TCF4 (transcription factor 4) - Rat Genome Database

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Pathways
Gene: TCF4 (transcription factor 4) Homo sapiens
Analyze
Symbol: TCF4
Name: transcription factor 4
RGD ID: 732921
HGNC Page HGNC:11634
Description: Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; beta-catenin binding activity; and identical protein binding activity. Involved in positive regulation of DNA-templated transcription. Located in chromatin and nucleus. Part of beta-catenin-TCF7L2 complex. Implicated in Fuchs' endothelial dystrophy; Lynch syndrome; and Pitt-Hopkins syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bHLHb19; CDG2T; class B basic helix-loop-helix protein 19; E2-2; FCD2; FECD3; immunoglobulin transcription factor 2; ITF-2; ITF2; MGC149723; MGC149724; PTHS; SEF-2; SEF2; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; SL3-3 enhancer factor 2; TCF-4; transcription factor 4, isoform B+; transcription factor 4, isoform B-; transcription factor 4, isoform C; transcription factor 4, isoform D; transcription factor 4, isoform E; transcription factor 4, isoform L; transcription factor 4, isoform M; transcription factor 4, isoform R
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. TCF4 is a widely used alternative name for T-cell-specific transcription factor 4 (TCF7L2) conflicting with the official symbol for transcription factor 4 (TCF4). [08 Feb 2019]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381855,222,185 - 55,635,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1855,222,185 - 55,664,787 (-)Ensemblhg38GRCh38
GRCh371852,889,416 - 53,303,188 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361851,040,560 - 51,406,858 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341851,045,966 - 51,406,441NCBI
Celera1849,606,934 - 49,973,119 (-)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBIHuRef
CHM1_11852,884,825 - 53,298,977 (-)NCBICHM1_1
T2T-CHM13v2.01855,425,274 - 55,839,077 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
bosutinib  (EXP)
Butylbenzyl phthalate  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deguelin  (EXP)
Destruxin B  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (EXP,ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
elesclomol  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenpyroximate  (EXP)
fenthion  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
glycidol  (ISO)
glyphosate  (ISO)
hydroquinone  (EXP)
ketoconazole  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
NCX-4040  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
nitroglycerin  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP,ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sulindac  (EXP)
tamoxifen  (ISO)
tebufenpyrad  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
topotecan  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
undecane  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vitamin K  (ISO)
warfarin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal biliary tract morphology  (IAGP)
Abnormal corneal endothelium morphology  (IAGP)
Abnormal Descemet membrane morphology  (IAGP)
Abnormal eosinophil morphology  (IAGP)
Abnormal helix morphology  (IAGP)
Abnormal large intestine physiology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Absent speech  (IAGP)
Acrocyanosis  (IAGP)
Acute hepatic failure  (IAGP)
Adenocarcinoma of the large intestine  (IAGP)
Adult onset  (IAGP)
Aganglionic megacolon  (IAGP)
Aggressive behavior  (IAGP)
Amyloidosis  (IAGP)
Anteverted nares  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Ascites  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Broad fingertip  (IAGP)
Celiac disease  (IAGP)
Cerebral hypoplasia  (IAGP)
Childhood onset  (IAGP)
Cholangiocarcinoma  (IAGP)
Cholelithiasis  (IAGP)
Cholestasis  (IAGP)
Chronic hepatic failure  (IAGP)
Cirrhosis  (IAGP)
Clinodactyly  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal guttata  (IAGP)
Corneal opacity  (IAGP)
Corneal stromal edema  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased circulating vitamin E concentration  (IAGP)
Decreased circulating vitamin K concentration  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Depression  (IAGP)
Dilated superficial abdominal veins  (IAGP)
Drooling  (IAGP)
Echolalia  (IAGP)
Edema  (IAGP)
Elevated alkaline phosphatase of hepatic origin  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Encephalopathy  (IAGP)
Epicanthus  (IAGP)
Esophageal atresia  (IAGP)
Esophagitis  (IAGP)
Eye movement-induced pain  (IAGP)
Failure of eruption of permanent teeth  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal nuchal edema  (IAGP)
Fever  (IAGP)
Finger clinodactyly  (IAGP)
Flared nostrils  (IAGP)
Frontal upsweep of hair  (IAGP)
Full cheeks  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized amyotrophy  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Happy demeanor  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatitis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hiatus hernia  (IAGP)
Histiocytosis  (IAGP)
Hodgkin lymphoma  (IAGP)
Hyperconvex nail  (IAGP)
Hyperventilation  (IAGP)
Hypoalbuminemia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic hippocampus  (IAGP)
Hypotonia  (IAGP)
Incoordination  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Intermittent hyperventilation  (IAGP)
Jaundice  (IAGP)
Juvenile onset  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Narrow foot  (IAGP)
Narrow forehead  (IAGP)
Neoplasm of the gallbladder  (IAGP)
Nyctalopia  (IAGP)
Oculomotor apraxia  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overhanging nasal tip  (IAGP)
Overlapping toe  (IAGP)
Palmar telangiectasia  (IAGP)
Pancreatitis  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Pleural effusion  (IAGP)
Polyclonal elevation of IgM  (IAGP)
Portal hypertension  (IAGP)
Postnatal growth retardation  (IAGP)
Prolonged prothrombin time  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent nasal bridge  (IAGP)
Pruritus  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent systemic pyogenic infections  (IAGP)
Reduced circulating vitamin A concentration  (IAGP)
Reduced number of corneal endothelial cells  (IAGP)
Reduced visual acuity  (IAGP)
Renal insufficiency  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short fifth metatarsal  (IAGP)
Short fourth metatarsal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short philtrum  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Small cerebral cortex  (IAGP)
Small hand  (IAGP)
Sparse medial eyebrow  (IAGP)
Specific learning disability  (IAGP)
Spider hemangioma  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Tapered finger  (IAGP)
Thick vermilion border  (IAGP)
Thickened helices  (IAGP)
Thyroiditis  (IAGP)
Tooth malposition  (IAGP)
Triangular nasal tip  (IAGP)
Type I diabetes mellitus  (IAGP)
Ulcerative colitis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Uveitis  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
Weight loss  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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:1681116   PMID:2105528   PMID:2308860   PMID:8576241   PMID:8978694   PMID:8999959   PMID:9242638   PMID:9302263   PMID:9584154   PMID:9618760   PMID:9668116   PMID:9824680  
PMID:10757985   PMID:10903890   PMID:11266605   PMID:11591653   PMID:11756408   PMID:11784080   PMID:11802795   PMID:12477932   PMID:12651860   PMID:12727872   PMID:14517306   PMID:14702039  
PMID:15333839   PMID:15342556   PMID:15351717   PMID:15489334   PMID:15578569   PMID:15665104   PMID:15831457   PMID:16126178   PMID:16344560   PMID:16407974   PMID:16549780   PMID:17220880  
PMID:17318191   PMID:17410209   PMID:17436254   PMID:17436255   PMID:17478476   PMID:17983804   PMID:18222743   PMID:18371301   PMID:18627065   PMID:18635522   PMID:18781613   PMID:18792017  
PMID:18799618   PMID:18854153   PMID:19235238   PMID:19274049   PMID:19394332   PMID:19453261   PMID:19534813   PMID:19571808   PMID:19571811   PMID:19635457   PMID:19938247   PMID:20205897  
PMID:20211142   PMID:20301612   PMID:20379614   PMID:20421335   PMID:20585880   PMID:20603019   PMID:20603605   PMID:20673877   PMID:20811064   PMID:20825314   PMID:21037240   PMID:21103407  
PMID:21228604   PMID:21245398   PMID:21441570   PMID:21533127   PMID:21543597   PMID:21659310   PMID:21671075   PMID:21722264   PMID:21743491   PMID:21771727   PMID:21789225   PMID:21791550  
PMID:21812098   PMID:21828274   PMID:21873635   PMID:21880741   PMID:21900206   PMID:21926974   PMID:21988832   PMID:22014570   PMID:22045651   PMID:22146553   PMID:22156527   PMID:22234156  
PMID:22383159   PMID:22451930   PMID:22460224   PMID:22688191   PMID:22699938   PMID:22777675   PMID:22821403   PMID:22832956   PMID:22934316   PMID:22998502   PMID:23110055   PMID:23129290  
PMID:23165966   PMID:23185296   PMID:23249814   PMID:23449499   PMID:23453885   PMID:23563609   PMID:23671559   PMID:23758498   PMID:23772552   PMID:23894747   PMID:23974872   PMID:24027308  
PMID:24058414   PMID:24094747   PMID:24210665   PMID:24255041   PMID:24275585   PMID:24339136   PMID:24413739   PMID:24532795   PMID:24594265   PMID:24596249   PMID:24722188   PMID:24846398  
PMID:24862328   PMID:25001176   PMID:25056061   PMID:25150259   PMID:25168903   PMID:25217366   PMID:25298419   PMID:25299301   PMID:25342617   PMID:25355311   PMID:25402006   PMID:25416956  
PMID:25466284   PMID:25609649   PMID:25683913   PMID:25910212   PMID:25921289   PMID:26002199   PMID:26010163   PMID:26087656   PMID:26123998   PMID:26186194   PMID:26200491   PMID:26218914  
PMID:26280645   PMID:26343600   PMID:26401622   PMID:26451375   PMID:26593974   PMID:26622166   PMID:26687479   PMID:26871637   PMID:26884349   PMID:26972000   PMID:27103199   PMID:27121161  
PMID:27132474   PMID:27179618   PMID:27305091   PMID:27374225   PMID:27440233   PMID:27485769   PMID:27542264   PMID:27689884   PMID:27755191   PMID:27846392   PMID:28051067   PMID:28118661  
PMID:28341444   PMID:28473536   PMID:28514442   PMID:28574827   PMID:28608272   PMID:28631899   PMID:28790108   PMID:28807867   PMID:28832669   PMID:28886202   PMID:28921696   PMID:29033371  
PMID:29044056   PMID:29105523   PMID:29196769   PMID:29228394   PMID:29361949   PMID:29374067   PMID:29463646   PMID:29499938   PMID:29604340   PMID:29666142   PMID:29677349   PMID:29695756  
PMID:29739711   PMID:29892012   PMID:29901121   PMID:29905862   PMID:29966009   PMID:29987050   PMID:30021884   PMID:30098193   PMID:30288643   PMID:30315825   PMID:30322153   PMID:30450687  
PMID:30527807   PMID:30593567   PMID:30614797   PMID:30682148   PMID:30705426   PMID:30733599   PMID:30771755   PMID:30811544   PMID:30945288   PMID:30973406   PMID:30986748   PMID:31028223  
PMID:31081034   PMID:31209209   PMID:31261288   PMID:31276570   PMID:31288376   PMID:31340839   PMID:31515488   PMID:31535015   PMID:31540772   PMID:31554942   PMID:31558468   PMID:31666615  
PMID:31678554   PMID:31933004   PMID:32023836   PMID:32265994   PMID:32280673   PMID:32296183   PMID:32319632   PMID:32355234   PMID:32372448   PMID:32463444   PMID:32481733   PMID:32572909  
PMID:32735996   PMID:32802179   PMID:32814053   PMID:33054062   PMID:33069932   PMID:33116252   PMID:33122081   PMID:33174523   PMID:33371788   PMID:33414364   PMID:33462220   PMID:33782268  
PMID:33961781   PMID:34021255   PMID:34134113   PMID:34240166   PMID:34518368   PMID:34519126   PMID:34580284   PMID:34644448   PMID:34686186   PMID:34748727   PMID:34779502   PMID:34855896  
PMID:34946954   PMID:35013218   PMID:35140242   PMID:35154161   PMID:35189377   PMID:35278611   PMID:35322736   PMID:35373860   PMID:35501322   PMID:35604033   PMID:35900539   PMID:35908153  
PMID:36193501   PMID:36217029   PMID:36217030   PMID:36448207   PMID:36473865   PMID:36749823   PMID:37185280   PMID:37204786   PMID:37207277   PMID:37573005   PMID:37863330   PMID:38206443  
PMID:38360978   PMID:38470486   PMID:38571311   PMID:38654332   PMID:38704483   PMID:38713708   PMID:38847385   PMID:38884552   PMID:39243204   PMID:39823405  


Genomics

Comparative Map Data
TCF4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381855,222,185 - 55,635,957 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1855,222,185 - 55,664,787 (-)Ensemblhg38GRCh38
GRCh371852,889,416 - 53,303,188 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361851,040,560 - 51,406,858 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341851,045,966 - 51,406,441NCBI
Celera1849,606,934 - 49,973,119 (-)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBIHuRef
CHM1_11852,884,825 - 53,298,977 (-)NCBICHM1_1
T2T-CHM13v2.01855,425,274 - 55,839,077 (-)NCBIT2T-CHM13v2.0
Tcf4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391869,476,500 - 69,821,038 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1869,476,427 - 69,822,150 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381869,343,429 - 69,687,967 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1869,343,356 - 69,689,079 (+)Ensemblmm10GRCm38
MGSCv371869,504,146 - 69,847,621 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361869,469,890 - 69,809,713 (+)NCBIMGSCv36mm8
Celera1870,630,746 - 70,974,890 (+)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1843.23NCBI
Tcf4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81865,216,840 - 65,563,186 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1865,216,849 - 65,558,401 (+)EnsemblGRCr8
mRatBN7.21862,941,739 - 63,288,126 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1862,943,782 - 63,284,425 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1865,021,713 - 65,360,258 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01865,713,660 - 66,051,972 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01863,570,321 - 63,908,645 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01865,285,320 - 65,507,983 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1865,155,685 - 65,507,977 (+)Ensemblrn6Rnor6.0
Rnor_5.01864,471,373 - 64,694,036 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41866,135,863 - 66,359,984 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1861,145,273 - 61,368,542 (+)NCBICelera
RGSC_v3.11866,209,063 - 66,433,179 (+)NCBI
Cytogenetic Map18q12.1NCBI
Tcf4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540239,735,600 - 40,066,151 (-)Ensembl
ChiLan1.0NW_00495540239,735,596 - 40,066,151 (-)NCBIChiLan1.0ChiLan1.0
TCF4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21772,749,860 - 73,162,662 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11858,441,348 - 58,855,275 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01848,603,069 - 48,969,010 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11851,938,357 - 52,351,679 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1851,938,357 - 52,352,030 (-)EnsemblpanPan2panpan1.1
TCF4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1120,060,788 - 20,417,367 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl120,060,788 - 20,417,348 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha121,044,957 - 21,401,584 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0119,945,098 - 20,307,635 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl119,945,046 - 20,305,954 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1120,000,058 - 20,356,878 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0119,895,148 - 20,251,707 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0120,166,172 - 20,523,442 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Tcf4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494433,171,849 - 33,525,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364978,410,860 - 8,764,296 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364978,410,882 - 8,765,678 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCF4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1104,719,151 - 105,079,919 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11104,718,809 - 105,079,919 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21115,117,555 - 115,353,531 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TCF4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11824,116,595 - 24,483,037 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1824,116,547 - 24,478,228 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660601,054,633 - 1,421,014 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tcf4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624792686,774 - 1,027,397 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624792686,360 - 1,030,199 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in TCF4
1180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000018.10:g.(?_55228205)_(55635917_?)del deletion Pitt-Hopkins syndrome [RCV000544328] Chr18:55228205..55635917 [GRCh38]
Chr18:52895436..53303148 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1251C>T (p.Asp417=) single nucleotide variant Pitt-Hopkins syndrome [RCV000558983] Chr18:55254596 [GRCh38]
Chr18:52921827 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.790-4A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000542214] Chr18:55269967 [GRCh38]
Chr18:52937198 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1239dup (p.Gly414fs) duplication not provided [RCV000519948] Chr18:55254607..55254608 [GRCh38]
Chr18:52921838..52921839 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) single nucleotide variant Inborn genetic diseases [RCV001266245]|Pitt-Hopkins syndrome [RCV000007795]|Severe intellectual deficiency [RCV000415008]|not provided [RCV000387138] Chr18:55228988 [GRCh38]
Chr18:52896219 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV000007796]|not provided [RCV000189725] Chr18:55228987 [GRCh38]
Chr18:52896218 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000007797]|Pitt-Hopkins syndrome [RCV001249620]|not provided [RCV000255339] Chr18:55254694 [GRCh38]
Chr18:52921925 [GRCh37]
Chr18:18q21.2
pathogenic
TCF4, IVS9AS, G-C, -1 single nucleotide variant Pitt-Hopkins syndrome [RCV000007798] Chr18:18q21.2 pathogenic
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV000007799] Chr18:55228993 [GRCh38]
Chr18:52896224 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.908del (p.Thr303fs) deletion Pitt-Hopkins syndrome [RCV000007800] Chr18:55269845 [GRCh38]
Chr18:52937076 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001518888] Chr18:55350903 [GRCh38]
Chr18:53018134 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000546702] Chr18:55461114 [GRCh38]
Chr18:53128345 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.145+1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000519390] Chr18:55585279 [GRCh38]
Chr18:53252510 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.146A>G (p.Asn49Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001450291] Chr18:55464137 [GRCh38]
Chr18:53131368 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003617821]|not provided [RCV001696929] Chr18:55269851 [GRCh38]
Chr18:52937082 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.1(TCF4):c.145+4355A>G single nucleotide variant Lung cancer [RCV000100891] Chr18:55580925 [GRCh38]
Chr18:53248156 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1 copy number loss See cases [RCV000050961] Chr18:54291850..55754281 [GRCh38]
Chr18:51818220..53421512 [GRCh37]
Chr18:50072218..51572510 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2(chr18:55303869-55536679)x3 copy number gain See cases [RCV000052571] Chr18:55303869..55536679 [GRCh38]
Chr18:52971100..53203910 [GRCh37]
Chr18:51122098..51354908 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:54417453-57347792)x1 copy number loss See cases [RCV000053870] Chr18:54417453..57347792 [GRCh38]
Chr18:51943823..55015023 [GRCh37]
Chr18:50197821..53166021 [NCBI36]
Chr18:18q21.2-21.31
pathogenic
GRCh38/hg38 18q21.2(chr18:55339930-55500526)x1 copy number loss See cases [RCV000053871] Chr18:55339930..55500526 [GRCh38]
Chr18:53007161..53167757 [GRCh37]
Chr18:51158159..51318755 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1 copy number loss See cases [RCV000053872] Chr18:55575588..57207463 [GRCh38]
Chr18:53242819..54874694 [GRCh37]
Chr18:51393817..53025692 [NCBI36]
Chr18:18q21.2-21.31
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1 copy number loss See cases [RCV000053835] Chr18:51875428..55658999 [GRCh38]
Chr18:49401798..53326230 [GRCh37]
Chr18:47655796..51477228 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) deletion Pitt-Hopkins syndrome [RCV000660296] Chr18:55254678 [GRCh38]
Chr18:52921909 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs) microsatellite Pitt-Hopkins syndrome [RCV000660295] Chr18:55259950..55259951 [GRCh38]
Chr18:52927181..52927182 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV001507025]|not provided [RCV000494225] Chr18:55257375 [GRCh38]
Chr18:52924606 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) single nucleotide variant Inborn genetic diseases [RCV002313753]|Pitt-Hopkins syndrome [RCV000341338]|not provided [RCV003333955]|not specified [RCV000173028] Chr18:55234615 [GRCh38]
Chr18:52901846 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) single nucleotide variant Inborn genetic diseases [RCV002515762]|Microcephaly [RCV001003999]|Pitt-Hopkins syndrome [RCV000079458]|Pitt-Hopkins syndrome [RCV003883128]|TCF4-related disorder [RCV003398670]|not provided [RCV000189738] Chr18:55228993 [GRCh38]
Chr18:52896224 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) single nucleotide variant Inborn genetic diseases [RCV002313754]|Pitt-Hopkins syndrome [RCV000280945]|not provided [RCV000858710]|not specified [RCV000150096] Chr18:55228318 [GRCh38]
Chr18:52895549 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV001815179]|Inborn genetic diseases [RCV002311572]|Pitt-Hopkins syndrome [RCV000405030]|not provided [RCV000713808]|not specified [RCV000079460] Chr18:55228300 [GRCh38]
Chr18:55228300..55228301 [GRCh38]
Chr18:52895531 [GRCh37]
Chr18:52895531..52895532 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) microsatellite Intellectual disability [RCV000224701]|Neurodevelopmental disorder [RCV001374933]|Pitt-Hopkins syndrome [RCV000995665]|not provided [RCV000255366] Chr18:55350391..55350394 [GRCh38]
Chr18:53017622..53017625 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1147-17C>A single nucleotide variant Pitt-Hopkins syndrome [RCV002066799]|not specified [RCV000602833] Chr18:55254717 [GRCh38]
Chr18:52921948 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.922+1G>A single nucleotide variant not provided [RCV002292969] Chr18:55269830 [GRCh38]
Chr18:52937061 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1086del (p.Trp362fs) deletion Pitt-Hopkins syndrome [RCV001374737] Chr18:55257375 [GRCh38]
Chr18:52924606 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.208-8A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000274074]|not specified [RCV000186668] Chr18:55461123 [GRCh38]
Chr18:53128354 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_001083962.2(TCF4):c.305-14G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000270149]|not specified [RCV000128379] Chr18:55403532 [GRCh38]
Chr18:53070763 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.504A>G (p.Val168=) single nucleotide variant Inborn genetic diseases [RCV002316427]|Pitt-Hopkins syndrome [RCV001082033]|TCF4-related disorder [RCV003935209]|not provided [RCV000727317]|not specified [RCV000128380] Chr18:55350404 [GRCh38]
Chr18:53017635 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) single nucleotide variant Inborn genetic diseases [RCV002316428]|Pitt-Hopkins syndrome [RCV000358759]|not provided [RCV001725997]|not specified [RCV000128381] Chr18:55261520 [GRCh38]
Chr18:52928751 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) single nucleotide variant Inborn genetic diseases [RCV002381446]|Pitt-Hopkins syndrome [RCV000544388]|not provided [RCV001172125]|not specified [RCV000128382] Chr18:55261490 [GRCh38]
Chr18:52928721 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) single nucleotide variant Inborn genetic diseases [RCV002316917]|Pitt-Hopkins syndrome [RCV000537601]|not provided [RCV001701765]|not specified [RCV000128383] Chr18:55254548 [GRCh38]
Chr18:52921779 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1351-19G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002515920]|See cases [RCV003231159]|not provided [RCV002292475]|not specified [RCV000128384] Chr18:55234702 [GRCh38]
Chr18:52901933 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) single nucleotide variant Inborn genetic diseases [RCV002399506]|Pitt-Hopkins syndrome [RCV000525641]|not provided [RCV003221819]|not specified [RCV000128385] Chr18:55232607 [GRCh38]
Chr18:52899838 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1650-14C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002055838]|not provided [RCV003422019]|not specified [RCV000128386] Chr18:55229090 [GRCh38]
Chr18:52896321 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) single nucleotide variant Inborn genetic diseases [RCV002312953]|Pitt-Hopkins syndrome [RCV000338311]|not provided [RCV000713807]|not specified [RCV000128387] Chr18:55228336 [GRCh38]
Chr18:52895567 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1995G>A (p.Ser665=) single nucleotide variant Pitt-Hopkins syndrome [RCV000869521]|not specified [RCV000128389] Chr18:55228246 [GRCh38]
Chr18:52895477 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*5-10C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000348746]|Pitt-Hopkins syndrome [RCV002477340]|not provided [RCV004709340]|not specified [RCV000128390] Chr18:55228040 [GRCh38]
Chr18:52895271 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.1(TCF4):c.22G>A (p.Ala8Thr) single nucleotide variant not provided [RCV000128391] Chr18:55587095 [GRCh38]
Chr18:53254326 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.73-3T>C single nucleotide variant Inborn genetic diseases [RCV002316918]|Pitt-Hopkins syndrome [RCV000331537]|not provided [RCV003422020]|not specified [RCV000177114] Chr18:55585355 [GRCh38]
Chr18:53252586 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val) single nucleotide variant Pitt-Hopkins syndrome [RCV000190500] Chr18:55261488 [GRCh38]
Chr18:52928719 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001349104] Chr18:55234617 [GRCh38]
Chr18:52901848 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1357dup (p.Thr453fs) duplication not provided [RCV000153999] Chr18:55234676..55234677 [GRCh38]
Chr18:52901907..52901908 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1245T>C (p.His415=) single nucleotide variant Inborn genetic diseases [RCV002390426]|Pitt-Hopkins syndrome [RCV002517681]|TCF4-related disorder [RCV003895184]|not provided [RCV000724844]|not specified [RCV000174858] Chr18:55254602 [GRCh38]
Chr18:52921833 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.*4+30C>T single nucleotide variant not specified [RCV000147711] Chr18:55228191 [GRCh38]
Chr18:52895422 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1146+1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000147712] Chr18:55257314 [GRCh38]
Chr18:52924545 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV000147713] Chr18:55254497 [GRCh38]
Chr18:52921728 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000147715] Chr18:55232660 [GRCh38]
Chr18:52899891 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV000147716] Chr18:55228985 [GRCh38]
Chr18:52896216 [GRCh37]
Chr18:18q21.2
likely pathogenic|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del) deletion Pitt-Hopkins syndrome [RCV000147717] Chr18:55228947..55228949 [GRCh38]
Chr18:52896178..52896180 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV000147718] Chr18:55228886 [GRCh38]
Chr18:52896117 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala) single nucleotide variant Inborn genetic diseases [RCV002316954]|Pitt-Hopkins syndrome [RCV002515988]|not specified [RCV000147720] Chr18:55461100 [GRCh38]
Chr18:53128331 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.305-165C>T single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV001815203]|Pitt-Hopkins syndrome [RCV001815202]|not provided [RCV000834287]|not specified [RCV000147721] Chr18:55403683 [GRCh38]
Chr18:53070914 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.415del (p.Leu139fs) deletion Pitt-Hopkins syndrome [RCV000147722] Chr18:55350958 [GRCh38]
Chr18:53018189 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) single nucleotide variant Autism spectrum disorder [RCV003313939]|Pitt-Hopkins syndrome [RCV000147723]|not provided [RCV000484787] Chr18:55350904 [GRCh38]
Chr18:53018135 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.655+1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000147724] Chr18:55279550 [GRCh38]
Chr18:52946781 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.656-1G>C single nucleotide variant Pitt-Hopkins syndrome [RCV000147725] Chr18:55275753 [GRCh38]
Chr18:52942984 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.656-3C>T single nucleotide variant not specified [RCV000147726] Chr18:55275755 [GRCh38]
Chr18:52942986 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.789+23C>T single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV001815205]|Pitt-Hopkins syndrome [RCV001815204]|not provided [RCV000829619]|not specified [RCV000147727] Chr18:55275596 [GRCh38]
Chr18:55275596..55275597 [GRCh38]
Chr18:52942827 [GRCh37]
Chr18:52942827..52942828 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.791del (p.Ser264fs) deletion Pitt-Hopkins syndrome [RCV000147728] Chr18:55269962 [GRCh38]
Chr18:52937193 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) single nucleotide variant Inborn genetic diseases [RCV002316955]|Pitt-Hopkins syndrome [RCV001084639]|TCF4-related disorder [RCV003965112]|not provided [RCV000422948]|not specified [RCV000147729] Chr18:55261512 [GRCh38]
Chr18:52928743 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) single nucleotide variant Pitt-Hopkins syndrome [RCV000147730]|not provided [RCV000521305] Chr18:55261466 [GRCh38]
Chr18:52928697 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.991-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000147731] Chr18:55260029 [GRCh38]
Chr18:52927260 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2(chr18:55092114-55294739)x1 copy number loss See cases [RCV000134921] Chr18:55092114..55294739 [GRCh38]
Chr18:52759345..52961970 [GRCh37]
Chr18:50910343..51112968 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3 copy number gain See cases [RCV000135632] Chr18:54747628..55294739 [GRCh38]
Chr18:52414859..52961970 [GRCh37]
Chr18:50565857..51112968 [NCBI36]
Chr18:18q21.2
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1 copy number loss See cases [RCV000137301] Chr18:54468297..55949009 [GRCh38]
Chr18:51994667..53616240 [GRCh37]
Chr18:50248665..51767238 [NCBI36]
Chr18:18q21.2
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.*1A>G single nucleotide variant not provided [RCV000175407] Chr18:55228224 [GRCh38]
Chr18:52895455 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV001283846]|not provided [RCV000154000] Chr18:55275660 [GRCh38]
Chr18:52942891 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1414del (p.Val472fs) deletion not provided [RCV000153998] Chr18:55234620 [GRCh38]
Chr18:52901851 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.655+1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000767348]|not provided [RCV000154001] Chr18:55279550 [GRCh38]
Chr18:52946781 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) single nucleotide variant Inborn genetic diseases [RCV002312686]|Pitt-Hopkins syndrome [RCV001087507]|TCF4-related disorder [RCV004739481]|not provided [RCV000154002] Chr18:55403482 [GRCh38]
Chr18:53070713 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) single nucleotide variant Inborn genetic diseases [RCV002316975]|Pitt-Hopkins syndrome [RCV000332791]|not provided [RCV003884365]|not specified [RCV000154003] Chr18:55461054 [GRCh38]
Chr18:53128285 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000157067] Chr18:55234596 [GRCh38]
Chr18:52901827 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.726G>A (p.Leu242=) single nucleotide variant Pitt-Hopkins syndrome [RCV002054282]|not specified [RCV000192642] Chr18:55275682 [GRCh38]
Chr18:52942913 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.420G>A (p.Ser140=) single nucleotide variant Pitt-Hopkins syndrome [RCV001437135]|not specified [RCV000193197] Chr18:55350953 [GRCh38]
Chr18:53018184 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NG_011716.2:g.54765TGC[51_?] microsatellite Corneal dystrophy, Fuchs endothelial, 3 [RCV000186552] Chr18:18q21.2 pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) single nucleotide variant Inborn genetic diseases [RCV004965318]|Pitt-Hopkins syndrome [RCV000396501]|not provided [RCV000725215]|not specified [RCV000194093] Chr18:55234680 [GRCh38]
Chr18:52901911 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.*22G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000296119]|not specified [RCV000128391] Chr18:55228013 [GRCh38]
Chr18:52895244 [GRCh37]
Chr18:18q21.2
benign|likely benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs) indel Pitt-Hopkins syndrome [RCV000194458] Chr18:55261478 [GRCh38]
Chr18:52928709 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.655+1_655+2dup duplication Pitt-Hopkins syndrome [RCV000194246] Chr18:55279548..55279549 [GRCh38]
Chr18:52946779..52946780 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1069+1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000191133] Chr18:55259948 [GRCh38]
Chr18:52927179 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) duplication Pitt-Hopkins syndrome [RCV000192539] Chr18:55228275..55228276 [GRCh38]
Chr18:52895506..52895507 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV000193169] Chr18:55228855 [GRCh38]
Chr18:52896086 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000195129] Chr18:55234623 [GRCh38]
Chr18:52901854 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.-37C>T single nucleotide variant not specified [RCV000189709] Chr18:55588054 [GRCh38]
Chr18:53255285 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.-29G>A single nucleotide variant not specified [RCV000189710] Chr18:55588046 [GRCh38]
Chr18:53255277 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.370-14T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002054238]|not specified [RCV000189711] Chr18:55351017 [GRCh38]
Chr18:53018248 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1929G>C (p.Glu643Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV005089963]|not provided [RCV001705056] Chr18:55228312 [GRCh38]
Chr18:52895543 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV000560032]|not provided [RCV000189717] Chr18:55403518 [GRCh38]
Chr18:53070749 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.389A>G (p.Asp130Gly) single nucleotide variant not provided [RCV000189718] Chr18:55350984 [GRCh38]
Chr18:53018215 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.410G>A (p.Gly137Glu) single nucleotide variant not provided [RCV000189719] Chr18:55350963 [GRCh38]
Chr18:53018194 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) single nucleotide variant Inborn genetic diseases [RCV002314769]|Pitt-Hopkins syndrome [RCV002517021]|not specified [RCV000189720] Chr18:55350960 [GRCh38]
Chr18:53018191 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV002514072]|not provided [RCV000189721] Chr18:55350400 [GRCh38]
Chr18:53017631 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000645474]|not provided [RCV000189722] Chr18:55232588 [GRCh38]
Chr18:52899819 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1586C>T (p.Ser529Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV005089964]|not provided [RCV000189723] Chr18:55232572 [GRCh38]
Chr18:52899803 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.1(TCF4):c.1634C>G (p.Thr545Ser) single nucleotide variant not provided [RCV000189724] Chr18:55232524 [GRCh38]
Chr18:52899755 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.*5-1G>A single nucleotide variant not provided [RCV000189726] Chr18:55228031 [GRCh38]
Chr18:52895262 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.2012T>C (p.Met671Thr) single nucleotide variant not specified [RCV000189727] Chr18:55228229 [GRCh38]
Chr18:52895460 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.124A>G (p.Ser42Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001336173]|not provided [RCV000189728] Chr18:55585301 [GRCh38]
Chr18:53252532 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.516_517dup (p.Val173fs) duplication not provided [RCV000189729] Chr18:55350390..55350391 [GRCh38]
Chr18:53017621..53017622 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.680_682delinsT (p.Trp227fs) indel not provided [RCV000189730] Chr18:55275726..55275728 [GRCh38]
Chr18:52942957..52942959 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.733TCT[1] (p.Ser246del) microsatellite not specified [RCV000189731] Chr18:55275670..55275672 [GRCh38]
Chr18:52942901..52942903 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1505_1518del (p.Gln502fs) deletion not provided [RCV000189732] Chr18:55232640..55232653 [GRCh38]
Chr18:52899871..52899884 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1966_1969dup (p.Pro657fs) microsatellite not provided [RCV000189733] Chr18:55228271..55228272 [GRCh38]
Chr18:52895502..52895503 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs) deletion Pitt-Hopkins syndrome [RCV001507033]|not provided [RCV000189734] Chr18:55228230..55228231 [GRCh38]
Chr18:52895461..52895462 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1721A>G (p.Asn574Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV004784153]|TCF4-related disorder [RCV003393002] Chr18:55229005 [GRCh38]
Chr18:52896236 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.790-6C>A single nucleotide variant Pitt-Hopkins syndrome [RCV000552708] Chr18:55269969 [GRCh38]
Chr18:52937200 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) single nucleotide variant Inborn genetic diseases [RCV002311286]|Pitt-Hopkins syndrome [RCV000863834]|not provided [RCV005425789]|not specified [RCV000189713] Chr18:55229022 [GRCh38]
Chr18:52896253 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001312621]|not specified [RCV000189715] Chr18:55228251 [GRCh38]
Chr18:52895482 [GRCh37]
Chr18:18q21.2
benign|likely benign|uncertain significance
NM_001083962.1(TCF4):c.*4+2C>T single nucleotide variant not specified [RCV000189716] Chr18:55228219 [GRCh38]
Chr18:52895450 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) single nucleotide variant Inborn genetic diseases [RCV005286041]|Pitt-Hopkins syndrome [RCV001857661]|not provided [RCV001705057] Chr18:55279622 [GRCh38]
Chr18:52946853 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1316C>T (p.Thr439Ile) single nucleotide variant not specified [RCV000189736] Chr18:55254531 [GRCh38]
Chr18:52921762 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.550-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000198247]|not provided [RCV001781584] Chr18:55279658 [GRCh38]
Chr18:52946889 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000556133] Chr18:55232626 [GRCh38]
Chr18:52899857 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1486+2T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000768431] Chr18:55234546 [GRCh38]
Chr18:52901777 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.240G>A (p.Met80Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV001089294]|not provided [RCV000835152] Chr18:55461083 [GRCh38]
Chr18:53128314 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.507G>A (p.Gln169=) single nucleotide variant Pitt-Hopkins syndrome [RCV001450118] Chr18:55350401 [GRCh38]
Chr18:53017632 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) single nucleotide variant Pitt-Hopkins syndrome [RCV000209937]|not provided [RCV001753630] Chr18:55269903 [GRCh38]
Chr18:52937134 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1722T>C (p.Asn574=) single nucleotide variant Pitt-Hopkins syndrome [RCV000554718] Chr18:55229004 [GRCh38]
