TP63 (tumor protein p63) - Rat Genome Database

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Gene: TP63 (tumor protein p63) Homo sapiens
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Symbol: TP63
Name: tumor protein p63
RGD ID: 1604844
HGNC Page HGNC:15979
Description: Enables several functions, including MDM2/MDM4 family protein binding activity; WW domain binding activity; and p53 binding activity. Involved in several processes, including negative regulation of cellular senescence; positive regulation of Notch signaling pathway; and regulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. Part of chromatin. Implicated in several diseases, including ADULT syndrome; EEC syndrome (multiple); ectodermal dysplasia (multiple); orofacial cleft 8; and split hand-foot malformation 4. Biomarker of cervix uteri carcinoma in situ; prostate carcinoma in situ; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIS; amplified in squamous cell carcinoma; B(p51A); B(p51B); chronic ulcerative stomatitis protein; CUSP; EEC3; keratinocyte transcription factor KET; KET; LMS; NBP; OFC8; p40; p51; p53CP; p63; p73H; p73L; RHS; SHFM4; TP53CP; TP53L; TP73L; transformation-related protein 63; tumor protein 63; tumor protein p53-competing protein; tumor protein p53-like; tumor protein p63 deltaN isoform delta; tumor protein p73-like
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383189,596,746 - 189,897,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3189,631,389 - 189,897,276 (+)EnsemblGRCh38hg38GRCh38
GRCh373189,314,535 - 189,615,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363190,831,910 - 191,097,759 (+)NCBINCBI36Build 36hg18NCBI36
Celera3187,783,803 - 188,042,610 (+)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3186,752,882 - 187,012,887 (+)NCBIHuRef
CHM1_13189,312,090 - 189,577,623 (+)NCBICHM1_1
T2T-CHM13v2.03192,413,470 - 192,713,713 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenocarcinoma  (EXP)
ADULT syndrome  (EXP,IAGP)
amenorrhea  (IAGP)
Ankyloblepharon Filiforme Adnatum  (IAGP)
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (EXP,IAGP,ISS)
Auditory Neuropathy  (IAGP)
bladder exstrophy  (ISS)
bladder exstrophy-epispadias-cloacal exstrophy complex  (IAGP)
breast disease  (EXP)
Breast Neoplasms  (ISO)
carcinoma  (EXP)
cervix uteri carcinoma in situ  (IEP)
cleft lip  (EXP,IAGP)
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8  (IAGP)
cleft palate  (EXP)
Colorectal Neoplasms  (EXP)
Congenital Foot Deformities  (EXP)
Congenital Hand Deformities  (EXP)
Congenital Limb Deformities  (EXP,IAGP)
Corneal Injuries  (ISO)
Craniofacial Abnormalities  (EXP)
ectodermal dysplasia  (IAGP)
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (EXP,IAGP,ISS)
EEC syndrome  (EXP,IAGP,ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Neoplasms  (ISO)
Female Urogenital Diseases  (EXP)
fissured tongue  (IAGP)
gastroesophageal reflux disease  (ISS)
genetic disease  (IAGP)
Limb-Mammary Syndrome  (EXP,IAGP)
lung adenocarcinoma  (EXP)
lung cancer  (IAGP)
Lung Neoplasms  (EXP)
Multiple Abnormalities  (EXP)
muscular dystrophy  (IAGP)
Neoplasm Metastasis  (EXP)
Neoplastic Cell Transformation  (EXP)
orofacial cleft 8  (IAGP)
osteochondrodysplasia  (IAGP)
Ovarian Neoplasms  (EXP,IAGP)
pancreatic cancer  (EXP)
primary ovarian insufficiency  (IAGP)
Primary Ovarian Insufficiency 21  (IAGP)
prostate cancer  (IAGP)
prostate carcinoma in situ  (IEP,ISO)
Prostatic Neoplasms  (IEP,ISO)
Rapp-Hodgkin syndrome  (EXP,IAGP)
schizophrenia  (IAGP)
Skin Abnormalities  (EXP)
split hand-foot malformation  (IAGP)
split hand-foot malformation 4  (EXP,IAGP)
squamous cell carcinoma  (EXP)
squamous cell neoplasm  (EXP)
Sweat Gland Neoplasms  (EXP)
transitional cell carcinoma  (IMP)
urinary bladder cancer  (IEP)
Urologic Neoplasms  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dibromoethane  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-dichloroaniline  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
antimonite  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
butane-2,3-dione  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chrysin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cycloheximide  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (ISO)
diiodine  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
emodin  (ISO)
entinostat  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
ethylenediaminetetraacetic acid  (EXP)
eugenol  (EXP)
formaldehyde  (EXP)
fructose  (ISO)
fulvestrant  (EXP)
Fusarenone X  (ISO)
genistein  (EXP,ISO)
glucose  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
graphite  (ISO)
hydroxyurea  (ISO)
isobutanol  (EXP)
kaempferol  (EXP)
ketoconazole  (ISO)
lactacystin  (EXP)
lead diacetate  (ISO)
leptomycin B  (EXP)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
luteolin  (EXP)
melphalan  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
myricetin  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel dichloride  (EXP)
Octicizer  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
progesterone  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
quinolin-8-ol  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sirolimus  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (IEA,ISO)
animal organ morphogenesis  (IEA,ISO)
apoptotic process  (IEA,TAS)
cellular senescence  (IEA,ISO)
chromatin remodeling  (IEA,ISO)
cloacal septation  (IEA,ISO)
cranial skeletal system development  (IEA,ISO)
determination of adult lifespan  (IEA,ISO)
DNA damage response  (IDA)
ectoderm and mesoderm interaction  (IEA,ISO)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
epidermal cell differentiation  (IEA,ISO)
epidermal cell division  (IEA,ISO)
epidermis development  (IEA,ISO)
epithelial cell development  (IEA,ISO)
epithelial cell differentiation  (IEA,ISO)
establishment of planar polarity  (IEA,ISO)
establishment of skin barrier  (IEA,ISS)
female genitalia morphogenesis  (IEA,ISO)
hair follicle development  (IEA,ISO)
hair follicle morphogenesis  (IEA,ISO)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA,ISO)
keratinocyte differentiation  (IEA,ISO)
keratinocyte proliferation  (IEA,ISO)
morphogenesis of a polarized epithelium  (IEA,ISO)
negative regulation of cellular senescence  (IMP)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of intracellular estrogen receptor signaling pathway  (IEA)
negative regulation of keratinocyte differentiation  (IEA,ISO)
negative regulation of mesoderm development  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neuron apoptotic process  (IEA,ISO)
Notch signaling pathway  (IEA,ISO)
odontogenesis of dentin-containing tooth  (IEA,ISO)
pattern specification process  (IEA,ISO)
polarized epithelial cell differentiation  (IEA,ISO)
positive regulation of apoptotic signaling pathway  (IEA,ISO)
positive regulation of cell cycle G1/S phase transition  (IMP)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP,NAS)
positive regulation of fibroblast apoptotic process  (IDA)
positive regulation of keratinocyte proliferation  (IEA,ISO)
positive regulation of Notch signaling pathway  (IDA,IEA,ISO)
positive regulation of osteoblast differentiation  (IMP)
positive regulation of somatic stem cell population maintenance  (IEA)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
post-anal tail morphogenesis  (IEA,ISO)
prostate gland development  (IEA,ISO)
prostatic bud formation  (IEA,ISO)
protein tetramerization  (IEA)
proximal/distal pattern formation  (IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of epidermal cell division  (IEA,ISS)
regulation of transcription by RNA polymerase II  (IBA,IEA)
skeletal system development  (IEA,ISO)
skin epidermis development  (IEA,ISO)
skin morphogenesis  (IEA,ISO)
spermatogenesis  (IEA,ISO)
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
sympathetic nervous system development  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)

Cellular Component
chromatin  (IDA,ISA)
cytoplasm  (IDA,IEA)
dendrite  (IEA,ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,NAS)
protein-containing complex  (IEA,ISO)

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

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
3-4 finger cutaneous syndactyly  (IAGP)
Abnormal clitoris morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal Eustachian tube morphology  (IAGP)
Abnormal nasal morphology  (IAGP)
Abnormal nasal septum morphology  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal number of permanent teeth  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of dental eruption  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the middle ear  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the ureter  (IAGP)
Absence of Stensen duct  (IAGP)
Absent eyelashes  (IAGP)
Absent hand  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent nipple  (IAGP)
Adermatoglyphia  (IAGP)
Agenesis of lateral incisor  (IAGP)
Alacrima  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Amniotic constriction ring  (IAGP)
Anal stenosis  (IAGP)
Anhidrosis  (IAGP)
Anhidrotic ectodermal dysplasia  (IAGP)
Aniridia  (IAGP)
Ankyloblepharon  (IAGP)
Anonychia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia of the ovary  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia/Hypoplasia involving the metacarpal bones  (IAGP)
Aplasia/Hypoplasia of metatarsal bones  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Aplasia/Hypoplasia of the phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral breast hypoplasia  (IAGP)
Bilateral choanal atresia  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral cleft palate  (IAGP)
Bladder diverticulum  (IAGP)
Bladder exstrophy  (IAGP)
Blepharitis  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Bowel incontinence  (IAGP)
Breast aplasia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Carious teeth  (IAGP)
Central diabetes insipidus  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Chronic irritative conjunctivitis  (IAGP)
Chronic otitis media  (IAGP)
Cleft hard palate  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse hair  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Conical tooth  (IAGP)
Conjunctivitis  (IAGP)
Corneal erosion  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Dacryocystitis  (IAGP)
Decreased number of sweat glands  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased serum estradiol  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal tip  (IAGP)
Dermal atrophy  (IAGP)
Disturbance of facial expression  (IAGP)
Dry skin  (IAGP)
Duplicated collecting system  (IAGP)
Dysphagia  (IAGP)
Ectodermal dysplasia  (IAGP)
Ectrodactyly  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated circulating follicle stimulating hormone level  (IAGP)
Enamel hypoplasia  (IAGP)
Entropion  (IAGP)
Epispadias  (IAGP)
Facial hirsutism  (IAGP)
Fair hair  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Fingernail dysplasia  (IAGP)
Freckling  (IAGP)
Furrowed tongue  (IAGP)
Generalized hypopigmentation  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperconvex nail  (IAGP)
Hyperkeratosis  (IAGP)
Hypernasal speech  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic sacrum  (IAGP)
Hypospadias  (IAGP)
Impaired mastication  (IAGP)
Infantile onset  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Joint contracture of the hand  (IAGP)
Keratitis  (IAGP)
Lacrimal duct atresia  (IAGP)
Lacrimal duct stenosis  (IAGP)
Lacrimation abnormality  (IAGP)
Lip pit  (IAGP)
Low self-esteem  (IAGP)
Lymphoma  (IAGP)
Macrodontia  (IAGP)
Malar flattening  (IAGP)
Malnutrition  (IAGP)
Maternal teratogenic exposure  (IAGP)
Megacystis  (IAGP)
Melanocytic nevus  (IAGP)
Microdontia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Muscular dystrophy  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Nail pits  (IAGP)
Narrow mouth  (IAGP)
Narrow nose  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Nevus  (IAGP)
Non-midline cleft of the upper lip  (IAGP)
Oligodactyly  (IAGP)
Oligodontia  (IAGP)
Omphalocele  (IAGP)
Onychogryposis  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Orofacial cleft  (IAGP)
Oval face  (IAGP)
Palate fistula  (IAGP)
Palmoplantar keratoderma  (IAGP)
Patchy alopecia  (IAGP)
Patent ductus arteriosus  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Photophobia  (IAGP)
Pili canaliculi  (IAGP)
Pili torti  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Precocious puberty in females  (IAGP)
Premature loss of permanent teeth  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Progressive alopecia  (IAGP)
Prominent nasal bridge  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Psoriasiform dermatitis  (IAGP)
Ptosis  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent urinary tract infections  (IAGP)
Renal agenesis  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Schizophrenia  (IAGP)
Secondary amenorrhea  (IAGP)
Selective tooth agenesis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Skeletal dysplasia  (IAGP)
Skin ulcer  (IAGP)
Slow-growing hair  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Small, conical teeth  (IAGP)
Sparse axillary hair  (IAGP)
Sparse body hair  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse pubic hair  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Split foot  (IAGP)
Split hand  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Streak ovary  (IAGP)
Submucous cleft soft palate  (IAGP)
Supernumerary maxillary incisor  (IAGP)
Supernumerary nipple  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Taurodontia  (IAGP)
Thick eyebrow  (IAGP)
Thin skin  (IAGP)
Toe syndactyly  (IAGP)
Toenail dysplasia  (IAGP)
Tooth agenesis  (IAGP)
Transverse vaginal septum  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Uncombable hair  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unilateral cleft palate  (IAGP)
Ureterocele  (IAGP)
Urethral atresia  (IAGP)
Urethral stenosis  (IAGP)
Vaginal dryness  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
Xerostomia  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Alves LU, etal., Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.
