chr12:116408746 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.72+41dup duplication not provided [RCV001685621] Chr12:116277010..116277011 [GRCh38]
Chr12:116714815..116714816 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001198571] Chr12:116019853 [GRCh38]
Chr12:116457658 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001218716] Chr12:116019886 [GRCh38]
Chr12:116457691 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001230338] Chr12:115983496 [GRCh38]
Chr12:116421301 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln) single nucleotide variant not provided [RCV001091430] Chr12:115970740 [GRCh38]
Chr12:116408545 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002554834]|not provided [RCV001091433] Chr12:116008558 [GRCh38]
Chr12:116446363 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001057568] Chr12:115970722 [GRCh38]
Chr12:116408527 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001217318] Chr12:115991287 [GRCh38]
Chr12:116429092 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001205373]|not provided [RCV003223703] Chr12:116019793 [GRCh38]
Chr12:116457598 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2061G>T (p.Gln687His) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001199341] Chr12:116007588 [GRCh38]
Chr12:116445393 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) deletion Transposition of the great arteries, dextro-looped [RCV001249646] Chr12:116015191..116015207 [GRCh38]
Chr12:116452996..116453012 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.603G>T (p.Gln201His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001036208] Chr12:116022478 [GRCh38]
Chr12:116460283 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.34del (p.Ala12fs) deletion not provided [RCV001008837] Chr12:116277098 [GRCh38]
Chr12:116714903 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) single nucleotide variant MED13L-related condition [RCV003928784]|Transposition of the great arteries, dextro-looped [RCV001205200]|not provided [RCV003393882] Chr12:115991740 [GRCh38]
Chr12:116429545 [GRCh37]
Chr12:12q24.21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001196515] Chr12:115975720 [GRCh38]
Chr12:116413525 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) single nucleotide variant Inborn genetic diseases [RCV003353141]|Transposition of the great arteries, dextro-looped [RCV001063384] Chr12:115983165 [GRCh38]
Chr12:116420970 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter) single nucleotide variant Global developmental delay [RCV001255397]|Transposition of the great arteries, dextro-looped [RCV002570590] Chr12:116015149 [GRCh38]
Chr12:116452954 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala) single nucleotide variant Intellectual disability [RCV001252062] Chr12:115983361 [GRCh38]
Chr12:116421166 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001252064] Chr12:115991669..115991670 [GRCh38]
Chr12:116429474..116429475 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253317] Chr12:115975269..115975276 [GRCh38]
Chr12:116413074..116413081 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1010-6T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003106815] Chr12:116015280 [GRCh38]
Chr12:116453085 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253671] Chr12:115966195 [GRCh38]
Chr12:116404000 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg) single nucleotide variant Intellectual disability [RCV001252061] Chr12:115975272 [GRCh38]
Chr12:116413077 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.760_1175+967del deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253186] Chr12:116014142..116019838 [GRCh38]
Chr12:116451947..116457643 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253521] Chr12:115991236 [GRCh38]
Chr12:116429041 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253558]|Inborn genetic diseases [RCV003246820] Chr12:116006320 [GRCh38]
Chr12:116444125 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253744] Chr12:115983379 [GRCh38]
Chr12:116421184 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2996+1G>A single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001253414]|not provided [RCV002279969] Chr12:115996475 [GRCh38]
Chr12:116434280 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs) deletion Rare genetic intellectual disability [RCV001257014] Chr12:116015118..116015122 [GRCh38]
Chr12:116452923..116452927 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter) single nucleotide variant Intellectual disability [RCV001257598] Chr12:116237605 [GRCh38]
Chr12:116675410 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter) single nucleotide variant Intellectual disability [RCV001257649] Chr12:115986481 [GRCh38]
Chr12:116424286 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1496dup (p.Met499fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001258350] Chr12:116008916..116008917 [GRCh38]
Chr12:116446721..116446722 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro) single nucleotide variant Rare genetic intellectual disability [RCV001256983] Chr12:115984353 [GRCh38]
Chr12:116422158 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) single nucleotide variant Inborn genetic diseases [RCV001266276] Chr12:115969086 [GRCh38]
Chr12:116406891 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4114+249T>C single nucleotide variant not provided [RCV001663268] Chr12:115986860 [GRCh38]
Chr12:116424665 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265260] Chr12:115986484 [GRCh38]
Chr12:116424289 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.293_294del (p.Ile98fs) deletion Inborn genetic diseases [RCV001267191] Chr12:116237484..116237485 [GRCh38]
Chr12:116675289..116675290 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg) single nucleotide variant Inborn genetic diseases [RCV001267199] Chr12:115991265 [GRCh38]
Chr12:116429070 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.987del (p.Ser330fs) deletion Rare genetic intellectual disability [RCV001256987] Chr12:116019246 [GRCh38]
Chr12:116457051 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1 copy number loss Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265127] Chr12:116673140..116676995 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6226-1G>C single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265128] Chr12:115966244 [GRCh38]
Chr12:116404049 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.392_395del (p.Glu131fs) deletion Intellectual disability [RCV001257651] Chr12:116111428..116111431 [GRCh38]
Chr12:116549233..116549236 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001499619]|not provided [RCV001311319] Chr12:115982507 [GRCh38]
Chr12:116420312 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001262288] Chr12:115991727 [GRCh38]
Chr12:116429532 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs) deletion Chromatinopathy [RCV001261221] Chr12:115984238..115984244 [GRCh38]
Chr12:116422043..116422049 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.395+1G>A single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001775161]|Intellectual disability [RCV001257600] Chr12:116111427 [GRCh38]
Chr12:116549232 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265256] Chr12:115987140 [GRCh38]
Chr12:116424945 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265258]|Transposition of the great arteries, dextro-looped [RCV001336285] Chr12:115970670..115970671 [GRCh38]
Chr12:116408475..116408476 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265310]|not provided [RCV001587304] Chr12:115975204 [GRCh38]
Chr12:116413009 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001290360] Chr12:115984294 [GRCh38]
Chr12:116422099 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001262286] Chr12:115975272..115975277 [GRCh38]
Chr12:116413077..116413082 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001262409] Chr12:115975541 [GRCh38]
Chr12:116413346 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001843577]|Inborn genetic diseases [RCV001267016] Chr12:115983496 [GRCh38]
Chr12:116421301 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4114+2T>A single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001262940] Chr12:115987107 [GRCh38]
Chr12:116424912 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.627dup (p.Leu210fs) duplication not provided [RCV001268909] Chr12:116019970..116019971 [GRCh38]
Chr12:116457775..116457776 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.82dup (p.Thr28fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003314683]|not provided [RCV001268910] Chr12:116237695..116237696 [GRCh38]
Chr12:116675500..116675501 [GRCh37]
Chr12:12q24.21		 pathogenic|likely pathogenic
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs) duplication not provided [RCV001268341] Chr12:116008560..116008561 [GRCh38]
Chr12:116446365..116446366 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001332060] Chr12:116019263 [GRCh38]
Chr12:116457068 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265480]|not provided [RCV001751531] Chr12:116005975 [GRCh38]
Chr12:116443780 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001871694]|not provided [RCV001813134] Chr12:115986343 [GRCh38]
Chr12:116424148 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265255]|Inborn genetic diseases [RCV001266444]|not provided [RCV001575300] Chr12:115972162..115972172 [GRCh38]
Chr12:116409967..116409977 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001908114] Chr12:116009023 [GRCh38]
Chr12:116446828 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) microsatellite Inborn genetic diseases [RCV001266928] Chr12:115983150..115983151 [GRCh38]
Chr12:116420955..116420956 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5365-1G>A single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003985490]|Inborn genetic diseases [RCV001267335] Chr12:115975739 [GRCh38]
Chr12:116413544 [GRCh37]
Chr12:12q24.21		 pathogenic|not provided
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1 copy number loss Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001265125] Chr12:116528514..116605811 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) single nucleotide variant Inborn genetic diseases [RCV001266282]|Intellectual disability [RCV001257599] Chr12:115997195 [GRCh38]
Chr12:116435000 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs) deletion Intellectual disability [RCV001257652] Chr12:116006307..116006310 [GRCh38]
Chr12:116444112..116444115 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1009+5G>C single nucleotide variant Intellectual disability [RCV001257648] Chr12:116019219 [GRCh38]
Chr12:116457024 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) single nucleotide variant Intellectual disability [RCV001257650]|not provided [RCV001732096] Chr12:116096706 [GRCh38]
Chr12:116534511 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001807886] Chr12:116012858..116012859 [GRCh38]
Chr12:116450663..116450664 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2318del (p.Ser773fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001290361] Chr12:116006332 [GRCh38]
Chr12:116444137 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001336284] Chr12:115975243 [GRCh38]
Chr12:116413048 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001305194] Chr12:116008990 [GRCh38]
Chr12:116446795 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132400]|Transposition of the great arteries, dextro-looped [RCV001314528] Chr12:115966122 [GRCh38]
Chr12:116403927 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) indel Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001336282] Chr12:115986328..115986333 [GRCh38]
Chr12:116424133..116424138 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His) single nucleotide variant not provided [RCV001311831] Chr12:115991545 [GRCh38]
Chr12:116429350 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001299976]|not provided [RCV003883603] Chr12:116005988 [GRCh38]
Chr12:116443793 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132385]|Transposition of the great arteries, dextro-looped [RCV001300108]|not provided [RCV003393960] Chr12:116012892 [GRCh38]
Chr12:116450697 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001339267] Chr12:115984240 [GRCh38]
Chr12:116422045 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) single nucleotide variant Inborn genetic diseases [RCV002550155]|Transposition of the great arteries, dextro-looped [RCV001372388] Chr12:115975632 [GRCh38]
Chr12:116413437 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
GRCh37/hg19 12q24.21(chr12:116484240-116564043) copy number loss Global developmental delay [RCV001352669] Chr12:116484240..116564043 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.993A>G (p.Pro331=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603091]|not provided [RCV001356289] Chr12:116019240 [GRCh38]
Chr12:116457045 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001332058] Chr12:116008757 [GRCh38]
Chr12:116446562 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) single nucleotide variant Neurodevelopmental disorder [RCV001374929]|Transposition of the great arteries, dextro-looped [RCV003603092] Chr12:116007578 [GRCh38]
Chr12:116445383 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4338+5G>A single nucleotide variant not provided [RCV001813151] Chr12:115986261 [GRCh38]
Chr12:116424066 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001346760] Chr12:116005870 [GRCh38]
Chr12:116443675 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001344113] Chr12:116007532 [GRCh38]
Chr12:116445337 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003130488]|Transposition of the great arteries, dextro-looped [RCV001347935] Chr12:116007630 [GRCh38]
Chr12:116445435 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001336281]|Transposition of the great arteries, dextro-looped [RCV002546773] Chr12:116006410 [GRCh38]
Chr12:116444215 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) insertion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001336283] Chr12:115982583..115982584 [GRCh38]
Chr12:116420388..116420389 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr) single nucleotide variant See cases [RCV001420300] Chr12:115961316 [GRCh38]
Chr12:116399121 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) single nucleotide variant MED13L-related condition [RCV003908513]|Transposition of the great arteries, dextro-looped [RCV001308327] Chr12:115996660 [GRCh38]
Chr12:116434465 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001475873] Chr12:115975727 [GRCh38]
Chr12:116413532 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-7C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001490859]|not provided [RCV001595077] Chr12:116007643 [GRCh38]
Chr12:116445448 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001483241] Chr12:115991220 [GRCh38]
Chr12:116429025 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001454679] Chr12:115980801 [GRCh38]
Chr12:116418606 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001517225]|not provided [RCV001664951] Chr12:115966115 [GRCh38]
Chr12:116403920 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001517226]|not provided [RCV001638110] Chr12:115970733 [GRCh38]
Chr12:116408538 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) duplication Transposition of the great arteries, dextro-looped [RCV003497922]|not provided [RCV001538676] Chr12:115997094..115997095 [GRCh38]
Chr12:116434899..116434900 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001481258] Chr12:115991228 [GRCh38]
Chr12:116429033 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-9G>T single nucleotide variant not provided [RCV001536658]|not specified [RCV001699813] Chr12:116007645 [GRCh38]
Chr12:116445450 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5175+21T>A single nucleotide variant not provided [RCV001536901] Chr12:115982363 [GRCh38]
Chr12:116420168 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002573313]|not provided [RCV001581898] Chr12:115991886 [GRCh38]
Chr12:116429691 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe) single nucleotide variant Inborn genetic diseases [RCV003284318]|Transposition of the great arteries, dextro-looped [RCV001426108] Chr12:116008648 [GRCh38]
Chr12:116446453 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002250980] Chr12:115991574 [GRCh38]
Chr12:116429379 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001427665] Chr12:116007613 [GRCh38]
Chr12:116445418 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001409890] Chr12:115983233 [GRCh38]
Chr12:116421038 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) single nucleotide variant MED13L-related condition [RCV003938799]|Transposition of the great arteries, dextro-looped [RCV001449112]|not provided [RCV001685357] Chr12:116008849 [GRCh38]
Chr12:116446654 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4269G>T (p.Val1423=) single nucleotide variant MED13L-related condition [RCV003938787]|Transposition of the great arteries, dextro-looped [RCV001444346] Chr12:115986335 [GRCh38]
Chr12:116424140 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2292G>A (p.Pro764=) single nucleotide variant MED13L-related condition [RCV003946138]|Transposition of the great arteries, dextro-looped [RCV001436219]|not provided [RCV001581130] Chr12:116006358 [GRCh38]
Chr12:116444163 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001420523]|Transposition of the great arteries, dextro-looped [RCV003497921] Chr12:116007574 [GRCh38]
Chr12:116445379 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001420553] Chr12:115986304 [GRCh38]
Chr12:116424109 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2013-10_2013-9insTG insertion Transposition of the great arteries, dextro-looped [RCV001440261] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001408454] Chr12:115966151 [GRCh38]
Chr12:116403956 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2911C>T (p.Leu971=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001482048] Chr12:115996561 [GRCh38]
Chr12:116434366 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs) duplication not provided [RCV001682668] Chr12:116015172..116015173 [GRCh38]
Chr12:116452977..116452978 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2013-2A>T single nucleotide variant not provided [RCV001679568] Chr12:116007638 [GRCh38]