Chr18:52896235 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) single nucleotide variant Intellectual disability [RCV000224478]|Pitt-Hopkins syndrome [RCV000795184]|Pitt-Hopkins syndrome [RCV003224231]|not provided [RCV000760378] Chr18:55350388 [GRCh38]
Chr18:53017619 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1487-5G>A single nucleotide variant Inborn genetic diseases [RCV002390593]|Intellectual disability [RCV000224109]|Pitt-Hopkins syndrome [RCV000298499]|TCF4-related disorder [RCV003955294]|not provided [RCV000422255]|not specified [RCV000503349] Chr18:55232676 [GRCh38]
Chr18:52899907 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.790-9T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000309921]|TCF4-related disorder [RCV003947841]|not provided [RCV000713809]|not specified [RCV000405244] Chr18:55269972 [GRCh38]
Chr18:52937203 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18q21.2(chr18:52921652-52926903)x1 copy number loss See cases [RCV000239793] Chr18:52921652..52926903 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1317C>T (p.Thr439=) single nucleotide variant Pitt-Hopkins syndrome [RCV000867187]|not provided [RCV001719058] Chr18:55254530 [GRCh38]
Chr18:52921761 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.594G>A (p.Ser198=) single nucleotide variant Pitt-Hopkins syndrome [RCV001484572]|not provided [RCV000993287]|not specified [RCV000600117] Chr18:55279612 [GRCh38]
Chr18:52946843 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.72+8_72+11del microsatellite Pitt-Hopkins syndrome [RCV002525096]|not specified [RCV000517075] Chr18:55587034..55587037 [GRCh38]
Chr18:53254265..53254268 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
NM_001083962.2(TCF4):c.-125C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000282136]|not provided [RCV004717139] Chr18:55588142 [GRCh38]
Chr18:53255373 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*5240T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000300986] Chr18:55222795 [GRCh38]
Chr18:52890026 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*3982del deletion Pitt-Hopkins syndrome [RCV000265839] Chr18:55224053 [GRCh38]
Chr18:52891284 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*1761del deletion Pitt-Hopkins syndrome [RCV000288677] Chr18:55226274 [GRCh38]
Chr18:52893505 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*4352_*4353del deletion Pitt-Hopkins syndrome [RCV000273208] Chr18:55223682..55223683 [GRCh38]
Chr18:52890913..52890914 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*2010dup duplication Pitt-Hopkins syndrome [RCV000259881] Chr18:55226024..55226025 [GRCh38]
Chr18:52893255..52893256 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*5106T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000261417]|not provided [RCV004709857] Chr18:55222929 [GRCh38]
Chr18:52890160 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*4214GTTTTT[3] microsatellite Pitt-Hopkins syndrome [RCV000298320]|not provided [RCV003422295] Chr18:55223798..55223803 [GRCh38]
Chr18:52891029..52891034 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.*3868_*3870del deletion Pitt-Hopkins syndrome [RCV000269142] Chr18:55224165..55224167 [GRCh38]
Chr18:52891396..52891398 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) single nucleotide variant Pitt-Hopkins syndrome [RCV000271157]|not provided [RCV001706522] Chr18:55269937 [GRCh38]
Chr18:52937168 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.*5189_*5192del deletion Pitt-Hopkins syndrome [RCV000356264] Chr18:55222843..55222846 [GRCh38]
Chr18:52890074..52890077 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*785_*786dup duplication Pitt-Hopkins syndrome [RCV000261228] Chr18:55227248..55227249 [GRCh38]
Chr18:52894479..52894480 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*1903G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000321394]|not provided [RCV004709859] Chr18:55226132 [GRCh38]
Chr18:52893363 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*562C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000322085] Chr18:55227473 [GRCh38]
Chr18:52894704 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*2702_*2704del deletion Pitt-Hopkins syndrome [RCV000310029] Chr18:55225331..55225333 [GRCh38]
Chr18:52892562..52892564 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1471C>T (p.Gln491Ter) single nucleotide variant not provided [RCV000279608] Chr18:55234563 [GRCh38]
Chr18:52901794 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*1100T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000368123] Chr18:55226935 [GRCh38]
Chr18:52894166 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*2506G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000275179] Chr18:55225529 [GRCh38]
Chr18:52892760 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3397dup duplication Pitt-Hopkins syndrome [RCV000280858] Chr18:55224637..55224638 [GRCh38]
Chr18:52891868..52891869 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5553dup duplication Pitt-Hopkins syndrome [RCV000282991] Chr18:55222481..55222482 [GRCh38]
Chr18:52889712..52889713 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*2660A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000396601] Chr18:55225375 [GRCh38]
Chr18:52892606 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*3491C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000277435] Chr18:55224544 [GRCh38]
Chr18:52891775 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*3870del deletion Pitt-Hopkins syndrome [RCV000366190] Chr18:55224165 [GRCh38]
Chr18:52891396 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2553C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000367470] Chr18:55225482 [GRCh38]
Chr18:52892713 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*4324_*4325dup duplication Pitt-Hopkins syndrome [RCV000292282] Chr18:55223709..55223710 [GRCh38]
Chr18:52890940..52890941 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4325dup duplication Pitt-Hopkins syndrome [RCV000295663] Chr18:55223709..55223710 [GRCh38]
Chr18:52890940..52890941 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3269T>A single nucleotide variant Pitt-Hopkins syndrome [RCV000371518] Chr18:55224766 [GRCh38]
Chr18:52891997 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*909G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000397294] Chr18:55227126 [GRCh38]
Chr18:52894357 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*4061dup duplication Pitt-Hopkins syndrome [RCV000305820] Chr18:55223973..55223974 [GRCh38]
Chr18:52891204..52891205 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*1576T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000350682] Chr18:55226459 [GRCh38]
Chr18:52893690 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.655G>A (p.Asp219Asn) single nucleotide variant not provided [RCV000330180] Chr18:55279551 [GRCh38]
Chr18:52946782 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*3418dup duplication Pitt-Hopkins syndrome [RCV000329908] Chr18:55224616..55224617 [GRCh38]
Chr18:52891847..52891848 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*1889T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000378092] Chr18:55226146 [GRCh38]
Chr18:52893377 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001243230.2(TCF4):c.66G>A (p.Glu22=) single nucleotide variant Pitt-Hopkins syndrome [RCV000403146]|TCF4-related disorder [RCV003940302] Chr18:55588470 [GRCh38]
Chr18:53255701 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*1763C>A single nucleotide variant Pitt-Hopkins syndrome [RCV000403569]|not provided [RCV003422297] Chr18:55226272 [GRCh38]
Chr18:52893503 [GRCh37]
Chr18:18q21.2
benign|likely benign|uncertain significance
NM_001083962.2(TCF4):c.*1201C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000310995] Chr18:55226834 [GRCh38]
Chr18:52894065 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*451A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000291677] Chr18:55227584 [GRCh38]
Chr18:52894815 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*3404G>C single nucleotide variant Pitt-Hopkins syndrome [RCV000386770]|not provided [RCV003422296] Chr18:55224631 [GRCh38]
Chr18:52891862 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*53C>A single nucleotide variant Pitt-Hopkins syndrome [RCV000388095]|not provided [RCV001557635] Chr18:55227982 [GRCh38]
Chr18:52895213 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*3529T>A single nucleotide variant Pitt-Hopkins syndrome [RCV000388162] Chr18:55224506 [GRCh38]
Chr18:52891737 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4325_*4326insAT insertion Pitt-Hopkins syndrome [RCV000380762] Chr18:55223709..55223710 [GRCh38]
Chr18:52890940..52890941 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4088T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000334625]|not provided [RCV002263044] Chr18:55223947 [GRCh38]
Chr18:52891178 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*3349C>A single nucleotide variant Pitt-Hopkins syndrome [RCV000338234] Chr18:55224686 [GRCh38]
Chr18:52891917 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*4320_*4321insGAA insertion Pitt-Hopkins syndrome [RCV000338049] Chr18:55223714..55223715 [GRCh38]
Chr18:52890945..52890946 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1031del (p.Asn344fs) deletion not provided [RCV000374260] Chr18:55259987 [GRCh38]
Chr18:52927218 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*1339dup duplication Pitt-Hopkins syndrome [RCV000397291] Chr18:55226695..55226696 [GRCh38]
Chr18:52893926..52893927 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*549G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000383685]|not provided [RCV002263045] Chr18:55227486 [GRCh38]
Chr18:52894717 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*2857C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000340249] Chr18:55225178 [GRCh38]
Chr18:52892409 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*3058C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000341236] Chr18:55224977 [GRCh38]
Chr18:52892208 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*4319_*4320insGA insertion Pitt-Hopkins syndrome [RCV000394708] Chr18:55223715..55223716 [GRCh38]
Chr18:52890946..52890947 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*5019T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000297976] Chr18:55223016 [GRCh38]
Chr18:52890247 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*5299A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000397336]|not provided [RCV004709856] Chr18:55222736 [GRCh38]
Chr18:52889967 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*4549C>G single nucleotide variant Pitt-Hopkins syndrome [RCV000362018] Chr18:55223486 [GRCh38]
Chr18:52890717 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*4325A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000386655] Chr18:55223710 [GRCh38]
Chr18:52890941 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*726T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000264725] Chr18:55227309 [GRCh38]
Chr18:52894540 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*832G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000300604] Chr18:55227203 [GRCh38]
Chr18:52894434 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.990+12T>A single nucleotide variant Pitt-Hopkins syndrome [RCV000301665] Chr18:55261454 [GRCh38]
Chr18:52928685 [GRCh37]
Chr18:18q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.*2951A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000301740]|not provided [RCV004709858] Chr18:55225084 [GRCh38]
Chr18:52892315 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*5553del deletion Pitt-Hopkins syndrome [RCV000347298] Chr18:55222482 [GRCh38]
Chr18:52889713 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1799G>C single nucleotide variant Pitt-Hopkins syndrome [RCV000348130] Chr18:55226236 [GRCh38]
Chr18:52893467 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*2989GTT[2] microsatellite Pitt-Hopkins syndrome [RCV000402557] Chr18:55225038..55225040 [GRCh38]
Chr18:52892269..52892271 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1577C>A (p.Thr526Lys) single nucleotide variant Pitt-Hopkins syndrome [RCV000405270] Chr18:55232581 [GRCh38]
Chr18:52899812 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3116C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000279333] Chr18:55224919 [GRCh38]
Chr18:52892150 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2001G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000317830] Chr18:55226034 [GRCh38]
Chr18:52893265 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.687C>A (p.Ser229=) single nucleotide variant Pitt-Hopkins syndrome [RCV000362327]|not specified [RCV000435766] Chr18:55275721 [GRCh38]
Chr18:52942952 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*5503T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000405341] Chr18:55222532 [GRCh38]
Chr18:52889763 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*2413G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000318605] Chr18:55225622 [GRCh38]
Chr18:52892853 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.*2688A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000364142] Chr18:55225347 [GRCh38]
Chr18:52892578 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000389599]|not provided [RCV001553198] Chr18:55461111 [GRCh38]
Chr18:53128342 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4477A>C single nucleotide variant Pitt-Hopkins syndrome [RCV000267184] Chr18:55223558 [GRCh38]
Chr18:52890789 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*788G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000353147] Chr18:55227247 [GRCh38]
Chr18:52894478 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1650-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV004796226]|not provided [RCV000522685] Chr18:55229078 [GRCh38]
Chr18:52896309 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*178C>T single nucleotide variant not provided [RCV001269647] Chr18:55227857 [GRCh38]
Chr18:52895088 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.*1827C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000290861] Chr18:55226208 [GRCh38]
Chr18:52893439 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5411G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000344553] Chr18:55222624 [GRCh38]
Chr18:52889855 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*754G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000361683] Chr18:55227281 [GRCh38]
Chr18:52894512 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-474T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000303589] Chr18:55588491 [GRCh38]
Chr18:53255722 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2565T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000315179] Chr18:55225470 [GRCh38]
Chr18:52892701 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-160CGG[8] microsatellite Pitt-Hopkins syndrome [RCV000334978]|not provided [RCV003422298] Chr18:55588156..55588157 [GRCh38]
Chr18:53255387..53255388 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.*5319A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000368607] Chr18:55222716 [GRCh38]
Chr18:52889947 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4354_*4357del deletion Pitt-Hopkins syndrome [RCV000322317] Chr18:55223678..55223681 [GRCh38]
Chr18:52890909..52890912 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-272G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000286161] Chr18:55588289 [GRCh38]
Chr18:53255520 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3981_*3982del deletion Pitt-Hopkins syndrome [RCV000309172] Chr18:55224053..55224054 [GRCh38]
Chr18:52891284..52891285 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*786del deletion Pitt-Hopkins syndrome [RCV000323352] Chr18:55227249 [GRCh38]
Chr18:52894480 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1912A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000287350] Chr18:55226123 [GRCh38]
Chr18:52893354 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-248C>T single nucleotide variant Pitt-Hopkins syndrome [RCV000373227] Chr18:55588265 [GRCh38]
Chr18:53255496 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*356A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000325566] Chr18:55227679 [GRCh38]
Chr18:52894910 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-21+10G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000374382] Chr18:55588028 [GRCh38]
Chr18:53255259 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4338del deletion Pitt-Hopkins syndrome [RCV000326178] Chr18:55223697 [GRCh38]
Chr18:52890928 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2369TCC[2] microsatellite Pitt-Hopkins syndrome [RCV000356941] Chr18:55225658..55225660 [GRCh38]
Chr18:52892889..52892891 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4081_*4084del deletion Pitt-Hopkins syndrome [RCV000394721] Chr18:55223951..55223954 [GRCh38]
Chr18:52891182..52891185 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5418T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000289509] Chr18:55222617 [GRCh38]
Chr18:52889848 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3756A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000326491] Chr18:55224279 [GRCh38]
Chr18:52891510 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3982dup duplication Pitt-Hopkins syndrome [RCV000358199] Chr18:55224052..55224053 [GRCh38]
Chr18:52891283..52891284 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4353del deletion Pitt-Hopkins syndrome [RCV000376988] Chr18:55223682 [GRCh38]
Chr18:52890913 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-362A>C single nucleotide variant Pitt-Hopkins syndrome [RCV000343461] Chr18:55588379 [GRCh38]
Chr18:53255610 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2822G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000396605] Chr18:55225213 [GRCh38]
Chr18:52892444 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5392_*5393del deletion Pitt-Hopkins syndrome [RCV000397327] Chr18:55222642..55222643 [GRCh38]
Chr18:52889873..52889874 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.673del (p.Asp225fs) deletion Inborn genetic diseases [RCV000622476] Chr18:55275735 [GRCh38]
Chr18:52942966 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*5383T>C single nucleotide variant Pitt-Hopkins syndrome [RCV000313956] Chr18:55222652 [GRCh38]
Chr18:52889883 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1968TAT[1] microsatellite Pitt-Hopkins syndrome [RCV000379362] Chr18:55226062..55226064 [GRCh38]
Chr18:52893293..52893295 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) single nucleotide variant Inborn genetic diseases [RCV002413657]|Pitt-Hopkins syndrome [RCV000824831]|not provided [RCV000578535] Chr18:55229000 [GRCh38]
Chr18:52896231 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1726del (p.Arg576fs) deletion Pitt-Hopkins syndrome [RCV005252993]|not provided [RCV000599037] Chr18:55229000 [GRCh38]
Chr18:52896231 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1711del (p.Met571fs) deletion not provided [RCV000599183] Chr18:55229015 [GRCh38]
Chr18:52896246 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1265T>C (p.Ile422Thr) single nucleotide variant not provided [RCV000523950] Chr18:55254582 [GRCh38]
Chr18:52921813 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del) deletion Inborn genetic diseases [RCV000623938] Chr18:55228904..55228915 [GRCh38]
Chr18:52896135..52896146 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.1(TCF4):c.-511G>A single nucleotide variant not specified [RCV000414629] Chr18:55588528 [GRCh38]
Chr18:53255759 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.500-1G>A single nucleotide variant Epicanthus [RCV000414838]|Pitt-Hopkins syndrome [RCV001198319] Chr18:55350409 [GRCh38]
Chr18:53017640 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV004819232]|not provided [RCV000734429] Chr18:55228952 [GRCh38]
Chr18:52896183 [GRCh37]
Chr18:18q21.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs) duplication Global developmental delay [RCV000415111]|Pitt-Hopkins syndrome [RCV000856758] Chr18:55229003..55229004 [GRCh38]
Chr18:52896234..52896235 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV000534839] Chr18:55461081 [GRCh38]
Chr18:53128312 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) single nucleotide variant Inborn genetic diseases [RCV002365455]|Pitt-Hopkins syndrome [RCV003507275]|not specified [RCV000412751] Chr18:55275702 [GRCh38]
Chr18:52942933 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1037C>G (p.Ser346Ter) single nucleotide variant not provided [RCV000413573] Chr18:55259981 [GRCh38]
Chr18:52927212 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV000540855] Chr18:55269902 [GRCh38]
Chr18:52937133 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.2(chr18:53290008-53383013)x1 copy number loss not specified [RCV000447341] Chr18:53290008..53383013 [GRCh37]
Chr18:18q21.2
likely pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.807C>T (p.Ser269=) single nucleotide variant Pitt-Hopkins syndrome [RCV000866996]|not provided [RCV003422409]|not specified [RCV000431030] Chr18:55269946 [GRCh38]
Chr18:52937177 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.305-15C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001865333]|not specified [RCV000441294] Chr18:55403533 [GRCh38]
Chr18:53070764 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.594G>T (p.Ser198=) single nucleotide variant Pitt-Hopkins syndrome [RCV004797611]|not provided [RCV000726870]|not specified [RCV000444889] Chr18:55279612 [GRCh38]
Chr18:52946843 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.576C>T (p.Ala192=) single nucleotide variant Pitt-Hopkins syndrome [RCV001424252]|not provided [RCV001704355]|not specified [RCV001821191] Chr18:55279630 [GRCh38]
Chr18:52946861 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*5-18T>C single nucleotide variant not specified [RCV000420787] Chr18:55228048 [GRCh38]
Chr18:52895279 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) single nucleotide variant Pitt-Hopkins syndrome [RCV000864027]|TCF4-related disorder [RCV003922802]|not specified [RCV000434461] Chr18:55261511 [GRCh38]
Chr18:52928742 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1866G>A (p.Glu622=) single nucleotide variant Pitt-Hopkins syndrome [RCV001461197]|not provided [RCV001718881] Chr18:55228860 [GRCh38]
Chr18:52896091 [GRCh37]
Chr18:18q21.2
likely benign
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.1773C>T (p.Leu591=) single nucleotide variant not specified [RCV000421125] Chr18:55228953 [GRCh38]
Chr18:52896184 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1907G>A (p.Cys636Tyr) single nucleotide variant not provided [RCV000435178] Chr18:55228334 [GRCh38]
Chr18:52895565 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV001507045]|not provided [RCV000418798] Chr18:55228900 [GRCh38]
Chr18:52896131 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1587G>A (p.Ser529=) single nucleotide variant Pitt-Hopkins syndrome [RCV002059564]|not specified [RCV000424916] Chr18:55232571 [GRCh38]
Chr18:52899802 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1351-17T>A single nucleotide variant not specified [RCV000431990] Chr18:55234700 [GRCh38]
Chr18:52901931 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.369+12T>G single nucleotide variant Pitt-Hopkins syndrome [RCV002061540]|not specified [RCV000435781] Chr18:55403442 [GRCh38]
Chr18:53070673 [GRCh37]
Chr18:18q21.2
benign|likely benign
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
NM_001083962.2(TCF4):c.726G>T (p.Leu242Phe) single nucleotide variant not specified [RCV000422230] Chr18:55275682 [GRCh38]
Chr18:52942913 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+16C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002061539]|not specified [RCV000425997] Chr18:55464060 [GRCh38]
Chr18:53131291 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1879+13C>T single nucleotide variant Pitt-Hopkins syndrome [RCV005090873]|not specified [RCV000436270] Chr18:55228834 [GRCh38]
Chr18:52896065 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+13A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002061538]|not specified [RCV000443640] Chr18:55464063 [GRCh38]
Chr18:53131294 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.790-19T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002061541]|not specified [RCV000443772] Chr18:55269982 [GRCh38]
Chr18:52937213 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) single nucleotide variant Inborn genetic diseases [RCV000623167]|Pitt-Hopkins syndrome [RCV001507071]|TCF4-related disorder [RCV003422397]|not provided [RCV000431775] Chr18:55228999 [GRCh38]
Chr18:52896230 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1545C>T (p.Ser515=) single nucleotide variant Inborn genetic diseases [RCV002402129]|Pitt-Hopkins syndrome [RCV000867355]|TCF4-related disorder [RCV003972581]|not provided [RCV001703504] Chr18:55232613 [GRCh38]
Chr18:52899844 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.923-17G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002488909]|Pitt-Hopkins syndrome [RCV002519518]|not specified [RCV000440622] Chr18:55261550 [GRCh38]
Chr18:52928781 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) single nucleotide variant Pitt-Hopkins syndrome [RCV001413890]|TCF4-related disorder [RCV003902486]|not provided [RCV003409587]|not specified [RCV000437325] Chr18:55269862 [GRCh38]
Chr18:52937093 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1848C>T (p.Ala616=) single nucleotide variant Pitt-Hopkins syndrome [RCV001477752]|not specified [RCV000444488] Chr18:55228878 [GRCh38]
Chr18:52896109 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1308G>A (p.Gly436=) single nucleotide variant Pitt-Hopkins syndrome [RCV005090839]|not specified [RCV000423502] Chr18:55254539 [GRCh38]
Chr18:52921770 [GRCh37]
Chr18:18q21.2
likely benign
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) duplication Pitt-Hopkins syndrome [RCV000417112] Chr18:55257324..55257325 [GRCh38]
Chr18:52924555..52924556 [GRCh37]
Chr18:18q21.2
likely pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2(chr18:53214922-53346803)x1 copy number loss See cases [RCV000448209] Chr18:53214922..53346803 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
NM_001083962.2(TCF4):c.873C>G (p.Tyr291Ter) single nucleotide variant not provided [RCV000481651] Chr18:55269880 [GRCh38]
Chr18:52937111 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1553del (p.Glu518fs) deletion not provided [RCV000482160] Chr18:55232605 [GRCh38]
Chr18:52899836 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1716del (p.Asn573fs) deletion not provided [RCV000485949] Chr18:55229010 [GRCh38]
Chr18:52896241 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV003507281]|not provided [RCV000486556] Chr18:55279554 [GRCh38]
Chr18:52946785 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.990+13dup duplication not specified [RCV000482555] Chr18:55261452..55261453 [GRCh38]
Chr18:52928683..52928684 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1185T>C (p.Asp395=) single nucleotide variant Pitt-Hopkins syndrome [RCV001424709]|not provided [RCV001653864]|not specified [RCV000501013] Chr18:55254662 [GRCh38]
Chr18:52921893 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.330A>C (p.Ser110=) single nucleotide variant Inborn genetic diseases [RCV002316448]|Pitt-Hopkins syndrome [RCV000862407]|not provided [RCV001527903]|not specified [RCV000503478] Chr18:55403493 [GRCh38]
Chr18:53070724 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met) single nucleotide variant Pitt-Hopkins syndrome [RCV003617819]|not specified [RCV000503808] Chr18:55269863 [GRCh38]
Chr18:52937094 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1957_1958del (p.Ser653fs) microsatellite Pitt-Hopkins syndrome [RCV000496195] Chr18:55228283..55228284 [GRCh38]
Chr18:52895514..52895515 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV000500332]|not provided [RCV000498335] Chr18:55275649 [GRCh38]
Chr18:52942880 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1069+1G>A single nucleotide variant not provided [RCV000523240] Chr18:55259948 [GRCh38]
Chr18:52927179 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) single nucleotide variant Pitt-Hopkins syndrome [RCV000501849] Chr18:55228966 [GRCh38]
Chr18:52896197 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1834del (p.His612fs) deletion Pitt-Hopkins syndrome [RCV000499729] Chr18:55228892 [GRCh38]
Chr18:52896123 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.642C>T (p.Ser214=) single nucleotide variant not specified [RCV000500022] Chr18:55279564 [GRCh38]
Chr18:52946795 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1358C>T (p.Thr453Ile) single nucleotide variant not specified [RCV000500298] Chr18:55234676 [GRCh38]
Chr18:52901907 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=) single nucleotide variant Pitt-Hopkins syndrome [RCV000645482]|not specified [RCV000503083] Chr18:55257348 [GRCh38]
Chr18:52924579 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_001083962.2(TCF4):c.986_990+3del deletion not provided [RCV000493896] Chr18:55261463..55261470 [GRCh38]
Chr18:52928694..52928701 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18q21.2(chr18:53280664-53428347)x1 copy number loss See cases [RCV000511379] Chr18:53280664..53428347 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) single nucleotide variant Inborn genetic diseases [RCV003159600]|Pitt-Hopkins syndrome [RCV000660298]|not provided [RCV000493014] Chr18:55228850 [GRCh38]
Chr18:52896081 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000697776]|not provided [RCV002291691] Chr18:55461043 [GRCh38]
Chr18:53128274 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.991-6T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000797687]|not provided [RCV000523429] Chr18:55260033 [GRCh38]
Chr18:52927264 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.1504del (p.Gln502fs) deletion Pitt-Hopkins syndrome [RCV000524725] Chr18:55232654 [GRCh38]
Chr18:52899885 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val) single nucleotide variant Pitt-Hopkins syndrome [RCV000645476] Chr18:55279563 [GRCh38]
Chr18:52946794 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.201G>A (p.Pro67=) single nucleotide variant Pitt-Hopkins syndrome [RCV000645479]|not provided [RCV000827338] Chr18:55464082 [GRCh38]
Chr18:53131313 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.738T>C (p.Ser246=) single nucleotide variant Pitt-Hopkins syndrome [RCV000527456] Chr18:55275670 [GRCh38]
Chr18:52942901 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) single nucleotide variant Esophageal atresia [RCV000984688]|Pitt-Hopkins syndrome [RCV000533793] Chr18:55403486 [GRCh38]
Chr18:53070717 [GRCh37]
Chr18:18q21.2
pathogenic|likely benign|uncertain significance
NM_001083962.2(TCF4):c.1026A>G (p.Ser342=) single nucleotide variant not provided [RCV003312416] Chr18:55259992 [GRCh38]
Chr18:52927223 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter) single nucleotide variant Inborn genetic diseases [RCV000623798] Chr18:55275728 [GRCh38]
Chr18:52942959 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003618069]|not provided [RCV003327987] Chr18:55585342 [GRCh38]
Chr18:53252573 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC indel Pitt-Hopkins syndrome [RCV000656529] Chr18:55269829..55269834 [GRCh38]
Chr18:52937060..52937065 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.-21+18C>T single nucleotide variant not specified [RCV000606821] Chr18:55588020 [GRCh38]
Chr18:53255251 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1486+2T>C single nucleotide variant Inborn genetic diseases [RCV000624700] Chr18:55234546 [GRCh38]
Chr18:52901777 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter) single nucleotide variant Inborn genetic diseases [RCV000624046] Chr18:55254543 [GRCh38]
Chr18:52921774 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1887T>C (p.Asn629=) single nucleotide variant Pitt-Hopkins syndrome [RCV001491082]|not specified [RCV000612498] Chr18:55228354 [GRCh38]
Chr18:52895585 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1677A>G (p.Pro559=) single nucleotide variant Pitt-Hopkins syndrome [RCV000540358] Chr18:55229049 [GRCh38]
Chr18:52896280 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) single nucleotide variant Pitt-Hopkins syndrome [RCV002066601]|not provided [RCV001698457]|not specified [RCV000615986] Chr18:55232581 [GRCh38]
Chr18:52899812 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1557del (p.Asp520fs) deletion Pitt-Hopkins syndrome [RCV000541444] Chr18:55232601 [GRCh38]
Chr18:52899832 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs) deletion Inborn genetic diseases [RCV000622282] Chr18:55254579..55254580 [GRCh38]
Chr18:52921810..52921811 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.500-18A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002065311]|not specified [RCV000616548] Chr18:55350426 [GRCh38]
Chr18:53017657 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.-21+12C>T single nucleotide variant not specified [RCV000607951] Chr18:55588026 [GRCh38]
Chr18:53255257 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1650-18A>T single nucleotide variant not specified [RCV000613673] Chr18:55229094 [GRCh38]
Chr18:52896325 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1817_1828del (p.Thr606_Leu609del) deletion Pitt-Hopkins syndrome [RCV000655944] Chr18:55228898..55228909 [GRCh38]
Chr18:52896129..52896140 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000531683]|Pitt-Hopkins syndrome [RCV002476174] Chr18:55228251 [GRCh38]
Chr18:52895482 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV000533303] Chr18:55228895 [GRCh38]
Chr18:52896126 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1965C>T (p.Ala655=) single nucleotide variant Pitt-Hopkins syndrome [RCV000645478]|not provided [RCV001704744] Chr18:55228276 [GRCh38]
Chr18:52895507 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.655+4A>T single nucleotide variant Pitt-Hopkins syndrome [RCV000534710] Chr18:55279547 [GRCh38]
Chr18:52946778 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV000535942] Chr18:55234565 [GRCh38]
Chr18:52901796 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.146-11C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002065348]|not specified [RCV000607261] Chr18:55464148 [GRCh38]
Chr18:53131379 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1486+4G>C single nucleotide variant Inborn genetic diseases [RCV002311960]|Pitt-Hopkins syndrome [RCV000936285]|not specified [RCV000603538] Chr18:55234544 [GRCh38]
Chr18:52901775 [GRCh37]
Chr18:18q21.2
benign|likely benign|uncertain significance
NM_001083962.2(TCF4):c.-21+20G>A single nucleotide variant not specified [RCV000602077] Chr18:55588018 [GRCh38]
Chr18:53255249 [GRCh37]
Chr18:18q21.2
likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
NM_001083962.2(TCF4):c.216A>C (p.Gly72=) single nucleotide variant Pitt-Hopkins syndrome [RCV000871169]|TCF4-related disorder [RCV004740367]|not specified [RCV000605663] Chr18:55461107 [GRCh38]
Chr18:53128338 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.913_920del (p.Ser305fs) deletion not provided [RCV000656305] Chr18:55269833..55269840 [GRCh38]
Chr18:52937064..52937071 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.922+15T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002529410]|not specified [RCV000600079] Chr18:55269816 [GRCh38]
Chr18:52937047 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.2000A>G (p.His667Arg) single nucleotide variant not provided [RCV000513060] Chr18:55228241 [GRCh38]
Chr18:52895472 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001522872]|not provided [RCV000645475] Chr18:55254529 [GRCh38]
Chr18:52921760 [GRCh37]
Chr18:18q21.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000645477]|Pitt-Hopkins syndrome [RCV005027764] Chr18:55464101 [GRCh38]
Chr18:53131332 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1032C>T (p.Asn344=) single nucleotide variant Inborn genetic diseases [RCV002388102]|Pitt-Hopkins syndrome [RCV001088331]|not provided [RCV000827426] Chr18:55259986 [GRCh38]
Chr18:52927217 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001516787] Chr18:55279635 [GRCh38]
Chr18:52946866 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro) indel Inborn genetic diseases [RCV000622407] Chr18:55228950..55228954 [GRCh38]
Chr18:52896181..52896185 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter) single nucleotide variant Inborn genetic diseases [RCV000623010] Chr18:55261525 [GRCh38]
Chr18:52928756 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs) deletion Pitt-Hopkins syndrome [RCV001507066]|not provided [RCV000627504] Chr18:55228324..55228325 [GRCh38]
Chr18:52895555..52895556 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1440G>C (p.Gln480His) single nucleotide variant not provided [RCV000658275] Chr18:55234594 [GRCh38]
Chr18:52901825 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1489A>G (p.Met497Val) single nucleotide variant not provided [RCV000657860] Chr18:55232669 [GRCh38]
Chr18:52899900 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter) insertion Pitt-Hopkins syndrome [RCV000660297] Chr18:55232645..55232646 [GRCh38]
Chr18:52899876..52899877 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV000662185]|Pitt-Hopkins syndrome [RCV000662184] Chr18:55275623 [GRCh38]
Chr18:52942854 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.549+1G>T single nucleotide variant not provided [RCV000658808] Chr18:55350358 [GRCh38]
Chr18:53017589 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer) deletion Pitt-Hopkins syndrome [RCV000681655] Chr18:55275712 [GRCh38]
Chr18:52942943 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1034del (p.Pro345fs) deletion Pitt-Hopkins syndrome [RCV000680119] Chr18:55259984 [GRCh38]
Chr18:52927215 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.937_941del (p.Gly313fs) deletion Pitt-Hopkins syndrome [RCV000680121] Chr18:55261515..55261519 [GRCh38]
Chr18:52928746..52928750 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) single nucleotide variant Inborn genetic diseases [RCV002314372]|Pitt-Hopkins syndrome [RCV000870232]|not provided [RCV001597208] Chr18:55279567 [GRCh38]
Chr18:52946798 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1292del (p.Gly431fs) deletion Pitt-Hopkins syndrome [RCV000680120] Chr18:55254555 [GRCh38]
Chr18:52921786 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_001083962.2(TCF4):c.1619A>T (p.Asp540Val) single nucleotide variant Pitt-Hopkins syndrome [RCV000678972] Chr18:55232539 [GRCh38]
Chr18:52899770 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV000678346] Chr18:55228877 [GRCh38]
Chr18:52896108 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.-21+2T>A single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV000678340]|not provided [RCV001766455] Chr18:55588036 [GRCh38]
Chr18:53255267 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:53011022-53131802)x1 copy number loss not provided [RCV000683976] Chr18:53011022..53131802 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs) microsatellite Pitt-Hopkins syndrome [RCV000684922] Chr18:55275665..55275666 [GRCh38]
Chr18:52942896..52942897 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1146+3A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000685198] Chr18:55257312 [GRCh38]
Chr18:52924543 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000699856]|TCF4-related disorder [RCV003983172] Chr18:55260023 [GRCh38]
Chr18:52927254 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV000704202] Chr18:55254558 [GRCh38]
Chr18:52921789 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup) duplication Pitt-Hopkins syndrome [RCV000690939] Chr18:55279595..55279596 [GRCh38]
Chr18:52946826..52946827 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-3T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000700153] Chr18:55464140 [GRCh38]
Chr18:53131371 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000700659] Chr18:55232606 [GRCh38]