2. Proliferation and apoptotic rates and increased frequency of p63-positive cells in the prostate acinar epithelium of alloxan-induced diabetic rats. Arcolino FO, etal., Int J Exp Pathol. 2010 Apr;91(2):144-54. doi: 10.1111/j.1365-2613.2009.00696.x. Epub 2009 Dec 22.
3. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. Barrow LL, etal., J Med Genet. 2002 Aug;39(8):559-66.
4. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Celli J, etal., Cell. 1999 Oct 15;99(2):143-53.
5. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Clements SE, etal., Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9.
6. Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene. Eisenkraft A, etal., Fetal Pediatr Pathol. 2015;34(6):400-6. doi: 10.3109/15513815.2015.1095261. Epub 2015 Oct 16.
7. Mutant p53: one name, many proteins. Freed-Pastor WA and Prives C, Genes Dev. 2012 Jun 15;26(12):1268-86. doi: 10.1101/gad.190678.112.
8. Impaired delta NP63 expression is associated with poor tumor development in transitional cell carcinoma of the bladder. He Y, etal., J Korean Med Sci. 2008 Oct;23(5):825-32.
9. Periacinar Clefting and p63 Immunostaining in Prostatic Intraepithelial Neoplasia and Prostatic Carcinoma. Kruslin B, etal., Pathol Oncol Res. 2006;12(4):205-9. Epub 2006 Dec 25.
10. DeltaNp63 protein expression in uterine cervical and endometrial cancers. Lin Z, etal., J Cancer Res Clin Oncol. 2006 Dec;132(12):811-6. Epub 2006 Jun 28.
11. DeltaNp63 expression is associated with poor survival in ovarian cancer. Marchini S, etal., Ann Oncol. 2008 Mar;19(3):501-7. Epub 2007 Nov 12.
12. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. McGrath JA, etal., Hum Mol Genet. 2001 Feb 1;10(3):221-9.
13. The corneal epithelial stem cell. Moore JE, etal., DNA Cell Biol. 2002 May-Jun;21(5-6):443-51.
14. p53 mutations in cancer. Muller PA and Vousden KH, Nat Cell Biol. 2013 Jan;15(1):2-8. doi: 10.1038/ncb2641.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. TP63 mutation and clefting modifier genes in an EEC syndrome family. Ray AK, etal., Clin Genet. 2004 Sep;66(3):217-22.
17. Progression of prostate cancer from a subset of p63-positive basal epithelial cells in FG/Tag transgenic mice. Reiner T, etal., Mol Cancer Res. 2007 Nov;5(11):1171-9. Epub 2007 Nov 2.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. South AP, etal., Br J Dermatol. 2002 Feb;146(2):216-20.
22. E-cadherin and p63 immunoexpression in dysplastic lesions and urothelial carcinomas of the bladder. Stepan A, etal., Rom J Morphol Embryol. 2009;50(3):461-5.
23. Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation. Su P, etal., Int J Colorectal Dis. 2013 Dec;28(12):1621-7. doi: 10.1007/s00384-013-1725-6. Epub 2013 Jun 5.
24. Diagnostic and prognostic impact of p63 immunoreactivity in renal malignancies. Tuna B, etal., Anal Quant Cytol Histol. 2009 Apr;31(2):118-22.
25. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. van Bokhoven H, etal., Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17.
26. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. Vernersson Lindahl E, etal., Am J Med Genet A. 2013 Aug;161A(8):1961-71. doi: 10.1002/ajmg.a.36074. Epub 2013 Jun 14.
27. Integrating expression-related SNPs into genome-wide gene- and pathway-based analyses identified novel lung cancer susceptibility genes. Wang Y, etal., Int J Cancer. 2018 Apr 15;142(8):1602-1610. doi: 10.1002/ijc.31182. Epub 2017 Dec 12.
28. Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. Wei J, etal., PLoS One. 2012;7(5):e35337. doi: 10.1371/journal.pone.0035337. Epub 2012 May 4.
29. Insertion/deletion polymorphisms in the DeltaNp63 promoter are a risk factor for bladder exstrophy epispadias complex. Wilkins S, etal., PLoS Genet. 2012;8(12):e1003070. doi: 10.1371/journal.pgen.1003070. Epub 2012 Dec 20.
30. TP63 gene mutations in Chinese P63 syndrome patients. Yin W, etal., J Dent Res. 2010 Aug;89(8):813-7. doi: 10.1177/0022034510366804. Epub 2010 Apr 21.
Additional References at PubMed
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PMID:31413199   PMID:31511647   PMID:31527723   PMID:31529309   PMID:31553905   PMID:31576015   PMID:31591562   PMID:31595333   PMID:31601649   PMID:31682841   PMID:31711519   PMID:31789342  
PMID:31794060   PMID:31826234   PMID:31831043   PMID:31903890   PMID:31927310   PMID:31969560   PMID:31978504   PMID:32060133   PMID:32067224   PMID:32128997   PMID:32168425   PMID:32193335  
PMID:32243883   PMID:32276991   PMID:32296183   PMID:32312834   PMID:32350443   PMID:32447427   PMID:32466705   PMID:32476291   PMID:32476798   PMID:32512627   PMID:32619460   PMID:32661136  
PMID:32687624   PMID:32762550   PMID:32764455   PMID:32856845   PMID:32870599   PMID:32873702   PMID:32977822   PMID:32989231   PMID:32993587   PMID:33024031   PMID:33037932   PMID:33038352  
PMID:33056990   PMID:33126320   PMID:33206579   PMID:33263276   PMID:33273057   PMID:33294441   PMID:33369228   PMID:33375680   PMID:33548094   PMID:33579235   PMID:33619536   PMID:33622322  
PMID:33658703   PMID:33672023   PMID:33683682   PMID:33764436   PMID:33906487   PMID:33920782   PMID:33961781   PMID:33964467   PMID:33991897   PMID:34061488   PMID:34272396   PMID:34315849  
PMID:34321610   PMID:34323626   PMID:34370013   PMID:34445673   PMID:34475402   PMID:34482436   PMID:34591642   PMID:34629465   PMID:34711883   PMID:34941867   PMID:35044719   PMID:35102612  
PMID:35222588   PMID:35235452   PMID:35235952   PMID:35338152   PMID:35459267   PMID:35587747   PMID:35593033   PMID:35609851   PMID:35636508   PMID:35705366   PMID:35794145   PMID:35801529  
PMID:35806389   PMID:35831859   PMID:35950770   PMID:36292946   PMID:36389801   PMID:36631020   PMID:36856110   PMID:36877866   PMID:36919456   PMID:36970727   PMID:37006060   PMID:37070724  
PMID:37072394   PMID:37141698   PMID:37150829   PMID:37158316   PMID:37247083   PMID:37257258   PMID:37432020   PMID:37451587   PMID:37453019   PMID:37567436   PMID:37848625   PMID:38002937  
PMID:38012539   PMID:38281558   PMID:38509096   PMID:38528613  


Genomics

Comparative Map Data
TP63
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383189,596,746 - 189,897,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3189,631,389 - 189,897,276 (+)EnsemblGRCh38hg38GRCh38
GRCh373189,314,535 - 189,615,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363190,831,910 - 191,097,759 (+)NCBINCBI36Build 36hg18NCBI36
Celera3187,783,803 - 188,042,610 (+)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3186,752,882 - 187,012,887 (+)NCBIHuRef
CHM1_13189,312,090 - 189,577,623 (+)NCBICHM1_1
T2T-CHM13v2.03192,413,470 - 192,713,713 (+)NCBIT2T-CHM13v2.0
Trp63
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391625,502,513 - 25,710,842 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1625,502,513 - 25,710,852 (+)EnsemblGRCm39 Ensembl
GRCm381625,683,763 - 25,892,088 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1625,683,763 - 25,892,102 (+)EnsemblGRCm38mm10GRCm38
MGSCv371625,683,851 - 25,892,174 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361625,717,291 - 25,807,429 (+)NCBIMGSCv36mm8
Celera1626,227,614 - 26,435,704 (+)NCBICelera
Cytogenetic Map16B1NCBI
cM Map1617.37NCBI
Tp63
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81188,343,647 - 88,554,543 (-)NCBIGRCr8
mRatBN7.21174,838,858 - 75,049,764 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1174,838,859 - 75,049,398 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1183,648,386 - 83,858,432 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01176,283,447 - 76,493,481 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01175,342,697 - 75,553,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01178,234,853 - 78,456,559 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1178,234,800 - 78,456,501 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01182,262,234 - 82,484,354 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41176,900,622 - 77,200,251 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11176,958,211 - 77,257,840 (-)NCBI
Celera1173,744,494 - 73,953,104 (-)NCBICelera
Cytogenetic Map11q22NCBI
Tp63
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542018,176,155 - 18,384,786 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542018,178,639 - 18,384,786 (-)NCBIChiLan1.0ChiLan1.0
TP63
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22187,462,332 - 187,762,966 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13187,467,050 - 187,767,682 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03186,651,879 - 186,918,300 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13195,172,810 - 195,473,085 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3195,199,167 - 195,474,104 (+)Ensemblpanpan1.1panPan2
TP63
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13421,766,861 - 21,985,095 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3421,766,496 - 21,983,046 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3425,860,495 - 26,078,655 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03421,700,749 - 21,919,495 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3421,700,663 - 21,918,660 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13421,716,204 - 21,934,749 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03421,710,660 - 21,927,985 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03421,951,749 - 22,170,136 (+)NCBIUU_Cfam_GSD_1.0
Tp63
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602114,397,903 - 114,613,831 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936578491,507 - 705,729 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936578492,267 - 705,282 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TP63
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13127,116,105 - 127,347,068 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113127,115,990 - 127,347,082 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213136,309,804 - 136,515,766 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TP63
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11583,861,489 - 84,126,675 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604157,444,595 - 57,708,553 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tp63
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473067,286,160 - 67,489,670 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473067,283,444 - 67,489,808 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TP63
655 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001114980.2(TP63):c.26del (p.Gln9fs) deletion not provided [RCV000522243] Chr3:189789826 [GRCh38]
Chr3:189507615 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.797G>C (p.Arg266Pro) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000023290] Chr3:189866712 [GRCh38]
Chr3:189584501 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1846del (p.Leu616fs) deletion TP63-Related Spectrum Disorders [RCV001324952] Chr3:189894305 [GRCh38]
Chr3:189612094 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593293] Chr3:189808465 [GRCh38]
Chr3:189526254 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006900]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV002283440]|TP63-Related Spectrum Disorders [RCV000812084]|not provided [RCV000394306] Chr3:189864379 [GRCh38]
Chr3:189582168 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006901]|Split hand-foot malformation 4 [RCV002250454]|TP63-Related Spectrum Disorders [RCV000705452]|not provided [RCV001804714] Chr3:189864380 [GRCh38]
Chr3:189582169 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1033T>C (p.Cys345Arg) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006902] Chr3:189868620 [GRCh38]
Chr3:189586409 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1691dup (p.Tyr564Ter) duplication Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006903] Chr3:189890826..189890827 [GRCh38]