Chr12:116445443 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5890+77G>A single nucleotide variant not provided [RCV001592596] Chr12:115972001 [GRCh38]
Chr12:116409806 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.626-27A>C single nucleotide variant not provided [RCV001674820] Chr12:116019999 [GRCh38]
Chr12:116457804 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-29_2013-22dup duplication not provided [RCV001588417] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-45T>C single nucleotide variant not provided [RCV001681931] Chr12:116007681 [GRCh38]
Chr12:116445486 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001503097] Chr12:115975544 [GRCh38]
Chr12:116413349 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.564A>G (p.Pro188=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001497070] Chr12:116022517 [GRCh38]
Chr12:116460322 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.310+221A>C single nucleotide variant not provided [RCV001651960] Chr12:116237247 [GRCh38]
Chr12:116675052 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001517227]|not provided [RCV001664952] Chr12:115991884 [GRCh38]
Chr12:116429689 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001517910] Chr12:115991525 [GRCh38]
Chr12:116429330 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-29_2013-21dup duplication not provided [RCV001592217] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.360G>A (p.Thr120=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001467697] Chr12:116111463 [GRCh38]
Chr12:116549268 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2239-7T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001516278]|not provided [RCV001655759] Chr12:116006418 [GRCh38]
Chr12:116444223 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001487494] Chr12:115982444 [GRCh38]
Chr12:116420249 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001457764]|not provided [RCV002265030] Chr12:116008689 [GRCh38]
Chr12:116446494 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001500475] Chr12:115961359 [GRCh38]
Chr12:116399164 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001517228]|not provided [RCV001720292] Chr12:116008640 [GRCh38]
Chr12:116446445 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile) single nucleotide variant Inborn genetic diseases [RCV003298691]|MED13L-related condition [RCV003963319]|Transposition of the great arteries, dextro-looped [RCV001415674] Chr12:115975540 [GRCh38]
Chr12:116413345 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001459443] Chr12:115975595 [GRCh38]
Chr12:116413400 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) duplication Transposition of the great arteries, dextro-looped [RCV001383794] Chr12:116009007..116009008 [GRCh38]
Chr12:116446812..116446813 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001375954] Chr12:115991921 [GRCh38]
Chr12:116429726 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.73-10_73-9dup duplication MED13L-related condition [RCV003966071]|Transposition of the great arteries, dextro-looped [RCV001512115]|not provided [RCV001569913] Chr12:116237713..116237714 [GRCh38]
Chr12:116675518..116675519 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile) single nucleotide variant not provided [RCV001756388] Chr12:116008812 [GRCh38]
Chr12:116446617 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5350C>T (p.Leu1784Phe) single nucleotide variant See cases [RCV002254878] Chr12:115980764 [GRCh38]
Chr12:116418569 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4086C>T (p.Phe1362=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003128171] Chr12:115987137 [GRCh38]
Chr12:116424942 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002226834] Chr12:115991645 [GRCh38]
Chr12:116429450 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002539798]|not provided [RCV001730461] Chr12:116008759 [GRCh38]
Chr12:116446564 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002272735] Chr12:115983283 [GRCh38]
Chr12:116421088 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5953C>G (p.Leu1985Val) single nucleotide variant not provided [RCV002273427] Chr12:115970708 [GRCh38]
Chr12:116408513 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002273084] Chr12:115997165 [GRCh38]
Chr12:116434970 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002273192] Chr12:115991749 [GRCh38]
Chr12:116429554 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter) single nucleotide variant Neurodevelopmental disorder [RCV001780074] Chr12:115996522 [GRCh38]
Chr12:116434327 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe) single nucleotide variant not provided [RCV002272094] Chr12:115996528 [GRCh38]
Chr12:116434333 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp) single nucleotide variant not specified [RCV002238640] Chr12:116009025 [GRCh38]
Chr12:116446830 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) single nucleotide variant MED13L-Related Disorder [RCV001825017]|not provided [RCV001732891] Chr12:116008729 [GRCh38]
Chr12:116446534 [GRCh37]
Chr12:12q24.21		 pathogenic|not provided
NM_015335.5(MED13L):c.404T>C (p.Met135Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002273166] Chr12:116096744 [GRCh38]
Chr12:116534549 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) single nucleotide variant not provided [RCV002272574]|not specified [RCV002249367] Chr12:115991041 [GRCh38]
Chr12:116428846 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.1280+44C>T single nucleotide variant not provided [RCV001754061] Chr12:116012753 [GRCh38]
Chr12:116450558 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497935]|not provided [RCV001758515] Chr12:116008554 [GRCh38]
Chr12:116446359 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001779384] Chr12:115970683 [GRCh38]
Chr12:116408488 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile) indel not provided [RCV001767022] Chr12:115975643..115975644 [GRCh38]
Chr12:116413448..116413449 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2145A>G (p.Pro715=) single nucleotide variant not provided [RCV001754056] Chr12:116007504 [GRCh38]
Chr12:116445309 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2189A>G (p.Asn730Ser) single nucleotide variant not provided [RCV003238013] Chr12:116007460 [GRCh38]
Chr12:116445265 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr) single nucleotide variant not provided [RCV001767260] Chr12:115982475 [GRCh38]
Chr12:116420280 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4033A>G (p.Arg1345Gly) single nucleotide variant not provided [RCV001770784] Chr12:115987190 [GRCh38]
Chr12:116424995 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.697C>T (p.Arg233Cys) single nucleotide variant not provided [RCV001763564] Chr12:116019901 [GRCh38]
Chr12:116457706 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2470-13C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002544305]|not provided [RCV001786946] Chr12:116003115 [GRCh38]
Chr12:116440920 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4877C>T (p.Thr1626Met) single nucleotide variant not provided [RCV001752352] Chr12:115983195 [GRCh38]
Chr12:116421000 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser) single nucleotide variant not provided [RCV001771321] Chr12:115996552 [GRCh38]
Chr12:116434357 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly) single nucleotide variant not provided [RCV001763481] Chr12:116237509 [GRCh38]
Chr12:116675314 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001771828] Chr12:115968969..115968970 [GRCh38]
Chr12:116406774..116406775 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001801318] Chr12:115986391 [GRCh38]
Chr12:116424196 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003147650]|not provided [RCV001774474] Chr12:115986414 [GRCh38]
Chr12:116424219 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.88A>G (p.Ile30Val) single nucleotide variant not provided [RCV001773052] Chr12:116237690 [GRCh38]
Chr12:116675495 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2239-11T>G single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001775236] Chr12:116006422 [GRCh38]
Chr12:116444227 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001775258] Chr12:115980865..115980866 [GRCh38]
Chr12:116418670..116418671 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp) single nucleotide variant not provided [RCV001767806] Chr12:115991686 [GRCh38]
Chr12:116429491 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4532-49G>A single nucleotide variant not provided [RCV001762874] Chr12:115983589 [GRCh38]
Chr12:116421394 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3134G>A (p.Arg1045His) single nucleotide variant not provided [RCV001752135] Chr12:115991820 [GRCh38]
Chr12:116429625 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile) single nucleotide variant not provided [RCV001757098] Chr12:116012816 [GRCh38]
Chr12:116450621 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu) single nucleotide variant not provided [RCV001752501] Chr12:116008965 [GRCh38]
Chr12:116446770 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2704A>G (p.Met902Val) single nucleotide variant not provided [RCV001752521] Chr12:115997096 [GRCh38]
Chr12:116434901 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5315C>T (p.Thr1772Met) single nucleotide variant not provided [RCV001765389] Chr12:115980799 [GRCh38]
Chr12:116418604 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1176-26A>G single nucleotide variant not provided [RCV001765969] Chr12:116012927 [GRCh38]
Chr12:116450732 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5288C>A (p.Pro1763His) single nucleotide variant not provided [RCV001768999] Chr12:115980826 [GRCh38]
Chr12:116418631 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His) single nucleotide variant not provided [RCV001760532] Chr12:115975593 [GRCh38]
Chr12:116413398 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5951A>G (p.Gln1984Arg) single nucleotide variant not provided [RCV001760653] Chr12:115970710 [GRCh38]
Chr12:116408515 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp) single nucleotide variant Inborn genetic diseases [RCV003199160] Chr12:115983288 [GRCh38]
Chr12:116421093 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2470-5C>G single nucleotide variant not provided [RCV001770673] Chr12:116003107 [GRCh38]
Chr12:116440912 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg) single nucleotide variant not provided [RCV001786666] Chr12:115966241 [GRCh38]
Chr12:116404046 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.249A>G (p.Leu83=) single nucleotide variant not provided [RCV001794667] Chr12:116237529 [GRCh38]
Chr12:116675334 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) indel Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001788492] Chr12:116022525..116022540 [GRCh38]
Chr12:116460330..116460345 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met) single nucleotide variant not provided [RCV001756792] Chr12:115961360 [GRCh38]
Chr12:116399165 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2320del (p.Ile774fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001788493] Chr12:116006330 [GRCh38]
Chr12:116444135 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5365-22T>C single nucleotide variant not provided [RCV001753989] Chr12:115975760 [GRCh38]
Chr12:116413565 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser) single nucleotide variant not provided [RCV001797338] Chr12:116012882 [GRCh38]
Chr12:116450687 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser) single nucleotide variant not provided [RCV001797375] Chr12:115966159 [GRCh38]
Chr12:116403964 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg) single nucleotide variant not provided [RCV001763638] Chr12:115987285 [GRCh38]
Chr12:116425090 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) single nucleotide variant not provided [RCV001757886]|not specified [RCV003120660] Chr12:115991799 [GRCh38]
Chr12:116429604 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001809200] Chr12:115984358 [GRCh38]
Chr12:116422163 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002074240]|not provided [RCV001816125] Chr12:115983213 [GRCh38]
Chr12:116421018 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001809199] Chr12:115987199 [GRCh38]
Chr12:116425004 [GRCh37]
Chr12:12q24.21		 likely pathogenic|conflicting interpretations of pathogenicity
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001823433] Chr12:116007535 [GRCh38]
Chr12:116445340 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2997-2A>G single nucleotide variant not provided [RCV001837131] Chr12:115991959 [GRCh38]
Chr12:116429764 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4748C>G (p.Ser1583Cys) single nucleotide variant not provided [RCV001823405] Chr12:115983324 [GRCh38]
Chr12:116421129 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001823623] Chr12:115970757 [GRCh38]
Chr12:116408562 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002045118] Chr12:115966224 [GRCh38]
Chr12:116404029 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001950415] Chr12:116237654 [GRCh38]
Chr12:116675459 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21(chr12:116523800-116581474) copy number loss not specified [RCV002053024] Chr12:116523800..116581474 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001875000] Chr12:116009104 [GRCh38]
Chr12:116446909 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21(chr12:116463228-116535323) copy number loss not specified [RCV002053022] Chr12:116463228..116535323 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) single nucleotide variant Inborn genetic diseases [RCV003355773]|Transposition of the great arteries, dextro-looped [RCV002020629] Chr12:116012854 [GRCh38]
Chr12:116450659 [GRCh37]
Chr12:12q24.21		 benign|likely benign|uncertain significance
NM_015335.5(MED13L):c.593A>C (p.His198Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001983739] Chr12:116022488 [GRCh38]
Chr12:116460293 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
GRCh37/hg19 12q24.21(chr12:116374312-116535323) copy number gain not specified [RCV002053021] Chr12:116374312..116535323 [GRCh37]
Chr12:12q24.21		 likely pathogenic
GRCh37/hg19 12q24.21(chr12:116456529-116488520)x1 copy number loss not provided [RCV001832986] Chr12:116456529..116488520 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu) single nucleotide variant not provided [RCV001837688] Chr12:115986306 [GRCh38]
Chr12:116424111 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001839195] Chr12:116008804 [GRCh38]
Chr12:116446609 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001839316] Chr12:115980820 [GRCh38]
Chr12:116418625 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21(chr12:115882666-116463228)x3 copy number gain not provided [RCV001834540] Chr12:115882666..116463228 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001987081] Chr12:115984203 [GRCh38]
Chr12:116422008 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001837181]|Inborn genetic diseases [RCV003375367] Chr12:115970675 [GRCh38]
Chr12:116408480 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV001837224] Chr12:115983327 [GRCh38]
Chr12:116421132 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002006305] Chr12:116008888 [GRCh38]
Chr12:116446693 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001984811] Chr12:116008629 [GRCh38]
Chr12:116446434 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002036717] Chr12:115987221 [GRCh38]
Chr12:116425026 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001898115] Chr12:116096675 [GRCh38]
Chr12:116534480 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001917152] Chr12:115980815 [GRCh38]
Chr12:116418620 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV001899129] Chr12:115991599 [GRCh38]
Chr12:116429404 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.479+8T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002146611] Chr12:116096661 [GRCh38]
Chr12:116534466 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2196A>G (p.Lys732=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002105942] Chr12:116007453 [GRCh38]
Chr12:116445258 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5181G>C (p.Val1727=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002075013] Chr12:115980933 [GRCh38]
Chr12:116418738 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002148517] Chr12:115970624 [GRCh38]
Chr12:116408429 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1164A>G (p.Arg388=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002127862] Chr12:116015120 [GRCh38]
Chr12:116452925 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1009+12C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002190128] Chr12:116019212 [GRCh38]
Chr12:116457017 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3187G>T (p.Gly1063Trp) single nucleotide variant not provided [RCV002223373] Chr12:115991767 [GRCh38]
Chr12:116429572 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5365-13G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002127525] Chr12:115975751 [GRCh38]
Chr12:116413556 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.879G>A (p.Pro293=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002129523]|not provided [RCV003395395] Chr12:116019354 [GRCh38]
Chr12:116457159 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002086963] Chr12:115982399 [GRCh38]
Chr12:116420204 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002109365]|not provided [RCV003395390] Chr12:116007438 [GRCh38]
Chr12:116445243 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6501-9C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002187490] Chr12:115961407 [GRCh38]
Chr12:116399212 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002192137] Chr12:115980831 [GRCh38]
Chr12:116418636 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter) single nucleotide variant not provided [RCV002226176] Chr12:116009095 [GRCh38]
Chr12:116446900 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002266112]|not provided [RCV002223602] Chr12:115983454 [GRCh38]
Chr12:116421259 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.861C>A (p.Ile287=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002107477] Chr12:116019372 [GRCh38]
Chr12:116457177 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.672A>T (p.Ala224=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002078327] Chr12:116019926 [GRCh38]