Chr18:52899837 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV000692498]|not provided [RCV001766486] Chr18:55269914 [GRCh38]
Chr18:52937145 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.740dup (p.His247fs) duplication Pitt-Hopkins syndrome [RCV000689642] Chr18:55275667..55275668 [GRCh38]
Chr18:52942898..52942899 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.290A>G (p.Asn97Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000695717] Chr18:55461033 [GRCh38]
Chr18:53128264 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) single nucleotide variant Inborn genetic diseases [RCV002315997]|Pitt-Hopkins syndrome [RCV000696327]|not provided [RCV001255114] Chr18:55254564 [GRCh38]
Chr18:52921795 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) single nucleotide variant Pitt-Hopkins syndrome [RCV000705624]|not provided [RCV001561077] Chr18:55228885 [GRCh38]
Chr18:52896116 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1650-9G>T single nucleotide variant Pitt-Hopkins syndrome [RCV000700487] Chr18:55229085 [GRCh38]
Chr18:52896316 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1527del (p.Ser510fs) deletion Pitt-Hopkins syndrome [RCV000696955]|not provided [RCV004723092] Chr18:55232631 [GRCh38]
Chr18:52899862 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.469del (p.Arg157fs) deletion Inborn genetic diseases [RCV002318690]|Pitt-Hopkins syndrome [RCV000990105]|not provided [RCV000734489] Chr18:55350904 [GRCh38]
Chr18:53018135 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1683G>A (p.Gln561=) single nucleotide variant Inborn genetic diseases [RCV002317962] Chr18:55229043 [GRCh38]
Chr18:52896274 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg) single nucleotide variant Inborn genetic diseases [RCV002317525]|Pitt-Hopkins syndrome [RCV001862073] Chr18:55232560 [GRCh38]
Chr18:52899791 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu) single nucleotide variant Inborn genetic diseases [RCV002318309]|Pitt-Hopkins syndrome [RCV001237542]|not provided [RCV001759439] Chr18:55279557 [GRCh38]
Chr18:52946788 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2(chr18:53234540-53237513)x3 copy number gain not provided [RCV000739826] Chr18:53234540..53237513 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCTCA insertion not provided [RCV001544778] Chr18:55463977..55463978 [GRCh38]
Chr18:53131208..53131209 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1069+122T>A single nucleotide variant not provided [RCV001585054] Chr18:55259827 [GRCh38]
Chr18:52927058 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.990+2T>C single nucleotide variant not provided [RCV001543482] Chr18:55261464 [GRCh38]
Chr18:52928695 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.207+98CA[14] microsatellite not provided [RCV001534870] Chr18:55463949..55463950 [GRCh38]
Chr18:53131180..53131181 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1011T>A (p.Thr337=) single nucleotide variant Pitt-Hopkins syndrome [RCV002540908] Chr18:55260007 [GRCh38]
Chr18:52927238 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.8A>G (p.His3Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV003771680]|not provided [RCV001547548] Chr18:55587109 [GRCh38]
Chr18:53254340 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.975dup (p.Lys326fs) duplication Pitt-Hopkins syndrome [RCV003314292] Chr18:55261480..55261481 [GRCh38]
Chr18:52928711..52928712 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp) single nucleotide variant Pitt-Hopkins syndrome [RCV000760226]|Pitt-Hopkins syndrome [RCV001855923] Chr18:55229021 [GRCh38]
Chr18:52896252 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1146+2T>C single nucleotide variant Hereditary spastic paraplegia 4 [RCV003314498] Chr18:55257313 [GRCh38]
Chr18:52924544 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.790-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000990103] Chr18:55269965 [GRCh38]
Chr18:52937196 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.990+12T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002073240]|not provided [RCV001693518] Chr18:55261454 [GRCh38]
Chr18:52928685 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.922+3G>T single nucleotide variant Pitt-Hopkins syndrome [RCV003225973]|not provided [RCV001570290] Chr18:55269828 [GRCh38]
Chr18:52937059 [GRCh37]
Chr18:18q21.2
likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.790-6C>G single nucleotide variant Pitt-Hopkins syndrome [RCV001045391] Chr18:55269969 [GRCh38]
Chr18:52937200 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2(chr18:53269093-53321026)x1 copy number loss See cases [RCV001007442] Chr18:53269093..53321026 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.858T>C (p.Ser286=) single nucleotide variant Pitt-Hopkins syndrome [RCV001469358] Chr18:55269895 [GRCh38]
Chr18:52937126 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.465T>C (p.Asn155=) single nucleotide variant Pitt-Hopkins syndrome [RCV001424334] Chr18:55350908 [GRCh38]
Chr18:53018139 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.456T>C (p.Ser152=) single nucleotide variant Pitt-Hopkins syndrome [RCV000951182] Chr18:55350917 [GRCh38]
Chr18:53018148 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1486+6T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002064496]|not provided [RCV000864592] Chr18:55234542 [GRCh38]
Chr18:52901773 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1395T>C (p.His465=) single nucleotide variant not provided [RCV000901762] Chr18:55234639 [GRCh38]
Chr18:52901870 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1089T>C (p.Ser363=) single nucleotide variant Pitt-Hopkins syndrome [RCV001476494] Chr18:55257372 [GRCh38]
Chr18:52924603 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.41A>T (p.Lys14Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV001471145] Chr18:55587076 [GRCh38]
Chr18:53254307 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001061647] Chr18:55403501 [GRCh38]
Chr18:53070732 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV001049733] Chr18:55275713 [GRCh38]
Chr18:52942944 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:53061085-53143573)x1 copy number loss not provided [RCV001006982] Chr18:53061085..53143573 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000995664] Chr18:55269958 [GRCh38]
Chr18:52937189 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV001034080] Chr18:55232564 [GRCh38]
Chr18:52899795 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.369+6_369+7del deletion Pitt-Hopkins syndrome [RCV001048813] Chr18:55403447..55403448 [GRCh38]
Chr18:53070678..53070679 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.869A>G (p.His290Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001060583] Chr18:55269884 [GRCh38]
Chr18:52937115 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.789+7C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001057676] Chr18:55275612 [GRCh38]
Chr18:52942843 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.550-1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV000801759] Chr18:55279657 [GRCh38]
Chr18:52946888 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1218C>T (p.Gly406=) single nucleotide variant Pitt-Hopkins syndrome [RCV001467961] Chr18:55254629 [GRCh38]
Chr18:52921860 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.660C>T (p.Gly220=) single nucleotide variant Inborn genetic diseases [RCV002363247]|Pitt-Hopkins syndrome [RCV000868640]|TCF4-related disorder [RCV003895289] Chr18:55275748 [GRCh38]
Chr18:52942979 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000857224] Chr18:55259951 [GRCh38]
Chr18:52927182 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1174A>C (p.Arg392=) single nucleotide variant Pitt-Hopkins syndrome [RCV000940678] Chr18:55254673 [GRCh38]
Chr18:52921904 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.84T>C (p.Pro28=) single nucleotide variant Pitt-Hopkins syndrome [RCV001483426] Chr18:55585341 [GRCh38]
Chr18:53252572 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1383G>A (p.Leu461=) single nucleotide variant Pitt-Hopkins syndrome [RCV001453328] Chr18:55234651 [GRCh38]
Chr18:52901882 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1194T>C (p.His398=) single nucleotide variant Pitt-Hopkins syndrome [RCV000868556] Chr18:55254653 [GRCh38]
Chr18:52921884 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1650-323C>A single nucleotide variant not provided [RCV000827594] Chr18:55229399 [GRCh38]
Chr18:52896630 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) single nucleotide variant Inborn genetic diseases [RCV002336717]|Pitt-Hopkins syndrome [RCV000822946]|not provided [RCV001561690] Chr18:55350907 [GRCh38]
Chr18:53018138 [GRCh37]
Chr18:18q21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV000822967] Chr18:55461045 [GRCh38]
Chr18:53128276 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5-62A>G single nucleotide variant not provided [RCV000832480] Chr18:55228092 [GRCh38]
Chr18:52895323 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-46693C>T single nucleotide variant not provided [RCV000834284] Chr18:55510830 [GRCh38]
Chr18:53178061 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.146-46406C>G single nucleotide variant not provided [RCV000834285] Chr18:55510543 [GRCh38]
Chr18:53177774 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000824850] Chr18:55229016 [GRCh38]
Chr18:52896247 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.146-46372T>A single nucleotide variant not provided [RCV000834286] Chr18:55510509 [GRCh38]
Chr18:53177740 [GRCh37]
Chr18:18q21.2
benign
NM_001243230.2(TCF4):c.13A>G (p.Lys5Glu) single nucleotide variant not provided [RCV000993285] Chr18:55588523 [GRCh38]
Chr18:53255754 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1419G>T (p.Pro473=) single nucleotide variant Pitt-Hopkins syndrome [RCV001489963]|not provided [RCV000993286] Chr18:55234615 [GRCh38]
Chr18:52901846 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His) single nucleotide variant Pitt-Hopkins syndrome [RCV000807995] Chr18:55275648 [GRCh38]
Chr18:52942879 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.790-192C>G single nucleotide variant not provided [RCV000836452] Chr18:55270155 [GRCh38]
Chr18:52937386 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.990+179_990+182dup duplication not provided [RCV000836453] Chr18:55261283..55261284 [GRCh38]
Chr18:52928514..52928515 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.923-224C>T single nucleotide variant not provided [RCV000836478] Chr18:55261757 [GRCh38]
Chr18:52928988 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.500-88G>A single nucleotide variant not provided [RCV000829982] Chr18:55350496 [GRCh38]
Chr18:53017727 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1351-84_1351-81dup duplication not provided [RCV000829983] Chr18:55234763..55234764 [GRCh38]
Chr18:52901994..52901995 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1879+78T>C single nucleotide variant not provided [RCV000829985] Chr18:55228769 [GRCh38]
Chr18:52896000 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.369+243C>T single nucleotide variant not provided [RCV000838537] Chr18:55403211 [GRCh38]
Chr18:53070442 [GRCh37]
Chr18:18q21.2
likely benign
NC_000018.10:g.55232676C>T single nucleotide variant not provided [RCV000835025] Chr18:52899907 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-132C>T single nucleotide variant not provided [RCV000836897] Chr18:55228493 [GRCh38]
Chr18:52895724 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1146+229G>C single nucleotide variant not provided [RCV000829864] Chr18:55257086 [GRCh38]
Chr18:52924317 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*5-68T>A single nucleotide variant not provided [RCV000829986] Chr18:55228098 [GRCh38]
Chr18:52895329 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.500-232A>G single nucleotide variant not provided [RCV000836995] Chr18:55350640 [GRCh38]
Chr18:53017871 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.28= (p.Pro10=) variation Pitt-Hopkins syndrome [RCV000990106] Chr18:55635870 [GRCh38]
Chr18:53303101 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.446A>G (p.Tyr149Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000809153]|not provided [RCV001545076] Chr18:55350927 [GRCh38]
Chr18:53018158 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.923-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV000813294]|not provided [RCV004588283] Chr18:55261535 [GRCh38]
Chr18:52928766 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1879+75T>C single nucleotide variant not provided [RCV000829984] Chr18:55228772 [GRCh38]
Chr18:52896003 [GRCh37]
Chr18:18q21.2
benign
NC_000018.10:g.55403683G>A single nucleotide variant not provided [RCV000834287] Chr18:53070914 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=) single nucleotide variant Pitt-Hopkins syndrome [RCV001392583]|not provided [RCV000828257]|not specified [RCV003987718] Chr18:55228252 [GRCh38]
Chr18:52895483 [GRCh37]
Chr18:18q21.2
likely benign
NC_000018.9:g.(?_52895436)_(53303148_?)dup duplication Pitt-Hopkins syndrome [RCV000821280] Chr18:55228205..55635917 [GRCh38]
Chr18:52895436..53303148 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV000820885] Chr18:55461099 [GRCh38]
Chr18:53128330 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-46302A>G single nucleotide variant not provided [RCV000839565] Chr18:55510439 [GRCh38]
Chr18:53177670 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.550-190C>T single nucleotide variant not provided [RCV000836476] Chr18:55279846 [GRCh38]
Chr18:52947077 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.550-101G>A single nucleotide variant not provided [RCV000836477] Chr18:55279757 [GRCh38]
Chr18:52946988 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1879+216G>A single nucleotide variant not provided [RCV000836479] Chr18:55228631 [GRCh38]
Chr18:52895862 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1070-73G>A single nucleotide variant not provided [RCV000832509] Chr18:55257464 [GRCh38]
Chr18:52924695 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.699G>C (p.Met233Ile) single nucleotide variant not provided [RCV000996690] Chr18:55275709 [GRCh38]
Chr18:52942940 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV000818658] Chr18:55254519 [GRCh38]
Chr18:52921750 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1350+122G>A single nucleotide variant not provided [RCV000833535] Chr18:55254375 [GRCh38]
Chr18:52921606 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.-41G>A single nucleotide variant not provided [RCV000840953] Chr18:55588058 [GRCh38]
Chr18:53255289 [GRCh37]
Chr18:18q21.2
likely benign
NC_000018.10:g.55275596G>A single nucleotide variant not provided [RCV000829619] Chr18:52942827 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1146+198A>G single nucleotide variant not provided [RCV000829863] Chr18:55257117 [GRCh38]
Chr18:52924348 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.923-43G>A single nucleotide variant not provided [RCV000830043] Chr18:55261576 [GRCh38]
Chr18:52928807 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1147-255_1350+179del deletion Pitt-Hopkins syndrome [RCV000824955] Chr18:55254318..55254955 [GRCh38]
Chr18:52921549..52922186 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1229_1232dup (p.Met411fs) duplication not provided [RCV001091650] Chr18:55254614..55254615 [GRCh38]
Chr18:52921845..52921846 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.73-306G>A single nucleotide variant not provided [RCV000826309] Chr18:55585658 [GRCh38]
Chr18:53252889 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.539del (p.Leu180fs) deletion Pitt-Hopkins syndrome [RCV000990104] Chr18:55350369 [GRCh38]
Chr18:53017600 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV000817906] Chr18:55350892 [GRCh38]
Chr18:53018123 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.370-243A>T single nucleotide variant not provided [RCV000836962] Chr18:55351246 [GRCh38]
Chr18:53018477 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.593_602delinsGCCGACTACAATAGGGAC (p.Ser198_Tyr201delinsCysArgLeuGlnTer) indel Pitt-Hopkins syndrome [RCV000821900] Chr18:55279604..55279613 [GRCh38]
Chr18:52946835..52946844 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1350+281C>A single nucleotide variant not provided [RCV000828888] Chr18:55254216 [GRCh38]
Chr18:52921447 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000794454] Chr18:55403465 [GRCh38]
Chr18:53070696 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.423C>T (p.Pro141=) single nucleotide variant Pitt-Hopkins syndrome [RCV001457426] Chr18:55350950 [GRCh38]
Chr18:53018181 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.991-142A>G single nucleotide variant not provided [RCV000831456] Chr18:55260169 [GRCh38]
Chr18:52927400 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1486+172T>C single nucleotide variant not provided [RCV000831457] Chr18:55234376 [GRCh38]
Chr18:52901607 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.72+248C>T single nucleotide variant not provided [RCV000831492] Chr18:55586797 [GRCh38]
Chr18:53254028 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1070-202T>A single nucleotide variant not provided [RCV000838501] Chr18:55257593 [GRCh38]
Chr18:52924824 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1147-69A>G single nucleotide variant not provided [RCV000829848] Chr18:55254769 [GRCh38]
Chr18:52922000 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1350+55A>G single nucleotide variant not provided [RCV000829849] Chr18:55254442 [GRCh38]
Chr18:52921673 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1880-65G>A single nucleotide variant not provided [RCV000829850] Chr18:55228426 [GRCh38]
Chr18:52895657 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.656-116C>G single nucleotide variant not provided [RCV000835410] Chr18:55275868 [GRCh38]
Chr18:52943099 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.145+226C>T single nucleotide variant not provided [RCV000829861] Chr18:55585054 [GRCh38]
Chr18:53252285 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1650-202C>T single nucleotide variant not provided [RCV000829865] Chr18:55229278 [GRCh38]
Chr18:52896509 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1304C>A (p.Ser435Ter) single nucleotide variant not provided [RCV003315061] Chr18:55254543 [GRCh38]
Chr18:52921774 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.619G>T (p.Ala207Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV000824081] Chr18:55279587 [GRCh38]
Chr18:52946818 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.526del (p.Val176fs) deletion not provided [RCV001091652] Chr18:55350382 [GRCh38]
Chr18:53017613 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001243226.3(TCF4):c.74del (p.Asn25fs) deletion Pitt-Hopkins syndrome [RCV002272403]|not provided [RCV001170028] Chr18:55635824 [GRCh38]
Chr18:53303055 [GRCh37]
Chr18:18q21.2
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV001064911] Chr18:55232549 [GRCh38]
Chr18:52899780 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_003199.2(TCF4):c.-458A>C single nucleotide variant not provided [RCV000996691] Chr18:55588475 [GRCh38]
Chr18:53255706 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:52640139-53090100)x3 copy number gain not provided [RCV000847073] Chr18:52640139..53090100 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV000851328] Chr18:55234548 [GRCh38]
Chr18:52901779 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) deletion Intellectual disability [RCV000851504] Chr18:55228986..55228988 [GRCh38]
Chr18:52896217..52896219 [GRCh37]
Chr18:18q21.2
likely pathogenic
GRCh37/hg19 18q21.2(chr18:53144168-53366573)x3 copy number gain not provided [RCV000849744] Chr18:53144168..53366573 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1879+10G>C single nucleotide variant Pitt-Hopkins syndrome [RCV001498327] Chr18:55228837 [GRCh38]
Chr18:52896068 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1244del (p.His415fs) deletion not provided [RCV001009051] Chr18:55254603 [GRCh38]
Chr18:52921834 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2(chr18:53100586-53238245)x1 copy number loss not provided [RCV001006983] Chr18:53100586..53238245 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.41_42del (p.Lys14fs) deletion not provided [RCV001009167] Chr18:55587075..55587076 [GRCh38]
Chr18:53254306..53254307 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.918_922+8del deletion Pitt-Hopkins syndrome [RCV000990102] Chr18:55269823..55269835 [GRCh38]
Chr18:52937054..52937066 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2(chr18:52956790-53108471)x1 copy number loss not provided [RCV001006981] Chr18:52956790..53108471 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001045050] Chr18:55269917 [GRCh38]
Chr18:52937148 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.923-27T>G single nucleotide variant Pitt-Hopkins syndrome [RCV000990101]|not provided [RCV004704395] Chr18:55261560 [GRCh38]
Chr18:52928791 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1203del (p.Asn402fs) deletion Pitt-Hopkins syndrome [RCV001226861] Chr18:55254644 [GRCh38]
Chr18:52921875 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.762del (p.Cys255fs) deletion Pitt-Hopkins syndrome [RCV001227333] Chr18:55275646 [GRCh38]
Chr18:52942877 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp) single nucleotide variant Inborn genetic diseases [RCV001266027]|Pitt-Hopkins syndrome [RCV001221156] Chr18:55229006 [GRCh38]
Chr18:52896237 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.717del (p.Gly240fs) deletion Pitt-Hopkins syndrome [RCV001238298] Chr18:55275691 [GRCh38]
Chr18:52942922 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV001238426] Chr18:55260020 [GRCh38]
Chr18:52927251 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter) insertion Pitt-Hopkins syndrome [RCV001229484] Chr18:55234552..55234553 [GRCh38]
Chr18:52901783..52901784 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*3397T>A single nucleotide variant not provided [RCV003312415] Chr18:55224638 [GRCh38]
Chr18:52891869 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.655+2T>G single nucleotide variant not provided [RCV003312417] Chr18:55279549 [GRCh38]
Chr18:52946780 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.935G>A (p.Ser312Asn) single nucleotide variant not provided [RCV003313649] Chr18:55261521 [GRCh38]
Chr18:52928752 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.789+18G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001198691] Chr18:55275601 [GRCh38]
Chr18:52942832 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*2354A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001127302] Chr18:55225681 [GRCh38]
Chr18:52892912 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2282C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001127304] Chr18:55225753 [GRCh38]
Chr18:52892984 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1983T>C single nucleotide variant Pitt-Hopkins syndrome [RCV001127305] Chr18:55226052 [GRCh38]
Chr18:52893283 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1931G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127307] Chr18:55226104 [GRCh38]
Chr18:52893335 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1914C>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127308] Chr18:55226121 [GRCh38]
Chr18:52893352 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1135_1136insGT (p.Leu379fs) insertion not provided [RCV001008637] Chr18:55257325..55257326 [GRCh38]
Chr18:52924556..52924557 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*5480G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123054] Chr18:55222555 [GRCh38]
Chr18:52889786 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5479G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123055] Chr18:55222556 [GRCh38]
Chr18:52889787 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5457T>G single nucleotide variant Pitt-Hopkins syndrome [RCV001123056] Chr18:55222578 [GRCh38]
Chr18:52889809 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3386A>T single nucleotide variant Pitt-Hopkins syndrome [RCV001123133] Chr18:55224649 [GRCh38]
Chr18:52891880 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001230328] Chr18:55254693 [GRCh38]
Chr18:52921924 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-87G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123420] Chr18:55588104 [GRCh38]
Chr18:53255335 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.-113C>G single nucleotide variant Pitt-Hopkins syndrome [RCV001123422] Chr18:55588130 [GRCh38]
Chr18:53255361 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4907G>C single nucleotide variant Pitt-Hopkins syndrome [RCV001126788] Chr18:55223128 [GRCh38]
Chr18:52890359 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.665dup (p.His222fs) duplication not provided [RCV001200417] Chr18:55275742..55275743 [GRCh38]
Chr18:52942973..52942974 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp) single nucleotide variant Developmental disorder [RCV003127256] Chr18:55229009 [GRCh38]
Chr18:52896240 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val) single nucleotide variant Intellectual disability [RCV003128030] Chr18:55232659 [GRCh38]
Chr18:52899890 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1831C>G (p.Leu611Val) single nucleotide variant not provided [RCV001564729] Chr18:55228895 [GRCh38]
Chr18:52896126 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.207+94C>G single nucleotide variant not provided [RCV001569257] Chr18:55463982 [GRCh38]
Chr18:53131213 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+98CA[11] microsatellite not provided [RCV001552118] Chr18:55463949..55463956 [GRCh38]
Chr18:53131180..53131187 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+128G>C single nucleotide variant not provided [RCV001548563] Chr18:55463948 [GRCh38]
Chr18:53131179 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.258C>G (p.Thr86=) single nucleotide variant not provided [RCV004811349] Chr18:55631326 [GRCh38]
Chr18:53298557 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.677C>G (p.Pro226Arg) single nucleotide variant not provided [RCV004812876] Chr18:55275731 [GRCh38]
Chr18:52942962 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.207+98CA[16] microsatellite not provided [RCV001559975] Chr18:55463948..55463949 [GRCh38]
Chr18:53131179..53131180 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.200C>T (p.Pro67Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001865973]|not provided [RCV001560534] Chr18:55464083 [GRCh38]
Chr18:53131314 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1849G>A (p.Val617Ile) single nucleotide variant not provided [RCV001576725] Chr18:55228877 [GRCh38]
Chr18:52896108 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.207+98CA[18] microsatellite not provided [RCV001672239] Chr18:55463948..55463949 [GRCh38]
Chr18:53131179..53131180 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCA insertion not provided [RCV001667433] Chr18:55463977..55463978 [GRCh38]
Chr18:53131208..53131209 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.207+73TC[14] microsatellite not provided [RCV001710093] Chr18:55463977..55463978 [GRCh38]
Chr18:53131208..53131209 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.146-275A>T single nucleotide variant not provided [RCV001570158] Chr18:55464412 [GRCh38]
Chr18:53131643 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+98_207+99insCTCACA microsatellite not provided [RCV001552351] Chr18:55463977..55463978 [GRCh38]
Chr18:53131208..53131209 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+97_207+104del deletion not provided [RCV001614282] Chr18:55463972..55463979 [GRCh38]
Chr18:53131203..53131210 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1351-153G>C single nucleotide variant not provided [RCV001552861] Chr18:55234836 [GRCh38]
Chr18:52902067 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.305-10C>G single nucleotide variant Pitt-Hopkins syndrome [RCV005092699] Chr18:55403528 [GRCh38]
Chr18:53070759 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.969T>G (p.Ala323=) single nucleotide variant Pitt-Hopkins syndrome [RCV002066351] Chr18:55261487 [GRCh38]
Chr18:52928718 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.123A>G (p.Ala41=) single nucleotide variant Pitt-Hopkins syndrome [RCV001424355] Chr18:55585302 [GRCh38]
Chr18:53252533 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-8C>A single nucleotide variant Pitt-Hopkins syndrome [RCV000875160]|not provided [RCV001672975] Chr18:55279664 [GRCh38]
Chr18:52946895 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.239C>T (p.Thr80Met) single nucleotide variant not provided [RCV000996692] Chr18:55631345 [GRCh38]
Chr18:53298576 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1371T>C (p.Asp457=) single nucleotide variant Pitt-Hopkins syndrome [RCV000899739] Chr18:55234663 [GRCh38]
Chr18:52901894 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV001198596] Chr18:55588478 [GRCh38]
Chr18:53255709 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-46442G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001198683]|not provided [RCV003222253] Chr18:55510579 [GRCh38]
Chr18:53177810 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.789+327T>G single nucleotide variant not provided [RCV001539514] Chr18:55275292 [GRCh38]
Chr18:52942523 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1147-3C>G single nucleotide variant Pitt-Hopkins syndrome [RCV001209903]|not specified [RCV001174968] Chr18:55254703 [GRCh38]
Chr18:52921934 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4789G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001126790] Chr18:55223246 [GRCh38]
Chr18:52890477 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*708T>A single nucleotide variant Pitt-Hopkins syndrome [RCV001126994] Chr18:55227327 [GRCh38]
Chr18:52894558 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*4320A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001127197] Chr18:55223715 [GRCh38]
Chr18:52890946 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3938G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127199] Chr18:55224097 [GRCh38]
Chr18:52891328 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*521G>C single nucleotide variant Pitt-Hopkins syndrome [RCV001127411] Chr18:55227514 [GRCh38]
Chr18:52894745 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*294C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001127414] Chr18:55227741 [GRCh38]
Chr18:52894972 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3338A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001123134] Chr18:55224697 [GRCh38]
Chr18:52891928 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1747T>G single nucleotide variant Pitt-Hopkins syndrome [RCV001123233] Chr18:55226288 [GRCh38]
Chr18:52893519 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV001216927] Chr18:55350395 [GRCh38]
Chr18:53017626 [GRCh37]
Chr18:18q21.2
uncertain significance
NC_000018.10:g.(?_55234528)_(55234703_?)del deletion Pitt-Hopkins syndrome [RCV001033873] Chr18:52901759..52901934 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) single nucleotide variant Pitt-Hopkins syndrome [RCV001125433]|not provided [RCV001712855] Chr18:55269850 [GRCh38]
Chr18:52937081 [GRCh37]
Chr18:18q21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.370-5T>A single nucleotide variant Pitt-Hopkins syndrome [RCV001225436] Chr18:55351008 [GRCh38]
Chr18:53018239 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1281T>C (p.Asn427=) single nucleotide variant Pitt-Hopkins syndrome [RCV001439075] Chr18:55254566 [GRCh38]
Chr18:52921797 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1356del (p.Thr453fs) deletion Pitt-Hopkins syndrome [RCV002470405] Chr18:55234678 [GRCh38]
Chr18:52901909 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*4+34C>T single nucleotide variant not provided [RCV001621325] Chr18:55228187 [GRCh38]
Chr18:52895418 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1486+5G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001563622] Chr18:55234543 [GRCh38]
Chr18:52901774 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.404A>G (p.Asn135Ser) single nucleotide variant not provided [RCV001593855] Chr18:55350969 [GRCh38]
Chr18:53018200 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1879+32G>A single nucleotide variant not provided [RCV001593984] Chr18:55228815 [GRCh38]
Chr18:52896046 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.368A>G (p.Gln123Arg) single nucleotide variant not provided [RCV001553275] Chr18:55403455 [GRCh38]
Chr18:53070686 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.369+1672A>G single nucleotide variant not provided [RCV003312418] Chr18:55401782 [GRCh38]
Chr18:53069013 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-2A>C single nucleotide variant not provided [RCV002464674] Chr18:55279658 [GRCh38]
Chr18:52946889 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.305-159dup duplication Pitt-Hopkins syndrome [RCV002472229] Chr18:55403676..55403677 [GRCh38]
Chr18:53070907..53070908 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) single nucleotide variant Oculomotor apraxia [RCV001263440]|Pitt-Hopkins syndrome [RCV001880058]|not provided [RCV001760308]|not specified [RCV004800947] Chr18:55257355 [GRCh38]
Chr18:52924586 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.72+204del deletion not provided [RCV001722828] Chr18:55586841 [GRCh38]
Chr18:53254072 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.208-122C>A single nucleotide variant not provided [RCV001676442] Chr18:55461237 [GRCh38]
Chr18:53128468 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.207+97_207+102del deletion not provided [RCV001590728] Chr18:55463974..55463979 [GRCh38]
Chr18:53131205..53131210 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.207+98CA[17] microsatellite not provided [RCV001673345] Chr18:55463948..55463949 [GRCh38]
Chr18:53131179..53131180 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.207+129_207+130insAC insertion not provided [RCV001598515] Chr18:55463946..55463947 [GRCh38]
Chr18:53131177..53131178 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001034281] Chr18:55228275 [GRCh38]
Chr18:52895506 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*1855G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123232] Chr18:55226180 [GRCh38]
Chr18:52893411 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5339A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001124124] Chr18:55222696 [GRCh38]
Chr18:52889927 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.148G>T (p.Val50Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001034482] Chr18:55464135 [GRCh38]
Chr18:53131366 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.922+1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001252366] Chr18:55269830 [GRCh38]
Chr18:52937061 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs) indel Pitt-Hopkins syndrome [RCV001253783] Chr18:55279567..55279569 [GRCh38]
Chr18:52946798..52946800 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*1739G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001124333] Chr18:55226296 [GRCh38]
Chr18:52893527 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001071212] Chr18:55403480 [GRCh38]
Chr18:53070711 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-605G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001124522] Chr18:55588622 [GRCh38]
Chr18:53255853 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) single nucleotide variant Pitt-Hopkins syndrome [RCV001125432] Chr18:55261517 [GRCh38]
Chr18:52928748 [GRCh37]
Chr18:18q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.294del (p.Arg99fs) deletion Pitt-Hopkins syndrome [RCV001027865] Chr18:55461029 [GRCh38]
Chr18:53128260 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1139del (p.His380fs) deletion not provided [RCV001091651] Chr18:55257322 [GRCh38]
Chr18:52924553 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*4833A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001126789] Chr18:55223202 [GRCh38]
Chr18:52890433 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4623A>T single nucleotide variant Pitt-Hopkins syndrome [RCV001126792] Chr18:55223412 [GRCh38]
Chr18:52890643 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2300G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127303] Chr18:55225735 [GRCh38]
Chr18:52892966 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5124G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001126787] Chr18:55222911 [GRCh38]
Chr18:52890142 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3 copy number gain See cases [RCV001007426] Chr18:51802787..53000275 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4246G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001127198] Chr18:55223789 [GRCh38]
Chr18:52891020 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-77C>G single nucleotide variant Pitt-Hopkins syndrome [RCV001127540] Chr18:55588094 [GRCh38]
Chr18:53255325 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*452T>G single nucleotide variant Pitt-Hopkins syndrome [RCV001127412]|not provided [RCV003311948] Chr18:55227583 [GRCh38]
Chr18:52894814 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.*272G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001127415] Chr18:55227763 [GRCh38]
Chr18:52894994 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3563A>C single nucleotide variant Pitt-Hopkins syndrome [RCV001123132] Chr18:55224472 [GRCh38]
Chr18:52891703 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3209A>C single nucleotide variant Pitt-Hopkins syndrome [RCV001124215] Chr18:55224826 [GRCh38]
Chr18:52892057 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3130C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001124216] Chr18:55224905 [GRCh38]
Chr18:52892136 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*3014C>G single nucleotide variant Pitt-Hopkins syndrome [RCV001124217] Chr18:55225021 [GRCh38]
Chr18:52892252 [GRCh37]
Chr18:18q21.2
uncertain significance
NC_000018.10:g.(?_55228205)_(55403734_?)dup duplication Pitt-Hopkins syndrome [RCV001032555] Chr18:52895436..53070965 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.305-53dup duplication not provided [RCV001587490] Chr18:55403562..55403563 [GRCh38]
Chr18:53070793..53070794 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.*10A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001542411] Chr18:55228025 [GRCh38]
Chr18:52895256 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.73A>G (p.Met25Val) single nucleotide variant Pitt-Hopkins syndrome [RCV001050399] Chr18:55585352 [GRCh38]
Chr18:53252583 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.145+123C>T single nucleotide variant not provided [RCV001615826] Chr18:55585157 [GRCh38]
Chr18:53252388 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.990+192C>T single nucleotide variant not provided [RCV001643307] Chr18:55261274 [GRCh38]
Chr18:52928505 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1681del (p.Gln561fs) deletion Pitt-Hopkins syndrome [RCV001204774] Chr18:55229045 [GRCh38]
Chr18:52896276 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV001235024] Chr18:55585318 [GRCh38]
Chr18:53252549 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) single nucleotide variant Inborn genetic diseases [RCV002553836]|Pitt-Hopkins syndrome [RCV001057566]|not specified [RCV005418975] Chr18:55254498 [GRCh38]
Chr18:52921729 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.1646C>G (p.Ser549Cys) single nucleotide variant not provided [RCV001091649] Chr18:55232512 [GRCh38]
Chr18:52899743 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.*5369C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001124123] Chr18:55222666 [GRCh38]
Chr18:52889897 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.*1443C>A single nucleotide variant Pitt-Hopkins syndrome [RCV001124334] Chr18:55226592 [GRCh38]