Chr3:189608615..189608616 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.697A>G (p.Lys233Glu) single nucleotide variant Split hand-foot malformation 4 [RCV000006904] Chr3:189864349 [GRCh38]
Chr3:189582138 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.955C>T (p.Arg319Cys) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV003162215]|Split hand-foot malformation 4 [RCV000006905]|TP63-Related Spectrum Disorders [RCV002512857]|not provided [RCV001280776] Chr3:189867905 [GRCh38]
Chr3:189585694 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.953G>A (p.Arg318His) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006906]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006907]|TP63-Related Spectrum Disorders [RCV000548176]|not provided [RCV000478736] Chr3:189867903 [GRCh38]
Chr3:189585692 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006908]|Inborn genetic diseases [RCV001266717]|TP63-Related Spectrum Disorders [RCV000655484]|not provided [RCV000276670] Chr3:189868615 [GRCh38]
Chr3:189586404 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) single nucleotide variant Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV000006909] Chr3:189890795 [GRCh38]
Chr3:189608584 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) single nucleotide variant Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV000006910]|TP63-Related Spectrum Disorders [RCV001067605] Chr3:189890817 [GRCh38]
Chr3:189608606 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_001114980.2(TP63):c.16A>C (p.Asn6His) single nucleotide variant ADULT syndrome [RCV000006911] Chr3:189789816 [GRCh38]
Chr3:189507605 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1693_1694del (p.Phe565fs) deletion Limb-mammary syndrome [RCV000006912] Chr3:189890828..189890829 [GRCh38]
Chr3:189608617..189608618 [GRCh37]
Chr3:3q28		 pathogenic
TP63, 2-BP DEL, 1743AA deletion Limb-mammary syndrome [RCV000006913] Chr3:3q27 pathogenic
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) single nucleotide variant ADULT syndrome [RCV000006914]|TP63-Related Spectrum Disorders [RCV000794231]|not provided [RCV001781195] Chr3:189868597 [GRCh38]
Chr3:189586386 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1052A>G (p.Asp351Gly) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006915]|not provided [RCV000326964] Chr3:189868639 [GRCh38]
Chr3:189586428 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1827del (p.Glu609fs) deletion Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006916] Chr3:189894285 [GRCh38]
Chr3:189612074 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1976del (p.Asn659fs) deletion Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006917] Chr3:189894434 [GRCh38]
Chr3:189612223 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) single nucleotide variant Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV000006918]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006919] Chr3:189889478 [GRCh38]
Chr3:189607267 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) single nucleotide variant Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006920] Chr3:189890874 [GRCh38]
Chr3:189608663 [GRCh37]
Chr3:3q28		 pathogenic
TP63, VAL114MET single nucleotide variant ADULT syndrome [RCV000006921] Chr3:3q27 pathogenic
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV002467435]|Orofacial cleft 8 [RCV000006922] Chr3:189868641 [GRCh38]
Chr3:189586430 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) single nucleotide variant ADULT syndrome [RCV000006923]|not provided [RCV001280741] Chr3:189868596 [GRCh38]
Chr3:189586385 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.289C>T (p.Arg97Cys) single nucleotide variant Split hand-foot malformation 4 [RCV000006924]|TP63-Related Spectrum Disorders [RCV001851711] Chr3:189738739 [GRCh38]
Chr3:189456528 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) single nucleotide variant ADULT syndrome [RCV000006926]|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006925]|TP63-Related Spectrum Disorders [RCV001390108]|not provided [RCV000413620] Chr3:189866712 [GRCh38]
Chr3:189584501 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1900del (p.Arg634fs) deletion Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006927] Chr3:189894357 [GRCh38]
Chr3:189612146 [GRCh37]
Chr3:3q28		 pathogenic
P127L single nucleotide variant ADULT syndrome [RCV000006928] Chr3:3q27 pathogenic
NM_003722.5(TP63):c.1833_1843dup (p.His615fs) duplication Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV001794436]|Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000006929] Chr3:189894286..189894287 [GRCh38]
Chr3:189612075..189612076 [GRCh37]
Chr3:3q28		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28		 pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 copy number loss See cases [RCV000051611] Chr3:187446231..190839052 [GRCh38]
Chr3:187164019..190556841 [GRCh37]
Chr3:188646713..192039535 [NCBI36]
Chr3:3q27.3-28		 pathogenic
GRCh38/hg38 3q28(chr3:188362559-189767088)x1 copy number loss See cases [RCV000051612] Chr3:188362559..189767088 [GRCh38]
Chr3:188080347..189484877 [GRCh37]
Chr3:189563041..190967571 [NCBI36]
Chr3:3q28		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_003722.5(TP63):c.336G>A (p.Thr112=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002114052] Chr3:189808283 [GRCh38]
Chr3:189526072 [GRCh37]
Chr3:191008766 [NCBI36]
Chr3:3q28		 likely benign|not provided
NM_003722.4(TP63):c.496C>T (p.Pro166Ser) single nucleotide variant Malignant melanoma [RCV000065969] Chr3:189808443 [GRCh38]
Chr3:189526232 [GRCh37]
Chr3:191008926 [NCBI36]
Chr3:3q28		 not provided
NM_003722.4(TP63):c.1497G>T (p.Met499Ile) single nucleotide variant Malignant melanoma [RCV000065970] Chr3:189886541 [GRCh38]
Chr3:189604330 [GRCh37]
Chr3:191087024 [NCBI36]
Chr3:3q28		 not provided
NM_003722.5(TP63):c.1094C>T (p.Ser365Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757997] Chr3:189868681 [GRCh38]
Chr3:189586470 [GRCh37]
Chr3:191069164 [NCBI36]
Chr3:3q28		 uncertain significance|not provided
NM_003722.4(TP63):c.1161G>A (p.Met387Ile) single nucleotide variant Malignant melanoma [RCV000060784] Chr3:189869355 [GRCh38]
Chr3:189587144 [GRCh37]
Chr3:191069838 [NCBI36]
Chr3:3q28		 not provided
NM_003722.5(TP63):c.1825G>A (p.Glu609Lys) single nucleotide variant ADULT syndrome [RCV002504980]|Split hand-foot malformation 4 [RCV001270760] Chr3:189894284 [GRCh38]
Chr3:189612073 [GRCh37]
Chr3:191094767 [NCBI36]
Chr3:3q28		 uncertain significance|not provided
NM_003722.5(TP63):c.1837_1841del (p.Pro613fs) deletion not provided [RCV000174740] Chr3:189894295..189894299 [GRCh38]
Chr3:189612084..189612088 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1037C>G (p.Ala346Gly) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000190455] Chr3:189868624 [GRCh38]
Chr3:189586413 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.192-9_192-8del deletion ADULT syndrome [RCV002503681]|TP63-Related Spectrum Disorders [RCV001080338]|not provided [RCV000514456]|not specified [RCV000177177] Chr3:189738632..189738633 [GRCh38]
Chr3:189456421..189456422 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.677G>A (p.Arg226His) single nucleotide variant Malignant tumor of prostate [RCV000149048]|TP63-Related Spectrum Disorders [RCV003764897] Chr3:189864329 [GRCh38]
Chr3:189582118 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.579+17C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002071098] Chr3:189808543 [GRCh38]
Chr3:189526332 [GRCh37]
Chr3:3q28		 likely benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 copy number loss See cases [RCV000143464] Chr3:187434386..192142942 [GRCh38]
Chr3:187152174..191860731 [GRCh37]
Chr3:188634868..193343425 [NCBI36]
Chr3:3q27.3-28		 likely pathogenic
GRCh38/hg38 3q28(chr3:189490327-189767254)x1 copy number loss See cases [RCV000143469] Chr3:189490327..189767254 [GRCh38]
Chr3:189208116..189485043 [GRCh37]
Chr3:190690810..190967737 [NCBI36]
Chr3:3q28		 uncertain significance
GRCh38/hg38 3q28(chr3:189218502-190089843)x3 copy number gain See cases [RCV000143513] Chr3:189218502..190089843 [GRCh38]
Chr3:188936291..189807632 [GRCh37]
Chr3:190418985..191290326 [NCBI36]
Chr3:3q28		 likely benign|uncertain significance
NC_000003.12:g.189608896A>T single nucleotide variant Lung cancer [RCV000093391] Chr3:189608896 [GRCh38]
Chr3:189326685 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.435G>C (p.Ala145=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002516768]|not provided [RCV000178196] Chr3:189808382 [GRCh38]
Chr3:189526171 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.992+10G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002054139]|not provided [RCV000179861] Chr3:189867952 [GRCh38]
Chr3:189585741 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1083G>A (p.Lys361=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002054146]|not provided [RCV000180238] Chr3:189868670 [GRCh38]
Chr3:189586459 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.*2123C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000259318]|Orofacial cleft 8 [RCV000356478]|TP63-Related Spectrum Disorders [RCV000317222] Chr3:189896625 [GRCh38]
Chr3:189614414 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*627T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000263418]|Orofacial cleft 8 [RCV000356190]|TP63-Related Spectrum Disorders [RCV000316297] Chr3:189895129 [GRCh38]
Chr3:189612918 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1963del (p.Arg655fs) deletion ADULT syndrome [RCV000195096] Chr3:189894419 [GRCh38]
Chr3:189612208 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) single nucleotide variant ADULT syndrome [RCV002480032]|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000296599]|Orofacial cleft 8 [RCV000399267]|TP63-Related Spectrum Disorders [RCV000351504]|not provided [RCV001572958]|not specified [RCV000384210] Chr3:189889363 [GRCh38]
Chr3:189607152 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.740A>G (p.His247Arg) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000206266]|TP63-Related Spectrum Disorders [RCV000821003]|not provided [RCV000312203] Chr3:189864392 [GRCh38]
Chr3:189582181 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.956G>A (p.Arg319His) single nucleotide variant TP63-Related Spectrum Disorders [RCV002518757]|not provided [RCV000255404] Chr3:189867906 [GRCh38]
Chr3:189585695 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
GRCh37/hg19 3q28(chr3:189383139-189397549)x3 copy number gain See cases [RCV000449013] Chr3:189383139..189397549 [GRCh37]
Chr3:3q28		 benign
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_003722.5(TP63):c.*2318G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000322615]|Orofacial cleft 8 [RCV000267704]|TP63-Related Spectrum Disorders [RCV000363257] Chr3:189896820 [GRCh38]
Chr3:189614609 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*2139G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000320559]|Orofacial cleft 8 [RCV000378823]|TP63-Related Spectrum Disorders [RCV000267809] Chr3:189896641 [GRCh38]
Chr3:189614430 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1746+5G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV000551822] Chr3:189890887 [GRCh38]
Chr3:189608676 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*379T>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000319971]|Orofacial cleft 8 [RCV000278232]|TP63-Related Spectrum Disorders [RCV000374645] Chr3:189894881 [GRCh38]
Chr3:189612670 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*1472A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000335657]|Orofacial cleft 8 [RCV000398330]|TP63-Related Spectrum Disorders [RCV000278302] Chr3:189895974 [GRCh38]