Chr12:116457731 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2570-11C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002188247] Chr12:115997241 [GRCh38]
Chr12:116435046 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.479+47G>A single nucleotide variant not provided [RCV002211006] Chr12:116096622 [GRCh38]
Chr12:116534427 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2352G>A (p.Arg784=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002094565] Chr12:116005986 [GRCh38]
Chr12:116443791 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2913G>T (p.Leu971=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002190629] Chr12:115996559 [GRCh38]
Chr12:116434364 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002210706] Chr12:116007614 [GRCh38]
Chr12:116445419 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6388-7dup duplication Transposition of the great arteries, dextro-looped [RCV002132372] Chr12:115963525..115963526 [GRCh38]
Chr12:116401330..116401331 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5176-17dup duplication Transposition of the great arteries, dextro-looped [RCV002115931] Chr12:115980954..115980955 [GRCh38]
Chr12:116418759..116418760 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.479+18T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002174553] Chr12:116096651 [GRCh38]
Chr12:116534456 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3935-12C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002139268] Chr12:115987300 [GRCh38]
Chr12:116425105 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002139329] Chr12:115980853 [GRCh38]
Chr12:116418658 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002142190] Chr12:115980830 [GRCh38]
Chr12:116418635 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002135479] Chr12:115986446 [GRCh38]
Chr12:116424251 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002216730] Chr12:116008444 [GRCh38]
Chr12:116446249 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5890+11T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002118035] Chr12:115972067 [GRCh38]
Chr12:116409872 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1086A>G (p.Pro362=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002176152] Chr12:116015198 [GRCh38]
Chr12:116453003 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002098723] Chr12:115991954 [GRCh38]
Chr12:116429759 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.747G>T (p.Lys249Asn) single nucleotide variant not provided [RCV002221896]   uncertain significance
NM_015335.5(MED13L):c.5985C>T (p.His1995=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002202745] Chr12:115970676 [GRCh38]
Chr12:116408481 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.36G>A (p.Ala12=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003112446]|not provided [RCV003326660] Chr12:116277096 [GRCh38]
Chr12:116714901 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2109A>G (p.Gln703=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003112604] Chr12:116007540 [GRCh38]
Chr12:116445345 [GRCh37]
Chr12:12q24.21		 likely benign
NC_000012.11:g.(?_116418535)_(116420428_?)del deletion Transposition of the great arteries, dextro-looped [RCV003119576] Chr12:116418535..116420428 [GRCh37]
Chr12:12q24.21		 pathogenic
NC_000012.11:g.(?_116534454)_(116549337_?)del deletion Transposition of the great arteries, dextro-looped [RCV003119577] Chr12:116534454..116549337 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.6426dup (p.Glu2143fs) duplication not provided [RCV003325354] Chr12:115963480..115963481 [GRCh38]
Chr12:116401285..116401286 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp) single nucleotide variant not provided [RCV003152177] Chr12:115961390 [GRCh38]
Chr12:116399195 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2539G>A (p.Asp847Asn) single nucleotide variant not provided [RCV003156548] Chr12:116003033 [GRCh38]
Chr12:116440838 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003148047]|Inborn genetic diseases [RCV003294651] Chr12:115991430 [GRCh38]
Chr12:116429235 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.889_890del (p.Ser297fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003153035] Chr12:116019343..116019344 [GRCh38]
Chr12:116457148..116457149 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002250110] Chr12:115987182 [GRCh38]
Chr12:116424987 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002273327]|Transposition of the great arteries, dextro-looped [RCV003497948] Chr12:115991136 [GRCh38]
Chr12:116428941 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) single nucleotide variant not provided [RCV002259534] Chr12:115986345 [GRCh38]
Chr12:116424150 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5364+1dup duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002273066] Chr12:115980748..115980749 [GRCh38]
Chr12:116418553..116418554 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131574] Chr12:116015242 [GRCh38]
Chr12:116453047 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val) single nucleotide variant not provided [RCV003149448] Chr12:115997219 [GRCh38]
Chr12:116435024 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) single nucleotide variant See cases [RCV002253158]|Transposition of the great arteries, dextro-looped [RCV003603113] Chr12:115986339 [GRCh38]
Chr12:116424144 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV003129108] Chr12:116019262 [GRCh38]
Chr12:116457067 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1094C>T (p.Ser365Leu) single nucleotide variant Inborn genetic diseases [RCV003255433] Chr12:116015190 [GRCh38]
Chr12:116452995 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser) single nucleotide variant not provided [RCV003234423] Chr12:115991034 [GRCh38]
Chr12:116428839 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.896C>G (p.Ala299Gly) single nucleotide variant not provided [RCV003234427] Chr12:116019337 [GRCh38]
Chr12:116457142 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu) single nucleotide variant See cases [RCV003232944] Chr12:115980881 [GRCh38]
Chr12:116418686 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.-9dup duplication not specified [RCV002266481] Chr12:116277139..116277140 [GRCh38]
Chr12:116714944..116714945 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2815C>G (p.Pro939Ala) single nucleotide variant not provided [RCV002273638] Chr12:115996657 [GRCh38]
Chr12:116434462 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2570-1G>T single nucleotide variant Neurodevelopmental disorder [RCV002277682] Chr12:115997231 [GRCh38]
Chr12:116435036 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002274459] Chr12:116111494 [GRCh38]
Chr12:116549299 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003120884]|not provided [RCV002291391] Chr12:115991296 [GRCh38]
Chr12:116429101 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.319dup (p.Glu107fs) duplication Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002276497] Chr12:116111503..116111504 [GRCh38]
Chr12:116549308..116549309 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg) single nucleotide variant not provided [RCV002265371] Chr12:115975641 [GRCh38]
Chr12:116413446 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn) single nucleotide variant not provided [RCV002269489] Chr12:115983117 [GRCh38]
Chr12:116420922 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1717C>A (p.Pro573Thr) single nucleotide variant not provided [RCV002273524] Chr12:116008696 [GRCh38]
Chr12:116446501 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs) microsatellite Neurodevelopmental disorder [RCV002277659] Chr12:115991193..115991194 [GRCh38]
Chr12:116428998..116428999 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5327C>T (p.Pro1776Leu) single nucleotide variant not provided [RCV002262398] Chr12:115980787 [GRCh38]
Chr12:116418592 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003774944]|not provided [RCV002286259] Chr12:116019813 [GRCh38]
Chr12:116457618 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.799G>A (p.Val267Met) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002288245] Chr12:116019799 [GRCh38]
Chr12:116457604 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs) microsatellite Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002288265] Chr12:115991324..115991327 [GRCh38]
Chr12:116429129..116429132 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002288999] Chr12:115991920 [GRCh38]
Chr12:116429725 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.769G>A (p.Asp257Asn) single nucleotide variant not provided [RCV003237228] Chr12:116019829 [GRCh38]
Chr12:116457634 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro) single nucleotide variant not provided [RCV002290942] Chr12:115975287 [GRCh38]
Chr12:116413092 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu) single nucleotide variant not provided [RCV002292100] Chr12:115963515 [GRCh38]
Chr12:116401320 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603154]|not provided [RCV003230217] Chr12:115984369 [GRCh38]
Chr12:116422174 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val) single nucleotide variant not provided [RCV002293802] Chr12:115991121 [GRCh38]
Chr12:116428926 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2281C>A (p.His761Asn) single nucleotide variant not provided [RCV002293785] Chr12:116006369 [GRCh38]
Chr12:116444174 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002274458] Chr12:115970720 [GRCh38]
Chr12:116408525 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp) single nucleotide variant not provided [RCV002469620] Chr12:115975183 [GRCh38]
Chr12:116412988 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003147951] Chr12:115986468 [GRCh38]
Chr12:116424273 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg) single nucleotide variant not provided [RCV003156668] Chr12:115980880 [GRCh38]
Chr12:116418685 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21-24.22(chr12:116693045-117089243)x3 copy number gain not provided [RCV002473826] Chr12:116693045..117089243 [GRCh37]
Chr12:12q24.21-24.22		 uncertain significance
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp) single nucleotide variant not provided [RCV003129001] Chr12:115975633 [GRCh38]
Chr12:116413438 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu) single nucleotide variant not provided [RCV002473992] Chr12:116015115 [GRCh38]
Chr12:116452920 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal) insertion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002472253] Chr12:116019351..116019352 [GRCh38]
Chr12:116457156..116457157 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002569363]|not provided [RCV002469671] Chr12:115969026 [GRCh38]
Chr12:116406831 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr) single nucleotide variant not provided [RCV002473980] Chr12:116008446 [GRCh38]
Chr12:116446251 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6039del (p.Asn2014fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002472260] Chr12:115970622 [GRCh38]
Chr12:116408427 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471722] Chr12:115983530..115983533 [GRCh38]
Chr12:116421335..116421338 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4532-13T>G single nucleotide variant not provided [RCV002469603] Chr12:115983553 [GRCh38]
Chr12:116421358 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.787G>A (p.Asp263Asn) single nucleotide variant See cases [RCV003128533] Chr12:116019811 [GRCh38]
Chr12:116457616 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471712] Chr12:115970626..115970644 [GRCh38]
Chr12:116408431..116408449 [GRCh37]
Chr12:12q24.21		 pathogenic
GRCh37/hg19 12q24.21-24.22(chr12:116422123-117740952)x3 copy number gain not provided [RCV002473622] Chr12:116422123..117740952 [GRCh37]
Chr12:12q24.21-24.22		 uncertain significance
NM_015335.5(MED13L):c.278del (p.Asn93fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002471753] Chr12:116237500 [GRCh38]
Chr12:116675305 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002681242] Chr12:116237671 [GRCh38]
Chr12:116675476 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg) single nucleotide variant not provided [RCV003230052] Chr12:115966101 [GRCh38]
Chr12:116403906 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe) single nucleotide variant not provided [RCV003154364] Chr12:115987237 [GRCh38]
Chr12:116425042 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131575] Chr12:116019335 [GRCh38]
Chr12:116457140 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131576] Chr12:116015274 [GRCh38]
Chr12:116453079 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003098034]|not provided [RCV002306002] Chr12:116007466 [GRCh38]
Chr12:116445271 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5471del (p.Asn1824fs) deletion not provided [RCV002306153] Chr12:115975632 [GRCh38]
Chr12:116413437 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002299699] Chr12:115983433 [GRCh38]
Chr12:116421238 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu) single nucleotide variant not provided [RCV002300759] Chr12:115961307 [GRCh38]
Chr12:116399112 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV002302430] Chr12:115987199..115987212 [GRCh38]
Chr12:116425004..116425017 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497952]|not provided [RCV002301027] Chr12:115972170 [GRCh38]
Chr12:116409975 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3173G>A (p.Arg1058Lys) single nucleotide variant not provided [RCV002301014] Chr12:115991781 [GRCh38]
Chr12:116429586 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002303673] Chr12:115980832 [GRCh38]
Chr12:116418637 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5943G>C (p.Gln1981His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002304479] Chr12:115970718 [GRCh38]
Chr12:116408523 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002615831] Chr12:115980806 [GRCh38]
Chr12:116418611 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del) deletion MED13L-related condition [RCV003395584]|Transposition of the great arteries, dextro-looped [RCV003074785] Chr12:116009111..116009113 [GRCh38]
Chr12:116446916..116446918 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002615044] Chr12:116008633 [GRCh38]
Chr12:116446438 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.479+16G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002681929] Chr12:116096653 [GRCh38]
Chr12:116534458 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002858302] Chr12:115983373 [GRCh38]
Chr12:116421178 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr) single nucleotide variant Inborn genetic diseases [RCV003365737]|Transposition of the great arteries, dextro-looped [RCV002569417]|not provided [RCV002508658] Chr12:115975299 [GRCh38]
Chr12:116413104 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=) single nucleotide variant MED13L-related condition [RCV003936499]|Transposition of the great arteries, dextro-looped [RCV002995811] Chr12:115983449 [GRCh38]
Chr12:116421254 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly) single nucleotide variant Inborn genetic diseases [RCV002901163] Chr12:115983199 [GRCh38]
Chr12:116421004 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.511C>T (p.Leu171=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003012213] Chr12:116022570 [GRCh38]
Chr12:116460375 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2288C>T (p.Thr763Met) single nucleotide variant not provided [RCV002511743] Chr12:116006362 [GRCh38]
Chr12:116444167 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002858221] Chr12:115969057 [GRCh38]
Chr12:116406862 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.311-21_311-16del deletion Transposition of the great arteries, dextro-looped [RCV002975133] Chr12:116111528..116111533 [GRCh38]
Chr12:116549333..116549338 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002975562] Chr12:115991432 [GRCh38]
Chr12:116429237 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497961]|not provided [RCV002462444] Chr12:115996648 [GRCh38]
Chr12:116434453 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.311-20T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003074396] Chr12:116111532 [GRCh38]
Chr12:116549337 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs) microsatellite Inborn genetic diseases [RCV002840874] Chr12:115991358..115991359 [GRCh38]
Chr12:116429163..116429164 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1722A>G (p.Pro574=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003074509] Chr12:116008691 [GRCh38]
Chr12:116446496 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.147C>A (p.Ala49=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002795048] Chr12:116237631 [GRCh38]
Chr12:116675436 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu) single nucleotide variant Inborn genetic diseases [RCV002905927] Chr12:115997126 [GRCh38]
Chr12:116434931 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4114+17G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003034741] Chr12:115987092 [GRCh38]
Chr12:116424897 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002866136] Chr12:115963472 [GRCh38]
Chr12:116401277 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002756329] Chr12:116006330 [GRCh38]
Chr12:116444135 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1689A>T (p.Pro563=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003075297] Chr12:116008724 [GRCh38]
Chr12:116446529 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003319545]|Inborn genetic diseases [RCV002865029] Chr12:115982554 [GRCh38]
Chr12:116420359 [GRCh37]
Chr12:12q24.21		 pathogenic|uncertain significance
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002903985] Chr12:115991936 [GRCh38]
Chr12:116429741 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002616617] Chr12:115975601 [GRCh38]
Chr12:116413406 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.732G>C (p.Pro244=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002858672] Chr12:116019866 [GRCh38]
Chr12:116457671 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002970616] Chr12:115991307 [GRCh38]
Chr12:116429112 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly) single nucleotide variant Inborn genetic diseases [RCV002752591] Chr12:115972195 [GRCh38]
Chr12:116410000 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002857847] Chr12:115991272 [GRCh38]