Chr18:52893823 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1017G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001124336] Chr18:55227018 [GRCh38]
Chr18:52894249 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001235064] Chr18:55254580 [GRCh38]
Chr18:52921811 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV001059274] Chr18:55228954 [GRCh38]
Chr18:52896185 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.145+6T>C single nucleotide variant Pitt-Hopkins syndrome [RCV001034078] Chr18:55585274 [GRCh38]
Chr18:53252505 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001213733] Chr18:55232539 [GRCh38]
Chr18:52899770 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001203505] Chr18:55275687 [GRCh38]
Chr18:52942918 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4752A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001126791] Chr18:55223283 [GRCh38]
Chr18:52890514 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) single nucleotide variant Pitt-Hopkins syndrome [RCV001123338] Chr18:55228289 [GRCh38]
Chr18:52895520 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.1(TCF4):c.-184T>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123423] Chr18:55588201 [GRCh38]
Chr18:53255432 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*819A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001126993] Chr18:55227216 [GRCh38]
Chr18:52894447 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*4437G>C single nucleotide variant Pitt-Hopkins syndrome [RCV001127196] Chr18:55223598 [GRCh38]
Chr18:52890829 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV001212416] Chr18:55279617 [GRCh38]
Chr18:52946848 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) duplication Pitt-Hopkins syndrome [RCV001027850] Chr18:55257342..55257343 [GRCh38]
Chr18:52924573..52924574 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.*1959G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127306] Chr18:55226076 [GRCh38]
Chr18:52893307 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*548C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001127410] Chr18:55227487 [GRCh38]
Chr18:52894718 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*295G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001127413] Chr18:55227740 [GRCh38]
Chr18:52894971 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV001040581] Chr18:55275749 [GRCh38]
Chr18:52942980 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*2918A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001124218] Chr18:55225117 [GRCh38]
Chr18:52892348 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*1405T>G single nucleotide variant Pitt-Hopkins syndrome [RCV001124335] Chr18:55226630 [GRCh38]
Chr18:52893861 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) single nucleotide variant Pitt-Hopkins syndrome [RCV001124425]|not provided [RCV004597960] Chr18:55232657 [GRCh38]
Chr18:52899888 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001202549] Chr18:55259982 [GRCh38]
Chr18:52927213 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*138G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123337] Chr18:55227897 [GRCh38]
Chr18:52895128 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-102G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001123421] Chr18:55588119 [GRCh38]
Chr18:53255350 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001069110] Chr18:55269930 [GRCh38]
Chr18:52937161 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.*5370G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001124122] Chr18:55222665 [GRCh38]
Chr18:52889896 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1777del (p.Arg593fs) deletion Pitt-Hopkins syndrome [RCV001069850] Chr18:55228949 [GRCh38]
Chr18:52896180 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001231724] Chr18:55269849 [GRCh38]
Chr18:52937080 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1351G>A (p.Val451Met) single nucleotide variant Inborn genetic diseases [RCV004963034]|Pitt-Hopkins syndrome [RCV001048465] Chr18:55234683 [GRCh38]
Chr18:52901914 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.922+5G>A single nucleotide variant Pitt-Hopkins syndrome [RCV001063198] Chr18:55269826 [GRCh38]
Chr18:52937057 [GRCh37]
Chr18:18q21.2
pathogenic|uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
NM_001083962.2(TCF4):c.1459_1462dup (p.Asn488fs) duplication Global developmental delay [RCV001255403] Chr18:55234571..55234572 [GRCh38]
Chr18:52901802..52901803 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.458G>A (p.Ser153Asn) single nucleotide variant Microcephaly [RCV001252787] Chr18:55350915 [GRCh38]
Chr18:53018146 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) single nucleotide variant Microcephaly [RCV001252686]|Pitt-Hopkins syndrome [RCV003444736] Chr18:55228913 [GRCh38]
Chr18:52896144 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.991-8_991-4del deletion Pitt-Hopkins syndrome [RCV001885065]|not provided [RCV001765836] Chr18:55260031..55260035 [GRCh38]
Chr18:52927262..52927266 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro) single nucleotide variant Inborn genetic diseases [RCV001266931] Chr18:55228910 [GRCh38]
Chr18:52896141 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1486+1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001255977] Chr18:55234547 [GRCh38]
Chr18:52901778 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1879+1G>T single nucleotide variant not provided [RCV002280083] Chr18:55228846 [GRCh38]
Chr18:52896077 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1899dup (p.Ala634fs) duplication not provided [RCV001267974] Chr18:55228341..55228342 [GRCh38]
Chr18:52895572..52895573 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001262615] Chr18:55269945 [GRCh38]
Chr18:52937176 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001262626] Chr18:55635812 [GRCh38]
Chr18:53303043 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.740A>G (p.His247Arg) single nucleotide variant not specified [RCV004782171] Chr18:55275668 [GRCh38]
Chr18:52942899 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1295_1296del (p.Gly432fs) deletion not provided [RCV001268120] Chr18:55254551..55254552 [GRCh38]
Chr18:52921782..52921783 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001964313] Chr18:55275689 [GRCh38]
Chr18:52942920 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.656-1G>A single nucleotide variant not provided [RCV001268809] Chr18:55275753 [GRCh38]
Chr18:52942984 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1832T>C (p.Leu611Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV005401954]|not provided [RCV002284811] Chr18:55228894 [GRCh38]
Chr18:52896125 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.624del (p.Ser209fs) deletion Inborn genetic diseases [RCV001266927] Chr18:55279582 [GRCh38]
Chr18:52946813 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1348A>G (p.Met450Val) single nucleotide variant Inborn genetic diseases [RCV004967992]|Pitt-Hopkins syndrome [RCV001308029]|not provided [RCV002508306] Chr18:55254499 [GRCh38]
Chr18:52921730 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala) single nucleotide variant Inborn genetic diseases [RCV004681137]|Pitt-Hopkins syndrome [RCV001351836] Chr18:55228290 [GRCh38]
Chr18:52895521 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His) single nucleotide variant Pitt-Hopkins syndrome [RCV001302137] Chr18:55228948 [GRCh38]
Chr18:52896179 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV001337348] Chr18:55228955 [GRCh38]
Chr18:52896186 [GRCh37]
Chr18:18q21.2
likely pathogenic|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.548C>G (p.Ser183Ter) single nucleotide variant not provided [RCV001269639] Chr18:55350360 [GRCh38]
Chr18:53017591 [GRCh37]
Chr18:18q21.2
pathogenic
Single allele deletion Intellectual disability, mild [RCV001787258] Chr18:53243454..53287927 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1650-6C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001392587] Chr18:55229082 [GRCh38]
Chr18:52896313 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001373725] Chr18:55234628 [GRCh38]
Chr18:52901859 [GRCh37]
Chr18:18q21.2
uncertain significance
NC_000018.9:g.(?_52895436)_(53070965_?)dup duplication Pitt-Hopkins syndrome [RCV001295197] Chr18:52895436..53070965 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-136A>T single nucleotide variant not provided [RCV001538922] Chr18:55464273 [GRCh38]
Chr18:53131504 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001321438] Chr18:55234586 [GRCh38]
Chr18:52901817 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001345640] Chr18:55585289 [GRCh38]
Chr18:53252520 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001308535] Chr18:55403473 [GRCh38]
Chr18:53070704 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001299122] Chr18:55461019 [GRCh38]
Chr18:53128250 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp) single nucleotide variant Pitt-Hopkins syndrome [RCV001345819] Chr18:55254646 [GRCh38]
Chr18:52921877 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val) single nucleotide variant Pitt-Hopkins syndrome [RCV001343825] Chr18:55254516 [GRCh38]
Chr18:52921747 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.550-22803C>T single nucleotide variant not provided [RCV001356978] Chr18:55302459 [GRCh38]
Chr18:52969690 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV001296531] Chr18:55279652 [GRCh38]
Chr18:52946883 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001315237] Chr18:55461103 [GRCh38]
Chr18:53128334 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.549+1_549+2dup duplication Pitt-Hopkins syndrome [RCV001348557] Chr18:55350356..55350357 [GRCh38]
Chr18:53017587..53017588 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV001359240] Chr18:55228920 [GRCh38]
Chr18:52896151 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001371168] Chr18:55269956 [GRCh38]
Chr18:52937187 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV001300533]|not provided [RCV002298925] Chr18:55228982 [GRCh38]
Chr18:52896213 [GRCh37]
Chr18:18q21.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001083962.2(TCF4):c.671G>A (p.Ser224Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV001472918] Chr18:55275737 [GRCh38]
Chr18:52942968 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) single nucleotide variant Pitt-Hopkins syndrome [RCV001522519]|not provided [RCV005369906] Chr18:55350932 [GRCh38]
Chr18:53018163 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV001384836] Chr18:55254676 [GRCh38]
Chr18:52921907 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1650-4A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001451931] Chr18:55229080 [GRCh38]
Chr18:52896311 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.370-8C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001402944] Chr18:55351011 [GRCh38]
Chr18:53018242 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001515996]|not specified [RCV001821822] Chr18:55279557 [GRCh38]
Chr18:52946788 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.1905G>C (p.Ala635=) single nucleotide variant Pitt-Hopkins syndrome [RCV001489067] Chr18:55228336 [GRCh38]
Chr18:52895567 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.369+9G>C single nucleotide variant Pitt-Hopkins syndrome [RCV001474400] Chr18:55403445 [GRCh38]
Chr18:53070676 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.520C>A (p.Arg174=) single nucleotide variant Pitt-Hopkins syndrome [RCV001456127]|not provided [RCV004704574] Chr18:55350388 [GRCh38]
Chr18:53017619 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.576C>A (p.Ala192=) single nucleotide variant Pitt-Hopkins syndrome [RCV001462960]|not provided [RCV004598000] Chr18:55279630 [GRCh38]
Chr18:52946861 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.145+7A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001474497] Chr18:55585273 [GRCh38]
Chr18:53252504 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1659C>T (p.Asp553=) single nucleotide variant Pitt-Hopkins syndrome [RCV001404369] Chr18:55229067 [GRCh38]
Chr18:52896298 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.624C>G (p.Thr208=) single nucleotide variant Pitt-Hopkins syndrome [RCV001432446] Chr18:55279582 [GRCh38]
Chr18:52946813 [GRCh37]
Chr18:18q21.2
likely benign
NC_000018.9:g.(?_52888562)_53256860del deletion Pitt-Hopkins syndrome [RCV001387477]   pathogenic
NM_001083962.2(TCF4):c.500-4T>A single nucleotide variant Pitt-Hopkins syndrome [RCV001443736] Chr18:55350412 [GRCh38]
Chr18:53017643 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1656T>C (p.Asn552=) single nucleotide variant Pitt-Hopkins syndrome [RCV001439785] Chr18:55229070 [GRCh38]
Chr18:52896301 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.36G>C (p.Thr12=) single nucleotide variant Pitt-Hopkins syndrome [RCV001449316] Chr18:55587081 [GRCh38]
Chr18:53254312 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.696G>A (p.Gly232=) single nucleotide variant Pitt-Hopkins syndrome [RCV001417343] Chr18:55275712 [GRCh38]
Chr18:52942943 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.770dup (p.His258fs) duplication Pitt-Hopkins syndrome [RCV001390496] Chr18:55275637..55275638 [GRCh38]
Chr18:52942868..52942869 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs) duplication Pitt-Hopkins syndrome [RCV001381770] Chr18:55232652..55232653 [GRCh38]
Chr18:52899883..52899884 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001509805] Chr18:55403462 [GRCh38]
Chr18:53070693 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.146-120G>T single nucleotide variant not provided [RCV001715611] Chr18:55464257 [GRCh38]
Chr18:53131488 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1050C>G (p.Gly350=) single nucleotide variant Pitt-Hopkins syndrome [RCV001477459] Chr18:55259968 [GRCh38]
Chr18:52927199 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1147-76G>A single nucleotide variant not provided [RCV001674462] Chr18:55254776 [GRCh38]
Chr18:52922007 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.237C>T (p.His79=) single nucleotide variant Pitt-Hopkins syndrome [RCV001494940] Chr18:55461086 [GRCh38]
Chr18:53128317 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.810A>G (p.Ser270=) single nucleotide variant Pitt-Hopkins syndrome [RCV001457005] Chr18:55269943 [GRCh38]
Chr18:52937174 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-5C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001503393] Chr18:55464142 [GRCh38]
Chr18:53131373 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.879C>T (p.Thr293=) single nucleotide variant Pitt-Hopkins syndrome [RCV001503452] Chr18:55269874 [GRCh38]
Chr18:52937105 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1946C>T (p.Pro649Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001476305] Chr18:55228295 [GRCh38]
Chr18:52895526 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.655+9C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001476536] Chr18:55279542 [GRCh38]
Chr18:52946773 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.414C>G (p.Thr138=) single nucleotide variant Pitt-Hopkins syndrome [RCV001423728]|not specified [RCV005237803] Chr18:55350959 [GRCh38]
Chr18:53018190 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1487-7T>G single nucleotide variant Pitt-Hopkins syndrome [RCV001456211] Chr18:55232678 [GRCh38]
Chr18:52899909 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1617G>A (p.Lys539=) single nucleotide variant Pitt-Hopkins syndrome [RCV001468034] Chr18:55232541 [GRCh38]
Chr18:52899772 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-12_550-2del deletion Pitt-Hopkins syndrome [RCV001377381] Chr18:55279658..55279668 [GRCh38]
Chr18:52946889..52946899 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.991-1del deletion Pitt-Hopkins syndrome [RCV001379512] Chr18:55260028 [GRCh38]
Chr18:52927259 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.499+8A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001483973] Chr18:55350866 [GRCh38]
Chr18:53018097 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.677del (p.Pro226fs) deletion Pitt-Hopkins syndrome [RCV001528123] Chr18:55275731 [GRCh38]
Chr18:52942962 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.753C>T (p.Ser251=) single nucleotide variant Pitt-Hopkins syndrome [RCV001400853] Chr18:55275655 [GRCh38]
Chr18:52942886 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.337G>T (p.Gly113Trp) single nucleotide variant not provided [RCV001508831] Chr18:55403486 [GRCh38]
Chr18:53070717 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.708T>G (p.Pro236=) single nucleotide variant Pitt-Hopkins syndrome [RCV001456664] Chr18:55275700 [GRCh38]
Chr18:52942931 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV001384784] Chr18:55232654 [GRCh38]
Chr18:52899885 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.550-22780G>A single nucleotide variant Corneal dystrophy, Fuchs endothelial, 3 [RCV003225763] Chr18:55302436 [GRCh38]
Chr18:52969667 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.549+28669T>C single nucleotide variant See cases [RCV002253047] Chr18:55321690 [GRCh38]
Chr18:52988921 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.573T>C (p.Thr191=) single nucleotide variant not provided [RCV001727062] Chr18:55279633 [GRCh38]
Chr18:52946864 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1392C>A (p.Ser464Arg) single nucleotide variant not provided [RCV004798478] Chr18:55234642 [GRCh38]
Chr18:52901873 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV002077195]|not provided [RCV001755142] Chr18:55461078 [GRCh38]
Chr18:53128309 [GRCh37]
Chr18:18q21.2
benign|likely benign|uncertain significance
NM_001083962.2(TCF4):c.755del (p.Ser252fs) deletion not provided [RCV001783856] Chr18:55275653 [GRCh38]
Chr18:52942884 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.579C>G (p.Asp193Glu) single nucleotide variant Inborn genetic diseases [RCV003253723] Chr18:55279627 [GRCh38]
Chr18:52946858 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs) deletion Pitt-Hopkins syndrome [RCV001785391] Chr18:55234579..55234580 [GRCh38]
Chr18:52901810..52901811 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.322T>G (p.Ser108Ala) single nucleotide variant not provided [RCV001767012] Chr18:55403501 [GRCh38]
Chr18:53070732 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1481dup (p.Tyr494Ter) duplication not provided [RCV001783855] Chr18:55234552..55234553 [GRCh38]
Chr18:52901783..52901784 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.715G>C (p.Ala239Pro) single nucleotide variant not provided [RCV003238638] Chr18:55275693 [GRCh38]
Chr18:52942924 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV001769978]|not provided [RCV001822000] Chr18:55254682 [GRCh38]
Chr18:52921913 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001083962.2(TCF4):c.990+1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV001775439] Chr18:55261465 [GRCh38]
Chr18:52928696 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*4+1G>A single nucleotide variant not provided [RCV001770654] Chr18:55228220 [GRCh38]
Chr18:52895451 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV002543906]|not provided [RCV001732799] Chr18:55350379 [GRCh38]
Chr18:53017610 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001882812]|Pitt-Hopkins syndrome [RCV005396983]|not provided [RCV001754361] Chr18:55279556 [GRCh38]
Chr18:52946787 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr) single nucleotide variant SUDDEN INFANT DEATH SYNDROME [RCV001787419] Chr18:55279644 [GRCh38]
Chr18:52946875 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.560dup (p.Ser188fs) duplication Pitt-Hopkins syndrome [RCV001775344] Chr18:55279645..55279646 [GRCh38]
Chr18:52946876..52946877 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.635C>G (p.Pro212Arg) single nucleotide variant not provided [RCV001752423] Chr18:55279571 [GRCh38]
Chr18:52946802 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1379C>T (p.Ala460Val) single nucleotide variant not provided [RCV001768561] Chr18:55234655 [GRCh38]
Chr18:52901886 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.988T>G (p.Ser330Ala) single nucleotide variant not provided [RCV001754022] Chr18:55261468 [GRCh38]
Chr18:52928699 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001885307]|not provided [RCV001816222] Chr18:55261510 [GRCh38]
Chr18:52928741 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV001788532] Chr18:55228909 [GRCh38]
Chr18:52896140 [GRCh37]
Chr18:18q21.2
pathogenic|uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
NM_001083962.2(TCF4):c.1196T>C (p.Val399Ala) single nucleotide variant not provided [RCV001815841] Chr18:55254651 [GRCh38]
Chr18:52921882 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.235C>G (p.His79Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV002542363]|not provided [RCV001806681] Chr18:55461088 [GRCh38]
Chr18:53128319 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001243226.3(TCF4):c.59T>G (p.Phe20Cys) single nucleotide variant not provided [RCV001816223] Chr18:55635839 [GRCh38]
Chr18:53303070 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1208A>T (p.His403Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001809038] Chr18:55254639 [GRCh38]
Chr18:52921870 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter) single nucleotide variant not provided [RCV001817860] Chr18:55229063 [GRCh38]
Chr18:52896294 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1059A>G (p.Pro353=) single nucleotide variant not specified [RCV001819354] Chr18:55259959 [GRCh38]
Chr18:52927190 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1397C>G (p.Ser466Cys) single nucleotide variant See cases [RCV004798144] Chr18:55234637 [GRCh38]
Chr18:52901868 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1343C>G (p.Ser448Ter) single nucleotide variant not provided [RCV004798367] Chr18:55254504 [GRCh38]
Chr18:52921735 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.947del (p.Gly316fs) deletion Pitt-Hopkins syndrome [RCV004799067] Chr18:55261509 [GRCh38]
Chr18:52928740 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1273del (p.Ser425fs) deletion Pitt-Hopkins syndrome [RCV004799066] Chr18:55254574 [GRCh38]
Chr18:52921805 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001814955] Chr18:55275741 [GRCh38]
Chr18:52942972 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.577G>A (p.Asp193Asn) single nucleotide variant not provided [RCV001824486] Chr18:55279629 [GRCh38]
Chr18:52946860 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) single nucleotide variant Pitt-Hopkins syndrome [RCV001864667] Chr18:55461077 [GRCh38]
Chr18:53128308 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.207G>A (p.Arg69=) single nucleotide variant Pitt-Hopkins syndrome [RCV001983790] Chr18:55464076 [GRCh38]
Chr18:53131307 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.412A>G (p.Thr138Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001913263] Chr18:55350961 [GRCh38]
Chr18:53018192 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.264T>A (p.His88Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001985922] Chr18:55461059 [GRCh38]
Chr18:53128290 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) single nucleotide variant Global developmental delay [RCV002463815]|Pitt-Hopkins syndrome [RCV003152773]|not provided [RCV001847470] Chr18:55228994 [GRCh38]
Chr18:52896225 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys) single nucleotide variant Pitt-Hopkins syndrome [RCV001945595] Chr18:55350897 [GRCh38]
Chr18:53018128 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.549+23042C>T single nucleotide variant Pitt-Hopkins syndrome [RCV001839348] Chr18:55327317 [GRCh38]
Chr18:52994548 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001964224] Chr18:55228999 [GRCh38]
Chr18:52896230 [GRCh37]
Chr18:18q21.2
likely pathogenic|uncertain significance
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His) single nucleotide variant Pitt-Hopkins syndrome [RCV001889643] Chr18:55234621 [GRCh38]
Chr18:52901852 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.421C>T (p.Pro141Ser) single nucleotide variant Inborn genetic diseases [RCV002329769]|not provided [RCV001824521] Chr18:55350952 [GRCh38]
Chr18:53018183 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:53289889-53383013) copy number loss not specified [RCV002052645] Chr18:53289889..53383013 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.550-3C>G single nucleotide variant not provided [RCV001849170] Chr18:55279659 [GRCh38]
Chr18:52946890 [GRCh37]
Chr18:18q21.2
not provided
NM_001083962.2(TCF4):c.1147-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002044024] Chr18:55254702 [GRCh38]
Chr18:52921933 [GRCh37]
Chr18:18q21.2
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001891902] Chr18:55275707 [GRCh38]
Chr18:52942938 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs) microsatellite Pitt-Hopkins syndrome [RCV001928681] Chr18:55279577..55279578 [GRCh38]
Chr18:52946808..52946809 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18q21.2(chr18:53277008-53428347) copy number loss not specified [RCV002052644] Chr18:53277008..53428347 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV002042153] Chr18:55254556 [GRCh38]
Chr18:52921787 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248) copy number loss not specified [RCV002052638] Chr18:50707829..54924248 [GRCh37]
Chr18:18q21.2-21.31
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001983310] Chr18:55254553 [GRCh38]
Chr18:52921784 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_001083962.2(TCF4):c.1249del (p.Asp417fs) deletion Pitt-Hopkins syndrome [RCV001824476] Chr18:55254598 [GRCh38]
Chr18:52921829 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys) single nucleotide variant Pitt-Hopkins syndrome [RCV001943064] Chr18:55261501 [GRCh38]
Chr18:52928732 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV002000804] Chr18:55464105 [GRCh38]
Chr18:53131336 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV002048355] Chr18:55279584 [GRCh38]
Chr18:52946815 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV002031325] Chr18:55259961 [GRCh38]
Chr18:52927192 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001906055] Chr18:55275717 [GRCh38]
Chr18:52942948 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV001888744] Chr18:55254610 [GRCh38]
Chr18:52921841 [GRCh37]
Chr18:18q21.2
uncertain significance
NC_000018.9:g.(?_53070665)_(53070769_?)del deletion Pitt-Hopkins syndrome [RCV001963208] Chr18:53070665..53070769 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg) single nucleotide variant Inborn genetic diseases [RCV004970561]|Pitt-Hopkins syndrome [RCV001938738] Chr18:55261519 [GRCh38]
Chr18:52928750 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.145+3A>G single nucleotide variant Pitt-Hopkins syndrome [RCV001932306]|not provided [RCV005412291] Chr18:55585277 [GRCh38]
Chr18:53252508 [GRCh37]
Chr18:18q21.2
uncertain significance
NC_000018.9:g.(?_52921708)_(53070769_?)del deletion Pitt-Hopkins syndrome [RCV001956426] Chr18:52921708..53070769 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001898150] Chr18:55275710 [GRCh38]
Chr18:52942941 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.790-1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002048467] Chr18:55269964 [GRCh38]
Chr18:52937195 [GRCh37]
Chr18:18q21.2
pathogenic|likely pathogenic
NM_001083962.2(TCF4):c.1468C>T (p.Pro490Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001918533] Chr18:55234566 [GRCh38]
Chr18:52901797 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV001900101] Chr18:55254690 [GRCh38]
Chr18:52921921 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV001867156] Chr18:55232663 [GRCh38]
Chr18:52899894 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001881381] Chr18:55228847 [GRCh38]
Chr18:52896078 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs) duplication Pitt-Hopkins syndrome [RCV001876527] Chr18:55257322..55257323 [GRCh38]
Chr18:52924553..52924554 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_52895456)_(53254347_?)dup duplication Pitt-Hopkins syndrome [RCV001880770] Chr18:52895456..53254347 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV001906077] Chr18:55234616 [GRCh38]
Chr18:52901847 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.887del (p.Cys296fs) deletion Pitt-Hopkins syndrome [RCV001939393] Chr18:55269866 [GRCh38]
Chr18:52937097 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.9C>G (p.His3Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV001932097] Chr18:55587108 [GRCh38]
Chr18:53254339 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV002046624] Chr18:55269888 [GRCh38]
Chr18:52937119 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.188del (p.Gly63fs) deletion Pitt-Hopkins syndrome [RCV001923293] Chr18:55464095 [GRCh38]
Chr18:53131326 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002046689] Chr18:55257352 [GRCh38]
Chr18:52924583 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV001974550] Chr18:55350886 [GRCh38]
Chr18:53018117 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His) single nucleotide variant Pitt-Hopkins syndrome [RCV001997196] Chr18:55275696 [GRCh38]
Chr18:52942927 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001981068] Chr18:55232671 [GRCh38]
Chr18:52899902 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1432C>G (p.Pro478Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV001976679] Chr18:55234602 [GRCh38]
Chr18:52901833 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His) single nucleotide variant Inborn genetic diseases [RCV002552165]|Pitt-Hopkins syndrome [RCV001879566] Chr18:55254667 [GRCh38]
Chr18:52921898 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.670del (p.Ser224fs) deletion Pitt-Hopkins syndrome [RCV001993279] Chr18:55275738 [GRCh38]
Chr18:52942969 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) single nucleotide variant Pitt-Hopkins syndrome [RCV002091911] Chr18:55254616 [GRCh38]
Chr18:52921847 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1110A>G (p.Ser370=) single nucleotide variant Pitt-Hopkins syndrome [RCV002205640] Chr18:55257351 [GRCh38]
Chr18:52924582 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.690C>T (p.Ser230=) single nucleotide variant Pitt-Hopkins syndrome [RCV002166153] Chr18:55275718 [GRCh38]
Chr18:52942949 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.208-16G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002104303] Chr18:55461131 [GRCh38]
Chr18:53128362 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-17G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002125486] Chr18:55228378 [GRCh38]
Chr18:52895609 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.549+18C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002165160] Chr18:55350341 [GRCh38]
Chr18:53017572 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1731G>A (p.Glu577=) single nucleotide variant Pitt-Hopkins syndrome [RCV002072606] Chr18:55228995 [GRCh38]
Chr18:52896226 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.790-17del deletion Pitt-Hopkins syndrome [RCV002125098] Chr18:55269980 [GRCh38]
Chr18:52937211 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1248G>A (p.Gly416=) single nucleotide variant Pitt-Hopkins syndrome [RCV002164885] Chr18:55254599 [GRCh38]
Chr18:52921830 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.73-21_73-19del deletion Pitt-Hopkins syndrome [RCV002169450] Chr18:55585371..55585373 [GRCh38]
Chr18:53252602..53252604 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1107C>G (p.Ala369=) single nucleotide variant Pitt-Hopkins syndrome [RCV002166380] Chr18:55257354 [GRCh38]
Chr18:52924585 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1070-5A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002084743] Chr18:55257396 [GRCh38]
Chr18:52924627 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.923-11T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002207538] Chr18:55261544 [GRCh38]
Chr18:52928775 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1485_1486dup (p.Gly496fs) microsatellite Pitt-Hopkins syndrome [RCV002226957] Chr18:55234547..55234548 [GRCh38]
Chr18:52901778..52901779 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.369+11A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002126150] Chr18:55403443 [GRCh38]
Chr18:53070674 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.73-12T>G single nucleotide variant Pitt-Hopkins syndrome [RCV002210060] Chr18:55585364 [GRCh38]
Chr18:53252595 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.656-5T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002106118] Chr18:55275757 [GRCh38]
Chr18:52942988 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1023T>C (p.Phe341=) single nucleotide variant Pitt-Hopkins syndrome [RCV002214767] Chr18:55259995 [GRCh38]
Chr18:52927226 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.5A>T (p.His2Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002133825] Chr18:55587112 [GRCh38]
Chr18:53254343 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1412A>G (p.Gln471Arg) single nucleotide variant Inborn genetic diseases [RCV003250454]|Pitt-Hopkins syndrome [RCV002215964] Chr18:55234622 [GRCh38]
Chr18:52901853 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1486+15C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002151310] Chr18:55234533 [GRCh38]
Chr18:52901764 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.499+16G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002189948] Chr18:55350858 [GRCh38]
Chr18:53018089 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1486+19G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002213184] Chr18:55234529 [GRCh38]
Chr18:52901760 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.990+10T>G single nucleotide variant Pitt-Hopkins syndrome [RCV002171304] Chr18:55261456 [GRCh38]
Chr18:52928687 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.783A>G (p.Glu261=) single nucleotide variant Pitt-Hopkins syndrome [RCV002132907]|not specified [RCV005058077] Chr18:55275625 [GRCh38]
Chr18:52942856 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.655+11G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002205723] Chr18:55279540 [GRCh38]
Chr18:52946771 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.837G>A (p.Pro279=) single nucleotide variant Pitt-Hopkins syndrome [RCV002087454] Chr18:55269916 [GRCh38]
Chr18:52937147 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.304+13T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002080585] Chr18:55461006 [GRCh38]
Chr18:53128237 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1161A>G (p.Glu387=) single nucleotide variant Pitt-Hopkins syndrome [RCV002194695] Chr18:55254686 [GRCh38]
Chr18:52921917 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1608C>T (p.Asp536=) single nucleotide variant Inborn genetic diseases [RCV002391233]|Pitt-Hopkins syndrome [RCV002096075]|not provided [RCV003418376] Chr18:55232550 [GRCh38]
Chr18:52899781 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.549+28099AG[2] microsatellite not provided [RCV002214076] Chr18:55322255..55322256 [GRCh38]
Chr18:52989486..52989487 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV002124646] Chr18:55228272 [GRCh38]
Chr18:52895503 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.432T>G (p.Pro144=) single nucleotide variant Pitt-Hopkins syndrome [RCV002149561] Chr18:55350941 [GRCh38]
Chr18:53018172 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.789+8A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002076629] Chr18:55275611 [GRCh38]
Chr18:52942842 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-20A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002172650] Chr18:55464157 [GRCh38]
Chr18:53131388 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.900C>A (p.Ala300=) single nucleotide variant Pitt-Hopkins syndrome [RCV002213570] Chr18:55269853 [GRCh38]
Chr18:52937084 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-13C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002099577] Chr18:55464150 [GRCh38]
Chr18:53131381 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.237G>A (p.Trp79Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV002243597] Chr18:55631347 [GRCh38]
Chr18:53298578 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1059A>T (p.Pro353=) single nucleotide variant Pitt-Hopkins syndrome [RCV002082106] Chr18:55259959 [GRCh38]
Chr18:52927190 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-9C>A single nucleotide variant Pitt-Hopkins syndrome [RCV002154037] Chr18:55228370 [GRCh38]
Chr18:52895601 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del) deletion Pitt-Hopkins syndrome [RCV002246764] Chr18:55229025..55229027 [GRCh38]
Chr18:52896256..52896258 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.922+15del deletion Pitt-Hopkins syndrome [RCV002183902] Chr18:55269816 [GRCh38]
Chr18:52937047 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.165C>T (p.Cys55=) single nucleotide variant See cases [RCV002252422] Chr18:55635733 [GRCh38]
Chr18:53302964 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1419G>A (p.Pro473=) single nucleotide variant Pitt-Hopkins syndrome [RCV002182975] Chr18:55234615 [GRCh38]
Chr18:52901846 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.991-18dup duplication Pitt-Hopkins syndrome [RCV002138292] Chr18:55260044..55260045 [GRCh38]
Chr18:52927275..52927276 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.73-11G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002156937] Chr18:55585363 [GRCh38]
Chr18:53252594 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1069+19C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002143383] Chr18:55259930 [GRCh38]
Chr18:52927161 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.990+19T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002099061] Chr18:55261447 [GRCh38]
Chr18:52928678 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1487-6C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002155496] Chr18:55232677 [GRCh38]
Chr18:52899908 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1725C>T (p.Ala575=) single nucleotide variant Pitt-Hopkins syndrome [RCV002158037] Chr18:55229001 [GRCh38]
Chr18:52896232 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.186A>T (p.Gly62=) single nucleotide variant Pitt-Hopkins syndrome [RCV002156517] Chr18:55464097 [GRCh38]
Chr18:53131328 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.789+17C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002122037] Chr18:55275602 [GRCh38]
Chr18:52942833 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1524T>C (p.Ser508=) single nucleotide variant Pitt-Hopkins syndrome [RCV002138171] Chr18:55232634 [GRCh38]
Chr18:52899865 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-13T>C single nucleotide variant Pitt-Hopkins syndrome [RCV002118662] Chr18:55228374 [GRCh38]
Chr18:52895605 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1487-14C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002202815] Chr18:55232685 [GRCh38]
Chr18:52899916 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1649+11A>G single nucleotide variant not specified [RCV004783492] Chr18:55232498 [GRCh38]
Chr18:52899729 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1565dup (p.Asn522fs) duplication not provided [RCV004787522] Chr18:55232592..55232593 [GRCh38]
Chr18:52899823..52899824 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV003115831]|not provided [RCV003318750] Chr18:55234664 [GRCh38]
Chr18:52901895 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NC_000018.9:g.(?_52927160)_(53254347_?)del deletion Pitt-Hopkins syndrome [RCV003122505] Chr18:52927160..53254347 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_53017570)_(53254347_?)del deletion Pitt-Hopkins syndrome [RCV003122506] Chr18:53017570..53254347 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_53128230)_(53131388_?)del deletion Pitt-Hopkins syndrome [RCV003122507] Chr18:53128230..53131388 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_53017570)_(53070769_?)del deletion Pitt-Hopkins syndrome [RCV003122508] Chr18:53017570..53070769 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_52895456)_(53254347_?)del deletion Pitt-Hopkins syndrome [RCV003122509] Chr18:52895456..53254347 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1144_1145del (p.Leu382fs) deletion not provided [RCV003123198] Chr18:55257316..55257317 [GRCh38]