Chr3:189613763 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*803G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000376786]|Orofacial cleft 8 [RCV000328109]|TP63-Related Spectrum Disorders [RCV000284738] Chr3:189895305 [GRCh38]
Chr3:189613094 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.409G>C (p.Asp137His) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000371721]|Orofacial cleft 8 [RCV000286634]|TP63-Related Spectrum Disorders [RCV000317111] Chr3:189808356 [GRCh38]
Chr3:189526145 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2477T>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000335427]|Orofacial cleft 8 [RCV000399787]|TP63-Related Spectrum Disorders [RCV000280323] Chr3:189896979 [GRCh38]
Chr3:189614768 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.303G>A (p.Ser101=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000330162]|Orofacial cleft 8 [RCV000280920]|TP63-Related Spectrum Disorders [RCV000375324] Chr3:189738753 [GRCh38]
Chr3:189456542 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.*101C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000398534]|Orofacial cleft 8 [RCV000280842]|TP63-Related Spectrum Disorders [RCV000336001] Chr3:189894603 [GRCh38]
Chr3:189612392 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.*1181T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000268038]|Orofacial cleft 8 [RCV000320774]|TP63-Related Spectrum Disorders [RCV000359141]|not provided [RCV003437092] Chr3:189895683 [GRCh38]
Chr3:189613472 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.1652+14A>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000359446]|Orofacial cleft 8 [RCV000268218]|TP63-Related Spectrum Disorders [RCV000304755]|not provided [RCV001701862]|not specified [RCV001723943] Chr3:189889498 [GRCh38]
Chr3:189607287 [GRCh37]
Chr3:3q28		 benign|likely benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_003722.5(TP63):c.1652+46G>A single nucleotide variant not provided [RCV001544695]|not specified [RCV000243764] Chr3:189889530 [GRCh38]
Chr3:189607319 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.*1939T>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000380183]|Orofacial cleft 8 [RCV000341965]|TP63-Related Spectrum Disorders [RCV000283464]|not provided [RCV003437093] Chr3:189896441 [GRCh38]
Chr3:189614230 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.1350-23T>C single nucleotide variant not provided [RCV001651179]|not specified [RCV000243865] Chr3:189886371 [GRCh38]
Chr3:189604160 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1350-34T>G single nucleotide variant not specified [RCV000248827] Chr3:189886360 [GRCh38]
Chr3:189604149 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.992+4A>C single nucleotide variant ADULT syndrome [RCV002502321]|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000283959]|Orofacial cleft 8 [RCV000321352]|TP63-Related Spectrum Disorders [RCV000378424]|not provided [RCV001618612] Chr3:189867946 [GRCh38]
Chr3:189585735 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.-58A>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000275011]|Orofacial cleft 8 [RCV000369113]|TP63-Related Spectrum Disorders [RCV000333154]|not provided [RCV001712081] Chr3:189631458 [GRCh38]
Chr3:189349247 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1587C>T (p.Leu529=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000311604]|Orofacial cleft 8 [RCV000392092]|TP63-Related Spectrum Disorders [RCV000357046]|not provided [RCV001706338]|not specified [RCV000251759] Chr3:189889419 [GRCh38]
Chr3:189607208 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.876A>G (p.Pro292=) single nucleotide variant not specified [RCV000254361] Chr3:189866791 [GRCh38]
Chr3:189584580 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys) single nucleotide variant TP63-Related Spectrum Disorders [RCV001298548]|not provided [RCV000255981] Chr3:189890791 [GRCh38]
Chr3:189608580 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.766+42G>A single nucleotide variant not provided [RCV001711696]|not specified [RCV000244831] Chr3:189864460 [GRCh38]
Chr3:189582249 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1349+40G>C single nucleotide variant not specified [RCV000247296] Chr3:189873035 [GRCh38]
Chr3:189590824 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1349+41G>A single nucleotide variant not specified [RCV000252252] Chr3:189873036 [GRCh38]
Chr3:189590825 [GRCh37]
Chr3:3q28		 benign
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28		 pathogenic
NM_003722.5(TP63):c.*45C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000375399]|Orofacial cleft 8 [RCV000348286]|TP63-Related Spectrum Disorders [RCV000293324]|not provided [RCV001711695]|not specified [RCV000252369] Chr3:189894547 [GRCh38]
Chr3:189612336 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1130-22A>G single nucleotide variant not provided [RCV001536767]|not specified [RCV000242731] Chr3:189869302 [GRCh38]
Chr3:189587091 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*2625A>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000307203]|Orofacial cleft 8 [RCV000271914]|TP63-Related Spectrum Disorders [RCV000366482] Chr3:189897127 [GRCh38]
Chr3:189614916 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*2345C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000328512]|Orofacial cleft 8 [RCV000268729]|TP63-Related Spectrum Disorders [RCV000387433]|not provided [RCV001672627] Chr3:189896847 [GRCh38]
Chr3:189614636 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.859C>T (p.Leu287=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000263662]|Orofacial cleft 8 [RCV000318871]|TP63-Related Spectrum Disorders [RCV000367664]|not provided [RCV001675724]|not specified [RCV000248159] Chr3:189866774 [GRCh38]
Chr3:189584563 [GRCh37]
Chr3:3q28		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003722.5(TP63):c.1707G>A (p.Gly569=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000272480]|Orofacial cleft 8 [RCV000327601]|TP63-Related Spectrum Disorders [RCV000382220] Chr3:189890843 [GRCh38]
Chr3:189608632 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.*2636del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000367020]|Ectrodactyly [RCV000331015]|TP63-Related Spectrum Disorders [RCV000277144]|not provided [RCV001535128] Chr3:189897138 [GRCh38]
Chr3:189614927 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.191+24T>C single nucleotide variant not specified [RCV000248270] Chr3:189737892 [GRCh38]
Chr3:189455681 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.766+34T>G single nucleotide variant not provided [RCV001610639]|not specified [RCV000253254] Chr3:189864452 [GRCh38]
Chr3:189582241 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*638C>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000324576]|Orofacial cleft 8 [RCV000266971]|TP63-Related Spectrum Disorders [RCV000354629] Chr3:189895140 [GRCh38]
Chr3:189612929 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*232T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000277648]|Orofacial cleft 8 [RCV000362725]|TP63-Related Spectrum Disorders [RCV000308001] Chr3:189894734 [GRCh38]
Chr3:189612523 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1644C>T (p.Ser548=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000298655]|Orofacial cleft 8 [RCV000353698]|TP63-Related Spectrum Disorders [RCV000392141] Chr3:189889476 [GRCh38]
Chr3:189607265 [GRCh37]
Chr3:3q28		 conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.*2002T>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000314579]|Orofacial cleft 8 [RCV000345031]|TP63-Related Spectrum Disorders [RCV000407179]|not provided [RCV002263622] Chr3:189896504 [GRCh38]
Chr3:189614293 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*854A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000287662]|Orofacial cleft 8 [RCV000344959]|TP63-Related Spectrum Disorders [RCV000384453] Chr3:189895356 [GRCh38]
Chr3:189613145 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*2155G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000347526]|Orofacial cleft 8 [RCV000377765]|TP63-Related Spectrum Disorders [RCV000290360] Chr3:189896657 [GRCh38]
Chr3:189614446 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1374A>G (p.Ser458=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000345850]|Orofacial cleft 8 [RCV000290920]|TP63-Related Spectrum Disorders [RCV000385271] Chr3:189886418 [GRCh38]
Chr3:189604207 [GRCh37]
Chr3:3q28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.*1620T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000305259]|Orofacial cleft 8 [RCV000339025]|TP63-Related Spectrum Disorders [RCV000393881] Chr3:189896122 [GRCh38]
Chr3:189613911 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.699A>G (p.Lys233=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000399114]|Orofacial cleft 8 [RCV000341676]|TP63-Related Spectrum Disorders [RCV000291632]|TP63-related condition [RCV003969993] Chr3:189864351 [GRCh38]
Chr3:189582140 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.*2426C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000293115]|Orofacial cleft 8 [RCV000334024]|TP63-Related Spectrum Disorders [RCV000388520] Chr3:189896928 [GRCh38]
Chr3:189614717 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.*1464G>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000398628]|Orofacial cleft 8 [RCV000337429]|TP63-Related Spectrum Disorders [RCV000294095] Chr3:189895966 [GRCh38]
Chr3:189613755 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*1386T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000386060]|Orofacial cleft 8 [RCV000295217]|TP63-Related Spectrum Disorders [RCV000333797] Chr3:189895888 [GRCh38]
Chr3:189613677 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*435C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000400848]|Orofacial cleft 8 [RCV000338960]|TP63-Related Spectrum Disorders [RCV000310807] Chr3:189894937 [GRCh38]
Chr3:189612726 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*966C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000348349]|Orofacial cleft 8 [RCV000400317]|TP63-Related Spectrum Disorders [RCV000295741] Chr3:189895468 [GRCh38]
Chr3:189613257 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.*1959A>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000310637]|Orofacial cleft 8 [RCV000390086]|TP63-Related Spectrum Disorders [RCV000340854] Chr3:189896461 [GRCh38]
Chr3:189614250 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.*2216G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000399947]|Orofacial cleft 8 [RCV000297190]|TP63-Related Spectrum Disorders [RCV000356664]|not provided [RCV001613135] Chr3:189896718 [GRCh38]
Chr3:189614507 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.766+5G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000312904]|Orofacial cleft 8 [RCV000371099]|TP63-Related Spectrum Disorders [RCV000406104] Chr3:189864423 [GRCh38]
Chr3:189582212 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.*541G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000407115]|Orofacial cleft 8 [RCV000371138]|TP63-Related Spectrum Disorders [RCV000313150] Chr3:189895043 [GRCh38]
Chr3:189612832 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*1702G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000308702]|Orofacial cleft 8 [RCV000365655]|TP63-Related Spectrum Disorders [RCV000269682] Chr3:189896204 [GRCh38]
Chr3:189613993 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.899C>A (p.Thr300Lys) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000355035]|Orofacial cleft 8 [RCV000323844]|TP63-Related Spectrum Disorders [RCV000259317] Chr3:189867849 [GRCh38]