Chr12:116429077 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002726379] Chr12:115991890 [GRCh38]
Chr12:116429695 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002947374] Chr12:115991696 [GRCh38]
Chr12:116429501 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.53A>T (p.His18Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002574743]|not provided [RCV002511198] Chr12:116277079 [GRCh38]
Chr12:116714884 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.192G>C (p.Leu64=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003075710] Chr12:116237586 [GRCh38]
Chr12:116675391 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2097G>A (p.Leu699=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003076282] Chr12:116007552 [GRCh38]
Chr12:116445357 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002908507] Chr12:116237548 [GRCh38]
Chr12:116675353 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002995850] Chr12:116019957 [GRCh38]
Chr12:116457762 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.3927C>T (p.His1309=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002681499] Chr12:115991027 [GRCh38]
Chr12:116428832 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003103108]|not provided [RCV002461685] Chr12:115975572 [GRCh38]
Chr12:116413377 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003076307] Chr12:115984306 [GRCh38]
Chr12:116422111 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3935-9C>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002622474] Chr12:115987297 [GRCh38]
Chr12:116425102 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2925A>G (p.Ser975=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002696308] Chr12:115996547 [GRCh38]
Chr12:116434352 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002927942] Chr12:115975738 [GRCh38]
Chr12:116413543 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys) single nucleotide variant Inborn genetic diseases [RCV002708070] Chr12:115975614 [GRCh38]
Chr12:116413419 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser) single nucleotide variant Inborn genetic diseases [RCV002707814] Chr12:115991022 [GRCh38]
Chr12:116428827 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.625+16C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002735757] Chr12:116022440 [GRCh38]
Chr12:116460245 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2282A>G (p.His761Arg) single nucleotide variant Inborn genetic diseases [RCV003061607]|Transposition of the great arteries, dextro-looped [RCV003079185] Chr12:116006368 [GRCh38]
Chr12:116444173 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002914379] Chr12:115983412 [GRCh38]
Chr12:116421217 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002735842] Chr12:115991248 [GRCh38]
Chr12:116429053 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu) single nucleotide variant Inborn genetic diseases [RCV002844250] Chr12:115983255 [GRCh38]
Chr12:116421060 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del) microsatellite Transposition of the great arteries, dextro-looped [RCV002637274]|not specified [RCV003331443] Chr12:116009018..116009020 [GRCh38]
Chr12:116446823..116446825 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002909850] Chr12:115991254 [GRCh38]
Chr12:116429059 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2886A>C (p.Leu962=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003017793] Chr12:115996586 [GRCh38]
Chr12:116434391 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002637817] Chr12:115996654 [GRCh38]
Chr12:116434459 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5891-12T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003019754] Chr12:115970782 [GRCh38]
Chr12:116408587 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002847384] Chr12:115986460 [GRCh38]
Chr12:116424265 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile) single nucleotide variant Inborn genetic diseases [RCV002887066] Chr12:116019383 [GRCh38]
Chr12:116457188 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.987C>G (p.Thr329=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002620156] Chr12:116019246 [GRCh38]
Chr12:116457051 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr) indel Transposition of the great arteries, dextro-looped [RCV002886033] Chr12:116022495..116022496 [GRCh38]
Chr12:116460300..116460301 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002909145] Chr12:115987198 [GRCh38]
Chr12:116425003 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6501-18G>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003053188] Chr12:115961416 [GRCh38]
Chr12:116399221 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002913080] Chr12:115982597 [GRCh38]
Chr12:116420402 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002927499] Chr12:115997152 [GRCh38]
Chr12:116434957 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002886375] Chr12:115996540 [GRCh38]
Chr12:116434345 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6068-17T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003080867] Chr12:115969114 [GRCh38]
Chr12:116406919 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu) single nucleotide variant Inborn genetic diseases [RCV003250566]|Transposition of the great arteries, dextro-looped [RCV002695569] Chr12:115991153 [GRCh38]
Chr12:116428958 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4670C>G (p.Pro1557Arg) single nucleotide variant Inborn genetic diseases [RCV002661521] Chr12:115983402 [GRCh38]
Chr12:116421207 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile) single nucleotide variant Inborn genetic diseases [RCV003167731]|Transposition of the great arteries, dextro-looped [RCV002785304] Chr12:116009007 [GRCh38]
Chr12:116446812 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002885907] Chr12:115969027 [GRCh38]
Chr12:116406832 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1728C>T (p.Val576=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002591595] Chr12:116008685 [GRCh38]
Chr12:116446490 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2469+11C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002885529] Chr12:116005858 [GRCh38]
Chr12:116443663 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002620930] Chr12:115961320 [GRCh38]
Chr12:116399125 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003021390] Chr12:115983186 [GRCh38]
Chr12:116420991 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003002627] Chr12:115987110 [GRCh38]
Chr12:116424915 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002820837] Chr12:116006339 [GRCh38]
Chr12:116444144 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002949615] Chr12:115983473 [GRCh38]
Chr12:116421278 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002847801] Chr12:115986398 [GRCh38]
Chr12:116424203 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2344+13A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003021127] Chr12:116006293 [GRCh38]
Chr12:116444098 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.480-9C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002636408] Chr12:116022610 [GRCh38]
Chr12:116460415 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met) single nucleotide variant not provided [RCV002508393] Chr12:115991059 [GRCh38]
Chr12:116428864 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys) single nucleotide variant Inborn genetic diseases [RCV002893786]|Transposition of the great arteries, dextro-looped [RCV003603143] Chr12:116008560 [GRCh38]
Chr12:116446365 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002626200] Chr12:115996663 [GRCh38]
Chr12:116434468 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer) deletion Inborn genetic diseases [RCV002743273] Chr12:115997038 [GRCh38]
Chr12:116434843 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003042531] Chr12:116008905 [GRCh38]
Chr12:116446710 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002623610]|not provided [RCV003395613] Chr12:115970759 [GRCh38]
Chr12:116408564 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002919001] Chr12:115984186 [GRCh38]
Chr12:116421991 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002596316] Chr12:115986274 [GRCh38]
Chr12:116424079 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs) deletion Transposition of the great arteries, dextro-looped [RCV003041982] Chr12:115972199..115972202 [GRCh38]
Chr12:116410004..116410007 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.698G>T (p.Arg233Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002575497] Chr12:116019900 [GRCh38]
Chr12:116457705 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002890413] Chr12:115991165 [GRCh38]
Chr12:116428970 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=) single nucleotide variant MED13L-related condition [RCV003903760]|Transposition of the great arteries, dextro-looped [RCV002745450]|not provided [RCV003395506] Chr12:115991747 [GRCh38]
Chr12:116429552 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002643872] Chr12:115961330 [GRCh38]
Chr12:116399135 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002932071] Chr12:116008930 [GRCh38]
Chr12:116446735 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2470-20A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002624949] Chr12:116003122 [GRCh38]
Chr12:116440927 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002985606] Chr12:115991723 [GRCh38]
Chr12:116429528 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002573827] Chr12:116012885 [GRCh38]
Chr12:116450690 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003006148] Chr12:115983119 [GRCh38]
Chr12:116420924 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.626-12T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002624396] Chr12:116019984 [GRCh38]
Chr12:116457789 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002931956] Chr12:115986285 [GRCh38]
Chr12:116424090 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2122A>G (p.Ser708Gly) single nucleotide variant Inborn genetic diseases [RCV002954536] Chr12:116007527 [GRCh38]
Chr12:116445332 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3381del (p.Phe1128fs) deletion Transposition of the great arteries, dextro-looped [RCV002890121] Chr12:115991573 [GRCh38]
Chr12:116429378 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys) single nucleotide variant Inborn genetic diseases [RCV002698061]|Transposition of the great arteries, dextro-looped [RCV003603145] Chr12:116007427 [GRCh38]
Chr12:116445232 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002666579] Chr12:116237501 [GRCh38]
Chr12:116675306 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6582C>T (p.Val2194=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002982179]|not provided [RCV003389912] Chr12:115961317 [GRCh38]
Chr12:116399122 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003082065] Chr12:115991664 [GRCh38]
Chr12:116429469 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002801937] Chr12:116022498 [GRCh38]
Chr12:116460303 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002800883] Chr12:115983286 [GRCh38]
Chr12:116421091 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5589-9A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002928756] Chr12:115975322 [GRCh38]
Chr12:116413127 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.395+8A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002851283] Chr12:116111420 [GRCh38]
Chr12:116549225 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1797T>C (p.Thr599=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002624470] Chr12:116008616 [GRCh38]
Chr12:116446421 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3523A>G (p.Asn1175Asp) single nucleotide variant Inborn genetic diseases [RCV002743421] Chr12:115991431 [GRCh38]
Chr12:116429236 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr) single nucleotide variant Inborn genetic diseases [RCV003084496]|Transposition of the great arteries, dextro-looped [RCV003090105] Chr12:115991376 [GRCh38]
Chr12:116429181 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.2569+16T>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002872504] Chr12:116002987 [GRCh38]
Chr12:116440792 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2868G>A (p.Leu956=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002594598] Chr12:115996604 [GRCh38]
Chr12:116434409 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.119A>G (p.His40Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003024057] Chr12:116237659 [GRCh38]
Chr12:116675464 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003082087]|not provided [RCV003395597] Chr12:115972151 [GRCh38]
Chr12:116409956 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002918252] Chr12:115991558 [GRCh38]
Chr12:116429363 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002801405] Chr12:115997087 [GRCh38]
Chr12:116434892 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002574432] Chr12:115982508 [GRCh38]
Chr12:116420313 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2790+12T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003084719] Chr12:115996998 [GRCh38]
Chr12:116434803 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1645C>A (p.His549Asn) single nucleotide variant Inborn genetic diseases [RCV002853539] Chr12:116008768 [GRCh38]
Chr12:116446573 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002918409] Chr12:116009085 [GRCh38]
Chr12:116446890 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002982626] Chr12:115984250 [GRCh38]
Chr12:116422055 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg) single nucleotide variant Inborn genetic diseases [RCV002917034] Chr12:116237686 [GRCh38]
Chr12:116675491 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002914752] Chr12:116005873 [GRCh38]
Chr12:116443678 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002574616] Chr12:115986387 [GRCh38]
Chr12:116424192 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002624002] Chr12:115980768 [GRCh38]
Chr12:116418573 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003085060] Chr12:116022470 [GRCh38]
Chr12:116460275 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002790190] Chr12:115984253 [GRCh38]
Chr12:116422058 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002828424] Chr12:116007593 [GRCh38]
Chr12:116445398 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.1839C>T (p.Ser613=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002664145] Chr12:116008574 [GRCh38]
Chr12:116446379 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003059270] Chr12:115997056 [GRCh38]
Chr12:116434861 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1338A>C (p.Gln446His) single nucleotide variant Inborn genetic diseases [RCV002892501] Chr12:116009075 [GRCh38]
Chr12:116446880 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4115-18A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002928222] Chr12:115986507 [GRCh38]
Chr12:116424312 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002954413] Chr12:115970715 [GRCh38]
Chr12:116408520 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2013-10_2013-9insTTG insertion MED13L-related condition [RCV003898612]|Transposition of the great arteries, dextro-looped [RCV002928294] Chr12:116007645..116007646 [GRCh38]
Chr12:116445450..116445451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003010339] Chr12:116009017 [GRCh38]
Chr12:116446822 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe) single nucleotide variant Inborn genetic diseases [RCV002813485] Chr12:115984216 [GRCh38]
Chr12:116422021 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002650011] Chr12:116019254 [GRCh38]
Chr12:116457059 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002966526]|not provided [RCV003395546] Chr12:115984329 [GRCh38]
Chr12:116422134 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.626-13C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002602765] Chr12:116019985 [GRCh38]
Chr12:116457790 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2081A>G (p.His694Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002834950] Chr12:116007568 [GRCh38]
Chr12:116445373 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu) single nucleotide variant Inborn genetic diseases [RCV002900793] Chr12:116022516 [GRCh38]
Chr12:116460321 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003044895] Chr12:115975610 [GRCh38]
Chr12:116413415 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5365-16T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003060589] Chr12:115975754 [GRCh38]
Chr12:116413559 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002646657] Chr12:116096673 [GRCh38]
Chr12:116534478 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002856188] Chr12:115987158 [GRCh38]
Chr12:116424963 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3802A>G (p.Asn1268Asp) single nucleotide variant Inborn genetic diseases [RCV002832617] Chr12:115991152 [GRCh38]
Chr12:116428957 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2621A>C (p.His874Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002899542] Chr12:115997179 [GRCh38]
Chr12:116434984 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs) duplication Transposition of the great arteries, dextro-looped [RCV002833383] Chr12:115966229..115966230 [GRCh38]
Chr12:116404034..116404035 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002963128] Chr12:115991627 [GRCh38]
Chr12:116429432 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu) single nucleotide variant Inborn genetic diseases [RCV002703572]|Transposition of the great arteries, dextro-looped [RCV003497968] Chr12:116008542 [GRCh38]
Chr12:116446347 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002857163] Chr12:116007474 [GRCh38]
Chr12:116445279 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003060966] Chr12:116007429 [GRCh38]
Chr12:116445234 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2997-11T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002629257] Chr12:115991968 [GRCh38]
Chr12:116429773 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.3285G>A (p.Val1095=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002857185] Chr12:115991669 [GRCh38]
Chr12:116429474 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003028367] Chr12:115983441 [GRCh38]
Chr12:116421246 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.166A>G (p.Ile56Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003086558] Chr12:116237612 [GRCh38]