Chr18:52924547..52924548 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1848C>A (p.Ala616=) single nucleotide variant Pitt-Hopkins syndrome [RCV003121607] Chr18:55228878 [GRCh38]
Chr18:52896109 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.291T>C (p.Asn97=) single nucleotide variant Pitt-Hopkins syndrome [RCV003121684] Chr18:55461032 [GRCh38]
Chr18:53128263 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1417_1418delinsT (p.Pro473fs) indel Pitt-Hopkins syndrome [RCV004797289] Chr18:55234616..55234617 [GRCh38]
Chr18:52901847..52901848 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1838A>G (p.Gln613Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV004776533] Chr18:55228888 [GRCh38]
Chr18:52896119 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1420del (p.Val474fs) deletion Pitt-Hopkins syndrome [RCV004784995] Chr18:55234614 [GRCh38]
Chr18:52901845 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1424dup (p.Gln476fs) duplication Pitt-Hopkins syndrome [RCV004789872] Chr18:55234609..55234610 [GRCh38]
Chr18:52901840..52901841 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1879+1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002273054] Chr18:55228846 [GRCh38]
Chr18:52896077 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV002246767] Chr18:55403496 [GRCh38]
Chr18:53070727 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.35C>T (p.Thr12Met) single nucleotide variant Pitt-Hopkins syndrome [RCV005095981]|Seizure [RCV002273870] Chr18:55587082 [GRCh38]
Chr18:53254313 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV002246765] Chr18:55234548 [GRCh38]
Chr18:52901779 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.593C>T (p.Ser198Leu) single nucleotide variant not provided [RCV002254078] Chr18:55279613 [GRCh38]
Chr18:52946844 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_001083962.2(TCF4):c.990+3G>T single nucleotide variant not provided [RCV003129216] Chr18:55261463 [GRCh38]
Chr18:52928694 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1145T>C (p.Leu382Ser) single nucleotide variant Inborn genetic diseases [RCV004673868]|not provided [RCV003233126] Chr18:55257316 [GRCh38]
Chr18:52924547 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1069+30A>G single nucleotide variant not provided [RCV002263124] Chr18:55259919 [GRCh38]
Chr18:52927150 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1866G>C (p.Glu622Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV002273291] Chr18:55228860 [GRCh38]
Chr18:52896091 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1307G>C (p.Gly436Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV005096011]|not provided [RCV002279034] Chr18:55254540 [GRCh38]
Chr18:52921771 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1069+1052G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002285253] Chr18:55258897 [GRCh38]
Chr18:52926128 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1351-1G>C single nucleotide variant Pitt-Hopkins syndrome [RCV002288341] Chr18:55234684 [GRCh38]
Chr18:52901915 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001243226.3(TCF4):c.286+1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002284996] Chr18:55631297 [GRCh38]
Chr18:53298528 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.923-11del deletion not provided [RCV002285799] Chr18:55261544 [GRCh38]
Chr18:52928775 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.549A>T (p.Ser183=) single nucleotide variant not provided [RCV002274688] Chr18:55350359 [GRCh38]
Chr18:53017590 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002471939] Chr18:55257349 [GRCh38]
Chr18:52924580 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3 copy number gain not provided [RCV002472441] Chr18:51223984..53001044 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:52023322-53332606)x1 copy number loss Pitt-Hopkins syndrome [RCV002472353] Chr18:52023322..53332606 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.107G>C (p.Gly36Ala) single nucleotide variant Inborn genetic diseases [RCV002417483] Chr18:55585318 [GRCh38]
Chr18:53252549 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1069+1G>C single nucleotide variant Pitt-Hopkins syndrome [RCV002465448] Chr18:55259948 [GRCh38]
Chr18:52927179 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.387T>C (p.Gly129=) single nucleotide variant Inborn genetic diseases [RCV002357352]|TCF4-related disorder [RCV003926371] Chr18:55350986 [GRCh38]
Chr18:53018217 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.82C>T (p.Pro28Ser) single nucleotide variant Inborn genetic diseases [RCV002430332] Chr18:55585343 [GRCh38]
Chr18:53252574 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1474G>C (p.Asp492His) single nucleotide variant not provided [RCV003231671] Chr18:55234560 [GRCh38]
Chr18:52901791 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV002296044] Chr18:55350907 [GRCh38]
Chr18:53018138 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1056T>C (p.Pro352=) single nucleotide variant Inborn genetic diseases [RCV002399040] Chr18:55259962 [GRCh38]
Chr18:52927193 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.692G>A (p.Ser231Asn) single nucleotide variant Inborn genetic diseases [RCV002378126] Chr18:55275716 [GRCh38]
Chr18:52942947 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser) single nucleotide variant Inborn genetic diseases [RCV002450449]|Pitt-Hopkins syndrome [RCV003098870] Chr18:55461081 [GRCh38]
Chr18:53128312 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs) deletion Inborn genetic diseases [RCV002389166] Chr18:55234631..55234635 [GRCh38]
Chr18:52901862..52901866 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.496A>G (p.Met166Val) single nucleotide variant Pitt-Hopkins syndrome [RCV002301752] Chr18:55350877 [GRCh38]
Chr18:53018108 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.991-1G>A single nucleotide variant Inborn genetic diseases [RCV002382813] Chr18:55260028 [GRCh38]
Chr18:52927259 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.146-6C>T single nucleotide variant not provided [RCV002305959] Chr18:55464143 [GRCh38]
Chr18:53131374 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.450G>A (p.Gln150=) single nucleotide variant Inborn genetic diseases [RCV002339898] Chr18:55350923 [GRCh38]
Chr18:53018154 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.569G>A (p.Ser190Asn) single nucleotide variant Inborn genetic diseases [RCV002347534] Chr18:55279637 [GRCh38]
Chr18:52946868 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1070-2A>G single nucleotide variant Inborn genetic diseases [RCV002413282] Chr18:55257393 [GRCh38]
Chr18:52924624 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1518CTC[1] (p.Ser508del) microsatellite Inborn genetic diseases [RCV002392426] Chr18:55232635..55232637 [GRCh38]
Chr18:52899866..52899868 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV002302359] Chr18:55254544 [GRCh38]
Chr18:52921775 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV002302382] Chr18:55275698 [GRCh38]
Chr18:52942929 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs) microsatellite Inborn genetic diseases [RCV002460210] Chr18:55257318..55257319 [GRCh38]
Chr18:52924549..52924550 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002302436] Chr18:55254681 [GRCh38]
Chr18:52921912 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.972G>A (p.Leu324=) single nucleotide variant Pitt-Hopkins syndrome [RCV002863332] Chr18:55261484 [GRCh38]
Chr18:52928715 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del) deletion Pitt-Hopkins syndrome [RCV002881513] Chr18:55261509..55261517 [GRCh38]
Chr18:52928740..52928748 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.305-4G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002994369] Chr18:55403522 [GRCh38]
Chr18:53070753 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV002730393] Chr18:55350399 [GRCh38]
Chr18:53017630 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1842G>C (p.Ala614=) single nucleotide variant Pitt-Hopkins syndrome [RCV003076554] Chr18:55228884 [GRCh38]
Chr18:52896115 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1944G>A (p.Glu648=) single nucleotide variant Pitt-Hopkins syndrome [RCV002734887] Chr18:55228297 [GRCh38]
Chr18:52895528 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.310A>G (p.Thr104Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV002819931] Chr18:55403513 [GRCh38]
Chr18:53070744 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-15G>T single nucleotide variant Pitt-Hopkins syndrome [RCV003073704] Chr18:55279671 [GRCh38]
Chr18:52946902 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1351-10G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002903056] Chr18:55234693 [GRCh38]
Chr18:52901924 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1942G>C (p.Glu648Gln) single nucleotide variant Inborn genetic diseases [RCV002841298] Chr18:55228299 [GRCh38]
Chr18:52895530 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1374C>T (p.Gly458=) single nucleotide variant Pitt-Hopkins syndrome [RCV002613671] Chr18:55234660 [GRCh38]
Chr18:52901891 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.471A>G (p.Arg157=) single nucleotide variant Pitt-Hopkins syndrome [RCV003032771] Chr18:55350902 [GRCh38]
Chr18:53018133 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1879+10G>T single nucleotide variant Pitt-Hopkins syndrome [RCV002686383] Chr18:55228837 [GRCh38]
Chr18:52896068 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.979G>C (p.Ala327Pro) single nucleotide variant not provided [RCV002511399] Chr18:55261477 [GRCh38]
Chr18:52928708 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.2003T>G (p.Met668Arg) single nucleotide variant Inborn genetic diseases [RCV002687823] Chr18:55228238 [GRCh38]
Chr18:52895469 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.189A>G (p.Gly63=) single nucleotide variant Pitt-Hopkins syndrome [RCV003013928] Chr18:55464094 [GRCh38]
Chr18:53131325 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1007A>G (p.His336Arg) single nucleotide variant not provided [RCV002462418] Chr18:55260011 [GRCh38]
Chr18:52927242 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV002463402] Chr18:55257356 [GRCh38]
Chr18:52924587 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs) duplication Pitt-Hopkins syndrome [RCV002842393] Chr18:55228288..55228289 [GRCh38]
Chr18:52895519..52895520 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.550-22814A>G single nucleotide variant TCF4-related disorder [RCV004741298]|not provided [RCV002511897] Chr18:55302470 [GRCh38]
Chr18:52969701 [GRCh37]
Chr18:18q21.2
benign|likely benign
NM_001083962.2(TCF4):c.1650-10T>G single nucleotide variant Pitt-Hopkins syndrome [RCV002927799] Chr18:55229086 [GRCh38]
Chr18:52896317 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV002694972] Chr18:55464087 [GRCh38]
Chr18:53131318 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV002740323] Chr18:55229061 [GRCh38]
Chr18:52896292 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.369+4A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002824378] Chr18:55403450 [GRCh38]
Chr18:53070681 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.789+15C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002889842] Chr18:55275604 [GRCh38]
Chr18:52942835 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV002923776] Chr18:55279602 [GRCh38]
Chr18:52946833 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV003055628] Chr18:55275627 [GRCh38]
Chr18:52942858 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV003002835] Chr18:55234574 [GRCh38]
Chr18:52901805 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.798A>G (p.Pro266=) single nucleotide variant Pitt-Hopkins syndrome [RCV002923372] Chr18:55269955 [GRCh38]
Chr18:52937186 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV002825538] Chr18:55269963 [GRCh38]
Chr18:52937194 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1740G>C (p.Arg580=) single nucleotide variant Pitt-Hopkins syndrome [RCV002923070] Chr18:55228986 [GRCh38]
Chr18:52896217 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1674A>C (p.Thr558=) single nucleotide variant Pitt-Hopkins syndrome [RCV002659460] Chr18:55229052 [GRCh38]
Chr18:52896283 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV003054082] Chr18:55269875 [GRCh38]
Chr18:52937106 [GRCh37]
Chr18:18q21.2
benign|uncertain significance
NM_001083962.2(TCF4):c.1578G>C (p.Thr526=) single nucleotide variant Pitt-Hopkins syndrome [RCV003053722] Chr18:55232580 [GRCh38]
Chr18:52899811 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1069+20A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002976586] Chr18:55259929 [GRCh38]
Chr18:52927160 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV003054661] Chr18:55228237 [GRCh38]
Chr18:52895468 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003035474] Chr18:55279602 [GRCh38]
Chr18:52946833 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.129A>T (p.Gly43=) single nucleotide variant Pitt-Hopkins syndrome [RCV002619527] Chr18:55585296 [GRCh38]
Chr18:53252527 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1062T>C (p.Ser354=) single nucleotide variant Pitt-Hopkins syndrome [RCV002695331]|not specified [RCV003403890] Chr18:55259956 [GRCh38]
Chr18:52927187 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.81A>C (p.Ser27=) single nucleotide variant Pitt-Hopkins syndrome [RCV002867728] Chr18:55585344 [GRCh38]
Chr18:53252575 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1842G>A (p.Ala614=) single nucleotide variant Pitt-Hopkins syndrome [RCV003078265] Chr18:55228884 [GRCh38]
Chr18:52896115 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.666C>T (p.His222=) single nucleotide variant Pitt-Hopkins syndrome [RCV002948525] Chr18:55275742 [GRCh38]
Chr18:52942973 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002886710] Chr18:55403494 [GRCh38]
Chr18:53070725 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003018960] Chr18:55275632 [GRCh38]
Chr18:52942863 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV002820850] Chr18:55279651 [GRCh38]
Chr18:52946882 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1147-3C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002706126] Chr18:55254703 [GRCh38]
Chr18:52921934 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.207+8T>A single nucleotide variant Pitt-Hopkins syndrome [RCV002735734] Chr18:55464068 [GRCh38]
Chr18:53131299 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-6C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002948484] Chr18:55228367 [GRCh38]
Chr18:52895598 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.649A>G (p.Met217Val) single nucleotide variant Pitt-Hopkins syndrome [RCV003053525] Chr18:55279557 [GRCh38]
Chr18:52946788 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1170A>G (p.Leu390=) single nucleotide variant Pitt-Hopkins syndrome [RCV002790968] Chr18:55254677 [GRCh38]
Chr18:52921908 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV002828533] Chr18:55279572 [GRCh38]
Chr18:52946803 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs) insertion Pitt-Hopkins syndrome [RCV002790025] Chr18:55269912..55269913 [GRCh38]
Chr18:52937143..52937144 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro) single nucleotide variant Inborn genetic diseases [RCV005288806]|Pitt-Hopkins syndrome [RCV002741559] Chr18:55254517 [GRCh38]
Chr18:52921748 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val) single nucleotide variant Pitt-Hopkins syndrome [RCV002985529] Chr18:55254559 [GRCh38]
Chr18:52921790 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.879del (p.Ser294fs) deletion Pitt-Hopkins syndrome [RCV002508173] Chr18:55269874 [GRCh38]
Chr18:52937105 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.991-18del deletion Pitt-Hopkins syndrome [RCV002624931] Chr18:55260045 [GRCh38]
Chr18:52927276 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1486+14A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003005374] Chr18:55234534 [GRCh38]
Chr18:52901765 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.72+17G>T single nucleotide variant Pitt-Hopkins syndrome [RCV003041033] Chr18:55587028 [GRCh38]
Chr18:53254259 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1503A>G (p.Leu501=) single nucleotide variant Pitt-Hopkins syndrome [RCV003024425]|not provided [RCV003456541] Chr18:55232655 [GRCh38]
Chr18:52899886 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV003005151] Chr18:55228924 [GRCh38]
Chr18:52896155 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1107C>T (p.Ala369=) single nucleotide variant Pitt-Hopkins syndrome [RCV003023376] Chr18:55257354 [GRCh38]
Chr18:52924585 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.93C>T (p.Ser31=) single nucleotide variant Pitt-Hopkins syndrome [RCV003040836] Chr18:55585332 [GRCh38]
Chr18:53252563 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV003024873] Chr18:55257362 [GRCh38]
Chr18:52924593 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV002745248] Chr18:55257328 [GRCh38]
Chr18:52924559 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.305-3C>G single nucleotide variant Pitt-Hopkins syndrome [RCV002875665] Chr18:55403521 [GRCh38]
Chr18:53070752 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.370-18C>A single nucleotide variant Pitt-Hopkins syndrome [RCV003009281] Chr18:55351021 [GRCh38]
Chr18:53018252 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-20dup duplication Pitt-Hopkins syndrome [RCV003044534] Chr18:55279675..55279676 [GRCh38]
Chr18:52946906..52946907 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.84T>G (p.Pro28=) single nucleotide variant Pitt-Hopkins syndrome [RCV002646633] Chr18:55585341 [GRCh38]
Chr18:53252572 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV003091829] Chr18:55275693 [GRCh38]
Chr18:52942924 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.854G>A (p.Arg285His) single nucleotide variant Pitt-Hopkins syndrome [RCV003049275] Chr18:55269899 [GRCh38]
Chr18:52937130 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.913A>G (p.Ser305Gly) single nucleotide variant Inborn genetic diseases [RCV002719286]|Pitt-Hopkins syndrome [RCV005099607] Chr18:55269840 [GRCh38]
Chr18:52937071 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.624C>T (p.Thr208=) single nucleotide variant Pitt-Hopkins syndrome [RCV002651195] Chr18:55279582 [GRCh38]
Chr18:52946813 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV003064520] Chr18:55228859 [GRCh38]
Chr18:52896090 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.585T>C (p.Asn195=) single nucleotide variant Pitt-Hopkins syndrome [RCV002714847] Chr18:55279621 [GRCh38]
Chr18:52946852 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.327C>T (p.Tyr109=) single nucleotide variant Pitt-Hopkins syndrome [RCV002791969] Chr18:55403496 [GRCh38]
Chr18:53070727 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1628C>T (p.Ser543Leu) single nucleotide variant Inborn genetic diseases [RCV002808945] Chr18:55232530 [GRCh38]
Chr18:52899761 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV003028851] Chr18:55229066 [GRCh38]
Chr18:52896297 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.550-20_550-17del deletion Pitt-Hopkins syndrome [RCV003088180] Chr18:55279673..55279676 [GRCh38]
Chr18:52946904..52946907 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.923-1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV002899371] Chr18:55261534 [GRCh38]
Chr18:52928765 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.922+20A>G single nucleotide variant Pitt-Hopkins syndrome [RCV002629052] Chr18:55269811 [GRCh38]
Chr18:52937042 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.414C>A (p.Thr138=) single nucleotide variant Pitt-Hopkins syndrome [RCV003030929] Chr18:55350959 [GRCh38]
Chr18:53018190 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-11C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002966472] Chr18:55464148 [GRCh38]
Chr18:53131379 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV003091177] Chr18:55350895 [GRCh38]
Chr18:53018126 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1976C>T (p.Pro659Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002811049] Chr18:55228265 [GRCh38]
Chr18:52895496 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.991-11A>T single nucleotide variant Pitt-Hopkins syndrome [RCV002601406] Chr18:55260038 [GRCh38]
Chr18:52927269 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.370-17C>T single nucleotide variant Pitt-Hopkins syndrome [RCV003064947] Chr18:55351020 [GRCh38]
Chr18:53018251 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV002716844] Chr18:55585315 [GRCh38]
Chr18:53252546 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV002645870] Chr18:55461108 [GRCh38]
Chr18:53128339 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.543A>C (p.Pro181=) single nucleotide variant Pitt-Hopkins syndrome [RCV002899548] Chr18:55350365 [GRCh38]
Chr18:53017596 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV003046915] Chr18:55403503 [GRCh38]
Chr18:53070734 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003047017] Chr18:55350921 [GRCh38]
Chr18:53018152 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs) insertion Pitt-Hopkins syndrome [RCV002810047] Chr18:55257316..55257317 [GRCh38]
Chr18:52924547..52924548 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.550-6C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002597403] Chr18:55279662 [GRCh38]
Chr18:52946893 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1734T>C (p.Arg578=) single nucleotide variant Pitt-Hopkins syndrome [RCV002806504] Chr18:55228992 [GRCh38]
Chr18:52896223 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.684C>T (p.Ser228=) single nucleotide variant Pitt-Hopkins syndrome [RCV003032186] Chr18:55275724 [GRCh38]
Chr18:52942955 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1487-14C>T single nucleotide variant Pitt-Hopkins syndrome [RCV003066310] Chr18:55232685 [GRCh38]
Chr18:52899916 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.500-13C>T single nucleotide variant Pitt-Hopkins syndrome [RCV003067976] Chr18:55350421 [GRCh38]
Chr18:53017652 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.369+17G>C single nucleotide variant Pitt-Hopkins syndrome [RCV003052271] Chr18:55403437 [GRCh38]
Chr18:53070668 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1263C>T (p.Ile421=) single nucleotide variant Pitt-Hopkins syndrome [RCV002606704] Chr18:55254584 [GRCh38]
Chr18:52921815 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1896G>C (p.Pro632=) single nucleotide variant Pitt-Hopkins syndrome [RCV003071950] Chr18:55228345 [GRCh38]
Chr18:52895576 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.146-13C>T single nucleotide variant Pitt-Hopkins syndrome [RCV002603133] Chr18:55464150 [GRCh38]
Chr18:53131381 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1739G>T (p.Arg580Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV004796418] Chr18:55228987 [GRCh38]
Chr18:52896218 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.119T>C (p.Leu40Ser) single nucleotide variant Inborn genetic diseases [RCV003209200] Chr18:55585306 [GRCh38]
Chr18:53252537 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.784_785insCA (p.Arg262fs) insertion Pitt-Hopkins syndrome [RCV003223537] Chr18:55275623..55275624 [GRCh38]
Chr18:52942854..52942855 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.898del (p.Ala300fs) deletion not provided [RCV003131709] Chr18:55269855 [GRCh38]
Chr18:52937086 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.959C>T (p.Thr320Ile) single nucleotide variant not provided [RCV003140942] Chr18:55261497 [GRCh38]
Chr18:52928728 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1207_1208delinsAT (p.His403Ile) indel not provided [RCV003140943] Chr18:55254639..55254640 [GRCh38]
Chr18:52921870..52921871 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1061C>G (p.Ser354Cys) single nucleotide variant Inborn genetic diseases [RCV003186583] Chr18:55259957 [GRCh38]
Chr18:52927188 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.345A>T (p.Glu115Asp) single nucleotide variant not provided [RCV003229347] Chr18:55403478 [GRCh38]
Chr18:53070709 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1789C>G (p.Leu597Val) single nucleotide variant not provided [RCV003227315] Chr18:55228937 [GRCh38]
Chr18:52896168 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.497T>C (p.Met166Thr) single nucleotide variant not provided [RCV003227392] Chr18:55350876 [GRCh38]
Chr18:53018107 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.443A>T (p.Tyr148Phe) single nucleotide variant not provided [RCV003321262] Chr18:55350930 [GRCh38]
Chr18:53018161 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1608C>G (p.Asp536Glu) single nucleotide variant not provided [RCV003319868] Chr18:55232550 [GRCh38]
Chr18:52899781 [GRCh37]
Chr18:18q21.2
likely benign|uncertain significance
NM_001083962.2(TCF4):c.1017C>G (p.Asn339Lys) single nucleotide variant not provided [RCV005367974] Chr18:55260001 [GRCh38]
Chr18:52927232 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.655+54C>T single nucleotide variant not provided [RCV003322141] Chr18:55279497 [GRCh38]
Chr18:52946728 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2:c.304+24622_369+779del deletion Pitt-Hopkins syndrome [RCV003330244]   pathogenic
NM_001083962.2(TCF4):c.305-102G>A single nucleotide variant not provided [RCV003326986] Chr18:55403620 [GRCh38]
Chr18:53070851 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.655G>C (p.Asp219His) single nucleotide variant Pitt-Hopkins syndrome [RCV003334374] Chr18:55279551 [GRCh38]
Chr18:52946782 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_003199.2(TCF4):c.-312dup duplication not provided [RCV003421649] Chr18:55588322..55588323 [GRCh38]
Chr18:53255553..53255554 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.305-18943A>G single nucleotide variant not provided [RCV003423091] Chr18:55422461 [GRCh38]
Chr18:53089692 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003778317]|TCF4-related disorder [RCV003419256] Chr18:55279573 [GRCh38]
Chr18:52946804 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs) duplication Corneal dystrophy, Fuchs endothelial, 3 [RCV003445349] Chr18:55275631..55275632 [GRCh38]
Chr18:52942862..52942863 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.549+28682G>A single nucleotide variant not provided [RCV003457002] Chr18:55321677 [GRCh38]
Chr18:52988908 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3 copy number gain not provided [RCV003485185] Chr18:51003914..53456476 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1763del (p.Phe588fs) deletion TCF4-related disorder [RCV003402161] Chr18:55228963 [GRCh38]
Chr18:52896194 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1056T>A (p.Pro352=) single nucleotide variant not provided [RCV003423090] Chr18:55259962 [GRCh38]
Chr18:52927193 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1057C>A (p.Pro353Thr) single nucleotide variant not provided [RCV003429155] Chr18:55259961 [GRCh38]
Chr18:52927192 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.498G>A (p.Met166Ile) single nucleotide variant not provided [RCV003443840] Chr18:55350875 [GRCh38]
Chr18:53018106 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.415C>G (p.Leu139Val) single nucleotide variant TCF4-related disorder [RCV003391256] Chr18:55350958 [GRCh38]
Chr18:53018189 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1238del (p.Gly413fs) deletion TCF4-related disorder [RCV003399861] Chr18:55254609 [GRCh38]
Chr18:52921840 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001243226.3(TCF4):c.114A>G (p.Ser38=) single nucleotide variant not provided [RCV003421650] Chr18:55635784 [GRCh38]
Chr18:53303015 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV003423092] Chr18:55635711 [GRCh38]
Chr18:53302942 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1912A>G (p.Lys638Glu) single nucleotide variant not provided [RCV003443613] Chr18:55228329 [GRCh38]
Chr18:52895560 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1487-2A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003448634] Chr18:55232673 [GRCh38]
Chr18:52899904 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1525G>A (p.Gly509Ser) single nucleotide variant TCF4-related disorder [RCV003416714] Chr18:55232633 [GRCh38]
Chr18:52899864 [GRCh37]
Chr18:18q21.2
uncertain significance
Single allele deletion not provided [RCV003448705] Chr18:53218644..54488400 [GRCh37]
Chr18:18q21.2-21.31
pathogenic
NM_001083962.2(TCF4):c.320G>T (p.Gly107Val) single nucleotide variant TCF4-related disorder [RCV003402340] Chr18:55403503 [GRCh38]
Chr18:53070734 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001243226.3(TCF4):c.102A>G (p.Glu34=) single nucleotide variant not provided [RCV003423093] Chr18:55635796 [GRCh38]
Chr18:53303027 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.304+1G>A single nucleotide variant not provided [RCV003442342] Chr18:55461018 [GRCh38]
Chr18:53128249 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.*266C>G single nucleotide variant not provided [RCV003413455] Chr18:55227769 [GRCh38]
Chr18:52895000 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.369+1365del deletion not provided [RCV003413456] Chr18:55402089 [GRCh38]
Chr18:53069320 [GRCh37]
Chr18:18q21.2
benign
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV003508403]|not provided [RCV004794647] Chr18:55234558 [GRCh38]
Chr18:52901789 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys) single nucleotide variant Pitt-Hopkins syndrome [RCV003508734] Chr18:55228970 [GRCh38]
Chr18:52896201 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.499+18T>C single nucleotide variant Pitt-Hopkins syndrome [RCV003508843] Chr18:55350856 [GRCh38]
Chr18:53018087 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.500-16C>G single nucleotide variant Pitt-Hopkins syndrome [RCV003508886] Chr18:55350424 [GRCh38]
Chr18:53017655 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003507538] Chr18:55234614 [GRCh38]
Chr18:52901845 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.117T>C (p.Ser39=) single nucleotide variant Pitt-Hopkins syndrome [RCV003507687] Chr18:55585308 [GRCh38]
Chr18:53252539 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr) single nucleotide variant Pitt-Hopkins syndrome [RCV003507818] Chr18:55269951 [GRCh38]
Chr18:52937182 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.975G>A (p.Gly325=) single nucleotide variant Pitt-Hopkins syndrome [RCV003507521] Chr18:55261481 [GRCh38]
Chr18:52928712 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys) single nucleotide variant Pitt-Hopkins syndrome [RCV003508414] Chr18:55461024 [GRCh38]
Chr18:53128255 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.499+12C>G single nucleotide variant not specified [RCV003489556] Chr18:55350862 [GRCh38]
Chr18:53018093 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV003507653] Chr18:55228990 [GRCh38]
Chr18:52896221 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.922+12A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003507597] Chr18:55269819 [GRCh38]
Chr18:52937050 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1785G>A (p.Val595=) single nucleotide variant Pitt-Hopkins syndrome [RCV003876306] Chr18:55228941 [GRCh38]
Chr18:52896172 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-20A>T single nucleotide variant Pitt-Hopkins syndrome [RCV003507881] Chr18:55279676 [GRCh38]
Chr18:52946907 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.789+9G>C single nucleotide variant Pitt-Hopkins syndrome [RCV003508233] Chr18:55275610 [GRCh38]
Chr18:52942841 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs) deletion Pitt-Hopkins syndrome [RCV003883361] Chr18:55403516..55403517 [GRCh38]
Chr18:53070747..53070748 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.552C>G (p.Val184=) single nucleotide variant Pitt-Hopkins syndrome [RCV003506920] Chr18:55279654 [GRCh38]
Chr18:52946885 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.370-3T>C single nucleotide variant Pitt-Hopkins syndrome [RCV003508798] Chr18:55351006 [GRCh38]
Chr18:53018237 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003507144] Chr18:55234683 [GRCh38]
Chr18:52901914 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr) single nucleotide variant Pitt-Hopkins syndrome [RCV003508127] Chr18:55257323 [GRCh38]
Chr18:52924554 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.73-16T>G single nucleotide variant Pitt-Hopkins syndrome [RCV003508162] Chr18:55585368 [GRCh38]
Chr18:53252599 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV003506826] Chr18:55275685 [GRCh38]
Chr18:52942916 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.708T>C (p.Pro236=) single nucleotide variant Pitt-Hopkins syndrome [RCV003507533] Chr18:55275700 [GRCh38]
Chr18:52942931 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV003507060] Chr18:55228996 [GRCh38]
Chr18:52896227 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1422del (p.Pro475fs) deletion Pitt-Hopkins syndrome [RCV003507537] Chr18:55234612 [GRCh38]
Chr18:52901843 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.207+16C>A single nucleotide variant Pitt-Hopkins syndrome [RCV003508601] Chr18:55464060 [GRCh38]
Chr18:53131291 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.923-20T>A single nucleotide variant Pitt-Hopkins syndrome [RCV003508553] Chr18:55261553 [GRCh38]
Chr18:52928784 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV003507089] Chr18:55234617 [GRCh38]
Chr18:52901848 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val) single nucleotide variant Pitt-Hopkins syndrome [RCV003508411] Chr18:55232650 [GRCh38]
Chr18:52899881 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1463A>G (p.Asn488Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003508530] Chr18:55234571 [GRCh38]
Chr18:52901802 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.118T>C (p.Leu40=) single nucleotide variant Pitt-Hopkins syndrome [RCV003508656] Chr18:55585307 [GRCh38]
Chr18:53252538 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.72+8A>C single nucleotide variant Pitt-Hopkins syndrome [RCV003507922] Chr18:55587037 [GRCh38]
Chr18:53254268 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs) insertion Pitt-Hopkins syndrome [RCV003883370] Chr18:55275697..55275698 [GRCh38]
Chr18:52942928..52942929 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.930A>G (p.Arg310=) single nucleotide variant Pitt-Hopkins syndrome [RCV003507596] Chr18:55261526 [GRCh38]
Chr18:52928757 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1833C>G (p.Leu611=) single nucleotide variant Pitt-Hopkins syndrome [RCV003508226] Chr18:55228893 [GRCh38]
Chr18:52896124 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1585del (p.Ser529fs) deletion Pitt-Hopkins syndrome [RCV003507882] Chr18:55232573 [GRCh38]
Chr18:52899804 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003508260] Chr18:55254613 [GRCh38]
Chr18:52921844 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val) single nucleotide variant Pitt-Hopkins syndrome [RCV003508033] Chr18:55261515 [GRCh38]
Chr18:52928746 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1351-10G>A single nucleotide variant Pitt-Hopkins syndrome [RCV003508409] Chr18:55234693 [GRCh38]
Chr18:52901924 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.500-11T>A single nucleotide variant Pitt-Hopkins syndrome [RCV003506851] Chr18:55350419 [GRCh38]
Chr18:53017650 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.991-18T>C single nucleotide variant Pitt-Hopkins syndrome [RCV003617777] Chr18:55260045 [GRCh38]
Chr18:52927276 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1069+8A>T single nucleotide variant Pitt-Hopkins syndrome [RCV003618107] Chr18:55259941 [GRCh38]
Chr18:52927172 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.2015A>G (p.Ter672=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618202] Chr18:55228226 [GRCh38]
Chr18:52895457 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.73-20T>C single nucleotide variant Pitt-Hopkins syndrome [RCV003618545] Chr18:55585372 [GRCh38]
Chr18:53252603 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV003618784] Chr18:55234671 [GRCh38]
Chr18:52901902 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val) single nucleotide variant Pitt-Hopkins syndrome [RCV003618915] Chr18:55269936 [GRCh38]
Chr18:52937167 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV003619090] Chr18:55461019 [GRCh38]
Chr18:53128250 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV003617408] Chr18:55350987 [GRCh38]
Chr18:53018218 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.345A>G (p.Glu115=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618243] Chr18:55403478 [GRCh38]
Chr18:53070709 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs) deletion Pitt-Hopkins syndrome [RCV003618376] Chr18:55254507..55254510 [GRCh38]
Chr18:52921738..52921741 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV003618914] Chr18:55269909 [GRCh38]
Chr18:52937140 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs) deletion Pitt-Hopkins syndrome [RCV003618362] Chr18:55254601..55254608 [GRCh38]
Chr18:52921832..52921839 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.208-13A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003617599] Chr18:55461128 [GRCh38]
Chr18:53128359 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV003618459] Chr18:55232537 [GRCh38]
Chr18:52899768 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.414C>T (p.Thr138=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618517] Chr18:55350959 [GRCh38]
Chr18:53018190 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1134C>G (p.Pro378=) single nucleotide variant Pitt-Hopkins syndrome [RCV003617356] Chr18:55257327 [GRCh38]
Chr18:52924558 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1879+4A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003617724] Chr18:55228843 [GRCh38]
Chr18:52896074 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV003618586] Chr18:55461064 [GRCh38]
Chr18:53128295 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.180G>A (p.Gly60=) single nucleotide variant Pitt-Hopkins syndrome [RCV003617775] Chr18:55464103 [GRCh38]
Chr18:53131334 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV003618588] Chr18:55228290 [GRCh38]
Chr18:52895521 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1206C>T (p.Asn402=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618125] Chr18:55254641 [GRCh38]
Chr18:52921872 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.21G>A (p.Met7Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV003618163] Chr18:55587096 [GRCh38]
Chr18:53254327 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.263A>G (p.His88Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV003856457] Chr18:55461060 [GRCh38]
Chr18:53128291 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His) single nucleotide variant Pitt-Hopkins syndrome [RCV003618742] Chr18:55229032 [GRCh38]
Chr18:52896263 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV003618745]|not provided [RCV004823183] Chr18:55260005 [GRCh38]
Chr18:52927236 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV003618460] Chr18:55261531 [GRCh38]
Chr18:52928762 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1593C>T (p.Asp531=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618966]|not provided [RCV004703329] Chr18:55232565 [GRCh38]
Chr18:52899796 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003617428] Chr18:55585352 [GRCh38]
Chr18:53252583 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV003617300] Chr18:55228956 [GRCh38]
Chr18:52896187 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.499+5_499+6dup duplication Pitt-Hopkins syndrome [RCV003618766] Chr18:55350867..55350868 [GRCh38]