Chr3:189585638 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2544del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000400398]|Ectrodactyly [RCV000281489]|TP63-Related Spectrum Disorders [RCV000340710]|not provided [RCV001718733] Chr3:189897040 [GRCh38]
Chr3:189614829 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*1217T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000271478]|Orofacial cleft 8 [RCV000382554]|TP63-Related Spectrum Disorders [RCV000325559] Chr3:189895719 [GRCh38]
Chr3:189613508 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*235_*238del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000271698]|Ectrodactyly [RCV000301990]|TP63-Related Spectrum Disorders [RCV000366302] Chr3:189894734..189894737 [GRCh38]
Chr3:189612523..189612526 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.399C>T (p.Pro133=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001146606]|Orofacial cleft 8 [RCV001146607]|TP63-Related Spectrum Disorders [RCV000878722]|not specified [RCV000349119] Chr3:189808346 [GRCh38]
Chr3:189526135 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*1846C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000262621]|Orofacial cleft 8 [RCV000387573]|TP63-Related Spectrum Disorders [RCV000330726] Chr3:189896348 [GRCh38]
Chr3:189614137 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1827A>G (p.Glu609=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002059164]|TP63-related condition [RCV003957437]|not provided [RCV000316384] Chr3:189894286 [GRCh38]
Chr3:189612075 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.*295T>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000274176]|Orofacial cleft 8 [RCV000332651]|TP63-Related Spectrum Disorders [RCV000387283] Chr3:189894797 [GRCh38]
Chr3:189612586 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2009T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000274553]|Orofacial cleft 8 [RCV000299204]|TP63-Related Spectrum Disorders [RCV000366949] Chr3:189896511 [GRCh38]
Chr3:189614300 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1027C>T (p.Arg343Trp) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV003152702]|TP63-Related Spectrum Disorders [RCV001050126]|not provided [RCV000371222] Chr3:189868614 [GRCh38]
Chr3:189586403 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.*1844dup duplication Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000277766]|Ectrodactyly [RCV000308482]|TP63-Related Spectrum Disorders [RCV000370196] Chr3:189896345..189896346 [GRCh38]
Chr3:189614134..189614135 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*2719_*2720del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000372634]|Ectrodactyly [RCV000278081]|TP63-Related Spectrum Disorders [RCV000332134] Chr3:189897218..189897219 [GRCh38]
Chr3:189615007..189615008 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1653-9C>T single nucleotide variant not provided [RCV000366348] Chr3:189890780 [GRCh38]
Chr3:189608569 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1994T>G (p.Met665Arg) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000333254]|Orofacial cleft 8 [RCV000268805]|TP63-Related Spectrum Disorders [RCV000387704] Chr3:189894453 [GRCh38]
Chr3:189612242 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.-65C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000308970]|Orofacial cleft 8 [RCV000363695]|TP63-Related Spectrum Disorders [RCV000268728] Chr3:189631451 [GRCh38]
Chr3:189349240 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1947dup duplication Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000320135]|Ectrodactyly [RCV000372092]|TP63-Related Spectrum Disorders [RCV000279814] Chr3:189896440..189896441 [GRCh38]
Chr3:189614229..189614230 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1129+202A>C single nucleotide variant not provided [RCV001574347] Chr3:189868918 [GRCh38]
Chr3:189586707 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.*519C>T single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000407099]|Ectrodactyly [RCV000314402]|TP63-Related Spectrum Disorders [RCV000344612] Chr3:189895021 [GRCh38]
Chr3:189612810 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2273A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000302974]|Orofacial cleft 8 [RCV000391853]|TP63-Related Spectrum Disorders [RCV000357671] Chr3:189896775 [GRCh38]
Chr3:189614564 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2205A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000292865]|Orofacial cleft 8 [RCV000350152]|TP63-Related Spectrum Disorders [RCV000399131] Chr3:189896707 [GRCh38]
Chr3:189614496 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*221G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000393859]|Orofacial cleft 8 [RCV000341590]|TP63-Related Spectrum Disorders [RCV000305389] Chr3:189894723 [GRCh38]
Chr3:189612512 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2555dup duplication Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000305719]|Ectrodactyly [RCV000390956]|TP63-Related Spectrum Disorders [RCV000360516]|not provided [RCV003430876] Chr3:189897052..189897053 [GRCh38]
Chr3:189614841..189614842 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.766+3A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000407579]|Orofacial cleft 8 [RCV000346509]|TP63-Related Spectrum Disorders [RCV000307059] Chr3:189864421 [GRCh38]
Chr3:189582210 [GRCh37]
Chr3:3q28		 uncertain significance
NM_001114980.2(TP63):c.33A>G (p.Gln11=) single nucleotide variant not provided [RCV000598112] Chr3:189789833 [GRCh38]
Chr3:189507622 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*382A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000335601]|Orofacial cleft 8 [RCV000378481]|TP63-Related Spectrum Disorders [RCV000286380] Chr3:189894884 [GRCh38]
Chr3:189612673 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1164A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000360358]|Orofacial cleft 8 [RCV000407849]|TP63-Related Spectrum Disorders [RCV000298545] Chr3:189895666 [GRCh38]
Chr3:189613455 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.4(TP63):c.*2789A>G single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000270897]|Ectrodactyly [RCV000315027]|TP63-Related Spectrum Disorders [RCV000362750] Chr3:189897291 [GRCh38]
Chr3:189615080 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*1130_*1133del deletion Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000407856]|Ectrodactyly [RCV000299278]|TP63-Related Spectrum Disorders [RCV000356858] Chr3:189895630..189895633 [GRCh38]
Chr3:189613419..189613422 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2197C>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000351156]|Orofacial cleft 8 [RCV000289237]|TP63-Related Spectrum Disorders [RCV000381182] Chr3:189896699 [GRCh38]
Chr3:189614488 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.678C>T (p.Arg226=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147522]|Orofacial cleft 8 [RCV001147521]|TP63-Related Spectrum Disorders [RCV001147523]|TP63-related condition [RCV003915696]|not provided [RCV000592530] Chr3:189864330 [GRCh38]
Chr3:189582119 [GRCh37]
Chr3:3q28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.853_854del (p.Ser285fs) microsatellite not provided [RCV000584992] Chr3:189866766..189866767 [GRCh38]
Chr3:189584555..189584556 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.605A>G (p.Tyr202Cys) single nucleotide variant not provided [RCV000414612] Chr3:189864257 [GRCh38]
Chr3:189582046 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.504C>T (p.Asn168=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147520]|Orofacial cleft 8 [RCV001147519]|TP63-Related Spectrum Disorders [RCV001079102]|not provided [RCV000730046] Chr3:189808451 [GRCh38]
Chr3:189526240 [GRCh37]
Chr3:3q28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.739C>T (p.His247Tyr) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000851194]|TP63-Related Spectrum Disorders [RCV000559680] Chr3:189864391 [GRCh38]
Chr3:189582180 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic|uncertain significance
NM_003722.5(TP63):c.290G>A (p.Arg97His) single nucleotide variant ADULT syndrome [RCV002477715]|TP63-Related Spectrum Disorders [RCV001855687]|not provided [RCV000732570] Chr3:189738740 [GRCh38]
Chr3:189456529 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1048A>G (p.Arg350Gly) single nucleotide variant not provided [RCV000413411] Chr3:189868635 [GRCh38]
Chr3:189586424 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV000534217]|TP63-related condition [RCV003409575]|not provided [RCV000413999] Chr3:189890863 [GRCh38]
Chr3:189608652 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1682G>A (p.Cys561Tyr) single nucleotide variant TP63-Related Spectrum Disorders [RCV002523954]|not provided [RCV000414275] Chr3:189890818 [GRCh38]
Chr3:189608607 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.942_944del (p.Gly315del) deletion not provided [RCV000414331] Chr3:189867890..189867892 [GRCh38]
Chr3:189585679..189585681 [GRCh37]
Chr3:3q28		 likely pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_003722.5(TP63):c.1177C>T (p.Arg393Ter) single nucleotide variant not provided [RCV000422385] Chr3:189869371 [GRCh38]
Chr3:189587160 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.547C>T (p.Gln183Ter) single nucleotide variant not provided [RCV000422835] Chr3:189808494 [GRCh38]
Chr3:189526283 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.517G>C (p.Gly173Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV000695697]|not provided [RCV000429171] Chr3:189808464 [GRCh38]
Chr3:189526253 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1805T>C (p.Leu602Pro) single nucleotide variant not provided [RCV000422824] Chr3:189894264 [GRCh38]
Chr3:189612053 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.935G>A (p.Cys312Tyr) single nucleotide variant not provided [RCV000435995] Chr3:189867885 [GRCh38]
Chr3:189585674 [GRCh37]
Chr3:3q28		 pathogenic
NM_001114980.2(TP63):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000437272] Chr3:189789801 [GRCh38]
Chr3:189507590 [GRCh37]
Chr3:3q28		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_003722.5(TP63):c.1040G>T (p.Cys347Phe) single nucleotide variant not provided [RCV000481657] Chr3:189868627 [GRCh38]
Chr3:189586416 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1922C>T (p.Ala641Val) single nucleotide variant not provided [RCV000485320] Chr3:189894381 [GRCh38]
Chr3:189612170 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1553G>A (p.Gly518Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001865567]|TP63-related condition [RCV003419844]|not provided [RCV000498637] Chr3:189889385 [GRCh38]
Chr3:189607174 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1820T>C (p.Leu607Pro) single nucleotide variant not provided [RCV000497551] Chr3:189894279 [GRCh38]
Chr3:189612068 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1013G>A (p.Arg338His) single nucleotide variant not provided [RCV000497878] Chr3:189868600 [GRCh38]
Chr3:189586389 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.518G>T (p.Gly173Val) single nucleotide variant not provided [RCV000494181] Chr3:189808465 [GRCh38]
Chr3:189526254 [GRCh37]
Chr3:3q28		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003722.5(TP63):c.500C>T (p.Ser167Phe) single nucleotide variant Inborn genetic diseases [RCV000624261] Chr3:189808447 [GRCh38]
Chr3:189526236 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1507+3A>T single nucleotide variant TP63-related ectodermal dysplasia [RCV003316885] Chr3:189886554 [GRCh38]
Chr3:189604343 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.191+5G>C single nucleotide variant Muscular dystrophy [RCV000586900] Chr3:189737873 [GRCh38]
Chr3:189455662 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.371T>C (p.Ile124Thr) single nucleotide variant Inborn genetic diseases [RCV000623982] Chr3:189808318 [GRCh38]