Chr12:116675417 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6387+4G>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002895466] Chr12:115966078 [GRCh38]
Chr12:116403883 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003064876] Chr12:116022587 [GRCh38]
Chr12:116460392 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002649564] Chr12:115991699 [GRCh38]
Chr12:116429504 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu) single nucleotide variant Inborn genetic diseases [RCV002965458]|Transposition of the great arteries, dextro-looped [RCV003778016] Chr12:116006390 [GRCh38]
Chr12:116444195 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser) single nucleotide variant Inborn genetic diseases [RCV002897131] Chr12:115983205 [GRCh38]
Chr12:116421010 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6067+7A>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002961998] Chr12:115970587 [GRCh38]
Chr12:116408392 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003088135] Chr12:115991069 [GRCh38]
Chr12:116428874 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.83C>T (p.Thr28Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002629867] Chr12:116237695 [GRCh38]
Chr12:116675500 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5176-8G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002714993] Chr12:115980946 [GRCh38]
Chr12:116418751 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003010091] Chr12:116015156 [GRCh38]
Chr12:116452961 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6500+18C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003086820] Chr12:115963389 [GRCh38]
Chr12:116401194 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003089768] Chr12:115984202 [GRCh38]
Chr12:116422007 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003011487]|not provided [RCV003883860] Chr12:115986485 [GRCh38]
Chr12:116424290 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4956-3C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003063330] Chr12:115982606 [GRCh38]
Chr12:116420411 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.327C>T (p.Leu109=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003063430] Chr12:116111496 [GRCh38]
Chr12:116549301 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2570-14T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002900130] Chr12:115997244 [GRCh38]
Chr12:116435049 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4339-20G>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002895905] Chr12:115984392 [GRCh38]
Chr12:116422197 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003090499] Chr12:115968976 [GRCh38]
Chr12:116406781 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1010-12C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003065381] Chr12:116015286 [GRCh38]
Chr12:116453091 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5589-17A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002834343] Chr12:115975330 [GRCh38]
Chr12:116413135 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003009481] Chr12:115986327 [GRCh38]
Chr12:116424132 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002895781] Chr12:115972170 [GRCh38]
Chr12:116409975 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2238+13dup duplication Transposition of the great arteries, dextro-looped [RCV002603473] Chr12:116007397..116007398 [GRCh38]
Chr12:116445202..116445203 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003051285] Chr12:116019840 [GRCh38]
Chr12:116457645 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002605168] Chr12:115975613 [GRCh38]
Chr12:116413418 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1563C>T (p.Ser521=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003092418] Chr12:116008850 [GRCh38]
Chr12:116446655 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln) single nucleotide variant Inborn genetic diseases [RCV002943445]|Transposition of the great arteries, dextro-looped [RCV002943444] Chr12:115996554 [GRCh38]
Chr12:116434359 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2845A>G (p.Met949Val) single nucleotide variant Inborn genetic diseases [RCV003066438]|Transposition of the great arteries, dextro-looped [RCV003066437] Chr12:115996627 [GRCh38]
Chr12:116434432 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn) single nucleotide variant MED13L-related condition [RCV003410137]|Transposition of the great arteries, dextro-looped [RCV002654707] Chr12:115991025 [GRCh38]
Chr12:116428830 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.2996+7A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003069025]|not provided [RCV003404059] Chr12:115996469 [GRCh38]
Chr12:116434274 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2790+11A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002943044] Chr12:115996999 [GRCh38]
Chr12:116434804 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002633661] Chr12:115991203 [GRCh38]
Chr12:116429008 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4532-20C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002603453] Chr12:115983560 [GRCh38]
Chr12:116421365 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002584933] Chr12:115997138 [GRCh38]
Chr12:116434943 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.70C>T (p.Leu24=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003066206] Chr12:116277062 [GRCh38]
Chr12:116714867 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003070239] Chr12:115991171 [GRCh38]
Chr12:116428976 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002721557] Chr12:115975652 [GRCh38]
Chr12:116413457 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5891-16A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003093776] Chr12:115970786 [GRCh38]
Chr12:116408591 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003071533] Chr12:115991585 [GRCh38]
Chr12:116429390 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003050987] Chr12:115983218 [GRCh38]
Chr12:116421023 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003071616] Chr12:115975308 [GRCh38]
Chr12:116413113 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5175+11G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002587196] Chr12:115982373 [GRCh38]
Chr12:116420178 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002588402] Chr12:115983447 [GRCh38]
Chr12:116421252 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003092540] Chr12:115984227 [GRCh38]
Chr12:116422032 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002654128]|not provided [RCV003389910] Chr12:115991459 [GRCh38]
Chr12:116429264 [GRCh37]
Chr12:12q24.21		 benign|likely benign
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003067737] Chr12:115975194 [GRCh38]
Chr12:116412999 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002943667] Chr12:115982535 [GRCh38]
Chr12:116420340 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6387+20A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002585227] Chr12:115966062 [GRCh38]
Chr12:116403867 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003071857] Chr12:115991859 [GRCh38]
Chr12:116429664 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002634096] Chr12:115983235 [GRCh38]
Chr12:116421040 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003072609] Chr12:115991662 [GRCh38]
Chr12:116429467 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003492798]|Transposition of the great arteries, dextro-looped [RCV003072855] Chr12:115972171 [GRCh38]
Chr12:116409976 [GRCh37]
Chr12:12q24.21		 benign|uncertain significance
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala) single nucleotide variant Inborn genetic diseases [RCV002723024] Chr12:115991725 [GRCh38]
Chr12:116429530 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002612403] Chr12:115984364 [GRCh38]
Chr12:116422169 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.625+15T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV002582375] Chr12:116022441 [GRCh38]
Chr12:116460246 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132632] Chr12:116015217 [GRCh38]
Chr12:116453022 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132638] Chr12:116012810 [GRCh38]
Chr12:116450615 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132636] Chr12:116008668 [GRCh38]
Chr12:116446473 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132629] Chr12:115996543 [GRCh38]
Chr12:116434348 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131577] Chr12:116015143 [GRCh38]
Chr12:116452948 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132630] Chr12:115991126 [GRCh38]
Chr12:116428931 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2598C>T (p.Pro866=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132631] Chr12:115997202 [GRCh38]
Chr12:116435007 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2952A>G (p.Gln984=) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132633] Chr12:115996520 [GRCh38]
Chr12:116434325 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132634] Chr12:115968981 [GRCh38]
Chr12:116406786 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132635] Chr12:116096670 [GRCh38]
Chr12:116534475 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132637] Chr12:115984338 [GRCh38]
Chr12:116422143 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003132639] Chr12:115966113 [GRCh38]
Chr12:116403918 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131573] Chr12:115983122 [GRCh38]
Chr12:116420927 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003131578]|Transposition of the great arteries, dextro-looped [RCV003603148] Chr12:115983339 [GRCh38]
Chr12:116421144 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro) single nucleotide variant Inborn genetic diseases [RCV003220757] Chr12:115983451 [GRCh38]
Chr12:116421256 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg) single nucleotide variant Inborn genetic diseases [RCV003188835] Chr12:115975299 [GRCh38]
Chr12:116413104 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003214132] Chr12:115986472 [GRCh38]
Chr12:116424277 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val) single nucleotide variant not provided [RCV003159531] Chr12:116008654 [GRCh38]
Chr12:116446459 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5957A>G (p.Asn1986Ser) single nucleotide variant not provided [RCV003222777] Chr12:115970704 [GRCh38]
Chr12:116408509 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3881T>A (p.Val1294Glu) single nucleotide variant Inborn genetic diseases [RCV003213225] Chr12:115991073 [GRCh38]
Chr12:116428878 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003224951] Chr12:115982520 [GRCh38]
Chr12:116420325 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe) single nucleotide variant not provided [RCV003228370] Chr12:116237699 [GRCh38]
Chr12:116675504 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter) single nucleotide variant not provided [RCV003222778] Chr12:115987262 [GRCh38]
Chr12:116425067 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.26C>T (p.Ala9Val) single nucleotide variant not provided [RCV003225494] Chr12:116277106 [GRCh38]
Chr12:116714911 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003142623] Chr12:115996489 [GRCh38]
Chr12:116434294 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003142624] Chr12:115980920 [GRCh38]
Chr12:116418725 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003142625] Chr12:115961273 [GRCh38]
Chr12:116399078 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg) single nucleotide variant not provided [RCV003227206] Chr12:116019946 [GRCh38]
Chr12:116457751 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003140555] Chr12:115984325 [GRCh38]
Chr12:116422130 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe) single nucleotide variant Inborn genetic diseases [RCV003183652]|Transposition of the great arteries, dextro-looped [RCV003603151] Chr12:115983327 [GRCh38]
Chr12:116421132 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile) single nucleotide variant not provided [RCV003229123] Chr12:115996625 [GRCh38]
Chr12:116434430 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg) single nucleotide variant not provided [RCV003225555] Chr12:116008461 [GRCh38]
Chr12:116446266 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.626-1_626dup duplication not provided [RCV003325334] Chr12:116019971..116019972 [GRCh38]
Chr12:116457776..116457777 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5650A>C (p.Ile1884Leu) single nucleotide variant not provided [RCV003321990] Chr12:115975252 [GRCh38]
Chr12:116413057 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.311-1G>A single nucleotide variant not provided [RCV003322246] Chr12:116111513 [GRCh38]
Chr12:116549318 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter) single nucleotide variant not provided [RCV003322483] Chr12:115970741 [GRCh38]
Chr12:116408546 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.199A>G (p.Asn67Asp) single nucleotide variant not provided [RCV003322077] Chr12:116237579 [GRCh38]
Chr12:116675384 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile) single nucleotide variant not provided [RCV003321100] Chr12:116019292 [GRCh38]
Chr12:116457097 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003327359] Chr12:115966234..115966235 [GRCh38]
Chr12:116404039..116404040 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr) single nucleotide variant not provided [RCV003328892] Chr12:116237633 [GRCh38]
Chr12:116675438 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2950C>A (p.Gln984Lys) single nucleotide variant not provided [RCV003329587] Chr12:115996522 [GRCh38]
Chr12:116434327 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003330179] Chr12:116022471 [GRCh38]
Chr12:116460276 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6331del (p.Gln2111fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003329108] Chr12:115966138 [GRCh38]
Chr12:116403943 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003337954] Chr12:116277085 [GRCh38]
Chr12:116714890 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6164del (p.Pro2055fs) deletion not provided [RCV003334152] Chr12:115969001 [GRCh38]
Chr12:116406806 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser) single nucleotide variant Inborn genetic diseases [RCV003378754]|Transposition of the great arteries, dextro-looped [RCV003497994] Chr12:116007452 [GRCh38]
Chr12:116445257 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala) single nucleotide variant not provided [RCV003332718] Chr12:115970651 [GRCh38]
Chr12:116408456 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys) single nucleotide variant MED13L-related condition [RCV003420957]|Transposition of the great arteries, dextro-looped [RCV003498004] Chr12:116012797 [GRCh38]
Chr12:116450602 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003333436] Chr12:116237561 [GRCh38]
Chr12:116675366 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6067+5G>A single nucleotide variant not provided [RCV003332879] Chr12:115970589 [GRCh38]
Chr12:116408394 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser) single nucleotide variant Inborn genetic diseases [RCV003362273] Chr12:115986457 [GRCh38]
Chr12:116424262 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003458281] Chr12:115986421 [GRCh38]
Chr12:116424226 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603995] Chr12:116003063 [GRCh38]
Chr12:116440868 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604087] Chr12:115987263 [GRCh38]
Chr12:116425068 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3060A>C (p.Thr1020=) single nucleotide variant not provided [RCV003456831] Chr12:115991894 [GRCh38]
Chr12:116429699 [GRCh37]
Chr12:12q24.21		 likely benign
GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1 copy number loss not provided [RCV003483174] Chr12:116499832..118681240 [GRCh37]
Chr12:12q24.21-24.23		 pathogenic
NM_015335.5(MED13L):c.6057C>T (p.Ser2019=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003880338] Chr12:115970604 [GRCh38]
Chr12:116408409 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1758A>T (p.Gly586=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603562] Chr12:116008655 [GRCh38]
Chr12:116446460 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6388-13G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603512] Chr12:115963532 [GRCh38]
Chr12:116401337 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603708] Chr12:115982449 [GRCh38]
Chr12:116420254 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603733] Chr12:115991364 [GRCh38]
Chr12:116429169 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116448190-116603459)x3 copy number gain not provided [RCV003484879] Chr12:116448190..116603459 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3503T>C (p.Met1168Thr) single nucleotide variant not provided [RCV003392060] Chr12:115991451 [GRCh38]
Chr12:116429256 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2255G>C (p.Gly752Ala) single nucleotide variant not provided [RCV003392061] Chr12:116006395 [GRCh38]
Chr12:116444200 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1286A>G (p.Lys429Arg) single nucleotide variant not provided [RCV003392062] Chr12:116009127 [GRCh38]
Chr12:116446932 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21(chr12:116314744-116499832)x3 copy number gain not provided [RCV003484878] Chr12:116314744..116499832 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del) microsatellite not provided [RCV003441558] Chr12:115983347..115983349 [GRCh38]
Chr12:116421152..116421154 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3425G>A (p.Gly1142Glu) single nucleotide variant MED13L-related condition [RCV003402883] Chr12:115991529 [GRCh38]
Chr12:116429334 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly) single nucleotide variant not specified [RCV003404826] Chr12:116008969 [GRCh38]
Chr12:116446774 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro) single nucleotide variant MED13L-related condition [RCV003427879] Chr12:115984332 [GRCh38]
Chr12:116422137 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5215G>A (p.Glu1739Lys) single nucleotide variant MED13L-related condition [RCV003406054] Chr12:115980899 [GRCh38]
Chr12:116418704 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003444412] Chr12:116007422 [GRCh38]
Chr12:116445227 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu) single nucleotide variant not provided [RCV003390311] Chr12:116022480 [GRCh38]