Chr18:53018098..53018099 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV003618516] Chr18:55403464 [GRCh38]
Chr18:53070695 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV003618539] Chr18:55587086 [GRCh38]
Chr18:53254317 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-1G>A single nucleotide variant Pitt-Hopkins syndrome [RCV003617394] Chr18:55464138 [GRCh38]
Chr18:53131369 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1356G>T (p.Gly452=) single nucleotide variant Pitt-Hopkins syndrome [RCV003617457] Chr18:55234678 [GRCh38]
Chr18:52901909 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1038A>T (p.Ser346=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618849] Chr18:55259980 [GRCh38]
Chr18:52927211 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr) single nucleotide variant Pitt-Hopkins syndrome [RCV003617638] Chr18:55234674 [GRCh38]
Chr18:52901905 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.789G>A (p.Leu263=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618144] Chr18:55275619 [GRCh38]
Chr18:52942850 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV003618145] Chr18:55350999 [GRCh38]
Chr18:53018230 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.747A>G (p.Pro249=) single nucleotide variant Pitt-Hopkins syndrome [RCV003617700] Chr18:55275661 [GRCh38]
Chr18:52942892 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1524T>A (p.Ser508=) single nucleotide variant Pitt-Hopkins syndrome [RCV003619071] Chr18:55232634 [GRCh38]
Chr18:52899865 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1080T>C (p.Ala360=) single nucleotide variant Pitt-Hopkins syndrome [RCV003618214] Chr18:55257381 [GRCh38]
Chr18:52924612 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs) deletion Pitt-Hopkins syndrome [RCV003618256] Chr18:55587055..55587076 [GRCh38]
Chr18:53254286..53254307 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV003618870] Chr18:55275709 [GRCh38]
Chr18:52942940 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.499+15T>G single nucleotide variant Pitt-Hopkins syndrome [RCV003618871] Chr18:55350859 [GRCh38]
Chr18:53018090 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.145+18T>G single nucleotide variant Pitt-Hopkins syndrome [RCV003618615] Chr18:55585262 [GRCh38]
Chr18:53252493 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.72+12C>A single nucleotide variant Pitt-Hopkins syndrome [RCV003618618] Chr18:55587033 [GRCh38]
Chr18:53254264 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.990+16C>T single nucleotide variant Pitt-Hopkins syndrome [RCV003618335] Chr18:55261450 [GRCh38]
Chr18:52928681 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1649+9A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003617676] Chr18:55232500 [GRCh38]
Chr18:52899731 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1650-7C>G single nucleotide variant Pitt-Hopkins syndrome [RCV003617723] Chr18:55229083 [GRCh38]
Chr18:52896314 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV003618706] Chr18:55403476 [GRCh38]
Chr18:53070707 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr) single nucleotide variant Pitt-Hopkins syndrome [RCV003618714] Chr18:55232575 [GRCh38]
Chr18:52899806 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1578G>A (p.Thr526=) single nucleotide variant Pitt-Hopkins syndrome [RCV003865627] Chr18:55232580 [GRCh38]
Chr18:52899811 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys) single nucleotide variant Pitt-Hopkins syndrome [RCV003870586]|not provided [RCV005235738] Chr18:55464123 [GRCh38]
Chr18:53131354 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q21.2(chr18:53089162-53292031)x1 copy number loss not specified [RCV003986101] Chr18:53089162..53292031 [GRCh37]
Chr18:18q21.2
pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2(chr18:52978878-53100587)x1 copy number loss not specified [RCV003987281] Chr18:52978878..53100587 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.655+16T>C single nucleotide variant Pitt-Hopkins syndrome [RCV003864811] Chr18:55279535 [GRCh38]
Chr18:52946766 [GRCh37]
Chr18:18q21.2
likely benign
GRCh37/hg19 18q21.2(chr18:52903599-53084300)x1 copy number loss not specified [RCV003987277] Chr18:52903599..53084300 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.500-12A>G single nucleotide variant Pitt-Hopkins syndrome [RCV003860785] Chr18:55350420 [GRCh38]
Chr18:53017651 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.369+17G>A single nucleotide variant Pitt-Hopkins syndrome [RCV003864386] Chr18:55403437 [GRCh38]
Chr18:53070668 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.201G>T (p.Pro67=) single nucleotide variant Pitt-Hopkins syndrome [RCV003840949] Chr18:55464082 [GRCh38]
Chr18:53131313 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.655+20G>A single nucleotide variant Pitt-Hopkins syndrome [RCV003842554] Chr18:55279531 [GRCh38]
Chr18:52946762 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1696G>A (p.Glu566Lys) single nucleotide variant TCF4-related disorder [RCV003899024] Chr18:55229030 [GRCh38]
Chr18:52896261 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1134del (p.Leu379fs) deletion not provided [RCV003993354] Chr18:55257327 [GRCh38]
Chr18:52924558 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.831del (p.Pro278fs) deletion Pitt-Hopkins syndrome [RCV003989455] Chr18:55269922 [GRCh38]
Chr18:52937153 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter) single nucleotide variant Pitt-Hopkins syndrome [RCV003990256] Chr18:55232624 [GRCh38]
Chr18:52899855 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.305-103C>A single nucleotide variant TCF4-related disorder [RCV003929416] Chr18:55403621 [GRCh38]
Chr18:53070852 [GRCh37]
Chr18:18q21.2
likely benign
NM_001243226.3(TCF4):c.287-1404G>A single nucleotide variant TCF4-related disorder [RCV003942282] Chr18:55588540 [GRCh38]
Chr18:53255771 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.537T>A (p.Gly179=) single nucleotide variant TCF4-related disorder [RCV003899228] Chr18:55350371 [GRCh38]
Chr18:53017602 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.550-22790A>G single nucleotide variant TCF4-related disorder [RCV003921451] Chr18:55302446 [GRCh38]
Chr18:52969677 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.237C>G (p.His79Gln) single nucleotide variant Inborn genetic diseases [RCV004466484] Chr18:55461086 [GRCh38]
Chr18:53128317 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.991-5T>A single nucleotide variant Inborn genetic diseases [RCV004466487] Chr18:55260032 [GRCh38]
Chr18:52927263 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.305-150G>A single nucleotide variant not provided [RCV004585345] Chr18:55403668 [GRCh38]
Chr18:53070899 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV004555124]|not provided [RCV005429474] Chr18:55229020 [GRCh38]
Chr18:52896251 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs) duplication Inborn genetic diseases [RCV004466483] Chr18:55232606..55232607 [GRCh38]
Chr18:52899837..52899838 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter) single nucleotide variant Inborn genetic diseases [RCV004466485]|not provided [RCV004719408] Chr18:55350403 [GRCh38]
Chr18:53017634 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs) insertion Inborn genetic diseases [RCV004466486] Chr18:55279572..55279573 [GRCh38]
Chr18:52946803..52946804 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_52921708)_(53254347_?)del deletion Pitt-Hopkins syndrome [RCV004579815] Chr18:52921708..53254347 [GRCh37]
Chr18:18q21.2
pathogenic
NC_000018.9:g.(?_53017570)_(53131388_?)del deletion Pitt-Hopkins syndrome [RCV004579816] Chr18:53017570..53131388 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1609del (p.Asp537fs) deletion not provided [RCV004698162] Chr18:55232549 [GRCh38]
Chr18:52899780 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1915dup (p.Arg639fs) duplication Pitt-Hopkins syndrome [RCV004666682] Chr18:55228325..55228326 [GRCh38]
Chr18:52895556..52895557 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.891del (p.Pro298fs) deletion Pitt-Hopkins syndrome [RCV004595258] Chr18:55269862 [GRCh38]
Chr18:52937093 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1650-3C>G single nucleotide variant Pitt-Hopkins syndrome [RCV004595261] Chr18:55229079 [GRCh38]
Chr18:52896310 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.952del (p.Ser318fs) deletion not provided [RCV004697463] Chr18:55261504 [GRCh38]
Chr18:52928735 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1473G>C (p.Gln491His) single nucleotide variant Inborn genetic diseases [RCV004673637] Chr18:55234561 [GRCh38]
Chr18:52901792 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.317G>C (p.Arg106Thr) single nucleotide variant not provided [RCV004724149] Chr18:55403506 [GRCh38]
Chr18:53070737 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.256G>A (p.Gly86Arg) single nucleotide variant TCF4-related disorder [RCV004740845] Chr18:55461067 [GRCh38]
Chr18:53128298 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.328T>C (p.Ser110Pro) single nucleotide variant not provided [RCV004770772] Chr18:55403495 [GRCh38]
Chr18:53070726 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.533C>T (p.Pro178Leu) single nucleotide variant not provided [RCV004770818] Chr18:55350375 [GRCh38]
Chr18:53017606 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1669_1670delinsGG (p.Leu557Gly) indel not provided [RCV004766156] Chr18:55229056..55229057 [GRCh38]
Chr18:52896287..52896288 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.88G>T (p.Val30Leu) single nucleotide variant not provided [RCV004768204] Chr18:55585337 [GRCh38]
Chr18:53252568 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1778G>T (p.Arg593Leu) single nucleotide variant not provided [RCV004781081] Chr18:55228948 [GRCh38]
Chr18:52896179 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1775del (p.Gly592fs) deletion not provided [RCV004811061] Chr18:55228951 [GRCh38]
Chr18:52896182 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1719C>A (p.Asn573Lys) single nucleotide variant not specified [RCV004702988] Chr18:55229007 [GRCh38]
Chr18:52896238 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.-448T>G single nucleotide variant not specified [RCV004771445] Chr18:55588465 [GRCh38]
Chr18:53255696 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.721A>C (p.Met241Leu) single nucleotide variant not provided [RCV004762299] Chr18:55275687 [GRCh38]
Chr18:52942918 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1469C>T (p.Pro490Leu) single nucleotide variant not provided [RCV004762782] Chr18:55234565 [GRCh38]
Chr18:52901796 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1051T>A (p.Ser351Thr) single nucleotide variant not provided [RCV004772812] Chr18:55259967 [GRCh38]
Chr18:52927198 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1688C>T (p.Ala563Val) single nucleotide variant not provided [RCV004773326] Chr18:55229038 [GRCh38]
Chr18:52896269 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.688T>A (p.Ser230Thr) single nucleotide variant Pitt-Hopkins syndrome [RCV004764347] Chr18:55275720 [GRCh38]
Chr18:52942951 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1745G>C (p.Arg582Pro) single nucleotide variant Pitt-Hopkins syndrome [RCV004765103] Chr18:55228981 [GRCh38]
Chr18:52896212 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1166G>A (p.Arg389His) single nucleotide variant Pitt-Hopkins syndrome [RCV005104914]|not provided [RCV004762737] Chr18:55254681 [GRCh38]
Chr18:52921912 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.370-1G>A single nucleotide variant not provided [RCV004729347] Chr18:55351004 [GRCh38]
Chr18:53018235 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1753A>G (p.Asn585Asp) single nucleotide variant not provided [RCV004702080] Chr18:55228973 [GRCh38]
Chr18:52896204 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1236del (p.Gly413fs) deletion TCF4-related disorder [RCV004729877] Chr18:55254611 [GRCh38]
Chr18:52921842 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.85C>T (p.Pro29Ser) single nucleotide variant not provided [RCV004774066] Chr18:55585340 [GRCh38]
Chr18:53252571 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1901C>T (p.Ala634Val) single nucleotide variant not provided [RCV005052573] Chr18:55228340 [GRCh38]
Chr18:52895571 [GRCh37]
Chr18:18q21.2
uncertain significance
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 copy number gain not provided [RCV004819319] Chr18:19309942..78014123 [GRCh37]
Chr18:18q11.2-23
pathogenic
NM_001083962.2(TCF4):c.1793A>G (p.His598Arg) single nucleotide variant not provided [RCV004820562] Chr18:55228933 [GRCh38]
Chr18:52896164 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.804C>G (p.His268Gln) single nucleotide variant Inborn genetic diseases [RCV004971480] Chr18:55269949 [GRCh38]
Chr18:52937180 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.980C>A (p.Ala327Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV004820970] Chr18:55261476 [GRCh38]
Chr18:52928707 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1649+6A>G single nucleotide variant Pitt-Hopkins syndrome [RCV005026279] Chr18:55232503 [GRCh38]
Chr18:52899734 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.2004G>T (p.Met668Ile) single nucleotide variant Inborn genetic diseases [RCV004971481] Chr18:55228237 [GRCh38]
Chr18:52895468 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1714G>C (p.Ala572Pro) single nucleotide variant not provided [RCV004823637] Chr18:55229012 [GRCh38]
Chr18:52896243 [GRCh37]
Chr18:18q21.2
likely pathogenic|uncertain significance
NM_001083962.2(TCF4):c.1031A>G (p.Asn344Ser) single nucleotide variant Inborn genetic diseases [RCV004971479] Chr18:55259987 [GRCh38]
Chr18:52927218 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1351-11C>T single nucleotide variant Pitt-Hopkins syndrome [RCV005064626] Chr18:55234694 [GRCh38]
Chr18:52901925 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1491G>A (p.Met497Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV005171323] Chr18:55232667 [GRCh38]
Chr18:52899898 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1495C>G (p.Pro499Ala) single nucleotide variant Pitt-Hopkins syndrome [RCV005170030] Chr18:55232663 [GRCh38]
Chr18:52899894 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.376C>T (p.Leu126Phe) single nucleotide variant Pitt-Hopkins syndrome [RCV005105970] Chr18:55350997 [GRCh38]
Chr18:53018228 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.705G>C (p.Gln235His) single nucleotide variant not provided [RCV005054917] Chr18:55275703 [GRCh38]
Chr18:52942934 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.146-17T>C single nucleotide variant Pitt-Hopkins syndrome [RCV005060230] Chr18:55464154 [GRCh38]
Chr18:53131385 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.45G>A (p.Glu15=) single nucleotide variant Pitt-Hopkins syndrome [RCV005170795] Chr18:55587072 [GRCh38]
Chr18:53254303 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1732C>A (p.Arg578Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV005195091] Chr18:55228994 [GRCh38]
Chr18:52896225 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1754A>T (p.Asn585Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV005133895] Chr18:55228972 [GRCh38]
Chr18:52896203 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1256A>G (p.His419Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV005201678] Chr18:55254591 [GRCh38]
Chr18:52921822 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.830T>G (p.Leu277Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV005122209] Chr18:55269923 [GRCh38]
Chr18:52937154 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1712T>G (p.Met571Arg) single nucleotide variant not provided [RCV005250640] Chr18:55229014 [GRCh38]
Chr18:52896245 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1758G>A (p.Glu586=) single nucleotide variant Pitt-Hopkins syndrome [RCV005148667] Chr18:55228968 [GRCh38]
Chr18:52896199 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.489T>A (p.Ser163Arg) single nucleotide variant Pitt-Hopkins syndrome [RCV005114680] Chr18:55350884 [GRCh38]
Chr18:53018115 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.914G>A (p.Ser305Asn) single nucleotide variant Pitt-Hopkins syndrome [RCV005079877] Chr18:55269839 [GRCh38]
Chr18:52937070 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.641C>A (p.Ser214Tyr) single nucleotide variant not provided [RCV005250758] Chr18:55279565 [GRCh38]
Chr18:52946796 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.128G>T (p.Gly43Val) single nucleotide variant not specified [RCV005240059] Chr18:55585297 [GRCh38]
Chr18:53252528 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.253C>G (p.Leu85Val) single nucleotide variant Pitt-Hopkins syndrome [RCV005114681] Chr18:55461070 [GRCh38]
Chr18:53128301 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.19A>G (p.Met7Val) single nucleotide variant not provided [RCV005236361] Chr18:55587098 [GRCh38]
Chr18:53254329 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1879+19C>G single nucleotide variant Pitt-Hopkins syndrome [RCV005183992] Chr18:55228828 [GRCh38]
Chr18:52896059 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1880-1G>A single nucleotide variant not provided [RCV005367918] Chr18:55228362 [GRCh38]
Chr18:52895593 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.856del (p.Ser286fs) deletion Pitt-Hopkins syndrome [RCV005232620] Chr18:55269897 [GRCh38]
Chr18:52937128 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.474G>A (p.Arg158=) single nucleotide variant Pitt-Hopkins syndrome [RCV005118761] Chr18:55350899 [GRCh38]
Chr18:53018130 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1147-6C>T single nucleotide variant Pitt-Hopkins syndrome [RCV005198514] Chr18:55254706 [GRCh38]
Chr18:52921937 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1065C>G (p.Leu355=) single nucleotide variant not provided [RCV005243032] Chr18:55259953 [GRCh38]
Chr18:52927184 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.305-14G>T single nucleotide variant Pitt-Hopkins syndrome [RCV005119472] Chr18:55403532 [GRCh38]
Chr18:53070763 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1896G>A (p.Pro632=) single nucleotide variant Pitt-Hopkins syndrome [RCV005191425] Chr18:55228345 [GRCh38]
Chr18:52895576 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1243_1265dup (p.Gly423fs) duplication not provided [RCV005242887] Chr18:55254581..55254582 [GRCh38]
Chr18:52921812..52921813 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.180G>T (p.Gly60=) single nucleotide variant not provided [RCV005242914] Chr18:55464103 [GRCh38]
Chr18:53131334 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1486+5del deletion Pitt-Hopkins syndrome [RCV005199135] Chr18:55234543 [GRCh38]
Chr18:52901774 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.500-20G>C single nucleotide variant Pitt-Hopkins syndrome [RCV005199200] Chr18:55350428 [GRCh38]
Chr18:53017659 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.896C>T (p.Pro299Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV005117218] Chr18:55269857 [GRCh38]
Chr18:52937088 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1034C>T (p.Pro345Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV005142769] Chr18:55259984 [GRCh38]
Chr18:52927215 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1140C>G (p.His380Gln) single nucleotide variant Pitt-Hopkins syndrome [RCV005167642] Chr18:55257321 [GRCh38]
Chr18:52924552 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1095T>C (p.Asn365=) single nucleotide variant Pitt-Hopkins syndrome [RCV005207014] Chr18:55257366 [GRCh38]
Chr18:52924597 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1331C>G (p.Ala444Gly) single nucleotide variant Pitt-Hopkins syndrome [RCV005159435] Chr18:55254516 [GRCh38]
Chr18:52921747 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1707G>A (p.Arg569=) single nucleotide variant Pitt-Hopkins syndrome [RCV005186242] Chr18:55229019 [GRCh38]
Chr18:52896250 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1983G>A (p.Met661Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV005115351] Chr18:55228258 [GRCh38]
Chr18:52895489 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.543A>G (p.Pro181=) single nucleotide variant Pitt-Hopkins syndrome [RCV005135987] Chr18:55350365 [GRCh38]
Chr18:53017596 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.897T>A (p.Pro299=) single nucleotide variant Pitt-Hopkins syndrome [RCV005203291] Chr18:55269856 [GRCh38]
Chr18:52937087 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1176A>C (p.Arg392Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV005163172] Chr18:55254671 [GRCh38]
Chr18:52921902 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1301G>A (p.Gly434Asp) single nucleotide variant Pitt-Hopkins syndrome [RCV005142495] Chr18:55254546 [GRCh38]
Chr18:52921777 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1810_1815del (p.Pro604_Gln605del) deletion Pitt-Hopkins syndrome [RCV005199010] Chr18:55228911..55228916 [GRCh38]
Chr18:52896142..52896147 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1058C>T (p.Pro353Leu) single nucleotide variant Pitt-Hopkins syndrome [RCV005158991] Chr18:55259960 [GRCh38]
Chr18:52927191 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1351-18T>A single nucleotide variant Pitt-Hopkins syndrome [RCV005201636] Chr18:55234701 [GRCh38]
Chr18:52901932 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1879+15G>C single nucleotide variant Pitt-Hopkins syndrome [RCV005124574] Chr18:55228832 [GRCh38]
Chr18:52896063 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.316_317del (p.Arg106fs) deletion Pitt-Hopkins syndrome [RCV005113356] Chr18:55403506..55403507 [GRCh38]
Chr18:53070737..53070738 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1364G>A (p.Arg455His) single nucleotide variant Pitt-Hopkins syndrome [RCV005125146] Chr18:55234670 [GRCh38]
Chr18:52901901 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1235dup (p.Gly413fs) duplication Pitt-Hopkins syndrome [RCV005128583] Chr18:55254611..55254612 [GRCh38]
Chr18:52921842..52921843 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.73-8T>C single nucleotide variant Pitt-Hopkins syndrome [RCV005125329] Chr18:55585360 [GRCh38]
Chr18:53252591 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1721A>T (p.Asn574Ile) single nucleotide variant Pitt-Hopkins syndrome [RCV005131223] Chr18:55229005 [GRCh38]
Chr18:52896236 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1372G>A (p.Gly458Ser) single nucleotide variant Pitt-Hopkins syndrome [RCV005126460] Chr18:55234662 [GRCh38]
Chr18:52901893 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.207+7A>G single nucleotide variant Pitt-Hopkins syndrome [RCV005129063] Chr18:55464069 [GRCh38]
Chr18:53131300 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.1623C>G (p.Ile541Met) single nucleotide variant Pitt-Hopkins syndrome [RCV005155690] Chr18:55232535 [GRCh38]
Chr18:52899766 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.655+9C>G single nucleotide variant Pitt-Hopkins syndrome [RCV005107384] Chr18:55279542 [GRCh38]
Chr18:52946773 [GRCh37]
Chr18:18q21.2
likely benign
NM_001083962.2(TCF4):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV005256106] Chr18:55587114 [GRCh38]
Chr18:53254345 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.595C>T (p.Pro199Ser) single nucleotide variant Inborn genetic diseases [RCV005291712] Chr18:55279611 [GRCh38]
Chr18:52946842 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1146+3A>T single nucleotide variant Pitt-Hopkins syndrome [RCV005253276] Chr18:55257312 [GRCh38]
Chr18:52924543 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1819A>G (p.Lys607Glu) single nucleotide variant Pitt-Hopkins syndrome [RCV005253430] Chr18:55228907 [GRCh38]
Chr18:52896138 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1553A>T (p.Glu518Val) single nucleotide variant Inborn genetic diseases [RCV005291709] Chr18:55232605 [GRCh38]
Chr18:52899836 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1702G>A (p.Glu568Lys) single nucleotide variant Inborn genetic diseases [RCV005291711] Chr18:55229024 [GRCh38]
Chr18:52896255 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.152A>G (p.Glu51Gly) single nucleotide variant Inborn genetic diseases [RCV005283151] Chr18:55464131 [GRCh38]
Chr18:53131362 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.990+1G>C single nucleotide variant Pitt-Hopkins syndrome [RCV005255845] Chr18:55261465 [GRCh38]
Chr18:52928696 [GRCh37]
Chr18:18q21.2
likely pathogenic
NM_001083962.2(TCF4):c.1650-3C>T single nucleotide variant Pitt-Hopkins syndrome [RCV005252229] Chr18:55229079 [GRCh38]
Chr18:52896310 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.854del (p.Arg285fs) deletion not provided [RCV005425629] Chr18:55269899 [GRCh38]
Chr18:52937130 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.1972C>T (p.His658Tyr) single nucleotide variant not provided [RCV005429860] Chr18:55228269 [GRCh38]
Chr18:52895500 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.991-9T>A single nucleotide variant not provided [RCV005423493] Chr18:55260036 [GRCh38]
Chr18:52927267 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1486+1G>A single nucleotide variant not provided [RCV005417022] Chr18:55234547 [GRCh38]
Chr18:52901778 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.75G>A (p.Met25Ile) single nucleotide variant not provided [RCV005423671] Chr18:55585350 [GRCh38]
Chr18:53252581 [GRCh37]
Chr18:18q21.2
uncertain significance
NM_001083962.2(TCF4):c.1426C>T (p.Gln476Ter) single nucleotide variant not provided [RCV005413004] Chr18:55234608 [GRCh38]
Chr18:52901839 [GRCh37]
Chr18:18q21.2
pathogenic
NM_001083962.2(TCF4):c.550-1G>T single nucleotide variant Pitt-Hopkins syndrome [RCV005411128] Chr18:55279657 [GRCh38]
Chr18:52946888 [GRCh37]
Chr18:18q21.2
likely pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA21460854

Predicted Target Of
Summary Value
Count of predictions:10440
Count of miRNA genes:1390
Interacting mature miRNAs:1833
Transcripts:ENST00000354452, ENST00000356073, ENST00000398339, ENST00000457482, ENST00000537578, ENST00000537856, ENST00000540999, ENST00000543082, ENST00000544241, ENST00000561831, ENST00000561992, ENST00000562030, ENST00000562512, ENST00000562543, ENST00000562607, ENST00000562638, ENST00000562680, ENST00000562847, ENST00000563686, ENST00000563760, ENST00000563824, ENST00000563888, ENST00000564228, ENST00000564343, ENST00000564403, ENST00000564999, ENST00000565018, ENST00000565124, ENST00000565393, ENST00000565580, ENST00000565908, ENST00000566279, ENST00000566286, ENST00000566376, ENST00000566514, ENST00000566777, ENST00000567880, ENST00000568147, ENST00000568169, ENST00000568186, ENST00000568673, ENST00000568740, ENST00000569012, ENST00000569357, ENST00000570146, ENST00000570177, ENST00000570287, ENST00000590810
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597205918GWAS1301992_Hpost-traumatic stress disorder QTL GWAS1301992 (human)2e-09behavior trait (VT:0010442)185537125355371254Human
597092766GWAS1188840_HFEV/FVC ratio, response to bronchodilator QTL GWAS1188840 (human)0.000003lung capacity (VT:0001942)forced expiratory volume to forced vital capacity ratio (CMO:0000241)185553424955534250Human
597039514GWAS1135588_Hrisk-taking behaviour QTL GWAS1135588 (human)1e-10exploratory behavior trait (VT:0010471)185548765655487657Human
597115290GWAS1211364_Hneuroticism measurement, wellbeing measurement, depressive symptom measurement QTL GWAS1211364 (human)4e-09depression-related behavior trait (VT:0015015)185525371955253720Human
597249940GWAS1346014_Hmajor depressive disorder QTL GWAS1346014 (human)4e-11major depressive disorder185553997655539977Human
597246358GWAS1342432_Hneuroticism measurement QTL GWAS1342432 (human)3e-09behavior trait (VT:0010442)185543179055431791Human
597049753GWAS1145827_Hprostate carcinoma QTL GWAS1145827 (human)0.000005prostate integrity trait (VT:0010571)185556362855563629Human
597033861GWAS1129935_Hsystolic blood pressure QTL GWAS1129935 (human)5e-13arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)185558515755585158Human
597046146GWAS1142220_Hbipolar disorder, major depressive disorder QTL GWAS1142220 (human)5e-14bipolar disorder, major depressive disorder185543436755434368Human
597609348GWAS1666208_Hbenign neoplasm of adrenal gland QTL GWAS1666208 (human)5e-12benign neoplasm of adrenal gland185545166355451664Human
597179267GWAS1275341_Hneuroticism measurement QTL GWAS1275341 (human)3e-11behavior trait (VT:0010442)185549746255497463Human
597209477GWAS1305551_Hwellbeing measurement QTL GWAS1305551 (human)1e-11wellness/fitness trait (VT:1000152)185556041755560418Human
597047177GWAS1143251_Hneuroticism measurement QTL GWAS1143251 (human)7e-09behavior trait (VT:0010442)185523585455235855Human
407050339GWAS699315_Hsclerosing cholangitis QTL GWAS699315 (human)3e-08sclerosing cholangitis185553997655539977Human
597325240GWAS1421314_Heducational attainment QTL GWAS1421314 (human)1e-11educational attainment185537047455370475Human
597325241GWAS1421315_Heducational attainment QTL GWAS1421315 (human)5e-13educational attainment185551886155518862Human
596950451GWAS1069970_Hmajor depressive disorder QTL GWAS1069970 (human)1e-08depressive symptom measurement185523585455235855Human
597108671GWAS1204745_Hmathematical ability QTL GWAS1204745 (human)2e-21cognitive behavior trait (VT:0010450)185537467255374673Human
596950463GWAS1069982_Hmajor depressive disorder QTL GWAS1069982 (human)4e-08depressive symptom measurement185549746255497463Human
407327351GWAS976327_Hunipolar depression QTL GWAS976327 (human)1e-18unipolar depression185543178155431782Human
597290913GWAS1386987_Hbody mass index QTL GWAS1386987 (human)6e-16body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)185554307155543072Human
597588384GWAS1645244_Hdiabetic neuropathy QTL GWAS1645244 (human)2e-11nervous system integrity trait (VT:0010566)185542380855423809Human
597299109GWAS1395183_Htype 2 diabetes mellitus QTL GWAS1395183 (human)9e-13type 2 diabetes mellitus185542380655423807Human
597248474GWAS1344548_Hneuroticism measurement QTL GWAS1344548 (human)2e-09behavior trait (VT:0010442)185525371955253720Human
597420504GWAS1516578_Hcentral corneal thickness QTL GWAS1516578 (human)6e-11cornea thickness trait (VT:0005543)185526466055264661Human
597290972GWAS1387046_Hbody mass index QTL GWAS1387046 (human)1e-09body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)185554307155543072Human
407058949GWAS707925_Hchronotype measurement QTL GWAS707925 (human)3e-08sleep behavior trait (VT:0001501)185556341955563420Human
407058948GWAS707924_Hchronotype measurement QTL GWAS707924 (human)3e-11sleep behavior trait (VT:0001501)185548693655486937Human
407147533GWAS796509_Hschizophrenia QTL GWAS796509 (human)0.000001schizophrenia185552773055527731Human
597032415GWAS1128489_Hrisk-taking behaviour QTL GWAS1128489 (human)6e-09exploratory behavior trait (VT:0010471)185548391955483920Human
597347281GWAS1443355_Hsystolic blood pressure QTL GWAS1443355 (human)1e-09arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)185558515755585158Human
597205972GWAS1302046_Hinsulin measurement QTL GWAS1302046 (human)7e-09blood insulin amount (VT:0001560)pancreatic islet insulin release measurement (CMO:0001216)185525443155254432Human
597204950GWAS1301024_Hneuroticism measurement QTL GWAS1301024 (human)4e-10behavior trait (VT:0010442)185553997655539977Human
596975047GWAS1094566_Hmajor depressive disorder QTL GWAS1094566 (human)3e-14major depressive disorder185549746255497463Human
597108672GWAS1204746_Hmathematical ability QTL GWAS1204746 (human)8e-14cognitive behavior trait (VT:0010450)185554307155543072Human
597586886GWAS1643746_Htype 2 diabetes mellitus QTL GWAS1643746 (human)2e-23type 2 diabetes mellitus185538341555383416Human
597052366GWAS1148440_Hneuroticism measurement QTL GWAS1148440 (human)7e-15behavior trait (VT:0010442)185540072355400724Human
597049295GWAS1145369_Hmajor depressive disorder QTL GWAS1145369 (human)4e-08depression-related behavior trait (VT:0015015)185549746255497463Human
406989336GWAS638312_Hunipolar depression QTL GWAS638312 (human)6e-08unipolar depression185543178155431782Human
597190083GWAS1286157_Hpost-traumatic stress disorder symptom measurement QTL GWAS1286157 (human)1e-10stress-related behavior trait (VT:0010451)185552579655525797Human
406989337GWAS638313_Hunipolar depression QTL GWAS638313 (human)0.0000002unipolar depression185553997655539977Human
597039565GWAS1135639_Hpulse pressure measurement QTL GWAS1135639 (human)7e-10arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)185558515755585158Human
597072375GWAS1168449_Hneuroticism measurement QTL GWAS1168449 (human)5e-09behavior trait (VT:0010442)185523585455235855Human
406911010GWAS559986_Hattention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia QTL GWAS559986 (human)0.0000002attention deficit hyperactivity disorder, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia185539909755399098Human
597100021GWAS1196095_Halopecia QTL GWAS1196095 (human)8e-10alopecia185542649355426494Human
597100020GWAS1196094_Halopecia QTL GWAS1196094 (human)1e-10alopecia185533870355338704Human
406941221GWAS590197_Hinsomnia measurement QTL GWAS590197 (human)9e-09sleep behavior trait (VT:0001501)185522830055228301Human
597190140GWAS1286214_Hpost-traumatic stress disorder symptom measurement QTL GWAS1286214 (human)1e-08stress-related behavior trait (VT:0010451)185558515755585158Human
597237756GWAS1333830_Hcortical thickness QTL GWAS1333830 (human)1e-13cerebral cortex morphology trait (VT:0000788)185527113855271139Human
596972528GWAS1092047_Hmajor depressive disorder QTL GWAS1092047 (human)0.0000002major depressive disorder185553997655539977Human
596971516GWAS1091035_Hmajor depressive disorder QTL GWAS1091035 (human)2e-27major depressive disorder185543178155431782Human
597040125GWAS1136199_Hrisk-taking behaviour QTL GWAS1136199 (human)3e-08exploratory behavior trait (VT:0010471)185539208955392090Human
597144060GWAS1240134_Hsmoking initiation QTL GWAS1240134 (human)2e-12behavior trait (VT:0010442)185548636255486363Human
407026735GWAS675711_HFuchs endothelial corneal dystrophy QTL GWAS675711 (human)1e-18cognitive behavior trait (VT:0010450)185554307155543072Human
597088760GWAS1184834_Hdepressive symptom measurement QTL GWAS1184834 (human)4e-09depression-related behavior trait (VT:0015015)185543436755434368Human
597278185GWAS1374259_Hinsomnia QTL GWAS1374259 (human)2e-23sleep behavior trait (VT:0001501)185522830055228301Human
597061606GWAS1157680_Hage at menarche QTL GWAS1157680 (human)2e-10estrous cycle trait (VT:0001927)185554609555546096Human
597278184GWAS1374258_Hinsomnia QTL GWAS1374258 (human)8e-14sleep behavior trait (VT:0001501)185522273655222737Human
406921776GWAS570752_Hunipolar depression QTL GWAS570752 (human)4e-08depressive symptom measurement185549746255497463Human
597278187GWAS1374261_Hinsomnia QTL GWAS1374261 (human)1e-11sleep behavior trait (VT:0001501)185529764155297642Human
597278186GWAS1374260_Hinsomnia QTL GWAS1374260 (human)2e-08sleep behavior trait (VT:0001501)185524258855242589Human
597278189GWAS1374263_Hinsomnia QTL GWAS1374263 (human)6e-14sleep behavior trait (VT:0001501)185537796755377968Human
597597674GWAS1654534_HHbA1c measurement QTL GWAS1654534 (human)2e-15blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)185542380855423809Human
597589994GWAS1646854_Htype 2 diabetes mellitus QTL GWAS1646854 (human)3e-11type 2 diabetes mellitus185542380855423809Human
597278188GWAS1374262_Hinsomnia QTL GWAS1374262 (human)4e-12sleep behavior trait (VT:0001501)185537598955375990Human
407129137GWAS778113_Hschizophrenia QTL GWAS778113 (human)4e-09schizophrenia185548777155487772Human
597063139GWAS1159213_Hautism spectrum disorder, schizophrenia QTL GWAS1159213 (human)5e-11behavior trait (VT:0010442)185553288655532887Human
597278190GWAS1374264_Hinsomnia QTL GWAS1374264 (human)3e-10sleep behavior trait (VT:0001501)185537908855379089Human
407114814GWAS763790_Hrisk-taking behaviour QTL GWAS763790 (human)1e-10exploratory behavior trait (VT:0010471)185553160555531606Human
596972526GWAS1092045_Hmajor depressive disorder QTL GWAS1092045 (human)6e-08major depressive disorder185543178155431782Human
407116345GWAS765321_Hbalding measurement QTL GWAS765321 (human)6e-23hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)185548462055484621Human
597274906GWAS1370980_Hschizophrenia QTL GWAS1370980 (human)0.000005schizophrenia185542075355420754Human
597233434GWAS1329508_Hmajor depressive disorder QTL GWAS1329508 (human)5e-13major depressive disorder185546866355468664Human
597051154GWAS1147228_Hmood disorder, major depressive disorder QTL GWAS1147228 (human)3e-08behavior trait (VT:0010442)185543186255431863Human
597269788GWAS1365862_Htaste liking measurement QTL GWAS1365862 (human)3e-08gustatory system physiology trait (VT:0001985)185522248155222485Human
597251358GWAS1347432_Hcentral corneal thickness QTL GWAS1347432 (human)2e-21cornea thickness trait (VT:0005543)185554307155543072Human
406921417GWAS570393_Hunipolar depression QTL GWAS570393 (human)1e-08depressive symptom measurement185523585455235855Human
407169740GWAS818716_Hunipolar depression QTL GWAS818716 (human)2e-17unipolar depression185543178155431782Human
597048602GWAS1144676_Hmood disorder, major depressive disorder QTL GWAS1144676 (human)2e-10behavior trait (VT:0010442)185549746255497463Human
597247752GWAS1343826_Hneuroticism measurement QTL GWAS1343826 (human)5e-08behavior trait (VT:0010442)185558515755585158Human
597280523GWAS1376597_Hinsomnia QTL GWAS1376597 (human)2e-12sleep behavior trait (VT:0001501)185525708655257087Human
406921427GWAS570403_Hunipolar depression QTL GWAS570403 (human)5e-08unipolar depression185545007355450074Human
597274381GWAS1370455_Htype 2 diabetes mellitus QTL GWAS1370455 (human)2e-11type 2 diabetes mellitus185538341555383416Human
597284621GWAS1380695_Hhemoglobin A1 measurement QTL GWAS1380695 (human)5e-09blood hemoglobin amount (VT:0001588)185541789655417897Human
597280524GWAS1376598_Hinsomnia QTL GWAS1376598 (human)2e-08sleep behavior trait (VT:0001501)185527559655275597Human
597226242GWAS1322316_Hchronotype measurement QTL GWAS1322316 (human)6e-10sleep behavior trait (VT:0001501)185539208955392090Human
597216005GWAS1312079_Hpulse pressure measurement QTL GWAS1312079 (human)0.0000004arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)185558515755585158Human
597118728GWAS1214802_Hmajor depressive disorder QTL GWAS1214802 (human)3e-15major depressive disorder185543436755434368Human
596954891GWAS1074410_Hbody mass index QTL GWAS1074410 (human)6e-16body mass index185554307155543072Human
597249855GWAS1345929_Hcorneal resistance factor QTL GWAS1345929 (human)3e-08cornea morphology trait (VT:0001312)185541663455416635Human
597320509GWAS1416583_Halcohol use disorder measurement QTL GWAS1416583 (human)0.000001response to alcohol trait (VT:0010489)185548777155487772Human
596969789GWAS1089308_Hmajor depressive disorder QTL GWAS1089308 (human)2e-17major depressive disorder185543178155431782Human
597315383GWAS1411457_Hcortical thickness QTL GWAS1411457 (human)1e-15cerebral cortex morphology trait (VT:0000788)185523959955239600Human
597206838GWAS1302912_Hmajor depressive disorder QTL GWAS1302912 (human)6e-08major depressive disorder185543178155431782Human
597581616GWAS1638476_Hmonocyte count QTL GWAS1638476 (human)2e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)185554307155543072Human
596971834GWAS1091353_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1091353 (human)3e-10obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder185553288655532887Human
597206839GWAS1302913_Hmajor depressive disorder QTL GWAS1302913 (human)0.0000002major depressive disorder185553997655539977Human
597598510GWAS1655370_HHbA1c measurement QTL GWAS1655370 (human)2e-17blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)185542380855423809Human
597103908GWAS1199982_Hself rated health QTL GWAS1199982 (human)5e-08self rated health185557718355577184Human
597224751GWAS1320825_Hmajor depressive disorder QTL GWAS1320825 (human)2e-17major depressive disorder185543178155431782Human