Chr3:189526107 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1063G>A (p.Asp355Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV000655483] Chr3:189868650 [GRCh38]
Chr3:189586439 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.1799G>A (p.Gly600Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV000655482] Chr3:189894258 [GRCh38]
Chr3:189612047 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003722.5(TP63):c.2034G>A (p.Glu678=) single nucleotide variant TP63-Related Spectrum Disorders [RCV001497917]|not specified [RCV000604289] Chr3:189894493 [GRCh38]
Chr3:189612282 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.698A>C (p.Lys233Thr) single nucleotide variant not provided [RCV000512665] Chr3:189864350 [GRCh38]
Chr3:189582139 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28(chr3:189594136-189687287)x1 copy number loss not provided [RCV000682345] Chr3:189594136..189687287 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1350-2A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV000699080] Chr3:189886392 [GRCh38]
Chr3:189604181 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1910G>T (p.Arg637Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV000704473] Chr3:189894369 [GRCh38]
Chr3:189612158 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.487C>T (p.Pro163Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV000692960]|not provided [RCV003233820] Chr3:189808434 [GRCh38]
Chr3:189526223 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.497C>A (p.Pro166His) single nucleotide variant TP63-Related Spectrum Disorders [RCV000693615] Chr3:189808444 [GRCh38]
Chr3:189526233 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.694A>G (p.Lys232Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV000695736] Chr3:189864346 [GRCh38]
Chr3:189582135 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1043C>T (p.Pro348Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV000705867] Chr3:189868630 [GRCh38]
Chr3:189586419 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.698_700del (p.Lys233_Ala234delinsThr) deletion TP63-Related Spectrum Disorders [RCV000692164] Chr3:189864350..189864352 [GRCh38]
Chr3:189582139..189582141 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.819_820dup (p.Gln274fs) duplication Orofacial cleft 8 [RCV000710017] Chr3:189866732..189866733 [GRCh38]
Chr3:189584521..189584522 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.191+275A>C single nucleotide variant not provided [RCV001548336] Chr3:189738143 [GRCh38]
Chr3:189455932 [GRCh37]
Chr3:3q28		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NC_000003.12:g.(?_187222939)_(194312782_?)del deletion Schizophrenia [RCV000754274] Chr3:187222939..194312782 [GRCh38]
Chr3:3q27.3-29		 likely pathogenic
NC_000003.12:g.189709350_189867832dup duplication Primary amenorrhea [RCV000754409] Chr3:189709350..189867832 [GRCh38]
Chr3:189427139..189585621 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.12:g.189709350_189870688dup duplication Primary amenorrhea [RCV000754410] Chr3:189709350..189870688 [GRCh38]
Chr3:189427139..189588477 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 copy number loss not provided [RCV000743033] Chr3:186018854..189514047 [GRCh37]
Chr3:3q27.3-28		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28(chr3:189364424-189379493)x1 copy number loss not provided [RCV000743050] Chr3:189364424..189379493 [GRCh37]
Chr3:3q28		 benign
NC_000003.12:g.189897324C>T single nucleotide variant not provided [RCV001539837] Chr3:189897324 [GRCh38]
Chr3:189615113 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.150C>T (p.Leu50=) single nucleotide variant not provided [RCV000940909] Chr3:189737827 [GRCh38]
Chr3:189455616 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1508-29C>A single nucleotide variant not provided [RCV001584678] Chr3:189889311 [GRCh38]
Chr3:189607100 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.62+50063C>T single nucleotide variant not provided [RCV001533861] Chr3:189681640 [GRCh38]
Chr3:189399429 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.579+158T>A single nucleotide variant not provided [RCV001534563] Chr3:189808684 [GRCh38]
Chr3:189526473 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.366G>A (p.Gln122=) single nucleotide variant ADULT syndrome [RCV002505442]|TP63-Related Spectrum Disorders [RCV002066373]|not provided [RCV000960693] Chr3:189808313 [GRCh38]
Chr3:189526102 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_001329964.2(TP63):c.56+33909C>T single nucleotide variant not provided [RCV001547502] Chr3:189631147 [GRCh38]
Chr3:189348936 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.325-18195A>G single nucleotide variant not provided [RCV001567577] Chr3:189790077 [GRCh38]
Chr3:189507866 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) single nucleotide variant Limb-mammary syndrome [RCV003159544]|not provided [RCV000760773] Chr3:189894386 [GRCh38]
Chr3:189612175 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.766+105G>A single nucleotide variant not provided [RCV001550398] Chr3:189864523 [GRCh38]
Chr3:189582312 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.325-18571C>T single nucleotide variant not provided [RCV001576711] Chr3:189789701 [GRCh38]
Chr3:189507490 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1350-6315C>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000987373] Chr3:189880079 [GRCh38]
Chr3:189597868 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.925A>G (p.Asn309Asp) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV003315466] Chr3:189867875 [GRCh38]
Chr3:189585664 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.-38T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001149255]|Orofacial cleft 8 [RCV001149254]|TP63-Related Spectrum Disorders [RCV001149253] Chr3:189631478 [GRCh38]
Chr3:189349267 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_003722.5(TP63):c.325-18543_325-18542insAG insertion not provided [RCV001645159] Chr3:189789729..189789730 [GRCh38]
Chr3:189507518..189507519 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.394A>G (p.Ser132Gly) single nucleotide variant not provided [RCV000998190] Chr3:189808341 [GRCh38]
Chr3:189526130 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1212+79A>G single nucleotide variant not provided [RCV001612727] Chr3:189869485 [GRCh38]
Chr3:189587274 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1404A>G (p.Lys468=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150947]|Orofacial cleft 8 [RCV001147616]|TP63-Related Spectrum Disorders [RCV001147617]|TP63-related condition [RCV003945870] Chr3:189886448 [GRCh38]
Chr3:189604237 [GRCh37]
Chr3:3q28		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.402T>C (p.Tyr134=) single nucleotide variant ADULT syndrome [RCV002478994]|TP63-Related Spectrum Disorders [RCV002064880] Chr3:189808349 [GRCh38]
Chr3:189526138 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.714G>A (p.Thr238=) single nucleotide variant ADULT syndrome [RCV002507540]|not provided [RCV000877367] Chr3:189864366 [GRCh38]
Chr3:189582155 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1599C>T (p.Ser533=) single nucleotide variant ADULT syndrome [RCV002505406]|TP63-Related Spectrum Disorders [RCV001479077]|TP63-related condition [RCV003925862]|not provided [RCV000946092] Chr3:189889431 [GRCh38]
Chr3:189607220 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1788G>A (p.Ala596=) single nucleotide variant ADULT syndrome [RCV002495327]|TP63-Related Spectrum Disorders [RCV002064892]|TP63-related condition [RCV003967945] Chr3:189894247 [GRCh38]
Chr3:189612036 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1301C>T (p.Thr434Met) single nucleotide variant TP63-Related Spectrum Disorders [RCV002540208] Chr3:189872947 [GRCh38]
Chr3:189590736 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.992+9C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147613]|Orofacial cleft 8 [RCV001147615]|TP63-Related Spectrum Disorders [RCV001147614] Chr3:189867951 [GRCh38]
Chr3:189585740 [GRCh37]
Chr3:3q28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) single nucleotide variant Rapp-Hodgkin ectodermal dysplasia syndrome [RCV000995905] Chr3:189894249 [GRCh38]
Chr3:189612038 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1802T>C (p.Ile601Thr) single nucleotide variant Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV003316886] Chr3:189894261 [GRCh38]
Chr3:189612050 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1061C>A (p.Ala354Glu) single nucleotide variant Split hand-foot malformation 4 [RCV002290573]|TP63-Related Spectrum Disorders [RCV001049615] Chr3:189868648 [GRCh38]
Chr3:189586437 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.63-1G>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150760]|Orofacial cleft 8 [RCV000779404]|TP63-Related Spectrum Disorders [RCV001150761] Chr3:189737739 [GRCh38]
Chr3:189455528 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) single nucleotide variant TP63-Related Spectrum Disorders [RCV000791566]|TP63-related condition [RCV003411742] Chr3:189737786 [GRCh38]
Chr3:189455575 [GRCh37]
Chr3:3q28		 conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.84T>G (p.His28Gln) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001144653]|Orofacial cleft 8 [RCV001144652]|TP63-Related Spectrum Disorders [RCV001144654] Chr3:189737761 [GRCh38]
Chr3:189455550 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.1608C>T (p.His536=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591820] Chr3:189889440 [GRCh38]
Chr3:189607229 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+10T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV002548280] Chr3:189886561 [GRCh38]
Chr3:189604350 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1780C>T (p.Arg594Ter) single nucleotide variant Premature ovarian failure 21 [RCV003159542]|Premature ovarian insufficiency [RCV000766166] Chr3:189894239 [GRCh38]
Chr3:189612028 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1794G>A (p.Trp598Ter) single nucleotide variant Premature ovarian failure 21 [RCV003159543]|Premature ovarian insufficiency [RCV000766167] Chr3:189894253 [GRCh38]
Chr3:189612042 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.255G>A (p.Ala85=) single nucleotide variant TP63-Related Spectrum Disorders [RCV000916091] Chr3:189738705 [GRCh38]
Chr3:189456494 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.935G>T (p.Cys312Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV000807212] Chr3:189867885 [GRCh38]
Chr3:189585674 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1748A>T (p.Asp583Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV000824374] Chr3:189894207 [GRCh38]
Chr3:189611996 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.254C>T (p.Ala85Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591823]|not provided [RCV000998189] Chr3:189738704 [GRCh38]
Chr3:189456493 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.952C>T (p.Arg318Cys) single nucleotide variant TP63-Related Spectrum Disorders [RCV000805973]|TP63-related condition [RCV003411777]|not provided [RCV001545357] Chr3:189867902 [GRCh38]
Chr3:189585691 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1350-75_1492del deletion Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000787270] Chr3:189886318..189886535 [GRCh38]
Chr3:189604107..189604324 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1693T>G (p.Phe565Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV000805566] Chr3:189890829 [GRCh38]
Chr3:189608618 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.*471A>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001149680]|Orofacial cleft 8 [RCV001149678]|TP63-Related Spectrum Disorders [RCV001149679] Chr3:189894973 [GRCh38]