Chr12:116460285 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003388894] Chr12:115972231 [GRCh38]
Chr12:116410036 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4899dup (p.Gly1634fs) duplication MED13L-related condition [RCV003397546] Chr12:115983172..115983173 [GRCh38]
Chr12:116420977..116420978 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5651T>C (p.Ile1884Thr) single nucleotide variant not provided [RCV003392051] Chr12:115975251 [GRCh38]
Chr12:116413056 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3556A>G (p.Ile1186Val) single nucleotide variant MED13L-related condition [RCV003412007] Chr12:115991398 [GRCh38]
Chr12:116429203 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1823T>C (p.Leu608Pro) single nucleotide variant MED13L-related condition [RCV003404401] Chr12:116008590 [GRCh38]
Chr12:116446395 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile) single nucleotide variant MED13L-related condition [RCV003404559] Chr12:115996476 [GRCh38]
Chr12:116434281 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe) single nucleotide variant MED13L-related condition [RCV003412239] Chr12:116006332 [GRCh38]
Chr12:116444137 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1704dup (p.Glu569fs) duplication MED13L-related condition [RCV003408521] Chr12:116008708..116008709 [GRCh38]
Chr12:116446513..116446514 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=) single nucleotide variant not provided [RCV003392052] Chr12:115980879 [GRCh38]
Chr12:116418684 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4921A>G (p.Ser1641Gly) single nucleotide variant not provided [RCV003392053] Chr12:115983151 [GRCh38]
Chr12:116420956 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4722A>C (p.Ala1574=) single nucleotide variant not provided [RCV003392054] Chr12:115983350 [GRCh38]
Chr12:116421155 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile) single nucleotide variant not provided [RCV003392055] Chr12:115984284 [GRCh38]
Chr12:116422089 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3768T>C (p.Cys1256=) single nucleotide variant not provided [RCV003392056] Chr12:115991186 [GRCh38]
Chr12:116428991 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3756A>G (p.Gln1252=) single nucleotide variant not provided [RCV003392057] Chr12:115991198 [GRCh38]
Chr12:116429003 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3666C>T (p.Pro1222=) single nucleotide variant not provided [RCV003392058] Chr12:115991288 [GRCh38]
Chr12:116429093 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3630T>A (p.Pro1210=) single nucleotide variant not provided [RCV003392059] Chr12:115991324 [GRCh38]
Chr12:116429129 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5176A>G (p.Ile1726Val) single nucleotide variant MED13L-related condition [RCV003414173] Chr12:115980938 [GRCh38]
Chr12:116418743 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val) single nucleotide variant not provided [RCV003442409] Chr12:115975192 [GRCh38]
Chr12:116412997 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5973T>G (p.Ala1991=) single nucleotide variant not provided [RCV003398215] Chr12:115970688 [GRCh38]
Chr12:116408493 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser) single nucleotide variant not provided [RCV003443221] Chr12:115983372 [GRCh38]
Chr12:116421177 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5614C>T (p.Arg1872Cys) single nucleotide variant MED13L-related condition [RCV003417112] Chr12:115975288 [GRCh38]
Chr12:116413093 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu) single nucleotide variant not provided [RCV003441272] Chr12:116012851 [GRCh38]
Chr12:116450656 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2635C>A (p.Pro879Thr) single nucleotide variant MED13L-related condition [RCV003420873] Chr12:115997165 [GRCh38]
Chr12:116434970 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5665A>G (p.Met1889Val) single nucleotide variant MED13L-related condition [RCV003414103] Chr12:115975237 [GRCh38]
Chr12:116413042 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603931] Chr12:115983197 [GRCh38]
Chr12:116421002 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2790+18A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604058] Chr12:115996992 [GRCh38]
Chr12:116434797 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6303A>G (p.Val2101=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604076] Chr12:115966166 [GRCh38]
Chr12:116403971 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602998] Chr12:115983140 [GRCh38]
Chr12:116420945 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602841] Chr12:115991211 [GRCh38]
Chr12:116429016 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6388-21CT[2] microsatellite Transposition of the great arteries, dextro-looped [RCV003602821] Chr12:115963535..115963536 [GRCh38]
Chr12:116401340..116401341 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG insertion Transposition of the great arteries, dextro-looped [RCV003604494] Chr12:115966070..115966071 [GRCh38]
Chr12:116403875..116403876 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6068-17del deletion Transposition of the great arteries, dextro-looped [RCV003603015] Chr12:115969114 [GRCh38]
Chr12:116406919 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2013-9dup duplication MED13L-related condition [RCV003909175]|Transposition of the great arteries, dextro-looped [RCV003827292] Chr12:116007644..116007645 [GRCh38]
Chr12:116445449..116445450 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3882G>A (p.Val1294=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604700] Chr12:115991072 [GRCh38]
Chr12:116428877 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2268C>G (p.Val756=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602871] Chr12:116006382 [GRCh38]
Chr12:116444187 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602874] Chr12:115996618 [GRCh38]
Chr12:116434423 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.942T>C (p.Ser314=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602876] Chr12:116019291 [GRCh38]
Chr12:116457096 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604710] Chr12:115983119 [GRCh38]
Chr12:116420924 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603585] Chr12:115983298 [GRCh38]
Chr12:116421103 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5175+1G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603230] Chr12:115982383 [GRCh38]
Chr12:116420188 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2226G>C (p.Leu742=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603669] Chr12:116007423 [GRCh38]
Chr12:116445228 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.625+8T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603526] Chr12:116022448 [GRCh38]
Chr12:116460253 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603752] Chr12:115986276 [GRCh38]
Chr12:116424081 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003605061] Chr12:115966140 [GRCh38]
Chr12:116403945 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602929] Chr12:116009116 [GRCh38]
Chr12:116446921 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602915] Chr12:115982602 [GRCh38]
Chr12:116420407 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602894] Chr12:115991659 [GRCh38]
Chr12:116429464 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2289G>T (p.Thr763=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602948] Chr12:116006361 [GRCh38]
Chr12:116444166 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602815] Chr12:116008862 [GRCh38]
Chr12:116446667 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602704] Chr12:116008599 [GRCh38]
Chr12:116446404 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603857] Chr12:116005963 [GRCh38]
Chr12:116443768 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.359C>T (p.Thr120Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603800]|not provided [RCV003885371] Chr12:116111464 [GRCh38]
Chr12:116549269 [GRCh37]
Chr12:12q24.21		 likely benign|uncertain significance
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603808] Chr12:115991741 [GRCh38]
Chr12:116429546 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603834] Chr12:116022503 [GRCh38]
Chr12:116460308 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603923] Chr12:115991356 [GRCh38]
Chr12:116429161 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604683] Chr12:116008776 [GRCh38]
Chr12:116446581 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604738] Chr12:116007539 [GRCh38]
Chr12:116445344 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.4339-9T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603774] Chr12:115984381 [GRCh38]
Chr12:116422186 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603778] Chr12:115980922 [GRCh38]
Chr12:116418727 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603962] Chr12:115991295 [GRCh38]
Chr12:116429100 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604880] Chr12:116008824 [GRCh38]
Chr12:116446629 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604967] Chr12:115983194 [GRCh38]
Chr12:116420999 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.813A>G (p.Val271=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003880344] Chr12:116019785 [GRCh38]
Chr12:116457590 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604885] Chr12:115991840 [GRCh38]
Chr12:116429645 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.867G>C (p.Gln289His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603566] Chr12:116019366 [GRCh38]
Chr12:116457171 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3779del (p.Ser1260fs) deletion Transposition of the great arteries, dextro-looped [RCV003603496] Chr12:115991175 [GRCh38]
Chr12:116428980 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603660] Chr12:116008573 [GRCh38]
Chr12:116446378 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003493076] Chr12:116012803 [GRCh38]
Chr12:116450608 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3459del (p.Asn1154fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003492903] Chr12:115991495 [GRCh38]
Chr12:116429300 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603726] Chr12:115991689 [GRCh38]
Chr12:116429494 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604564] Chr12:115982502 [GRCh38]
Chr12:116420307 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603787] Chr12:115983450 [GRCh38]
Chr12:116421255 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604312] Chr12:116008927 [GRCh38]
Chr12:116446732 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003883266] Chr12:115975180 [GRCh38]
Chr12:116412985 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602615] Chr12:115986467 [GRCh38]
Chr12:116424272 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2523C>T (p.Asp841=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003602634] Chr12:116003049 [GRCh38]
Chr12:116440854 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604552] Chr12:115963453 [GRCh38]
Chr12:116401258 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003879961] Chr12:115983503 [GRCh38]
Chr12:116421308 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2489G>A (p.Arg830His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003878865] Chr12:116003083 [GRCh38]
Chr12:116440888 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604862] Chr12:115991024 [GRCh38]
Chr12:116428829 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2239-3_2239-2del deletion Transposition of the great arteries, dextro-looped [RCV003604953] Chr12:116006413..116006414 [GRCh38]
Chr12:116444218..116444219 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003605030] Chr12:116008755 [GRCh38]
Chr12:116446560 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603603] Chr12:115991167 [GRCh38]
Chr12:116428972 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4161A>G (p.Val1387=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003830347] Chr12:115986443 [GRCh38]
Chr12:116424248 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.732G>A (p.Pro244=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603684] Chr12:116019866 [GRCh38]
Chr12:116457671 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5175+19A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603621] Chr12:115982365 [GRCh38]
Chr12:116420170 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2345-8T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603910] Chr12:116006001 [GRCh38]
Chr12:116443806 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604146] Chr12:115997215 [GRCh38]
Chr12:116435020 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003830088] Chr12:115980754 [GRCh38]
Chr12:116418559 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604949] Chr12:115991939 [GRCh38]
Chr12:116429744 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2570-8A>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603648] Chr12:115997238 [GRCh38]
Chr12:116435043 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003756651]|Transposition of the great arteries, dextro-looped [RCV003779380] Chr12:116019404 [GRCh38]
Chr12:116457209 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1175+12C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604415] Chr12:116015097 [GRCh38]
Chr12:116452902 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2012+12C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603685] Chr12:116008389 [GRCh38]
Chr12:116446194 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603809] Chr12:115986413 [GRCh38]
Chr12:116424218 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6387+8del deletion Transposition of the great arteries, dextro-looped [RCV003604495] Chr12:115966074 [GRCh38]
Chr12:116403879 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del) microsatellite Transposition of the great arteries, dextro-looped [RCV003603845] Chr12:115991266..115991268 [GRCh38]
Chr12:116429071..116429073 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.789T>C (p.Asp263=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003879413] Chr12:116019809 [GRCh38]
Chr12:116457614 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604510] Chr12:115983352 [GRCh38]
Chr12:116421157 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604891] Chr12:115991260 [GRCh38]
Chr12:116429065 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5365-15T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604884] Chr12:115975753 [GRCh38]
Chr12:116413558 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.480-9C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604962] Chr12:116022610 [GRCh38]
Chr12:116460415 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003605034] Chr12:115987219 [GRCh38]
Chr12:116425024 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603806] Chr12:115983456 [GRCh38]
Chr12:116421261 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6388-4C>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603868] Chr12:115963523 [GRCh38]
Chr12:116401328 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5891-16A>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603930] Chr12:115970786 [GRCh38]
Chr12:116408591 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603935] Chr12:115991106 [GRCh38]
Chr12:116428911 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6068-13C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603988] Chr12:115969110 [GRCh38]
Chr12:116406915 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603989] Chr12:115983374 [GRCh38]
Chr12:116421179 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604004] Chr12:116008516 [GRCh38]
Chr12:116446321 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2238+13A>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604014] Chr12:116007398 [GRCh38]
Chr12:116445203 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604063] Chr12:116015208 [GRCh38]
Chr12:116453013 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604071] Chr12:116008764 [GRCh38]
Chr12:116446569 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604247] Chr12:115984191 [GRCh38]
Chr12:116421996 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2485C>T (p.Leu829=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604290] Chr12:116003087 [GRCh38]
Chr12:116440892 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603592] Chr12:115991789 [GRCh38]
Chr12:116429594 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603597] Chr12:116015220 [GRCh38]
Chr12:116453025 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603641] Chr12:115975690 [GRCh38]
Chr12:116413495 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5607A>T (p.Val1869=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003604908] Chr12:115975295 [GRCh38]
Chr12:116413100 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.227T>C (p.Val76Ala) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003493077] Chr12:116237551 [GRCh38]
Chr12:116675356 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603712] Chr12:115982507 [GRCh38]
Chr12:116420312 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603731] Chr12:115986444 [GRCh38]
Chr12:116424249 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497495] Chr12:115986438 [GRCh38]
Chr12:116424243 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497580] Chr12:116008585 [GRCh38]
Chr12:116446390 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1482C>T (p.Ala494=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497553] Chr12:116008931 [GRCh38]
Chr12:116446736 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497599] Chr12:115991618 [GRCh38]
Chr12:116429423 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1884A>T (p.Ser628=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603301] Chr12:116008529 [GRCh38]
Chr12:116446334 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603405] Chr12:115980819 [GRCh38]
Chr12:116418624 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1344G>A (p.Gly448=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603461] Chr12:116009069 [GRCh38]
Chr12:116446874 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1176-3T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603322] Chr12:116012904 [GRCh38]
Chr12:116450709 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603538] Chr12:116009058 [GRCh38]
Chr12:116446863 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603377] Chr12:116003089 [GRCh38]