597141294GWAS1237368_Hirritable bowel syndrome QTL GWAS1237368 (human)5e-11intestine integrity trait (VT:0010554)185543436755434368Human
597348644GWAS1444718_Hgastroesophageal reflux disease QTL GWAS1444718 (human)3e-08stomach integrity trait (VT:0010603)185522508455225085Human
406930174GWAS579150_Hunipolar depression, mood disorder QTL GWAS579150 (human)5e-08unipolar depression, mood disorder185545580055455801Human
597072212GWAS1168286_Hmood instability measurement QTL GWAS1168286 (human)7e-13emotion/affect behavior trait (VT:0002572)185527113855271139Human
597279581GWAS1375655_Hinsomnia QTL GWAS1375655 (human)1e-08sleep behavior trait (VT:0001501)185543178155431782Human
597279580GWAS1375654_Hinsomnia QTL GWAS1375654 (human)6e-12sleep behavior trait (VT:0001501)185530497955304980Human
597061459GWAS1157533_Hschizophrenia QTL GWAS1157533 (human)4e-08schizophrenia185531993055319931Human
597098832GWAS1194906_Hmonocyte count QTL GWAS1194906 (human)3e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)185554307155543072Human
597324115GWAS1420189_Hschizophrenia QTL GWAS1420189 (human)1e-13schizophrenia185534311755343118Human
597324113GWAS1420187_Hschizophrenia QTL GWAS1420187 (human)1e-13schizophrenia185553288655532887Human
597245780GWAS1341854_Hcoffee consumption measurement, neuroticism measurement QTL GWAS1341854 (human)2e-10behavior trait (VT:0010442)185543467355434674Human
597031768GWAS1127842_Hmood instability measurement QTL GWAS1127842 (human)1e-14emotion/affect behavior trait (VT:0002572)185554307155543072Human
596964165GWAS1083684_Hattention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS1083684 (human)0.0000002behavior trait (VT:0010442)185539909755399098Human
596973382GWAS1092901_Hmajor depressive disorder QTL GWAS1092901 (human)1e-18major depressive disorder185543178155431782Human
407042705GWAS691681_Hunipolar depression, irritable bowel syndrome QTL GWAS691681 (human)1e-08unipolar depression, irritable bowel syndrome185543462955434630Human
597205325GWAS1301399_Hwellbeing measurement QTL GWAS1301399 (human)7e-15wellness/fitness trait (VT:1000152)185534671655346717Human
597588811GWAS1645671_Hglucose measurement QTL GWAS1645671 (human)3e-12blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)185542380855423809Human
597590344GWAS1647204_HFuchs' endothelial dystrophy QTL GWAS1647204 (human)1e-323Fuchs' endothelial dystrophy185551968055519681Human
597205326GWAS1301400_Hwellbeing measurement QTL GWAS1301400 (human)4e-12wellness/fitness trait (VT:1000152)185553160555531606Human
597205327GWAS1301401_Hwellbeing measurement QTL GWAS1301401 (human)9e-10wellness/fitness trait (VT:1000152)185553997655539977Human
406930072GWAS579048_Hunipolar depression, mood disorder QTL GWAS579048 (human)6e-12unipolar depression, mood disorder185553763355537634Human
597050188GWAS1146262_Hneuroticism measurement QTL GWAS1146262 (human)4e-08behavior trait (VT:0010442)185531522755315228Human
597050189GWAS1146263_Hneuroticism measurement QTL GWAS1146263 (human)1e-10behavior trait (VT:0010442)185544197155441972Human
597320518GWAS1416592_Hsmoking initiation QTL GWAS1416592 (human)1e-11behavior trait (VT:0010442)185548315055483151Human
597072200GWAS1168274_Hmood instability measurement QTL GWAS1168274 (human)4e-12emotion/affect behavior trait (VT:0002572)185537283555372836Human
596974923GWAS1094442_Hmajor depressive disorder QTL GWAS1094442 (human)5e-13major depressive disorder185546866355468664Human
597072201GWAS1168275_Hmood instability measurement QTL GWAS1168275 (human)2e-12emotion/affect behavior trait (VT:0002572)185554307155543072Human
407034018GWAS682994_Hunipolar depression QTL GWAS682994 (human)6e-21unipolar depression185543178155431782Human
597337968GWAS1434042_Hirritable bowel syndrome, major depressive disorder QTL GWAS1434042 (human)1e-08intestine integrity trait (VT:0010554)185543462955434630Human
597101436GWAS1197510_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1197510 (human)6e-13schizophrenia, intelligence, self reported educational attainment185553288655532887Human
597071738GWAS1167812_Hneuroticism measurement QTL GWAS1167812 (human)7e-11behavior trait (VT:0010442)185544864855448649Human
597072763GWAS1168837_Hloneliness measurement QTL GWAS1168837 (human)7e-11emotion/affect behavior trait (VT:0002572)185558515755585158Human
597073273GWAS1169347_Hfeeling "fed-up" measurement QTL GWAS1169347 (human)3e-14emotion/affect behavior trait (VT:0002572)185558515755585158Human
406912690GWAS561666_Hheel bone mineral density QTL GWAS561666 (human)1e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)185543436755434368Human
597090658GWAS1186732_Htype 2 diabetes mellitus QTL GWAS1186732 (human)8e-20type 2 diabetes mellitus185538341555383416Human
407061686GWAS710662_Hunipolar depression QTL GWAS710662 (human)4e-11unipolar depression185543436755434368Human
597047136GWAS1143210_HC-reactive protein measurement QTL GWAS1143210 (human)9e-09C-reactive protein amount (VT:0010036)blood C-reactive protein level (CMO:0003160)185554307155543072Human
596971372GWAS1090891_Hmajor depressive disorder QTL GWAS1090891 (human)4e-11major depressive disorder185543436755434368Human
407028409GWAS677385_Hobesity QTL GWAS677385 (human)0.000004eating behavior trait (VT:0001431)185535912655359127Human
597116780GWAS1212854_Hself reported educational attainment QTL GWAS1212854 (human)9e-20self reported educational attainment185554307155543072Human
597076330GWAS1172404_Hgrip strength measurement QTL GWAS1172404 (human)6e-08grip strength measurement185557718355577184Human
597190500GWAS1286574_Hpost-traumatic stress disorder symptom measurement QTL GWAS1286574 (human)5e-09behavior trait (VT:0010442)185558515755585158Human
596986731GWAS1106250_Hbody mass index QTL GWAS1106250 (human)1e-09body mass index185554307155543072Human
597212518GWAS1308592_Hschizophrenia QTL GWAS1308592 (human)9e-11schizophrenia185558433155584332Human
597037929GWAS1134003_Hbody mass index QTL GWAS1134003 (human)1e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)185554307155543072Human
597238937GWAS1335011_Hretinal vasculature measurement QTL GWAS1335011 (human)0.000003retina blood vessel morphology trait (VT:0002792)185551968055519681Human
597026448GWAS1122522_Hloneliness measurement QTL GWAS1122522 (human)4e-17emotion/affect behavior trait (VT:0002572)185554307155543072Human
597048465GWAS1144539_Hmood disorder, major depressive disorder QTL GWAS1144539 (human)6e-12behavior trait (VT:0010442)185553763355537634Human
596963484GWAS1083003_Htype 2 diabetes mellitus QTL GWAS1083003 (human)9e-13type 2 diabetes mellitus185542380655423807Human
597325968GWAS1422042_Hpain QTL GWAS1422042 (human)4e-08pain threshold (VT:0001970)185558092055580921Human
596973726GWAS1093245_Hmajor depressive disorder QTL GWAS1093245 (human)1e-10major depressive disorder185543178155431782Human
407166287GWAS815263_Hunipolar depression QTL GWAS815263 (human)2e-12unipolar depression185553997655539977Human
597142171GWAS1238245_HAntihypertensive use measurement QTL GWAS1238245 (human)1e-09Antihypertensive use measurement185556362855563629Human
596961945GWAS1081464_Hrisk-taking behaviour QTL GWAS1081464 (human)2e-14risk-taking behaviour185551616555516166Human
597219989GWAS1316063_Hcorneal resistance factor QTL GWAS1316063 (human)7e-67cornea morphology trait (VT:0001312)185551968055519681Human
597410964GWAS1507038_Hmood disorder, major depressive disorder QTL GWAS1507038 (human)2e-08behavior trait (VT:0010442)185523098855230989Human
597111943GWAS1208017_Htea consumption measurement QTL GWAS1208017 (human)0.0000003drinking behavior trait (VT:0001422)drink intake measurement (CMO:0000771)185523636955236370Human
406916944GWAS565920_Hrisk-taking behaviour QTL GWAS565920 (human)2e-12exploratory behavior trait (VT:0010471)185531522755315228Human
596950656GWAS1070175_Hmood disorder, major depressive disorder QTL GWAS1070175 (human)2e-08mood disorder, major depressive disorder185523098855230989Human
597332622GWAS1428696_Hcigarettes per day measurement QTL GWAS1428696 (human)3e-12cigarettes per day measurement185557207155572072Human
597332621GWAS1428695_Hcigarettes per day measurement QTL GWAS1428695 (human)3e-12cigarettes per day measurement185543178155431782Human
597208705GWAS1304779_Hdepressive symptom measurement QTL GWAS1304779 (human)5e-10depression-related behavior trait (VT:0015015)185553997655539977Human
597048463GWAS1144537_Hmood disorder, major depressive disorder QTL GWAS1144537 (human)4e-17behavior trait (VT:0010442)185558515755585158Human
597054605GWAS1150679_Hhousehold income QTL GWAS1150679 (human)6e-11household income185554307155543072Human
597110411GWAS1206485_Hmajor depressive disorder QTL GWAS1206485 (human)4e-11major depressive disorder185543436755434368Human
406926175GWAS575151_Hunipolar depression, mood disorder QTL GWAS575151 (human)2e-10unipolar depression, mood disorder185549746255497463Human
597231289GWAS1327363_Hcigarettes per day measurement QTL GWAS1327363 (human)9e-09cigarettes per day measurement185558449455584495Human
597072575GWAS1168649_Hworry measurement QTL GWAS1168649 (human)1e-09emotion/affect behavior trait (VT:0002572)185543702255437023Human
597278387GWAS1374461_Hinsomnia QTL GWAS1374461 (human)6e-15sleep behavior trait (VT:0001501)185540072355400724Human
597278386GWAS1374460_Hinsomnia QTL GWAS1374460 (human)1e-15sleep behavior trait (VT:0001501)185538995755389958Human
597094586GWAS1190660_Hschizophrenia QTL GWAS1190660 (human)0.000002schizophrenia185538341555383416Human
597278389GWAS1374463_Hinsomnia QTL GWAS1374463 (human)5e-10sleep behavior trait (VT:0001501)185546866355468664Human
597278388GWAS1374462_Hinsomnia QTL GWAS1374462 (human)4e-09sleep behavior trait (VT:0001501)185543186255431863Human
596970171GWAS1089690_Hmajor depressive disorder QTL GWAS1089690 (human)2e-12major depressive disorder185553997655539977Human
597049529GWAS1145603_Hmajor depressive disorder QTL GWAS1145603 (human)1e-08depression-related behavior trait (VT:0015015)185523585455235855Human
597278390GWAS1374464_Hinsomnia QTL GWAS1374464 (human)2e-08sleep behavior trait (VT:0001501)185549746255497463Human
407151477GWAS800453_Hunipolar depression, mood disorder QTL GWAS800453 (human)4e-09unipolar depression, mood disorder185562969655629697Human
597139107GWAS1235181_Hmajor depressive disorder QTL GWAS1235181 (human)1e-18major depressive disorder185543178155431782Human
597212846GWAS1308920_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1308920 (human)3e-10behavior trait (VT:0010442)185553288655532887Human
597409443GWAS1505517_Hinsomnia QTL GWAS1505517 (human)7e-09sleep behavior trait (VT:0001501)185546650955466510Human
406913915GWAS562891_Hunipolar depression, bipolar disorder QTL GWAS562891 (human)5e-14unipolar depression, bipolar disorder185543436755434368Human
597150889GWAS1246963_Hinsomnia QTL GWAS1246963 (human)2e-09sleep behavior trait (VT:0001501)185538995755389958Human
597200090GWAS1296164_Hdiastolic blood pressure QTL GWAS1296164 (human)0.000008arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)185558515755585158Human
597484255GWAS1580329_Hself reported educational attainment QTL GWAS1580329 (human)3e-08self reported educational attainment185548179055481791Human
596950737GWAS1070256_Hmood disorder, major depressive disorder QTL GWAS1070256 (human)5e-08mood disorder, major depressive disorder185545580055455801Human
597053648GWAS1149722_Hneuroticism measurement QTL GWAS1149722 (human)3e-10behavior trait (VT:0010442)185539208955392090Human
597053649GWAS1149723_Hneuroticism measurement QTL GWAS1149723 (human)3e-10behavior trait (VT:0010442)185541636055416361Human
597199056GWAS1295130_Hbody mass index QTL GWAS1295130 (human)3e-10body size trait (VT:0100005)body mass index (BMI) (CMO:0000105)185554307155543072Human
407053064GWAS702040_Hinsomnia measurement QTL GWAS702040 (human)2e-12sleep behavior trait (VT:0001501)185523959955239600Human
597104346GWAS1200420_Halopecia QTL GWAS1200420 (human)2e-08alopecia185545123155451232Human
597246153GWAS1342227_Hcoffee consumption measurement, insomnia QTL GWAS1342227 (human)1e-08drinking behavior trait (VT:0001422)185543467355434674Human
597059269GWAS1155343_Hintraocular pressure measurement QTL GWAS1155343 (human)3e-08intraocular pressure (VT:0005257)185536049255360493Human
406981393GWAS630369_Hheel bone mineral density QTL GWAS630369 (human)4e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)185549936355499364Human
597276365GWAS1372439_Hinsomnia QTL GWAS1372439 (human)2e-09sleep behavior trait (VT:0001501)185531522755315228Human
597276364GWAS1372438_Hinsomnia QTL GWAS1372438 (human)9e-15sleep behavior trait (VT:0001501)185522830055228301Human
597268684GWAS1364758_Htype 2 diabetes mellitus QTL GWAS1364758 (human)1e-09type 2 diabetes mellitus185538341555383416Human
597276367GWAS1372441_Hinsomnia QTL GWAS1372441 (human)5e-09sleep behavior trait (VT:0001501)185541663455416635Human
406979348GWAS628324_Hschizophrenia QTL GWAS628324 (human)1e-11schizophrenia185553288655532887Human
597276366GWAS1372440_Hinsomnia QTL GWAS1372440 (human)2e-10sleep behavior trait (VT:0001501)185538995755389958Human
597113039GWAS1209113_Hmajor depressive disorder QTL GWAS1209113 (human)2e-27major depressive disorder185543178155431782Human
596953800GWAS1073319_Hsize QTL GWAS1073319 (human)6e-09size185548462055484621Human
597222597GWAS1318671_Hmajor depressive disorder QTL GWAS1318671 (human)2e-12major depressive disorder185553997655539977Human
597410501GWAS1506575_Hneuroticism measurement QTL GWAS1506575 (human)3e-09behavior trait (VT:0010442)185546650955466510Human
597211335GWAS1307409_Hself reported educational attainment QTL GWAS1307409 (human)2e-18self reported educational attainment185554307155543072Human
406982941GWAS631917_Hunipolar depression, mood disorder QTL GWAS631917 (human)4e-17unipolar depression, mood disorder185558515755585158Human
597086966GWAS1183040_Htype 2 diabetes mellitus QTL GWAS1183040 (human)4e-20type 2 diabetes mellitus185538341555383416Human
597205754GWAS1301828_Hpost-traumatic stress disorder QTL GWAS1301828 (human)2e-10behavior trait (VT:0010442)185558515755585158Human
597047026GWAS1143100_Hneuroticism measurement QTL GWAS1143100 (human)3e-12behavior trait (VT:0010442)185543436755434368Human
597074675GWAS1170749_Hneuroticism measurement QTL GWAS1170749 (human)9e-11behavior trait (VT:0010442)185540072355400724Human
597176061GWAS1272135_Hcigarettes per day measurement QTL GWAS1272135 (human)1e-13cigarettes per day measurement185558449455584495Human
597035775GWAS1131849_Htype 2 diabetes mellitus QTL GWAS1131849 (human)1e-14type 2 diabetes mellitus185538341555383416Human
597099259GWAS1195333_Hattention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS1195333 (human)9e-10behavior trait (VT:0010442)185543178155431782Human
597100281GWAS1196355_Hmajor depressive disorder QTL GWAS1196355 (human)2e-12major depressive disorder185546866355468664Human
597041894GWAS1137968_Hschizophrenia QTL GWAS1137968 (human)8e-09schizophrenia185542565355425654Human
596973284GWAS1092803_Hirritable bowel syndrome, major depressive disorder QTL GWAS1092803 (human)1e-08irritable bowel syndrome, major depressive disorder185543462955434630Human
597041895GWAS1137969_Hschizophrenia QTL GWAS1137969 (human)2e-09schizophrenia185553288655532887Human
597257963GWAS1354037_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1354037 (human)0.00001stomach integrity trait (VT:0010603)185543613755436138Human
597598952GWAS1655812_HHbA1c measurement QTL GWAS1655812 (human)1e-16blood hemoglobin amount (VT:0001588)blood hemoglobin A1c level (CMO:0002786)185542380855423809Human
597051118GWAS1147192_Hmood disorder, major depressive disorder QTL GWAS1147192 (human)6e-12behavior trait (VT:0010442)185523585455235855Human
597203680GWAS1299754_Hwellbeing measurement QTL GWAS1299754 (human)7e-16wellness/fitness trait (VT:1000152)185543178155431782Human
597049582GWAS1145656_Hmajor depressive disorder QTL GWAS1145656 (human)5e-08major depressive disorder185545007355450074Human
597051119GWAS1147193_Hmood disorder, major depressive disorder QTL GWAS1147193 (human)5e-08behavior trait (VT:0010442)185527113855271139Human
597203681GWAS1299755_Hwellbeing measurement QTL GWAS1299755 (human)2e-12wellness/fitness trait (VT:1000152)185553160555531606Human
597232866GWAS1328940_Hresponse to surgery QTL GWAS1328940 (human)0.000006response to surgery185550028955500290Human
597051113GWAS1147187_Hmood disorder, major depressive disorder QTL GWAS1147187 (human)1e-10behavior trait (VT:0010442)185538995755389958Human
597211879GWAS1307953_Hmathematical ability QTL GWAS1307953 (human)2e-15cognitive behavior trait (VT:0010450)185543702255437023Human
597438691GWAS1534765_Hautism spectrum disorder, schizophrenia QTL GWAS1534765 (human)9e-10behavior trait (VT:0010442)185558617955586180Human
597235739GWAS1331813_Hbiological sex QTL GWAS1331813 (human)4e-13biological sex185542613655426137Human
597290523GWAS1386597_Hsize QTL GWAS1386597 (human)6e-09size185548462055484621Human
597098003GWAS1194077_Hschizophrenia QTL GWAS1194077 (human)2e-13schizophrenia185553288655532887Human
406920647GWAS569623_Hunipolar depression, mood disorder QTL GWAS569623 (human)6e-12unipolar depression, mood disorder185523585455235855Human
597029395GWAS1125469_Hself reported educational attainment QTL GWAS1125469 (human)1e-12self reported educational attainment185554307155543072Human
407123395GWAS772371_Hschizophrenia QTL GWAS772371 (human)3e-12schizophrenia185553288655532887Human
406920648GWAS569624_Hunipolar depression, mood disorder QTL GWAS569624 (human)5e-08unipolar depression, mood disorder185527113855271139Human
597401105GWAS1497179_Hinsomnia QTL GWAS1497179 (human)2e-09sleep behavior trait (VT:0001501)185523089755230898Human
406920650GWAS569626_Hunipolar depression, mood disorder QTL GWAS569626 (human)3e-08unipolar depression, mood disorder185543186255431863Human
406920653GWAS569629_Hunipolar depression, mood disorder QTL GWAS569629 (human)2e-08unipolar depression, mood disorder185523098855230989Human
597508107GWAS1604181_Hrisk-taking behaviour QTL GWAS1604181 (human)7e-13exploratory behavior trait (VT:0010471)185540293755402938Human
597248002GWAS1344076_Hneuroticism measurement QTL GWAS1344076 (human)4e-08behavior trait (VT:0010442)185543179055431791Human
597136395GWAS1232469_Hneuroimaging measurement QTL GWAS1232469 (human)3e-11nervous system morphology trait (VT:0003632)185525371955253720Human
597233157GWAS1329231_Hmajor depressive disorder QTL GWAS1329231 (human)3e-14major depressive disorder185549746255497463Human
596972554GWAS1092073_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1092073 (human)1e-12obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder185543436755434368Human
407125476GWAS774452_Hschizophrenia QTL GWAS774452 (human)3e-10schizophrenia185528242655282427Human
597115447GWAS1211521_Hcognitive function measurement QTL GWAS1211521 (human)2e-10cognitive behavior trait (VT:0010450)185554307155543072Human
597115446GWAS1211520_Hcognitive function measurement QTL GWAS1211520 (human)4e-08cognitive behavior trait (VT:0010450)185543702255437023Human
597026356GWAS1122430_Hloneliness measurement QTL GWAS1122430 (human)5e-14emotion/affect behavior trait (VT:0002572)185554307155543072Human
597115958GWAS1212032_Hmathematical ability QTL GWAS1212032 (human)5e-11cognitive behavior trait (VT:0010450)185554307155543072Human
597226553GWAS1322627_Hcigarettes per day measurement QTL GWAS1322627 (human)1e-08cigarettes per day measurement185558449455584495Human
597208122GWAS1304196_Hcutaneous Leishmaniasis QTL GWAS1304196 (human)0.000006response to parasitic infection trait (VT:0010437)185528844455288445Human
597115957GWAS1212031_Hmathematical ability QTL GWAS1212031 (human)5e-23cognitive behavior trait (VT:0010450)185537467255374673Human
596950577GWAS1070096_Hmood disorder, major depressive disorder QTL GWAS1070096 (human)6e-12mood disorder, major depressive disorder185553763355537634Human
597104689GWAS1200763_Halopecia QTL GWAS1200763 (human)2e-09alopecia185538325855383259Human
597257790GWAS1353864_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1353864 (human)0.000008stomach integrity trait (VT:0010603)185532490555324906Human
597217328GWAS1313402_Hneuroticism measurement QTL GWAS1313402 (human)9e-11behavior trait (VT:0010442)185543186255431863Human
597217329GWAS1313403_Hneuroticism measurement QTL GWAS1313403 (human)1e-09behavior trait (VT:0010442)185540072355400724Human
597027388GWAS1123462_Hschizophrenia QTL GWAS1123462 (human)1e-12schizophrenia185553288655532887Human
597217330GWAS1313404_Hneuroticism measurement QTL GWAS1313404 (human)1e-08behavior trait (VT:0010442)185553160555531606Human
597023800GWAS1119874_Hcolorectal cancer QTL GWAS1119874 (human)0.000005colorectal cancer185528719055287191Human
406918636GWAS567612_Hbalding measurement QTL GWAS567612 (human)5e-08arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)185554307155543072Human
407214571GWAS863547_Hunipolar depression QTL GWAS863547 (human)1e-10unipolar depression185543178155431782Human
597593649GWAS1650509_Hplatelet count QTL GWAS1650509 (human)3e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)185554307155543072Human
407116788GWAS765764_Hrisk-taking behaviour QTL GWAS765764 (human)1e-13exploratory behavior trait (VT:0010471)185541706955417070Human
407264245GWAS913221_Hunipolar depression QTL GWAS913221 (human)3e-14unipolar depression185549746255497463Human
597217325GWAS1313399_Hneuroticism measurement QTL GWAS1313399 (human)1e-12behavior trait (VT:0010442)185538995755389958Human
597205549GWAS1301623_Hneuroticism measurement QTL GWAS1301623 (human)3e-15depression-related behavior trait (VT:0015015)185541663455416635Human
597205550GWAS1301624_Hneuroticism measurement QTL GWAS1301624 (human)3e-12depression-related behavior trait (VT:0015015)185553160555531606Human
597072929GWAS1169003_Hirritability measurement QTL GWAS1169003 (human)7e-12emotion/affect behavior trait (VT:0002572)185544180455441805Human
597217327GWAS1313401_Hneuroticism measurement QTL GWAS1313401 (human)7e-11behavior trait (VT:0010442)185549746255497463Human
596955690GWAS1075209_Hphysical activity measurement QTL GWAS1075209 (human)7e-09physical activity measurement185551886155518862Human
597326884GWAS1422958_Hcolor vision disorder QTL GWAS1422958 (human)0.000002color vision disorder185556253055562531Human
597128789GWAS1224863_Hmajor depressive disorder QTL GWAS1224863 (human)1e-10major depressive disorder185543178155431782Human
596950614GWAS1070133_Hmood disorder, major depressive disorder QTL GWAS1070133 (human)2e-10mood disorder, major depressive disorder185549746255497463Human
597245008GWAS1341082_Hcoffee consumption measurement, major depressive disorder QTL GWAS1341082 (human)1e-10drinking behavior trait (VT:0001422)185543467355434674Human
597050975GWAS1147049_Hprostate carcinoma QTL GWAS1147049 (human)3e-08prostate integrity trait (VT:0010571)185556362855563629Human
597292617GWAS1388691_Hlymphocyte count QTL GWAS1388691 (human)3e-08lymphocyte quantity (VT:0000717)blood lymphocyte count (CMO:0000031)185554763455547635Human
406920595GWAS569571_Hunipolar depression, mood disorder QTL GWAS569571 (human)1e-10unipolar depression, mood disorder185538995755389958Human
597032519GWAS1128593_Hrisk-taking behaviour QTL GWAS1128593 (human)7e-10exploratory behavior trait (VT:0010471)185551616555516166Human
597026374GWAS1122448_Hsocial interaction measurement QTL GWAS1122448 (human)2e-09behavior trait (VT:0010442)voluntary social interaction measurement (CMO:0002676)185554307155543072Human
407081878GWAS730854_Hloneliness measurement QTL GWAS730854 (human)6e-14emotion/affect behavior trait (VT:0002572)185558515755585158Human
406902167GWAS551143_Hunipolar depression QTL GWAS551143 (human)5e-13unipolar depression185546866355468664Human
597211207GWAS1307281_Hwellbeing measurement QTL GWAS1307281 (human)8e-12wellness/fitness trait (VT:1000152)185534671655346717Human
596978292GWAS1097811_Hbody height QTL GWAS1097811 (human)1e-12body height185540368355403684Human
597249146GWAS1345220_Hneuroticism measurement QTL GWAS1345220 (human)5e-09behavior trait (VT:0010442)185525371955253720Human
597188733GWAS1284807_Hmajor depressive disorder QTL GWAS1284807 (human)6e-21major depressive disorder185543178155431782Human
597088371GWAS1184445_Hschizophrenia QTL GWAS1184445 (human)8e-11schizophrenia185553288655532887Human
596950643GWAS1070162_Hmood disorder, major depressive disorder QTL GWAS1070162 (human)1e-10mood disorder, major depressive disorder185538995755389958Human
596950653GWAS1070172_Hmood disorder, major depressive disorder QTL GWAS1070172 (human)3e-08mood disorder, major depressive disorder185543186255431863Human
596950649GWAS1070168_Hmood disorder, major depressive disorder QTL GWAS1070168 (human)4e-09mood disorder, major depressive disorder185562969655629697Human
596950650GWAS1070169_Hmood disorder, major depressive disorder QTL GWAS1070169 (human)6e-12mood disorder, major depressive disorder185523585455235855Human
597112953GWAS1209027_Hbitter alcoholic beverage consumption measurement QTL GWAS1209027 (human)0.0000003drinking behavior trait (VT:0001422)drink intake measurement (CMO:0000771)185538144755381448Human
596950651GWAS1070170_Hmood disorder, major depressive disorder QTL GWAS1070170 (human)5e-08mood disorder, major depressive disorder185527113855271139Human
597039225GWAS1135299_Hrisk-taking behaviour QTL GWAS1135299 (human)2e-14exploratory behavior trait (VT:0010471)185551616555516166Human
597249641GWAS1345715_Hmajor depressive disorder QTL GWAS1345715 (human)6e-09major depressive disorder185553997655539977Human
406983088GWAS632064_Hunipolar depression QTL GWAS632064 (human)2e-27unipolar depression185543178155431782Human
407063985GWAS712961_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS712961 (human)3e-10obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa185553288655532887Human
596973664GWAS1093183_Hmajor depressive disorder QTL GWAS1093183 (human)6e-21major depressive disorder185543178155431782Human
596950627GWAS1070146_Hmajor depressive disorder QTL GWAS1070146 (human)5e-08major depressive disorder185545007355450074Human
597208687GWAS1304761_Hwellbeing measurement QTL GWAS1304761 (human)2e-08wellness/fitness trait (VT:1000152)185553997655539977Human
596950637GWAS1070156_Hmood disorder, major depressive disorder QTL GWAS1070156 (human)4e-17mood disorder, major depressive disorder185558515755585158Human
597293154GWAS1389228_Hphysical activity measurement QTL GWAS1389228 (human)7e-09wellness/fitness trait (VT:1000152)voluntary body mobility/immobility measurement (CMO:0000954)185551886155518862Human
597212260GWAS1308334_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa, major depressive disorder QTL GWAS1308334 (human)1e-12behavior trait (VT:0010442)185543436755434368Human
597045866GWAS1141940_HAbnormality of refraction QTL GWAS1141940 (human)4e-12Abnormality of refraction185557490655574907Human
407126969GWAS775945_Hschizophrenia QTL GWAS775945 (human)0.0000001schizophrenia185539100755391008Human
407065021GWAS713997_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS713997 (human)1e-12obsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa185543436755434368Human
597116008GWAS1212082_Hintraocular pressure measurement QTL GWAS1212082 (human)5e-17intraocular pressure (VT:0005257)185551968055519681Human

Markers in Region
D18S35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,161,334 - 53,161,437UniSTSGRCh37
Celera1849,878,000 - 49,878,103UniSTS
Cytogenetic Map18q21.1UniSTS
HuRef1849,871,583 - 49,871,686UniSTS
Marshfield Genetic Map1877.36RGD
Marshfield Genetic Map1877.36UniSTS
deCODE Assembly Map1876.38UniSTS
D18S1119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,205,159 - 53,205,318UniSTSGRCh37
Build 361851,356,157 - 51,356,316RGDNCBI36
Celera1849,922,452 - 49,922,611RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,915,415 - 49,915,572UniSTS
Marshfield Genetic Map1877.36UniSTS
Marshfield Genetic Map1877.36RGD
Genethon Genetic Map1876.1UniSTS
deCODE Assembly Map1876.38UniSTS
GeneMap99-GB4 RH Map18366.94UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18630.1UniSTS
RH12446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,993,439 - 52,993,627UniSTSGRCh37
Build 361851,144,437 - 51,144,625RGDNCBI36
Celera1849,710,807 - 49,710,995RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,703,057 - 49,703,245UniSTS
GeneMap99-GB4 RH Map18371.22UniSTS
NCBI RH Map18630.1UniSTS
SGC30723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,950,458 - 52,950,583UniSTSGRCh37
Build 361851,101,456 - 51,101,581RGDNCBI36
Celera1849,667,826 - 49,667,951RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,660,075 - 49,660,200UniSTS
GeneMap99-GB4 RH Map18373.0UniSTS
Whitehead-RH Map18407.6UniSTS
NCBI RH Map18630.1UniSTS
AFM357td5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,181,466 - 53,181,707UniSTSGRCh37
Build 361851,332,464 - 51,332,705RGDNCBI36
Celera1849,898,132 - 49,898,369RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,891,716 - 49,891,961UniSTS
Whitehead-RH Map18403.6UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18630.1UniSTS
RH92749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,896,800 - 52,896,922UniSTSGRCh37
Build 361851,047,798 - 51,047,920RGDNCBI36
Celera1849,614,170 - 49,614,292RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,606,463 - 49,606,585UniSTS
GeneMap99-GB4 RH Map18372.26UniSTS
RH103297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,928,460 - 52,928,605UniSTSGRCh37
Build 361851,079,458 - 51,079,603RGDNCBI36
Celera1849,645,828 - 49,645,973RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,638,076 - 49,638,221UniSTS
GeneMap99-GB4 RH Map18370.08UniSTS
SHGC-81668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,000,400 - 53,000,676UniSTSGRCh37
Build 361851,151,398 - 51,151,674RGDNCBI36
Celera1849,717,767 - 49,718,043RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,710,018 - 49,710,294UniSTS
TNG Radiation Hybrid Map1821412.0UniSTS
SHGC-84194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,995,257 - 52,995,573UniSTSGRCh37
Build 361851,146,255 - 51,146,571RGDNCBI36
Celera1849,712,624 - 49,712,940RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,704,875 - 49,705,191UniSTS
TNG Radiation Hybrid Map1821412.0UniSTS
RH121599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,137,046 - 53,137,325UniSTSGRCh37
Build 361851,288,044 - 51,288,323RGDNCBI36
Celera1849,853,712 - 49,853,991RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,847,295 - 49,847,574UniSTS
TNG Radiation Hybrid Map1821447.0UniSTS
D18S76E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,087,823 - 53,087,941UniSTSGRCh37
GRCh371853,087,727 - 53,087,878UniSTSGRCh37
Build 361851,238,821 - 51,238,939RGDNCBI36
Celera1849,804,372 - 49,804,523UniSTS
Celera1849,804,468 - 49,804,586RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,798,026 - 49,798,144UniSTS
HuRef1849,797,930 - 49,798,081UniSTS
TNG Radiation Hybrid Map1821479.0UniSTS
GeneMap99-G3 RH Map182017.0UniSTS
SHGC-147092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,122,780 - 53,123,128UniSTSGRCh37
Build 361851,273,778 - 51,274,126RGDNCBI36
Celera1849,839,443 - 49,839,791RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,833,004 - 49,833,352UniSTS
TNG Radiation Hybrid Map1821458.0UniSTS
RH12470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,891,517 - 52,891,652UniSTSGRCh37
Build 361851,042,515 - 51,042,650RGDNCBI36
Celera1849,608,887 - 49,609,022RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,601,180 - 49,601,315UniSTS
GeneMap99-GB4 RH Map18372.48UniSTS
NCBI RH Map18630.1UniSTS
WI-21824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,892,395 - 52,892,666UniSTSGRCh37
Build 361851,043,393 - 51,043,664RGDNCBI36
Celera1849,609,765 - 49,610,036RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,602,058 - 49,602,329UniSTS
GeneMap99-GB4 RH Map18373.53UniSTS
Whitehead-RH Map18401.2UniSTS
PMC97633P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,253,234 - 53,253,493UniSTSGRCh37
Build 361851,404,232 - 51,404,491RGDNCBI36
Celera1849,970,529 - 49,970,752RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,963,491 - 49,963,759UniSTS
D18S1309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,007,454 - 53,007,595UniSTSGRCh37
Build 361851,158,452 - 51,158,593RGDNCBI36
Celera1849,724,821 - 49,724,962RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,717,072 - 49,717,213UniSTS
Stanford-G3 RH Map182017.0UniSTS
GeneMap99-G3 RH Map182017.0UniSTS
RH70760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,928,467 - 52,928,664UniSTSGRCh37
Build 361851,079,465 - 51,079,662RGDNCBI36
Celera1849,645,835 - 49,646,032RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,638,083 - 49,638,280UniSTS
GeneMap99-GB4 RH Map18370.08UniSTS
NCBI RH Map18630.1UniSTS
D18S1030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,007,353 - 53,007,464UniSTSGRCh37
Build 361851,158,351 - 51,158,462RGDNCBI36
Celera1849,724,720 - 49,724,831RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,716,971 - 49,717,082UniSTS
GeneMap99-GB4 RH Map18371.43UniSTS
Whitehead-RH Map18412.2UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18630.1UniSTS
SHGC-57835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,928,372 - 52,928,712UniSTSGRCh37
Build 361851,079,370 - 51,079,710RGDNCBI36
Celera1849,645,740 - 49,646,080RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,637,988 - 49,638,328UniSTS
TNG Radiation Hybrid Map1821378.0UniSTS
D18S1295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,943,781 - 52,943,873UniSTSGRCh37
Build 361851,094,779 - 51,094,871RGDNCBI36
Celera1849,661,149 - 49,661,241RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,653,397 - 49,653,489UniSTS
TNG Radiation Hybrid Map1821371.0UniSTS
Stanford-G3 RH Map182021.0UniSTS
GeneMap99-G3 RH Map182021.0UniSTS
D18S837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,090,570 - 53,090,746UniSTSGRCh37
Build 361851,241,568 - 51,241,744RGDNCBI36
Celera1849,807,215 - 49,807,391RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,800,773 - 49,800,949UniSTS
Whitehead-RH Map18407.6UniSTS
NCBI RH Map18630.1UniSTS
SHGC-64012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371852,893,704 - 52,893,894UniSTSGRCh37
Build 361851,044,702 - 51,044,892RGDNCBI36
Celera1849,611,074 - 49,611,264RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,603,367 - 49,603,557UniSTS
TNG Radiation Hybrid Map1821342.0UniSTS
L29703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371853,029,272 - 53,029,706UniSTSGRCh37
Build 361851,180,270 - 51,180,704RGDNCBI36
Celera1849,746,639 - 49,747,077RGD
Cytogenetic Map18q21.1UniSTS
HuRef1849,738,890 - 49,739,328UniSTS
D18S76E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2382 2788 2251 4950 1722 2321 3 619 1940 460 2246 7242 6455 53 3733 1 844 1719 1594 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001348220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL518903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ989626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM011452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP293388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA664480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB047766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC298029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR748223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY051304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354452   ⟹   ENSP00000346440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,185 - 55,588,192 (-)Ensembl
Ensembl Acc Id: ENST00000356073   ⟹   ENSP00000348374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,334 - 55,588,629 (-)Ensembl
Ensembl Acc Id: ENST00000398339   ⟹   ENSP00000381382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,936 - 55,636,027 (-)Ensembl
Ensembl Acc Id: ENST00000457482   ⟹   ENSP00000409447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,683 - 55,322,222 (-)Ensembl
Ensembl Acc Id: ENST00000537578   ⟹   ENSP00000440731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,752 - 55,589,836 (-)Ensembl
Ensembl Acc Id: ENST00000537856   ⟹   ENSP00000439827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,849 - 55,401,757 (-)Ensembl
Ensembl Acc Id: ENST00000540999   ⟹   ENSP00000445202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,690 - 55,586,105 (-)Ensembl
Ensembl Acc Id: ENST00000543082   ⟹   ENSP00000439656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,689 - 55,510,772 (-)Ensembl
Ensembl Acc Id: ENST00000544241   ⟹   ENSP00000441562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,855 - 55,403,995 (-)Ensembl
Ensembl Acc Id: ENST00000561831   ⟹   ENSP00000457765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,878 - 55,302,626 (-)Ensembl
Ensembl Acc Id: ENST00000561992   ⟹   ENSP00000455179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,864 - 55,422,492 (-)Ensembl
Ensembl Acc Id: ENST00000562030   ⟹   ENSP00000456220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,261,528 - 55,401,525 (-)Ensembl
Ensembl Acc Id: ENST00000562543   ⟹   ENSP00000455450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,955 - 55,591,276 (-)Ensembl
Ensembl Acc Id: ENST00000562607   ⟹   ENSP00000455071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,872 - 55,401,093 (-)Ensembl
Ensembl Acc Id: ENST00000562638   ⟹   ENSP00000456802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,662 - 55,401,712 (-)Ensembl
Ensembl Acc Id: ENST00000562680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,841 - 55,402,039 (-)Ensembl
Ensembl Acc Id: ENST00000562847   ⟹   ENSP00000454866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,967 - 55,585,966 (-)Ensembl
Ensembl Acc Id: ENST00000563686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,264,596 - 55,464,137 (-)Ensembl
Ensembl Acc Id: ENST00000563760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,254,504 - 55,321,810 (-)Ensembl
Ensembl Acc Id: ENST00000563824   ⟹   ENSP00000457113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,360 - 55,585,773 (-)Ensembl
Ensembl Acc Id: ENST00000563888   ⟹   ENSP00000457747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,395 - 55,586,104 (-)Ensembl
Ensembl Acc Id: ENST00000564228   ⟹   ENSP00000455261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,911 - 55,403,714 (-)Ensembl
Ensembl Acc Id: ENST00000564343   ⟹   ENSP00000454328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,896 - 55,591,279 (-)Ensembl
Ensembl Acc Id: ENST00000564403   ⟹   ENSP00000457263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,936 - 55,589,839 (-)Ensembl
Ensembl Acc Id: ENST00000564999   ⟹   ENSP00000457649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,226,646 - 55,588,625 (-)Ensembl
Ensembl Acc Id: ENST00000565018   ⟹   ENSP00000455984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,911 - 55,589,777 (-)Ensembl
Ensembl Acc Id: ENST00000565124   ⟹   ENSP00000457082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,464,115 - 55,635,948 (-)Ensembl
Ensembl Acc Id: ENST00000565393   ⟹   ENSP00000454441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,585,317 - 55,631,362 (-)Ensembl
Ensembl Acc Id: ENST00000565580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,627 - 55,546,934 (-)Ensembl
Ensembl Acc Id: ENST00000565908   ⟹   ENSP00000454584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,707 - 55,588,213 (-)Ensembl
Ensembl Acc Id: ENST00000566279   ⟹   ENSP00000456125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,911 - 55,588,617 (-)Ensembl
Ensembl Acc Id: ENST00000566286   ⟹   ENSP00000455418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,911 - 55,588,535 (-)Ensembl
Ensembl Acc Id: ENST00000566376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,332,067 - 55,403,505 (-)Ensembl
Ensembl Acc Id: ENST00000566514   ⟹   ENSP00000456983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,851 - 55,585,862 (-)Ensembl
Ensembl Acc Id: ENST00000566777   ⟹   ENSP00000457245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,960 - 55,422,355 (-)Ensembl
Ensembl Acc Id: ENST00000567880   ⟹   ENSP00000454366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,911 - 55,587,116 (-)Ensembl
Ensembl Acc Id: ENST00000568147   ⟹   ENSP00000455163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,376 - 55,585,968 (-)Ensembl