Chr3:189612762 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1880G>A (p.Ser627Asn) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001151065]|Orofacial cleft 8 [RCV001147720]|TP63-Related Spectrum Disorders [RCV001151066] Chr3:189894339 [GRCh38]
Chr3:189612128 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.12:g.(?_189864212)_(189873015_?)del deletion TP63-Related Spectrum Disorders [RCV000811347] Chr3:189864212..189873015 [GRCh38]
Chr3:189582001..189590804 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.325-18543_325-18542insAGAG insertion Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000987372]|not provided [RCV001712837] Chr3:189789729..189789730 [GRCh38]
Chr3:189507518..189507519 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000987374]|TP63-Related Spectrum Disorders [RCV001858664] Chr3:189889360 [GRCh38]
Chr3:189607149 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147717]|Inborn genetic diseases [RCV002557162]|Orofacial cleft 8 [RCV001147718]|TP63-Related Spectrum Disorders [RCV001147719] Chr3:189894336 [GRCh38]
Chr3:189612125 [GRCh37]
Chr3:3q28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.-87C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001146479]|Orofacial cleft 8 [RCV001146481]|TP63-Related Spectrum Disorders [RCV001146480] Chr3:189631429 [GRCh38]
Chr3:189349218 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000850386] Chr3:189890821 [GRCh38]
Chr3:189608610 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1042C>G (p.Pro348Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV000816938] Chr3:189868629 [GRCh38]
Chr3:189586418 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.738C>G (p.Asn246Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV000809190] Chr3:189864390 [GRCh38]
Chr3:189582179 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.927CAG[1] (p.Ser311del) microsatellite TP63-Related Spectrum Disorders [RCV000804668] Chr3:189867877..189867879 [GRCh38]
Chr3:189585666..189585668 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1748A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001148440]|Orofacial cleft 8 [RCV001148442]|TP63-Related Spectrum Disorders [RCV001148441] Chr3:189896250 [GRCh38]
Chr3:189614039 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_003722.5(TP63):c.*280G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001146914]|Orofacial cleft 8 [RCV001146913]|TP63-Related Spectrum Disorders [RCV001146915] Chr3:189894782 [GRCh38]
Chr3:189612571 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1169T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001145455]|Orofacial cleft 8 [RCV001145457]|TP63-Related Spectrum Disorders [RCV001145456] Chr3:189895671 [GRCh38]
Chr3:189613460 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.387G>A (p.Ser129=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001146604]|Orofacial cleft 8 [RCV001146603]|TP63-Related Spectrum Disorders [RCV001146605] Chr3:189808334 [GRCh38]
Chr3:189526123 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.1761G>A (p.Leu587=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147713]|Orofacial cleft 8 [RCV001146825]|TP63-Related Spectrum Disorders [RCV001146824] Chr3:189894220 [GRCh38]
Chr3:189612009 [GRCh37]
Chr3:3q28		 conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.*1343T>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001149890]|Orofacial cleft 8 [RCV001149888]|TP63-Related Spectrum Disorders [RCV001149889] Chr3:189895845 [GRCh38]
Chr3:189613634 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*802G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001148237]|Orofacial cleft 8 [RCV001148239]|TP63-Related Spectrum Disorders [RCV001148238] Chr3:189895304 [GRCh38]
Chr3:189613093 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1724A>G (p.Gln575Arg) single nucleotide variant Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [RCV003316884] Chr3:189890860 [GRCh38]
Chr3:189608649 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1349+40G>T single nucleotide variant not provided [RCV001609383] Chr3:189873035 [GRCh38]
Chr3:189590824 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1350-56A>C single nucleotide variant not provided [RCV001550391] Chr3:189886338 [GRCh38]
Chr3:189604127 [GRCh37]
Chr3:3q28		 likely benign
NC_000003.11:g.(?_188118572)_(192126012_?)dup duplication TP63-Related Spectrum Disorders [RCV003107730]|not provided [RCV003107731] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28		 uncertain significance|no classifications from unflagged records
NC_000003.11:g.(?_188118572)_(192126012_?)del deletion TP63-Related Spectrum Disorders [RCV003107728] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_189582001)_(189612291_?)del deletion TP63-Related Spectrum Disorders [RCV003107729] Chr3:189582001..189612291 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.62+225C>T single nucleotide variant not provided [RCV001570932] Chr3:189631802 [GRCh38]
Chr3:189349591 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+300T>C single nucleotide variant not provided [RCV001553151] Chr3:189886851 [GRCh38]
Chr3:189604640 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.63-6066G>A single nucleotide variant not provided [RCV001677423] Chr3:189731674 [GRCh38]
Chr3:189449463 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.325-18743A>G single nucleotide variant not provided [RCV001688316] Chr3:189789529 [GRCh38]
Chr3:189507318 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.325-18252dup duplication not provided [RCV001533954] Chr3:189790007..189790008 [GRCh38]
Chr3:189507796..189507797 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.766+104C>T single nucleotide variant not provided [RCV001555634] Chr3:189864522 [GRCh38]
Chr3:189582311 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.767-333C>T single nucleotide variant not provided [RCV001534195] Chr3:189866349 [GRCh38]
Chr3:189584138 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1653-264C>T single nucleotide variant not provided [RCV001693929] Chr3:189890525 [GRCh38]
Chr3:189608314 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.566C>T (p.Ser189Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002300548]|not provided [RCV001551557] Chr3:189808513 [GRCh38]
Chr3:189526302 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1129+125C>G single nucleotide variant not provided [RCV001639882] Chr3:189868841 [GRCh38]
Chr3:189586630 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.767-93T>C single nucleotide variant not provided [RCV001540760] Chr3:189866589 [GRCh38]
Chr3:189584378 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.767-40A>G single nucleotide variant not provided [RCV001715242] Chr3:189866642 [GRCh38]
Chr3:189584431 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1350-62A>G single nucleotide variant not provided [RCV001546963] Chr3:189886332 [GRCh38]
Chr3:189604121 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+264C>T single nucleotide variant not provided [RCV001618864] Chr3:189886815 [GRCh38]
Chr3:189604604 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+49783A>G single nucleotide variant not provided [RCV001677106] Chr3:189681360 [GRCh38]
Chr3:189399149 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.2006G>A (p.Arg669His) single nucleotide variant not provided [RCV000896520] Chr3:189894465 [GRCh38]
Chr3:189612254 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.552G>A (p.Ser184=) single nucleotide variant not provided [RCV000922699] Chr3:189808499 [GRCh38]
Chr3:189526288 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.673A>G (p.Ile225Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV001513730] Chr3:189864325 [GRCh38]
Chr3:189582114 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.992+8G>A single nucleotide variant ADULT syndrome [RCV002505488]|TP63-Related Spectrum Disorders [RCV002066467] Chr3:189867950 [GRCh38]
Chr3:189585739 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.900G>A (p.Thr300=) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001146717]|Orofacial cleft 8 [RCV001146718]|TP63-Related Spectrum Disorders [RCV001146716] Chr3:189867850 [GRCh38]
Chr3:189585639 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
NM_003722.5(TP63):c.825T>C (p.Tyr275=) single nucleotide variant not provided [RCV000938527] Chr3:189866740 [GRCh38]
Chr3:189584529 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.210G>C (p.Gln70His) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001144655]|Orofacial cleft 8 [RCV001144656]|TP63-Related Spectrum Disorders [RCV001144657] Chr3:189738660 [GRCh38]
Chr3:189456449 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.325-20764_325-20753del deletion not provided [RCV001539451] Chr3:189787508..189787519 [GRCh38]
Chr3:189505297..189505308 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.*2162C>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001148551]|Orofacial cleft 8 [RCV001145788]|TP63-Related Spectrum Disorders [RCV001145789] Chr3:189896664 [GRCh38]
Chr3:189614453 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1248C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147400]|Orofacial cleft 8 [RCV001147398]|TP63-Related Spectrum Disorders [RCV001147399] Chr3:189895750 [GRCh38]
Chr3:189613539 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1169T>A (p.Ile390Asn) single nucleotide variant Limb-mammary syndrome [RCV001197927] Chr3:189869363 [GRCh38]
Chr3:189587152 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.325-18607G>C single nucleotide variant not provided [RCV001597845] Chr3:189789665 [GRCh38]
Chr3:189507454 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1508-126C>T single nucleotide variant not provided [RCV001563477] Chr3:189889214 [GRCh38]
Chr3:189607003 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1349+269G>T single nucleotide variant not provided [RCV001655937] Chr3:189873264 [GRCh38]
Chr3:189591053 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1130-237T>C single nucleotide variant not provided [RCV001644028] Chr3:189869087 [GRCh38]
Chr3:189586876 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.374A>C (p.Gln125Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV001866009]|TP63-related condition [RCV003983979]|not provided [RCV001568515] Chr3:189808321 [GRCh38]
Chr3:189526110 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.62+24991T>A single nucleotide variant not provided [RCV001620373] Chr3:189656568 [GRCh38]
Chr3:189374357 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+50167A>G single nucleotide variant not provided [RCV001620382] Chr3:189681744 [GRCh38]
Chr3:189399533 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.325-268A>G single nucleotide variant not provided [RCV001555596] Chr3:189808004 [GRCh38]
Chr3:189525793 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.882+321T>G single nucleotide variant not provided [RCV001555839] Chr3:189867118 [GRCh38]
Chr3:189584907 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1460G>A (p.Arg487His) single nucleotide variant Skeletal dysplasia [RCV002465055] Chr3:189886504 [GRCh38]
Chr3:189604293 [GRCh37]
Chr3:3q28		 uncertain significance
NM_001329964.2(TP63):c.56+33942_56+33946del deletion not provided [RCV001672007] Chr3:189631180..189631184 [GRCh38]
Chr3:189348969..189348973 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.191+254C>G single nucleotide variant not provided [RCV001619637] Chr3:189738122 [GRCh38]
Chr3:189455911 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1350-34T>C single nucleotide variant not provided [RCV001715196] Chr3:189886360 [GRCh38]
Chr3:189604149 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.324+166C>G single nucleotide variant not provided [RCV001685705] Chr3:189738940 [GRCh38]