Chr12:116440894 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499040] Chr12:115975646 [GRCh38]
Chr12:116413451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499115] Chr12:115980903 [GRCh38]
Chr12:116418708 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5818del (p.Ala1940fs) deletion Transposition of the great arteries, dextro-looped [RCV003498228] Chr12:115972150 [GRCh38]
Chr12:116409955 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498229] Chr12:115991611 [GRCh38]
Chr12:116429416 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498337] Chr12:116008440 [GRCh38]
Chr12:116446245 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498451] Chr12:115991478 [GRCh38]
Chr12:116429283 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1362A>G (p.Ser454=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497408] Chr12:116009051 [GRCh38]
Chr12:116446856 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg) single nucleotide variant MED13L-related condition [RCV003919259]|Transposition of the great arteries, dextro-looped [RCV003499038] Chr12:115975563 [GRCh38]
Chr12:116413368 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499101] Chr12:116237644 [GRCh38]
Chr12:116675449 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497445] Chr12:116003042 [GRCh38]
Chr12:116440847 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497598] Chr12:116022600 [GRCh38]
Chr12:116460405 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4715del (p.Asn1572fs) deletion Transposition of the great arteries, dextro-looped [RCV003498627] Chr12:115983357 [GRCh38]
Chr12:116421162 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498491] Chr12:115970732 [GRCh38]
Chr12:116408537 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498495] Chr12:116003014 [GRCh38]
Chr12:116440819 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499131] Chr12:116009064 [GRCh38]
Chr12:116446869 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4955+1G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498674] Chr12:115983116 [GRCh38]
Chr12:116420921 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498075] Chr12:115987269 [GRCh38]
Chr12:116425074 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498086] Chr12:116008784 [GRCh38]
Chr12:116446589 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499179] Chr12:115966190 [GRCh38]
Chr12:116403995 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1176-9C>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499514] Chr12:116012910 [GRCh38]
Chr12:116450715 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1281-17G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499716] Chr12:116009149 [GRCh38]
Chr12:116446954 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.73-19A>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499789] Chr12:116237724 [GRCh38]
Chr12:116675529 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.480-15T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003839647] Chr12:116022616 [GRCh38]
Chr12:116460421 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1650C>G (p.Ser550=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497606] Chr12:116008763 [GRCh38]
Chr12:116446568 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5365-18T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498242] Chr12:115975756 [GRCh38]
Chr12:116413561 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003856246] Chr12:116237672 [GRCh38]
Chr12:116675477 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1298G>A (p.Arg433His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499058] Chr12:116009115 [GRCh38]
Chr12:116446920 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2470-12G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499087] Chr12:116003114 [GRCh38]
Chr12:116440919 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499232] Chr12:115991309 [GRCh38]
Chr12:116429114 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499281] Chr12:115970601 [GRCh38]
Chr12:116408406 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003856556] Chr12:115991213 [GRCh38]
Chr12:116429018 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5175+10T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603511] Chr12:115982374 [GRCh38]
Chr12:116420179 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.338G>T (p.Gly113Val) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003756654] Chr12:116111485 [GRCh38]
Chr12:116549290 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.311-10_311-4del deletion Transposition of the great arteries, dextro-looped [RCV003499214] Chr12:116111516..116111522 [GRCh38]
Chr12:116549321..116549327 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.395+9A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499171] Chr12:116111419 [GRCh38]
Chr12:116549224 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499278] Chr12:115984192 [GRCh38]
Chr12:116421997 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499334] Chr12:115969009 [GRCh38]
Chr12:116406814 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4114+8C>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497369] Chr12:115987101 [GRCh38]
Chr12:116424906 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499734] Chr12:116009019 [GRCh38]
Chr12:116446824 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.672A>G (p.Ala224=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497593] Chr12:116019926 [GRCh38]
Chr12:116457731 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497697] Chr12:116015248 [GRCh38]
Chr12:116453053 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2022A>C (p.Ala674=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499768] Chr12:116007627 [GRCh38]
Chr12:116445432 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4531+17T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499756] Chr12:115984163 [GRCh38]
Chr12:116421968 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499662] Chr12:115975621 [GRCh38]
Chr12:116413426 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.396-14T>C single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499656] Chr12:116096766 [GRCh38]
Chr12:116534571 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6067+16G>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499694] Chr12:115970578 [GRCh38]
Chr12:116408383 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499948] Chr12:115983123 [GRCh38]
Chr12:116420928 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498374] Chr12:116015211 [GRCh38]
Chr12:116453016 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498535] Chr12:115996476 [GRCh38]
Chr12:116434281 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003817542] Chr12:115961337 [GRCh38]
Chr12:116399142 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498928] Chr12:116277125 [GRCh38]
Chr12:116714930 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala) single nucleotide variant MED13L-related condition [RCV003901140]|Transposition of the great arteries, dextro-looped [RCV003499169] Chr12:115996507 [GRCh38]
Chr12:116434312 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497687] Chr12:116096676 [GRCh38]
Chr12:116534481 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5589-15T>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003836067] Chr12:115975328 [GRCh38]
Chr12:116413133 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499268] Chr12:115975658 [GRCh38]
Chr12:116413463 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.211G>A (p.Val71Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497791] Chr12:116237567 [GRCh38]
Chr12:116675372 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498038] Chr12:116096711 [GRCh38]
Chr12:116534516 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603293] Chr12:115991504 [GRCh38]
Chr12:116429309 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499717] Chr12:116008438 [GRCh38]
Chr12:116446243 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499834] Chr12:115975637 [GRCh38]
Chr12:116413442 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5589-29TTCCCC[3] microsatellite Transposition of the great arteries, dextro-looped [RCV003499866] Chr12:115975330..115975331 [GRCh38]
Chr12:116413135..116413136 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499786] Chr12:116277073 [GRCh38]
Chr12:116714878 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4114+8C>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003838760] Chr12:115987101 [GRCh38]
Chr12:116424906 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5891-8C>A single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497493] Chr12:115970778 [GRCh38]
Chr12:116408583 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.2470-15A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497541] Chr12:116003117 [GRCh38]
Chr12:116440922 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497571] Chr12:116008414 [GRCh38]
Chr12:116446219 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497758] Chr12:115991831 [GRCh38]
Chr12:116429636 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497452] Chr12:115983241 [GRCh38]
Chr12:116421046 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498090] Chr12:116008609 [GRCh38]
Chr12:116446414 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2925A>T (p.Ser975=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003603370] Chr12:115996547 [GRCh38]
Chr12:116434352 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.727T>C (p.Tyr243His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003497475] Chr12:116019871 [GRCh38]
Chr12:116457676 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498120] Chr12:115991368 [GRCh38]
Chr12:116429173 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498279] Chr12:115983431 [GRCh38]
Chr12:116421236 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003815795] Chr12:116012806 [GRCh38]
Chr12:116450611 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498187] Chr12:115975622 [GRCh38]
Chr12:116413427 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.2570-15A>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498145] Chr12:115997245 [GRCh38]
Chr12:116435050 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499778] Chr12:116009094 [GRCh38]
Chr12:116446899 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1617A>G (p.Gln539=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498372] Chr12:116008796 [GRCh38]
Chr12:116446601 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498918] Chr12:115991359 [GRCh38]
Chr12:116429164 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003498904] Chr12:115986357 [GRCh38]
Chr12:116424162 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499231] Chr12:116015148 [GRCh38]
Chr12:116452953 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1803C>T (p.Leu601=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499042] Chr12:116008610 [GRCh38]
Chr12:116446415 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003834057] Chr12:115983306 [GRCh38]
Chr12:116421111 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.780A>G (p.Gly260=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499392] Chr12:116019818 [GRCh38]
Chr12:116457623 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5365-20G>T single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499398] Chr12:115975758 [GRCh38]
Chr12:116413563 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499542] Chr12:115980861 [GRCh38]
Chr12:116418666 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499640] Chr12:115966168 [GRCh38]
Chr12:116403973 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499530] Chr12:115972137 [GRCh38]
Chr12:116409942 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499567] Chr12:115991876 [GRCh38]
Chr12:116429681 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1617A>C (p.Gln539His) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499573] Chr12:116008796 [GRCh38]
Chr12:116446601 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla) indel Transposition of the great arteries, dextro-looped [RCV003499664] Chr12:116019916..116019917 [GRCh38]
Chr12:116457721..116457722 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2469+18A>G single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003499586] Chr12:116005851 [GRCh38]
Chr12:116443656 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003847476] Chr12:116019230 [GRCh38]
Chr12:116457035 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003864077] Chr12:115972141 [GRCh38]
Chr12:116409946 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2826A>G (p.Gln942=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003842556] Chr12:115996646 [GRCh38]
Chr12:116434451 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003857741] Chr12:115983433 [GRCh38]
Chr12:116421238 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2959A>G (p.Met987Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003857574] Chr12:115996513 [GRCh38]
Chr12:116434318 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003843983] Chr12:116237500 [GRCh38]
Chr12:116675305 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003872133] Chr12:115963466 [GRCh38]
Chr12:116401271 [GRCh37]
Chr12:12q24.21		 benign
GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1 copy number loss not specified [RCV003986986] Chr12:116693044..116725907 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003846328] Chr12:116008552 [GRCh38]
Chr12:116446357 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003985955] Chr12:115997194 [GRCh38]
Chr12:116434999 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.4955+13_4955+14insAAT insertion Transposition of the great arteries, dextro-looped [RCV003846428] Chr12:115983103..115983104 [GRCh38]
Chr12:116420908..116420909 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg) single nucleotide variant not provided [RCV003542591] Chr12:115991024 [GRCh38]
Chr12:116428829 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003847779] Chr12:116008862 [GRCh38]
Chr12:116446667 [GRCh37]
Chr12:12q24.21		 uncertain significance
GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1 copy number loss not specified [RCV003986982] Chr12:116535307..116557569 [GRCh37]
Chr12:12q24.21		 pathogenic
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala) single nucleotide variant Transposition of the great arteries, dextro-looped [RCV003848690] Chr12:115996638 [GRCh38]
Chr12:116434443 [GRCh37]
Chr12:12q24.21		 benign
NM_015335.5(MED13L):c.5344A>G (p.Met1782Val) single nucleotide variant MED13L-related condition [RCV003899658] Chr12:115980770 [GRCh38]
Chr12:116418575 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4478A>C (p.Asn1493Thr) single nucleotide variant not provided [RCV003885053] Chr12:115984233 [GRCh38]
Chr12:116422038 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4150A>G (p.Thr1384Ala) single nucleotide variant MED13L-related condition [RCV003902300] Chr12:115986454 [GRCh38]
Chr12:116424259 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del) deletion MED13L-related condition [RCV003983413] Chr12:115991573..115991578 [GRCh38]
Chr12:116429378..116429383 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3806A>G (p.Asn1269Ser) single nucleotide variant not provided [RCV003885041] Chr12:115991148 [GRCh38]
Chr12:116428953 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2013-7_2013-6del deletion MED13L-related condition [RCV003958964] Chr12:116007642..116007643 [GRCh38]
Chr12:116445447..116445448 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.5950C>T (p.Gln1984Ter) single nucleotide variant MED13L-related condition [RCV003974554] Chr12:115970711 [GRCh38]
Chr12:116408516 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu) single nucleotide variant MED13L-related condition [RCV003983369] Chr12:115975710 [GRCh38]
Chr12:116413515 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2013-7C>G single nucleotide variant MED13L-related condition [RCV003931869] Chr12:116007643 [GRCh38]
Chr12:116445448 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu) single nucleotide variant not provided [RCV003885161] Chr12:115961351 [GRCh38]
Chr12:116399156 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.2013-14_2013-10del deletion MED13L-related condition [RCV003904110] Chr12:116007646..116007650 [GRCh38]
Chr12:116445451..116445455 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.1092A>G (p.Arg364=) single nucleotide variant MED13L-related condition [RCV003897158] Chr12:116015192 [GRCh38]
Chr12:116452997 [GRCh37]
Chr12:12q24.21		 likely benign
NM_015335.5(MED13L):c.4670dup (p.Ala1558fs) duplication MED13L-related condition [RCV003911677] Chr12:115983401..115983402 [GRCh38]
Chr12:116421206..116421207 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs) deletion Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003984932] Chr12:116007614..116007617 [GRCh38]
Chr12:116445419..116445422 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr) single nucleotide variant Cardiac anomalies - developmental delay - facial dysmorphism syndrome [RCV003887835] Chr12:116022542 [GRCh38]
Chr12:116460347 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.3319del (p.His1107fs) deletion MED13L-related condition [RCV003982592] Chr12:115991635 [GRCh38]
Chr12:116429440 [GRCh37]
Chr12:12q24.21		 likely pathogenic
NM_015335.5(MED13L):c.5219A>T (p.Gln1740Leu) single nucleotide variant MED13L-related condition [RCV003899758] Chr12:115980895 [GRCh38]
Chr12:116418700 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.4490C>A (p.Ser1497Tyr) single nucleotide variant not provided [RCV003884092] Chr12:115984221 [GRCh38]
Chr12:116422026 [GRCh37]
Chr12:12q24.21		 uncertain significance
NM_015335.5(MED13L):c.1709G>A (p.Ser570Asn) single nucleotide variant MED13L-related condition [RCV003921562] Chr12:116008704 [GRCh38]
Chr12:116446509 [GRCh37]
Chr12:12q24.21		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2233
Count of miRNA genes:1053
Interacting mature miRNAs:1282
Transcripts:ENST00000281928, ENST00000548694, ENST00000548743, ENST00000548784, ENST00000549755, ENST00000549786, ENST00000551197, ENST00000552023, ENST00000552340, ENST00000552447
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SGC38179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,441,451 - 116,441,719UniSTSGRCh37
Build 3612114,925,834 - 114,926,102RGDNCBI36
Celera12116,071,055 - 116,071,323RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,452,422 - 113,452,690UniSTS