Ensembl Acc Id: ENST00000568169   ⟹   ENSP00000457392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,924 - 55,664,787 (-)Ensembl
Ensembl Acc Id: ENST00000568186   ⟹   ENSP00000458122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,660 - 55,403,660 (-)Ensembl
Ensembl Acc Id: ENST00000568673   ⟹   ENSP00000455135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,679 - 55,585,908 (-)Ensembl
Ensembl Acc Id: ENST00000568740   ⟹   ENSP00000455346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,846 - 55,589,806 (-)Ensembl
Ensembl Acc Id: ENST00000569012   ⟹   ENSP00000455304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,875 - 55,401,551 (-)Ensembl
Ensembl Acc Id: ENST00000569357   ⟹   ENSP00000454352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,994 - 55,635,892 (-)Ensembl
Ensembl Acc Id: ENST00000570146   ⟹   ENSP00000468729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,259,621 - 55,275,671 (-)Ensembl
Ensembl Acc Id: ENST00000570177   ⟹   ENSP00000454647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,984 - 55,402,240 (-)Ensembl
Ensembl Acc Id: ENST00000570287   ⟹   ENSP00000455763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,226,644 - 55,321,986 (-)Ensembl
Ensembl Acc Id: ENST00000590810   ⟹   ENSP00000468277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,359 - 55,402,039 (-)Ensembl
Ensembl Acc Id: ENST00000616053   ⟹   ENSP00000478549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,331 - 55,588,629 (-)Ensembl
Ensembl Acc Id: ENST00000625716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,944 - 55,546,896 (-)Ensembl
Ensembl Acc Id: ENST00000625925   ⟹   ENSP00000487413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,958 - 55,422,297 (-)Ensembl
Ensembl Acc Id: ENST00000626425   ⟹   ENSP00000486111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,279,594 - 55,585,852 (-)Ensembl
Ensembl Acc Id: ENST00000626466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,228,260 - 55,257,495 (-)Ensembl
Ensembl Acc Id: ENST00000626584   ⟹   ENSP00000486072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,228,225 - 55,422,356 (-)Ensembl
Ensembl Acc Id: ENST00000626595   ⟹   ENSP00000487415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,745 - 55,588,619 (-)Ensembl
Ensembl Acc Id: ENST00000626631   ⟹   ENSP00000487505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,849 - 55,228,955 (-)Ensembl
Ensembl Acc Id: ENST00000627136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,259,995 - 55,585,856 (-)Ensembl
Ensembl Acc Id: ENST00000627320   ⟹   ENSP00000487557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,461,034 - 55,635,972 (-)Ensembl
Ensembl Acc Id: ENST00000627568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,495,628 - 55,588,243 (-)Ensembl
Ensembl Acc Id: ENST00000627685   ⟹   ENSP00000487171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,724 - 55,586,242 (-)Ensembl
Ensembl Acc Id: ENST00000627784   ⟹   ENSP00000487150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,350,902 - 55,588,150 (-)Ensembl
Ensembl Acc Id: ENST00000628078   ⟹   ENSP00000486909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,260,006 - 55,404,087 (-)Ensembl
Ensembl Acc Id: ENST00000628360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,261,090 - 55,269,849 (-)Ensembl
Ensembl Acc Id: ENST00000628391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,585,292 - 55,635,721 (-)Ensembl
Ensembl Acc Id: ENST00000628636   ⟹   ENSP00000485755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,259,954 - 55,422,241 (-)Ensembl
Ensembl Acc Id: ENST00000628689   ⟹   ENSP00000487010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,254,609 - 55,321,835 (-)Ensembl
Ensembl Acc Id: ENST00000629343   ⟹   ENSP00000486148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,257,362 - 55,422,268 (-)Ensembl
Ensembl Acc Id: ENST00000629387   ⟹   ENSP00000486670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,226,793 - 55,589,807 (-)Ensembl
Ensembl Acc Id: ENST00000630224   ⟹   ENSP00000487134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,461,097 - 55,635,957 (-)Ensembl
Ensembl Acc Id: ENST00000630268   ⟹   ENSP00000486405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,898 - 55,402,206 (-)Ensembl
Ensembl Acc Id: ENST00000630319   ⟹   ENSP00000486215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,914 - 55,585,481 (-)Ensembl
Ensembl Acc Id: ENST00000630712   ⟹   ENSP00000487419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,632 - 55,422,512 (-)Ensembl
Ensembl Acc Id: ENST00000630720   ⟹   ENSP00000487218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,234,606 - 55,322,345 (-)Ensembl
Ensembl Acc Id: ENST00000630828   ⟹   ENSP00000486974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,269,858 - 55,403,764 (-)Ensembl
Ensembl Acc Id: ENST00000631043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,275,697 - 55,423,621 (-)Ensembl
Ensembl Acc Id: ENST00000635822   ⟹   ENSP00000490451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,588,226 (-)Ensembl
Ensembl Acc Id: ENST00000635990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,351,316 (-)Ensembl
Ensembl Acc Id: ENST00000636400   ⟹   ENSP00000490006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,334 - 55,589,778 (-)Ensembl
Ensembl Acc Id: ENST00000636710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,461,101 - 55,469,661 (-)Ensembl
Ensembl Acc Id: ENST00000636751   ⟹   ENSP00000489783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,589,846 (-)Ensembl
Ensembl Acc Id: ENST00000636822   ⟹   ENSP00000490883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,384,196 (-)Ensembl
Ensembl Acc Id: ENST00000637068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,279,566 - 55,320,881 (-)Ensembl
Ensembl Acc Id: ENST00000637115   ⟹   ENSP00000490234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,588,153 (-)Ensembl
Ensembl Acc Id: ENST00000637169   ⟹   ENSP00000490832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,321,640 (-)Ensembl
Ensembl Acc Id: ENST00000637239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,553,421 (-)Ensembl
Ensembl Acc Id: ENST00000637250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,400,917 (-)Ensembl
Ensembl Acc Id: ENST00000637500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,403,512 - 55,404,435 (-)Ensembl
Ensembl Acc Id: ENST00000637923   ⟹   ENSP00000490329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,321,694 (-)Ensembl
Ensembl Acc Id: ENST00000637941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,550,261 - 55,589,746 (-)Ensembl
Ensembl Acc Id: ENST00000638154   ⟹   ENSP00000490625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,335 - 55,587,349 (-)Ensembl
Ensembl Acc Id: ENST00000643689   ⟹   ENSP00000494380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,222,334 - 55,352,023 (-)Ensembl
Ensembl Acc Id: ENST00000674598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,402,451 - 55,589,746 (-)Ensembl
Ensembl Acc Id: ENST00000674764   ⟹   ENSP00000502213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,887 - 55,510,684 (-)Ensembl
Ensembl Acc Id: ENST00000675707   ⟹   ENSP00000501758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1855,227,856 - 55,423,757 (-)Ensembl
RefSeq Acc Id: NM_001083962   ⟹   NP_001077431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
Build 361851,040,560 - 51,406,858 (-)NCBI Archive
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,251,090 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243226   ⟹   NP_001230155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,635,957 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,299,013 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,839,077 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243227   ⟹   NP_001230156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,252,275 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243228   ⟹   NP_001230157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,252,275 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243230   ⟹   NP_001230159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,617 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,251,090 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243231   ⟹   NP_001230160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,510,772 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,173,249 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,713,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243232   ⟹   NP_001230161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,331 - 55,403,995 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,066,472 (-)NCBI
T2T-CHM13v2.01855,425,420 - 55,607,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243233   ⟹   NP_001230162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,422,297 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,084,969 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,625,376 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243234   ⟹   NP_001230163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,321,841 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 52,984,352 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,524,941 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243235   ⟹   NP_001230164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,321,841 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 52,984,352 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,524,941 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243236   ⟹   NP_001230165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,302,660 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 52,965,114 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,505,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306207   ⟹   NP_001293136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,331 - 55,586,119 (-)NCBI
CHM1_11852,884,825 - 53,248,599 (-)NCBI
T2T-CHM13v2.01855,425,420 - 55,789,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306208   ⟹   NP_001293137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,331 - 55,403,995 (-)NCBI
CHM1_11852,884,825 - 53,066,472 (-)NCBI
T2T-CHM13v2.01855,425,420 - 55,607,075 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330604   ⟹   NP_001317533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330605   ⟹   NP_001317534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,401,688 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,604,768 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348211   ⟹   NP_001335140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,510,772 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,713,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348212   ⟹   NP_001335141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,422,297 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,625,376 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348213   ⟹   NP_001335142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,422,297 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,625,376 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348214   ⟹   NP_001335143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,321,841 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,524,941 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348215   ⟹   NP_001335144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,320,935 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,524,035 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348216   ⟹   NP_001335145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,302,660 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,505,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348217   ⟹   NP_001335146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,331 - 55,586,119 (-)NCBI
T2T-CHM13v2.01855,425,420 - 55,789,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348218   ⟹   NP_001335147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,586,122 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,789,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348219   ⟹   NP_001335148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,586,122 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,789,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001348220   ⟹   NP_001335149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,331 - 55,586,119 (-)NCBI
T2T-CHM13v2.01855,425,420 - 55,789,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369567   ⟹   NP_001356496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369568   ⟹   NP_001356497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,617 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369569   ⟹   NP_001356498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,617 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369570   ⟹   NP_001356499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369571   ⟹   NP_001356500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369572   ⟹   NP_001356501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,617 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,669 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369573   ⟹   NP_001356502
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369574   ⟹   NP_001356503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369575   ⟹   NP_001356504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369576   ⟹   NP_001356505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369577   ⟹   NP_001356506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369578   ⟹   NP_001356507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369579   ⟹   NP_001356508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369580   ⟹   NP_001356509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,586,122 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,789,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369581   ⟹   NP_001356510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,586,122 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,789,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369582   ⟹   NP_001356511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369583   ⟹   NP_001356512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369584   ⟹   NP_001356513
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369585   ⟹   NP_001356514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369586   ⟹   NP_001356515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,589,811 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,792,862 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003199   ⟹   NP_003190
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,222,185 - 55,588,192 (-)NCBI
GRCh371852,889,562 - 53,303,252 (-)NCBI
Build 361851,040,560 - 51,406,858 (-)NCBI Archive
HuRef1849,599,225 - 50,013,477 (-)NCBI
CHM1_11852,884,825 - 53,251,090 (-)NCBI
T2T-CHM13v2.01855,425,274 - 55,791,244 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001077431 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230155 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230156 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230160 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230161 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230162 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230165 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335146 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335147 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335148 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335149 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356496 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356497 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356499 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356501 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356502 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356504 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356506 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356507 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356508 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356509 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356510 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356512 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356513 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356514 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356515 (Get FASTA)   NCBI Sequence Viewer  
  NP_003190 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60310 (Get FASTA)   NCBI Sequence Viewer  
  AAA60311 (Get FASTA)   NCBI Sequence Viewer  
  AAA60312 (Get FASTA)   NCBI Sequence Viewer  
  AAC51824 (Get FASTA)   NCBI Sequence Viewer  
  AAI25085 (Get FASTA)   NCBI Sequence Viewer  
  AAI25086 (Get FASTA)   NCBI Sequence Viewer  
  BAD92978 (Get FASTA)   NCBI Sequence Viewer  
  BAG52974 (Get FASTA)   NCBI Sequence Viewer  
  BAG53382 (Get FASTA)   NCBI Sequence Viewer  
  BAG53716 (Get FASTA)   NCBI Sequence Viewer  
  BAG61849 (Get FASTA)   NCBI Sequence Viewer  
  BAG62325 (Get FASTA)   NCBI Sequence Viewer  
  BAH12962 (Get FASTA)   NCBI Sequence Viewer  
  BAH13314 (Get FASTA)   NCBI Sequence Viewer  
  BAH13417 (Get FASTA)   NCBI Sequence Viewer  
  BAH14536 (Get FASTA)   NCBI Sequence Viewer  
  CAA36298 (Get FASTA)   NCBI Sequence Viewer  
  CBY80181 (Get FASTA)   NCBI Sequence Viewer  
  CBY80182 (Get FASTA)   NCBI Sequence Viewer  
  CBY80183 (Get FASTA)   NCBI Sequence Viewer  
  CBY80184 (Get FASTA)   NCBI Sequence Viewer  
  CBY80185 (Get FASTA)   NCBI Sequence Viewer  
  CBY80186 (Get FASTA)   NCBI Sequence Viewer  
  CBY80187 (Get FASTA)   NCBI Sequence Viewer  
  CBY80188 (Get FASTA)   NCBI Sequence Viewer  
  CBY80189 (Get FASTA)   NCBI Sequence Viewer  
  CBY80190 (Get FASTA)   NCBI Sequence Viewer  
  CBY80191 (Get FASTA)   NCBI Sequence Viewer  
  CBY80192 (Get FASTA)   NCBI Sequence Viewer  
  CBY80193 (Get FASTA)   NCBI Sequence Viewer  
  CBY80194 (Get FASTA)   NCBI Sequence Viewer  
  CBY80195 (Get FASTA)   NCBI Sequence Viewer  
  CBY80196 (Get FASTA)   NCBI Sequence Viewer  
  CBY80197 (Get FASTA)   NCBI Sequence Viewer  
  CBY80198 (Get FASTA)   NCBI Sequence Viewer  
  CBY80199 (Get FASTA)   NCBI Sequence Viewer  
  CBY80200 (Get FASTA)   NCBI Sequence Viewer  
  CBY80201 (Get FASTA)   NCBI Sequence Viewer  
  CBY80202 (Get FASTA)   NCBI Sequence Viewer  
  EAW63017 (Get FASTA)   NCBI Sequence Viewer  
  EAW63018 (Get FASTA)   NCBI Sequence Viewer  
  EAW63019 (Get FASTA)   NCBI Sequence Viewer  
  EAW63020 (Get FASTA)   NCBI Sequence Viewer  
  EAW63021 (Get FASTA)   NCBI Sequence Viewer  
  EAW63022 (Get FASTA)   NCBI Sequence Viewer  
  EAW63023 (Get FASTA)   NCBI Sequence Viewer  
  EAW63024 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346440
  ENSP00000346440.3
  ENSP00000348374
  ENSP00000348374.4
  ENSP00000381382
  ENSP00000409447
  ENSP00000409447.2
  ENSP00000439656
  ENSP00000439656.1
  ENSP00000439827
  ENSP00000439827.2
  ENSP00000440731
  ENSP00000440731.1
  ENSP00000441562
  ENSP00000441562.2
  ENSP00000445202
  ENSP00000445202.1
  ENSP00000454366.1
  ENSP00000454647.1
  ENSP00000455135
  ENSP00000455135.1
  ENSP00000455179
  ENSP00000455179.1
  ENSP00000455261
  ENSP00000455261.1
  ENSP00000455346
  ENSP00000455418
  ENSP00000455418.2
  ENSP00000455763
  ENSP00000455763.1
  ENSP00000455984.2
  ENSP00000456125
  ENSP00000456125.1
  ENSP00000457263
  ENSP00000457649
  ENSP00000457649.1
  ENSP00000457765
  ENSP00000457765.1
  ENSP00000478549
  ENSP00000478549.1
  ENSP00000486072.1
  ENSP00000486670
  ENSP00000486670.1
  ENSP00000490006.1
  ENSP00000490625
  ENSP00000490832
  ENSP00000494380
  ENSP00000501758
GenBank Protein P15884 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003190   ⟸   NM_003199
- Peptide Label: isoform b
- UniProtKB: Q15440 (UniProtKB/Swiss-Prot),   Q15439 (UniProtKB/Swiss-Prot),   Q08AP3 (UniProtKB/Swiss-Prot),   Q08AP2 (UniProtKB/Swiss-Prot),   H3BPQ1 (UniProtKB/Swiss-Prot),   G0LNV2 (UniProtKB/Swiss-Prot),   G0LNV1 (UniProtKB/Swiss-Prot),   G0LNV0 (UniProtKB/Swiss-Prot),   G0LNU9 (UniProtKB/Swiss-Prot),   G0LNU8 (UniProtKB/Swiss-Prot),   G0LNU5 (UniProtKB/Swiss-Prot),   G0LNU4 (UniProtKB/Swiss-Prot),   G0LNU2 (UniProtKB/Swiss-Prot),   G0LNU1 (UniProtKB/Swiss-Prot),   G0LNU0 (UniProtKB/Swiss-Prot),   G0LNT9 (UniProtKB/Swiss-Prot),   B7Z6Y1 (UniProtKB/Swiss-Prot),   B7Z5M6 (UniProtKB/Swiss-Prot),   B4DUG3 (UniProtKB/Swiss-Prot),   B4DT37 (UniProtKB/Swiss-Prot),   B3KUC0 (UniProtKB/Swiss-Prot),   B3KT62 (UniProtKB/Swiss-Prot),   Q15441 (UniProtKB/Swiss-Prot),   P15884 (UniProtKB/Swiss-Prot),   B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001077431   ⟸   NM_001083962
- Peptide Label: isoform a
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230155   ⟸   NM_001243226
- Peptide Label: isoform c precursor
- UniProtKB: E9PH57 (UniProtKB/TrEMBL),   A0A1B0GVR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230156   ⟸   NM_001243227
- Peptide Label: isoform d
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230157   ⟸   NM_001243228
- Peptide Label: isoform e
- UniProtKB: H3BTP3 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230159   ⟸   NM_001243230
- Peptide Label: isoform f
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230160   ⟸   NM_001243231
- Peptide Label: isoform g
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230162   ⟸   NM_001243233
- Peptide Label: isoform i
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230161   ⟸   NM_001243232
- Peptide Label: isoform h
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230164   ⟸   NM_001243235
- Peptide Label: isoform k
- UniProtKB: P15884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230163   ⟸   NM_001243234
- Peptide Label: isoform j
- UniProtKB: P15884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230165   ⟸   NM_001243236
- Peptide Label: isoform l
- UniProtKB: P15884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001293136   ⟸   NM_001306207
- Peptide Label: isoform m
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293137   ⟸   NM_001306208
- Peptide Label: isoform n
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317533   ⟸   NM_001330604
- Peptide Label: isoform o
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335148   ⟸   NM_001348219
- Peptide Label: isoform m
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335147   ⟸   NM_001348218
- Peptide Label: isoform d
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335149   ⟸   NM_001348220
- Peptide Label: isoform u
- UniProtKB: H3BPJ7 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335146   ⟸   NM_001348217
- Peptide Label: isoform d
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335140   ⟸   NM_001348211
- Peptide Label: isoform q
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335141   ⟸   NM_001348212
- Peptide Label: isoform i
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335142   ⟸   NM_001348213
- Peptide Label: isoform p
- UniProtKB: A0A1B0GWD5 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317534   ⟸   NM_001330605
- Peptide Label: isoform p
- UniProtKB: A0A1B0GWD5 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335143   ⟸   NM_001348214
- Peptide Label: isoform r
- UniProtKB: P15884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335144   ⟸   NM_001348215
- Peptide Label: isoform s
- UniProtKB: A0A1B0GW91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001335145   ⟸   NM_001348216
- Peptide Label: isoform t
- UniProtKB: P15884 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356513   ⟸   NM_001369584
- Peptide Label: isoform u
- UniProtKB: H3BPJ7 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356505   ⟸   NM_001369576
- Peptide Label: isoform y
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356506   ⟸   NM_001369577
- Peptide Label: isoform 28
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356511   ⟸   NM_001369582
- Peptide Label: isoform m
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356515   ⟸   NM_001369586
- Peptide Label: isoform z
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356500   ⟸   NM_001369571
- Peptide Label: isoform b
- UniProtKB: Q15440 (UniProtKB/Swiss-Prot),   Q15439 (UniProtKB/Swiss-Prot),   Q08AP3 (UniProtKB/Swiss-Prot),   Q08AP2 (UniProtKB/Swiss-Prot),   P15884 (UniProtKB/Swiss-Prot),   H3BPQ1 (UniProtKB/Swiss-Prot),   G0LNV2 (UniProtKB/Swiss-Prot),   G0LNV1 (UniProtKB/Swiss-Prot),   G0LNV0 (UniProtKB/Swiss-Prot),   G0LNU9 (UniProtKB/Swiss-Prot),   G0LNU8 (UniProtKB/Swiss-Prot),   G0LNU5 (UniProtKB/Swiss-Prot),   G0LNU4 (UniProtKB/Swiss-Prot),   G0LNU2 (UniProtKB/Swiss-Prot),   G0LNU1 (UniProtKB/Swiss-Prot),   G0LNU0 (UniProtKB/Swiss-Prot),   G0LNT9 (UniProtKB/Swiss-Prot),   B7Z6Y1 (UniProtKB/Swiss-Prot),   B7Z5M6 (UniProtKB/Swiss-Prot),   B4DUG3 (UniProtKB/Swiss-Prot),   B4DT37 (UniProtKB/Swiss-Prot),   B3KUC0 (UniProtKB/Swiss-Prot),   B3KT62 (UniProtKB/Swiss-Prot),   Q15441 (UniProtKB/Swiss-Prot),   B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356496   ⟸   NM_001369567
- Peptide Label: isoform a
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356498   ⟸   NM_001369569
- Peptide Label: isoform v
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356501   ⟸   NM_001369572
- Peptide Label: isoform b
- UniProtKB: Q15440 (UniProtKB/Swiss-Prot),   Q15439 (UniProtKB/Swiss-Prot),   Q08AP3 (UniProtKB/Swiss-Prot),   Q08AP2 (UniProtKB/Swiss-Prot),   P15884 (UniProtKB/Swiss-Prot),   H3BPQ1 (UniProtKB/Swiss-Prot),   G0LNV2 (UniProtKB/Swiss-Prot),   G0LNV1 (UniProtKB/Swiss-Prot),   G0LNV0 (UniProtKB/Swiss-Prot),   G0LNU9 (UniProtKB/Swiss-Prot),   G0LNU8 (UniProtKB/Swiss-Prot),   G0LNU5 (UniProtKB/Swiss-Prot),   G0LNU4 (UniProtKB/Swiss-Prot),   G0LNU2 (UniProtKB/Swiss-Prot),   G0LNU1 (UniProtKB/Swiss-Prot),   G0LNU0 (UniProtKB/Swiss-Prot),   G0LNT9 (UniProtKB/Swiss-Prot),   B7Z6Y1 (UniProtKB/Swiss-Prot),   B7Z5M6 (UniProtKB/Swiss-Prot),   B4DUG3 (UniProtKB/Swiss-Prot),   B4DT37 (UniProtKB/Swiss-Prot),   B3KUC0 (UniProtKB/Swiss-Prot),   B3KT62 (UniProtKB/Swiss-Prot),   Q15441 (UniProtKB/Swiss-Prot),   B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356497   ⟸   NM_001369568
- Peptide Label: isoform a
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356514   ⟸   NM_001369585
- Peptide Label: isoform u
- UniProtKB: H3BPJ7 (UniProtKB/TrEMBL),   B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356507   ⟸   NM_001369578
- Peptide Label: isoform y
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356508   ⟸   NM_001369579
- Peptide Label: isoform 28
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356512   ⟸   NM_001369583
- Peptide Label: isoform m
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356504   ⟸   NM_001369575
- Peptide Label: isoform d
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356502   ⟸   NM_001369573
- Peptide Label: isoform x
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356499   ⟸   NM_001369570
- Peptide Label: isoform v
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356503   ⟸   NM_001369574
- Peptide Label: isoform 27
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356510   ⟸   NM_001369581
- Peptide Label: isoform y
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356509   ⟸   NM_001369580
- Peptide Label: isoform 28
- UniProtKB: B3KVA4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381382   ⟸   ENST00000398339
Ensembl Acc Id: ENSP00000490451   ⟸   ENST00000635822
Ensembl Acc Id: ENSP00000490006   ⟸   ENST00000636400
Ensembl Acc Id: ENSP00000439656   ⟸   ENST00000543082
Ensembl Acc Id: ENSP00000490883   ⟸   ENST00000636822
Ensembl Acc Id: ENSP00000489783   ⟸   ENST00000636751
Ensembl Acc Id: ENSP00000490832   ⟸   ENST00000637169
Ensembl Acc Id: ENSP00000490329   ⟸   ENST00000637923
Ensembl Acc Id: ENSP00000441562   ⟸   ENST00000544241
Ensembl Acc Id: ENSP00000490234   ⟸   ENST00000637115
Ensembl Acc Id: ENSP00000455763   ⟸   ENST00000570287
Ensembl Acc Id: ENSP00000454647   ⟸   ENST00000570177
Ensembl Acc Id: ENSP00000468729   ⟸   ENST00000570146
Ensembl Acc Id: ENSP00000490625   ⟸   ENST00000638154
Ensembl Acc Id: ENSP00000487413   ⟸   ENST00000625925
Ensembl Acc Id: ENSP00000487505   ⟸   ENST00000626631
Ensembl Acc Id: ENSP00000486072   ⟸   ENST00000626584
Ensembl Acc Id: ENSP00000487415   ⟸   ENST00000626595
Ensembl Acc Id: ENSP00000486111   ⟸   ENST00000626425
Ensembl Acc Id: ENSP00000487557   ⟸   ENST00000627320
Ensembl Acc Id: ENSP00000487150   ⟸   ENST00000627784
Ensembl Acc Id: ENSP00000487171   ⟸   ENST00000627685
Ensembl Acc Id: ENSP00000486909   ⟸   ENST00000628078
Ensembl Acc Id: ENSP00000409447   ⟸   ENST00000457482
Ensembl Acc Id: ENSP00000485755   ⟸   ENST00000628636
Ensembl Acc Id: ENSP00000487010   ⟸   ENST00000628689
Ensembl Acc Id: ENSP00000457765   ⟸   ENST00000561831
Ensembl Acc Id: ENSP00000486148   ⟸   ENST00000629343
Ensembl Acc Id: ENSP00000486670   ⟸   ENST00000629387
Ensembl Acc Id: ENSP00000455179   ⟸   ENST00000561992
Ensembl Acc Id: ENSP00000454866   ⟸   ENST00000562847
Ensembl Acc Id: ENSP00000439827   ⟸   ENST00000537856
Ensembl Acc Id: ENSP00000478549   ⟸   ENST00000616053
Ensembl Acc Id: ENSP00000456220   ⟸   ENST00000562030
Ensembl Acc Id: ENSP00000456802   ⟸   ENST00000562638
Ensembl Acc Id: ENSP00000455071   ⟸   ENST00000562607
Ensembl Acc Id: ENSP00000455450   ⟸   ENST00000562543
Ensembl Acc Id: ENSP00000440731   ⟸   ENST00000537578
Ensembl Acc Id: ENSP00000457113   ⟸   ENST00000563824
Ensembl Acc Id: ENSP00000457747   ⟸   ENST00000563888
Ensembl Acc Id: ENSP00000454328   ⟸   ENST00000564343
Ensembl Acc Id: ENSP00000457263   ⟸   ENST00000564403
Ensembl Acc Id: ENSP00000455261   ⟸   ENST00000564228
Ensembl Acc Id: ENSP00000494380   ⟸   ENST00000643689
Ensembl Acc Id: ENSP00000346440   ⟸   ENST00000354452
Ensembl Acc Id: ENSP00000457649   ⟸   ENST00000564999
Ensembl Acc Id: ENSP00000454441   ⟸   ENST00000565393
Ensembl Acc Id: ENSP00000457082   ⟸   ENST00000565124
Ensembl Acc Id: ENSP00000455984   ⟸   ENST00000565018
Ensembl Acc Id: ENSP00000468277   ⟸   ENST00000590810
Ensembl Acc Id: ENSP00000486215   ⟸   ENST00000630319
Ensembl Acc Id: ENSP00000487134   ⟸   ENST00000630224
Ensembl Acc Id: ENSP00000486405   ⟸   ENST00000630268
Ensembl Acc Id: ENSP00000454584   ⟸   ENST00000565908
Ensembl Acc Id: ENSP00000456983   ⟸   ENST00000566514
Ensembl Acc Id: ENSP00000457245   ⟸   ENST00000566777
Ensembl Acc Id: ENSP00000486974   ⟸   ENST00000630828
Ensembl Acc Id: ENSP00000487218   ⟸   ENST00000630720
Ensembl Acc Id: ENSP00000487419   ⟸   ENST00000630712
Ensembl Acc Id: ENSP00000456125   ⟸   ENST00000566279
Ensembl Acc Id: ENSP00000455418   ⟸   ENST00000566286
Ensembl Acc Id: ENSP00000348374   ⟸   ENST00000356073
Ensembl Acc Id: ENSP00000454366   ⟸   ENST00000567880
Ensembl Acc Id: ENSP00000457392   ⟸   ENST00000568169
Ensembl Acc Id: ENSP00000458122   ⟸   ENST00000568186
Ensembl Acc Id: ENSP00000455163   ⟸   ENST00000568147
Ensembl Acc Id: ENSP00000455346   ⟸   ENST00000568740
Ensembl Acc Id: ENSP00000455135   ⟸   ENST00000568673
Ensembl Acc Id: ENSP00000454352   ⟸   ENST00000569357
Ensembl Acc Id: ENSP00000455304   ⟸   ENST00000569012
Ensembl Acc Id: ENSP00000445202   ⟸   ENST00000540999
Ensembl Acc Id: ENSP00000502213   ⟸   ENST00000674764
Ensembl Acc Id: ENSP00000501758   ⟸   ENST00000675707
Protein Domains
bHLH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15884-F1-model_v2 AlphaFold P15884 1-667 view protein structure

Promoters
RGD ID:6795015
Promoter ID:HG_KWN:28055
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002LFV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,097,526 - 51,098,026 (-)MPROMDB
RGD ID:6795019
Promoter ID:HG_KWN:28056
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002LGB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,120,351 - 51,120,851 (-)MPROMDB
RGD ID:6795017
Promoter ID:HG_KWN:28057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002LFW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,139,961 - 51,140,852 (-)MPROMDB
RGD ID:6795016
Promoter ID:HG_KWN:28060
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002LFY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,328,971 - 51,329,471 (-)MPROMDB
RGD ID:6811468
Promoter ID:HG_ACW:38310
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:TCF4.VCAPR07,   TCF4.VMAPR07,   TCF4.VOAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,405,046 - 51,405,546 (-)MPROMDB
RGD ID:6795013
Promoter ID:HG_KWN:28061
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_001083962,   NM_003199
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,406,311 - 51,406,932 (-)MPROMDB
RGD ID:6795020
Promoter ID:HG_KWN:28062
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC010DPI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361851,407,891 - 51,408,391 (-)MPROMDB
RGD ID:7237383
Promoter ID:EPDNEW_H24437
Type:initiation region
Name:TCF4_5
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,302,638 - 55,302,698EPDNEW
RGD ID:7237385
Promoter ID:EPDNEW_H24438
Type:initiation region
Name:TCF4_7
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,322,224 - 55,322,284EPDNEW
RGD ID:7237387
Promoter ID:EPDNEW_H24439
Type:initiation region
Name:TCF4_1
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,401,688 - 55,401,748EPDNEW
RGD ID:7237389
Promoter ID:EPDNEW_H24440
Type:initiation region
Name:TCF4_9
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,401,980 - 55,402,040EPDNEW
RGD ID:7237391
Promoter ID:EPDNEW_H24441
Type:initiation region
Name:TCF4_4
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,403,640 - 55,403,700EPDNEW
RGD ID:7237393
Promoter ID:EPDNEW_H24442
Type:initiation region
Name:TCF4_6
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24443  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,510,772 - 55,510,832EPDNEW
RGD ID:7237395
Promoter ID:EPDNEW_H24443
Type:initiation region
Name:TCF4_2
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24444  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,588,192 - 55,588,252EPDNEW
RGD ID:7237397
Promoter ID:EPDNEW_H24444
Type:multiple initiation site
Name:TCF4_3
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,588,615 - 55,588,675EPDNEW
RGD ID:7237399
Promoter ID:EPDNEW_H24445
Type:initiation region
Name:TCF4_8
Description:transcription factor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24437  EPDNEW_H24438  EPDNEW_H24439  EPDNEW_H24440  EPDNEW_H24441  EPDNEW_H24442  EPDNEW_H24443  EPDNEW_H24444  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381855,635,954 - 55,636,014EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11634 AgrOrtholog
COSMIC TCF4 COSMIC
Ensembl Genes ENSG00000196628 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354452 ENTREZGENE
  ENST00000354452.8 UniProtKB/Swiss-Prot
  ENST00000356073 ENTREZGENE
  ENST00000356073.8 UniProtKB/Swiss-Prot
  ENST00000398339 ENTREZGENE
  ENST00000457482 ENTREZGENE
  ENST00000457482.7 UniProtKB/Swiss-Prot
  ENST00000537578 ENTREZGENE
  ENST00000537578.5 UniProtKB/Swiss-Prot
  ENST00000537856 ENTREZGENE
  ENST00000537856.7 UniProtKB/Swiss-Prot
  ENST00000540999 ENTREZGENE
  ENST00000540999.5 UniProtKB/Swiss-Prot
  ENST00000543082 ENTREZGENE
  ENST00000543082.5 UniProtKB/Swiss-Prot
  ENST00000544241 ENTREZGENE
  ENST00000544241.6 UniProtKB/Swiss-Prot
  ENST00000561831 ENTREZGENE
  ENST00000561831.7 UniProtKB/Swiss-Prot
  ENST00000561992 ENTREZGENE
  ENST00000561992.5 UniProtKB/Swiss-Prot
  ENST00000564228 ENTREZGENE
  ENST00000564228.5 UniProtKB/Swiss-Prot
  ENST00000564403 ENTREZGENE
  ENST00000564999 ENTREZGENE
  ENST00000564999.5 UniProtKB/Swiss-Prot
  ENST00000565018.6 UniProtKB/Swiss-Prot
  ENST00000566279 ENTREZGENE
  ENST00000566279.5 UniProtKB/Swiss-Prot
  ENST00000566286 ENTREZGENE
  ENST00000566286.5 UniProtKB/Swiss-Prot
  ENST00000567880.5 UniProtKB/Swiss-Prot
  ENST00000568673 ENTREZGENE
  ENST00000568673.5 UniProtKB/Swiss-Prot
  ENST00000568740 ENTREZGENE
  ENST00000570177.6 UniProtKB/Swiss-Prot
  ENST00000570287 ENTREZGENE
  ENST00000570287.6 UniProtKB/Swiss-Prot
  ENST00000616053 ENTREZGENE
  ENST00000616053.4 UniProtKB/Swiss-Prot
  ENST00000626584.2 UniProtKB/Swiss-Prot
  ENST00000629387 ENTREZGENE
  ENST00000629387.2 UniProtKB/Swiss-Prot
  ENST00000636400.2 UniProtKB/Swiss-Prot
  ENST00000637169 ENTREZGENE
  ENST00000638154 ENTREZGENE
  ENST00000643689 ENTREZGENE
  ENST00000675707 ENTREZGENE
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000196628 GTEx
HGNC ID HGNC:11634 ENTREZGENE
Human Proteome Map TCF4 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
  NeuroDiff_E-box_TFs UniProtKB/Swiss-Prot
KEGG Report hsa:6925 UniProtKB/Swiss-Prot
NCBI Gene 6925 ENTREZGENE
OMIM 602272 OMIM
PANTHER BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot
  TRANSCRIPTION FACTOR 4 UniProtKB/Swiss-Prot
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA164742621 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt A0A075B723_HUMAN UniProtKB/TrEMBL
  A0A0D9SEK1_HUMAN UniProtKB/TrEMBL
  A0A0D9SEX8_HUMAN UniProtKB/TrEMBL
  A0A0D9SEZ3_HUMAN UniProtKB/TrEMBL
  A0A0D9SF18_HUMAN UniProtKB/TrEMBL
  A0A0D9SF97_HUMAN UniProtKB/TrEMBL
  A0A0D9SFU5_HUMAN UniProtKB/TrEMBL
  A0A0D9SFX5_HUMAN UniProtKB/TrEMBL
  A0A0D9SFZ1_HUMAN UniProtKB/TrEMBL
  A0A0D9SG44_HUMAN UniProtKB/TrEMBL
  A0A0D9SG55_HUMAN UniProtKB/TrEMBL
  A0A0D9SG61_HUMAN UniProtKB/TrEMBL
  A0A0D9SG78_HUMAN UniProtKB/TrEMBL
  A0A0D9SGE4_HUMAN UniProtKB/TrEMBL
  A0A0D9SGE5_HUMAN UniProtKB/TrEMBL
  A0A0D9SGE7_HUMAN UniProtKB/TrEMBL
  A0A0D9SGH7_HUMAN UniProtKB/TrEMBL
  A0A0D9SGJ4_HUMAN UniProtKB/TrEMBL
  A0A0E3D6N2_HUMAN UniProtKB/TrEMBL
  A0A1B0GTP2_HUMAN UniProtKB/TrEMBL
  A0A1B0GUT3_HUMAN UniProtKB/TrEMBL
  A0A1B0GV10_HUMAN UniProtKB/TrEMBL
  A0A1B0GVB8_HUMAN UniProtKB/TrEMBL
  A0A1B0GVR6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GW91 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GWD5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GXH5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGE3_HUMAN UniProtKB/TrEMBL
  B3KT62 ENTREZGENE
  B3KUC0 ENTREZGENE
  B3KVA4 ENTREZGENE, UniProtKB/TrEMBL
  B4DT37 ENTREZGENE
  B4DUG3 ENTREZGENE
  B7Z5M6 ENTREZGENE
  B7Z6Y1 ENTREZGENE
  E9PH57 ENTREZGENE, UniProtKB/TrEMBL
  G0LNT1_HUMAN UniProtKB/TrEMBL
  G0LNT2_HUMAN UniProtKB/TrEMBL
  G0LNT3_HUMAN UniProtKB/TrEMBL
  G0LNT4_HUMAN UniProtKB/TrEMBL
  G0LNT5_HUMAN UniProtKB/TrEMBL
  G0LNT6_HUMAN UniProtKB/TrEMBL
  G0LNT7_HUMAN UniProtKB/TrEMBL
  G0LNT8_HUMAN UniProtKB/TrEMBL
  G0LNT9 ENTREZGENE
  G0LNU0 ENTREZGENE
  G0LNU1 ENTREZGENE
  G0LNU2 ENTREZGENE
  G0LNU4 ENTREZGENE
  G0LNU5 ENTREZGENE
  G0LNU8 ENTREZGENE
  G0LNU9 ENTREZGENE
  G0LNV0 ENTREZGENE
  G0LNV1 ENTREZGENE
  G0LNV2 ENTREZGENE
  H3BMC8_HUMAN UniProtKB/TrEMBL
  H3BME8_HUMAN UniProtKB/TrEMBL
  H3BML7_HUMAN UniProtKB/TrEMBL
  H3BNI2_HUMAN UniProtKB/TrEMBL
  H3BNZ2_HUMAN UniProtKB/TrEMBL
  H3BP59_HUMAN UniProtKB/TrEMBL
  H3BPG3_HUMAN UniProtKB/TrEMBL
  H3BPJ7 ENTREZGENE, UniProtKB/TrEMBL
  H3BPQ1 ENTREZGENE
  H3BRF7_HUMAN UniProtKB/TrEMBL
  H3BT24_HUMAN UniProtKB/TrEMBL
  H3BT95_HUMAN UniProtKB/TrEMBL
  H3BTC3_HUMAN UniProtKB/TrEMBL
  H3BTM9_HUMAN UniProtKB/TrEMBL
  H3BTP3 ENTREZGENE, UniProtKB/TrEMBL
  H3BTZ0_HUMAN UniProtKB/TrEMBL
  H3BUQ3_HUMAN UniProtKB/TrEMBL
  ITF2_HUMAN UniProtKB/Swiss-Prot
  K7ESI6_HUMAN UniProtKB/TrEMBL
  P15884 ENTREZGENE
  Q08AP2 ENTREZGENE
  Q08AP3 ENTREZGENE
  Q15439 ENTREZGENE
  Q15440 ENTREZGENE
  Q15441 ENTREZGENE
UniProt Secondary B3KT62 UniProtKB/Swiss-Prot
  B3KUC0 UniProtKB/Swiss-Prot
  B4DT37 UniProtKB/Swiss-Prot
  B4DUG3 UniProtKB/Swiss-Prot
  B7Z5M6 UniProtKB/Swiss-Prot
  B7Z6Y1 UniProtKB/Swiss-Prot
  G0LNT9 UniProtKB/Swiss-Prot
  G0LNU0 UniProtKB/Swiss-Prot
  G0LNU1 UniProtKB/Swiss-Prot
  G0LNU2 UniProtKB/Swiss-Prot
  G0LNU4 UniProtKB/Swiss-Prot
  G0LNU5 UniProtKB/Swiss-Prot
  G0LNU8 UniProtKB/Swiss-Prot
  G0LNU9 UniProtKB/Swiss-Prot
  G0LNV0 UniProtKB/Swiss-Prot
  G0LNV1 UniProtKB/Swiss-Prot
  G0LNV2 UniProtKB/Swiss-Prot
  H3BPQ1 UniProtKB/Swiss-Prot
  Q08AP2 UniProtKB/Swiss-Prot
  Q08AP3 UniProtKB/Swiss-Prot
  Q15439 UniProtKB/Swiss-Prot
  Q15440 UniProtKB/Swiss-Prot
  Q15441 UniProtKB/Swiss-Prot