GeneMap99-GB4 RH Map12455.39UniSTS
Whitehead-RH Map12573.0UniSTS
D12S1112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,480,706 - 116,480,787UniSTSGRCh37
Build 3612114,965,089 - 114,965,170RGDNCBI36
Celera12116,110,311 - 116,110,392RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,492,099 - 113,492,180UniSTS
RH80999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,561,201 - 116,561,401UniSTSGRCh37
Build 3612115,045,584 - 115,045,784RGDNCBI36
Celera12116,190,800 - 116,191,000RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,572,908 - 113,573,108UniSTS
GeneMap99-GB4 RH Map12443.48UniSTS
RH46450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,416,771 - 116,416,891UniSTSGRCh37
Build 3612114,901,154 - 114,901,274RGDNCBI36
Celera12116,046,375 - 116,046,495RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,427,743 - 113,427,863UniSTS
SHGC-82396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,695,064 - 116,695,399UniSTSGRCh37
Build 3612115,179,447 - 115,179,782RGDNCBI36
Celera12116,324,649 - 116,324,984RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,706,783 - 113,707,118UniSTS
TNG Radiation Hybrid Map1256165.0UniSTS
G54241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,527,143 - 116,527,227UniSTSGRCh37
Build 3612115,011,526 - 115,011,610RGDNCBI36
Celera12116,156,746 - 116,156,830RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,538,536 - 113,538,620UniSTS
G54211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,652,475 - 116,652,685UniSTSGRCh37
Build 3612115,136,858 - 115,137,068RGDNCBI36
Celera12116,282,060 - 116,282,270RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,664,047 - 113,664,257UniSTS
RH120727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,505,986 - 116,506,314UniSTSGRCh37
Build 3612114,990,369 - 114,990,697RGDNCBI36
Celera12116,135,590 - 116,135,918RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,517,380 - 113,517,708UniSTS
TNG Radiation Hybrid Map1256079.0UniSTS
RH121588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,471,664 - 116,471,981UniSTSGRCh37
Build 3612114,956,047 - 114,956,364RGDNCBI36
Celera12116,101,268 - 116,101,585RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,483,052 - 113,483,369UniSTS
TNG Radiation Hybrid Map1256043.0UniSTS
RH122170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,476,047 - 116,476,395UniSTSGRCh37
Build 3612114,960,430 - 114,960,778RGDNCBI36
Celera12116,105,651 - 116,105,999RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,487,435 - 113,487,783UniSTS
TNG Radiation Hybrid Map1256043.0UniSTS
D12S1357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,647,837 - 116,647,948UniSTSGRCh37
Build 3612115,132,220 - 115,132,331RGDNCBI36
Celera12116,277,426 - 116,277,537RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,659,412 - 113,659,523UniSTS
G64563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,652,475 - 116,652,688UniSTSGRCh37
Build 3612115,136,858 - 115,137,071RGDNCBI36
Celera12116,282,060 - 116,282,273RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,664,047 - 113,664,260UniSTS
G64564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,587,320 - 116,587,522UniSTSGRCh37
Build 3612115,071,703 - 115,071,905RGDNCBI36
Celera12116,216,919 - 116,217,121RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,598,994 - 113,599,196UniSTS
SHGC-132816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,671,650 - 116,671,919UniSTSGRCh37
Build 3612115,156,033 - 115,156,302RGDNCBI36
Celera12116,301,235 - 116,301,504RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,683,222 - 113,683,491UniSTS
TNG Radiation Hybrid Map1256161.0UniSTS
RH1606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,397,655 - 116,397,928UniSTSGRCh37
Build 3612114,882,038 - 114,882,311RGDNCBI36
Celera12116,027,259 - 116,027,532RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,408,629 - 113,408,902UniSTS
GeneMap99-GB4 RH Map12455.81UniSTS
NCBI RH Map12724.9UniSTS
WI-16346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,476,025 - 116,476,154UniSTSGRCh37
Build 3612114,960,408 - 114,960,537RGDNCBI36
Celera12116,105,629 - 116,105,758RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,487,413 - 113,487,542UniSTS
GeneMap99-GB4 RH Map12443.85UniSTS
Whitehead-RH Map12569.2UniSTS
A009Z17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,476,144 - 116,476,243UniSTSGRCh37
Build 3612114,960,527 - 114,960,626RGDNCBI36
Celera12116,105,748 - 116,105,847RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,487,532 - 113,487,631UniSTS
GeneMap99-GB4 RH Map12447.95UniSTS
STS-Z40829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,397,837 - 116,397,927UniSTSGRCh37
Build 3612114,882,220 - 114,882,310RGDNCBI36
Celera12116,027,441 - 116,027,531RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,408,811 - 113,408,901UniSTS
GeneMap99-GB4 RH Map12457.48UniSTS
SHGC-52532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,671,816 - 116,671,953UniSTSGRCh37
Build 3612115,156,199 - 115,156,336RGDNCBI36
Celera12116,301,401 - 116,301,538RGD
Cytogenetic Map12q24.21UniSTS
HuRef12113,683,388 - 113,683,525UniSTS
GeneMap99-G3 RH Map124951.0UniSTS
A009F32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,500,463 - 116,500,576UniSTSGRCh37
Build 3612114,984,846 - 114,984,959RGDNCBI36
Celera12116,130,067 - 116,130,180RGD
HuRef12113,511,857 - 113,511,970UniSTS
GeneMap99-GB4 RH Map12454.24UniSTS
NCBI RH Map12724.1UniSTS
G33014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,476,144 - 116,476,243UniSTSGRCh37
Celera12116,105,748 - 116,105,847UniSTS
Cytogenetic Map12q24.21UniSTS
HuRef12113,487,532 - 113,487,631UniSTS
G34960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712116,500,463 - 116,500,576UniSTSGRCh37
Celera12116,130,067 - 116,130,180UniSTS
Cytogenetic Map12q24.21UniSTS
HuRef12113,511,857 - 113,511,970UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1977 1526 889 211 863 77 3950 1347 1376 250 1327 1560 146 1182 2407 2
Low 462 1460 837 413 1087 388 406 849 2357 169 133 53 29 1 22 381 4 2
Below cutoff 3 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC060226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF515599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY338463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281928   ⟹   ENSP00000281928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,958,576 - 116,277,693 (-)Ensembl
RefSeq Acc Id: ENST00000548694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,970,760 - 115,980,902 (-)Ensembl
RefSeq Acc Id: ENST00000548743   ⟹   ENSP00000448553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,991,680 - 116,276,759 (-)Ensembl
RefSeq Acc Id: ENST00000548784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,863 - 115,974,181 (-)Ensembl
RefSeq Acc Id: ENST00000549755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,006,807 - 116,009,145 (-)Ensembl
RefSeq Acc Id: ENST00000549786   ⟹   ENSP00000446782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,981,304 - 116,022,508 (-)Ensembl
RefSeq Acc Id: ENST00000551197   ⟹   ENSP00000497043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,109,620 - 116,277,081 (-)Ensembl
RefSeq Acc Id: ENST00000552023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,957,905 - 115,960,532 (-)Ensembl
RefSeq Acc Id: ENST00000552340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,980,481 - 115,982,590 (-)Ensembl
RefSeq Acc Id: ENST00000647567   ⟹   ENSP00000497136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,009,008 - 116,237,687 (-)Ensembl
RefSeq Acc Id: ENST00000647927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,995,521 - 116,000,172 (-)Ensembl
RefSeq Acc Id: ENST00000648067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,230,433 - 116,237,569 (-)Ensembl
RefSeq Acc Id: ENST00000648173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,991,696 - 116,007,444 (-)Ensembl
RefSeq Acc Id: ENST00000648379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,958,771 - 116,003,939 (-)Ensembl
RefSeq Acc Id: ENST00000648593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,230,533 - 116,237,569 (-)Ensembl
RefSeq Acc Id: ENST00000648737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,364 - 116,096,911 (-)Ensembl
RefSeq Acc Id: ENST00000648762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,958,600 - 115,967,158 (-)Ensembl
RefSeq Acc Id: ENST00000648825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,606 - 115,991,693 (-)Ensembl
RefSeq Acc Id: ENST00000648916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,961,190 - 116,006,348 (-)Ensembl
RefSeq Acc Id: ENST00000649146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,981,565 - 115,985,440 (-)Ensembl
RefSeq Acc Id: ENST00000649378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,978,327 - 115,981,304 (-)Ensembl
RefSeq Acc Id: ENST00000649607   ⟹   ENSP00000497064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,343 - 116,008,599 (-)Ensembl
RefSeq Acc Id: ENST00000649627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,230,433 - 116,237,569 (-)Ensembl
RefSeq Acc Id: ENST00000649655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,003,540 - 116,009,015 (-)Ensembl
RefSeq Acc Id: ENST00000649762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,007,460 - 116,010,972 (-)Ensembl
RefSeq Acc Id: ENST00000649775   ⟹   ENSP00000496984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,378 - 115,991,450 (-)Ensembl
RefSeq Acc Id: ENST00000649937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,616 - 115,963,549 (-)Ensembl
RefSeq Acc Id: ENST00000650091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,983,520 - 115,988,579 (-)Ensembl
RefSeq Acc Id: ENST00000650226   ⟹   ENSP00000496981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12115,959,261 - 116,277,174 (-)Ensembl
RefSeq Acc Id: ENST00000650375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,237,499 - 116,276,295 (-)Ensembl
RefSeq Acc Id: ENST00000650443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,003,498 - 116,007,665 (-)Ensembl
RefSeq Acc Id: ENST00000650496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12116,230,533 - 116,237,569 (-)Ensembl
RefSeq Acc Id: NM_015335   ⟹   NP_056150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,277,693 (-)NCBI
GRCh3712116,396,381 - 116,714,991 (-)RGD
Build 3612114,880,764 - 115,199,526 (-)NCBI Archive
Celera12116,025,985 - 116,344,576 (-)RGD
HuRef12113,407,355 - 113,687,093 (-)RGD
CHM1_112116,364,171 - 116,682,739 (-)NCBI
T2T-CHM13v2.012115,939,568 - 116,258,754 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019090   ⟹   XP_016874579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,277,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428605   ⟹   XP_047284561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,276,692 (-)NCBI
RefSeq Acc Id: XM_047428607   ⟹   XP_047284563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,276,692 (-)NCBI
RefSeq Acc Id: XM_047428608   ⟹   XP_047284564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,277,693 (-)NCBI
RefSeq Acc Id: XM_047428609   ⟹   XP_047284565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,250,024 (-)NCBI
RefSeq Acc Id: XM_047428610   ⟹   XP_047284566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,119,808 (-)NCBI
RefSeq Acc Id: XM_047428611   ⟹   XP_047284567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812115,958,576 - 116,119,808 (-)NCBI
RefSeq Acc Id: XM_054371572   ⟹   XP_054227547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,258,297 (-)NCBI
RefSeq Acc Id: XM_054371573   ⟹   XP_054227548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,258,004 (-)NCBI
RefSeq Acc Id: XM_054371574   ⟹   XP_054227549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,257,897 (-)NCBI
RefSeq Acc Id: XM_054371575   ⟹   XP_054227550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,258,297 (-)NCBI
RefSeq Acc Id: XM_054371576   ⟹   XP_054227551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,092,469 (-)NCBI
RefSeq Acc Id: XM_054371577   ⟹   XP_054227552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,227,440 (-)NCBI
RefSeq Acc Id: XM_054371578   ⟹   XP_054227553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012115,939,568 - 116,099,007 (-)NCBI
Protein Sequences
Protein RefSeqs NP_056150 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874579 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284561 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284563 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284564 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284565 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284566 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284567 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227547 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227553 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI30423 (Get FASTA)   NCBI Sequence Viewer  
  AAQ08182 (Get FASTA)   NCBI Sequence Viewer  
  AAR08418 (Get FASTA)   NCBI Sequence Viewer  
  BAA82977 (Get FASTA)   NCBI Sequence Viewer  
  BAB14697 (Get FASTA)   NCBI Sequence Viewer  
  BAB15103 (Get FASTA)   NCBI Sequence Viewer  
  CAB61363 (Get FASTA)   NCBI Sequence Viewer  
  CAB70855 (Get FASTA)   NCBI Sequence Viewer  
  CAH18186 (Get FASTA)   NCBI Sequence Viewer  
  EAW98081 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000281928
  ENSP00000281928.3
  ENSP00000446782.2
  ENSP00000448553.2
  ENSP00000496981.1
  ENSP00000496984.1
  ENSP00000497043.1
  ENSP00000497064.1
  ENSP00000497136.1
GenBank Protein Q71F56 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_056150   ⟸   NM_015335
- UniProtKB: Q9UFD8 (UniProtKB/Swiss-Prot),   Q9NSY9 (UniProtKB/Swiss-Prot),   Q9H8C0 (UniProtKB/Swiss-Prot),   Q68DN4 (UniProtKB/Swiss-Prot),   A1L469 (UniProtKB/Swiss-Prot),   Q9UPX5 (UniProtKB/Swiss-Prot),   Q71F56 (UniProtKB/Swiss-Prot),   A0A3B3IRX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874579   ⟸   XM_017019090
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IRX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000496984   ⟸   ENST00000649775
RefSeq Acc Id: ENSP00000497064   ⟸   ENST00000649607
RefSeq Acc Id: ENSP00000281928   ⟸   ENST00000281928
RefSeq Acc Id: ENSP00000496981   ⟸   ENST00000650226
RefSeq Acc Id: ENSP00000448553   ⟸   ENST00000548743
RefSeq Acc Id: ENSP00000446782   ⟸   ENST00000549786
RefSeq Acc Id: ENSP00000497043   ⟸   ENST00000551197
RefSeq Acc Id: ENSP00000497136   ⟸   ENST00000647567
RefSeq Acc Id: XP_047284564   ⟸   XM_047428608
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047284563   ⟸   XM_047428607
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284561   ⟸   XM_047428605
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284565   ⟸   XM_047428609
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047284566   ⟸   XM_047428610
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047284567   ⟸   XM_047428611
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227550   ⟸   XM_054371575
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227547   ⟸   XM_054371572
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227548   ⟸   XM_054371573
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227549   ⟸   XM_054371574
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227552   ⟸   XM_054371577
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227553   ⟸   XM_054371578
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227551   ⟸   XM_054371576
- Peptide Label: isoform X4
Protein Domains
Mediator complex subunit Med13 C-terminal   Mediator complex subunit Med13 N-terminal   MID

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q71F56-F1-model_v2 AlphaFold Q71F56 1-2210 view protein structure

Promoters
RGD ID:6790250
Promoter ID:HG_KWN:16759
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001TVW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612115,199,251 - 115,200,022 (-)MPROMDB
RGD ID:7225523
Promoter ID:EPDNEW_H18505
Type:initiation region
Name:MED13L_2
Description:mediator complex subunit 13 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812116,277,219 - 116,277,279EPDNEW
RGD ID:7225519
Promoter ID:EPDNEW_H18506
Type:initiation region
Name:MED13L_1
Description:mediator complex subunit 13 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18505  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812116,277,415 - 116,277,475EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22962 AgrOrtholog
COSMIC MED13L COSMIC
Ensembl Genes ENSG00000123066 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000281928 ENTREZGENE
  ENST00000281928.9 UniProtKB/Swiss-Prot
  ENST00000548743.2 UniProtKB/TrEMBL
  ENST00000549786.2 UniProtKB/TrEMBL
  ENST00000551197.2 UniProtKB/TrEMBL
  ENST00000647567.1 UniProtKB/TrEMBL
  ENST00000648737 ENTREZGENE
  ENST00000649607.1 UniProtKB/TrEMBL
  ENST00000649775.1 UniProtKB/TrEMBL
  ENST00000650226.1 UniProtKB/TrEMBL
GTEx ENSG00000123066 GTEx
HGNC ID HGNC:22962 ENTREZGENE
Human Proteome Map MED13L Human Proteome Map
InterPro Med13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mediator_Med13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MID_MedPIWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23389 UniProtKB/Swiss-Prot
NCBI Gene 23389 ENTREZGENE
OMIM 608771 OMIM
PANTHER MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION SUBUNIT 13-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Med13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Med13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MID_MedPIWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162395233 PharmGKB
UniProt A0A3B3IRS4_HUMAN UniProtKB/TrEMBL
  A0A3B3IRX3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS36_HUMAN UniProtKB/TrEMBL
  A0A3B3IS46_HUMAN UniProtKB/TrEMBL
  A0A3B3IS48_HUMAN UniProtKB/TrEMBL
  A1L469 ENTREZGENE
  F8VRB8_HUMAN UniProtKB/TrEMBL
  H0YHC1_HUMAN UniProtKB/TrEMBL
  MD13L_HUMAN UniProtKB/Swiss-Prot
  Q68DN4 ENTREZGENE
  Q71F56 ENTREZGENE
  Q9H8C0 ENTREZGENE
  Q9NSY9 ENTREZGENE
  Q9UFD8 ENTREZGENE
  Q9UPX5 ENTREZGENE
UniProt Secondary A1L469 UniProtKB/Swiss-Prot
  Q68DN4 UniProtKB/Swiss-Prot
  Q9H8C0 UniProtKB/Swiss-Prot
  Q9NSY9 UniProtKB/Swiss-Prot
  Q9UFD8 UniProtKB/Swiss-Prot
  Q9UPX5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-16 MED13L  mediator complex subunit 13L    mediator complex subunit 13 like  Symbol and/or name change 5135510 APPROVED
2016-03-14 MED13L  mediator complex subunit 13 like    mediator complex subunit 13-like  Symbol and/or name change 5135510 APPROVED