Chr3:189456729 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.882+304G>A single nucleotide variant not provided [RCV001715197] Chr3:189867101 [GRCh38]
Chr3:189584890 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.767-338A>G single nucleotide variant not provided [RCV001719552] Chr3:189866344 [GRCh38]
Chr3:189584133 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.992+299T>G single nucleotide variant not provided [RCV001676962] Chr3:189868241 [GRCh38]
Chr3:189586030 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.992+121C>T single nucleotide variant not provided [RCV001638218] Chr3:189868063 [GRCh38]
Chr3:189585852 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1507+269A>G single nucleotide variant not provided [RCV001594489] Chr3:189886820 [GRCh38]
Chr3:189604609 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.993-187A>G single nucleotide variant not provided [RCV001657337] Chr3:189868393 [GRCh38]
Chr3:189586182 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1127G>A (p.Arg376His) single nucleotide variant TP63-Related Spectrum Disorders [RCV002073371]|TP63-related condition [RCV003948692]|not provided [RCV001720461] Chr3:189868714 [GRCh38]
Chr3:189586503 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.*2357C>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001143987]|Orofacial cleft 8 [RCV001143988]|TP63-Related Spectrum Disorders [RCV001143986] Chr3:189896859 [GRCh38]
Chr3:189614648 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*759G>A single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001145371]|Orofacial cleft 8 [RCV001148235]|TP63-Related Spectrum Disorders [RCV001148236] Chr3:189895261 [GRCh38]
Chr3:189613050 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1437C>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001145564]|Orofacial cleft 8 [RCV001145563]|TP63-Related Spectrum Disorders [RCV001145562] Chr3:189895939 [GRCh38]
Chr3:189613728 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.62+49875T>C single nucleotide variant not provided [RCV001610940] Chr3:189681452 [GRCh38]
Chr3:189399241 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-6311C>T single nucleotide variant not provided [RCV001694440] Chr3:189731429 [GRCh38]
Chr3:189449218 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-6274G>T single nucleotide variant not provided [RCV001615424] Chr3:189731466 [GRCh38]
Chr3:189449255 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.883-88G>C single nucleotide variant not provided [RCV001585312] Chr3:189867745 [GRCh38]
Chr3:189585534 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.63-30964A>T single nucleotide variant not provided [RCV001666068] Chr3:189706776 [GRCh38]
Chr3:189424565 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.324+76T>C single nucleotide variant not provided [RCV001707944] Chr3:189738850 [GRCh38]
Chr3:189456639 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+25276G>C single nucleotide variant not provided [RCV001614485] Chr3:189656853 [GRCh38]
Chr3:189374642 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1350-6145G>A single nucleotide variant not provided [RCV001583883] Chr3:189880249 [GRCh38]
Chr3:189598038 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.*820C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001149784]|Orofacial cleft 8 [RCV001149786]|TP63-Related Spectrum Disorders [RCV001149785] Chr3:189895322 [GRCh38]
Chr3:189613111 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*1377C>T single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001149893]|Orofacial cleft 8 [RCV001149892]|TP63-Related Spectrum Disorders [RCV001149891] Chr3:189895879 [GRCh38]
Chr3:189613668 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*736T>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001145368]|Orofacial cleft 8 [RCV001145369]|TP63-Related Spectrum Disorders [RCV001145370] Chr3:189895238 [GRCh38]
Chr3:189613027 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.61C>T (p.Arg21Cys) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150758]|Orofacial cleft 8 [RCV001150757]|TP63-Related Spectrum Disorders [RCV001150759] Chr3:189631576 [GRCh38]
Chr3:189349365 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.688G>C (p.Val230Leu) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150861]|Orofacial cleft 8 [RCV001150859]|TP63-Related Spectrum Disorders [RCV001150860]|not provided [RCV001354747] Chr3:189864340 [GRCh38]
Chr3:189582129 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1523C>T (p.Thr508Ile) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150953]|Orofacial cleft 8 [RCV001150951]|TP63-Related Spectrum Disorders [RCV001150952] Chr3:189889355 [GRCh38]
Chr3:189607144 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150948]|Orofacial cleft 8 [RCV001150949]|TP63-Related Spectrum Disorders [RCV001150950] Chr3:189886509 [GRCh38]
Chr3:189604298 [GRCh37]
Chr3:3q28		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003722.5(TP63):c.1711A>C (p.Thr571Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV001204027] Chr3:189890847 [GRCh38]
Chr3:189608636 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1834T>G (p.Ser612Ala) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001147715]|Orofacial cleft 8 [RCV001147716]|TP63-Related Spectrum Disorders [RCV001147714] Chr3:189894293 [GRCh38]
Chr3:189612082 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.-3G>C single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001150755]|Orofacial cleft 8 [RCV001150754]|TP63-Related Spectrum Disorders [RCV001150756] Chr3:189631513 [GRCh38]
Chr3:189349302 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.847A>G (p.Arg283Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV001041813] Chr3:189866762 [GRCh38]
Chr3:189584551 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.*2016A>G single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001143884]|Orofacial cleft 8 [RCV001143885]|TP63-Related Spectrum Disorders [RCV001143886] Chr3:189896518 [GRCh38]
Chr3:189614307 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1861del (p.Ser621fs) deletion Limb-mammary syndrome [RCV002274186]|TP63-Related Spectrum Disorders [RCV001324784] Chr3:189894319 [GRCh38]
Chr3:189612108 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.1050A>T (p.Arg350Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV001372592] Chr3:189868637 [GRCh38]
Chr3:189586426 [GRCh37]
Chr3:3q28		 pathogenic|uncertain significance
NM_003722.5(TP63):c.580-11A>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002070228]|not provided [RCV001355643] Chr3:189864221 [GRCh38]
Chr3:189582010 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.1007G>A (p.Gly336Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV001382756]|not provided [RCV001726542] Chr3:189868594 [GRCh38]
Chr3:189586383 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.799G>A (p.Val267Ile) single nucleotide variant ADULT syndrome [RCV003333764]|TP63-Related Spectrum Disorders [RCV001362555] Chr3:189866714 [GRCh38]
Chr3:189584503 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1697C>T (p.Thr566Met) single nucleotide variant ADULT syndrome [RCV002493783]|TP63-Related Spectrum Disorders [RCV001346460] Chr3:189890833 [GRCh38]
Chr3:189608622 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.796C>T (p.Arg266Ter) single nucleotide variant TP63-Related Spectrum Disorders [RCV001317802] Chr3:189866711 [GRCh38]
Chr3:189584500 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1121C>T (p.Thr374Met) single nucleotide variant ADULT syndrome [RCV002486385]|TP63-Related Spectrum Disorders [RCV001342203] Chr3:189868708 [GRCh38]
Chr3:189586497 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_189582001)_(189590804_?)del deletion TP63-Related Spectrum Disorders [RCV001323030] Chr3:189582001..189590804 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1027C>G (p.Arg343Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV001359642] Chr3:189868614 [GRCh38]
Chr3:189586403 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1213-17del deletion TP63-Related Spectrum Disorders [RCV001475010] Chr3:189872841 [GRCh38]
Chr3:189590630 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.708C>T (p.His236=) single nucleotide variant TP63-Related Spectrum Disorders [RCV001492704] Chr3:189864360 [GRCh38]
Chr3:189582149 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1885G>A (p.Gly629Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV001428608] Chr3:189894344 [GRCh38]
Chr3:189612133 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1670G>T (p.Gly557Val) single nucleotide variant ADULT syndrome [RCV003136064]|TP63-Related Spectrum Disorders [RCV001390109] Chr3:189890806 [GRCh38]
Chr3:189608595 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_003722.5(TP63):c.1129+296dup duplication not provided [RCV001534200] Chr3:189869011..189869012 [GRCh38]
Chr3:189586800..189586801 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-149A>G single nucleotide variant not provided [RCV001681571] Chr3:189737591 [GRCh38]
Chr3:189455380 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.579+39T>A single nucleotide variant not provided [RCV001693156] Chr3:189808565 [GRCh38]
Chr3:189526354 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+6895T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV001510106] Chr3:189638472 [GRCh38]
Chr3:189356261 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.325-18800T>G single nucleotide variant not provided [RCV001674099] Chr3:189789472 [GRCh38]
Chr3:189507261 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-6388del deletion not provided [RCV001665266] Chr3:189731344 [GRCh38]
Chr3:189449133 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-336A>G single nucleotide variant not provided [RCV001686369] Chr3:189737404 [GRCh38]
Chr3:189455193 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.325-75_325-74del deletion not provided [RCV001715199] Chr3:189808196..189808197 [GRCh38]
Chr3:189525985..189525986 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.766+294A>G single nucleotide variant not provided [RCV001686778] Chr3:189864712 [GRCh38]
Chr3:189582501 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.192-287A>G single nucleotide variant not provided [RCV001581967] Chr3:189738355 [GRCh38]
Chr3:189456144 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.62+24867G>T single nucleotide variant not provided [RCV001647697] Chr3:189656444 [GRCh38]
Chr3:189374233 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+50004G>A single nucleotide variant not provided [RCV001619053] Chr3:189681581 [GRCh38]
Chr3:189399370 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1130-283A>G single nucleotide variant not provided [RCV001670300] Chr3:189869041 [GRCh38]
Chr3:189586830 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1626G>A (p.Pro542=) single nucleotide variant ADULT syndrome [RCV002488244]|TP63-Related Spectrum Disorders [RCV001436269]|TP63-related condition [RCV003938759] Chr3:189889458 [GRCh38]
Chr3:189607247 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.62+8236T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV001516871] Chr3:189639813 [GRCh38]
Chr3:189357602 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.62+25231C>T single nucleotide variant not provided [RCV002244390] Chr3:189656808 [GRCh38]
Chr3:189374597 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1350-6232G>A single nucleotide variant not provided [RCV001727278] Chr3:189880162 [GRCh38]
Chr3:189597951 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.563_571del (p.Lys188_Ala190del) deletion Split hand-foot malformation 4 [RCV002244562] Chr3:189808506..189808514 [GRCh38]
Chr3:189526295..189526303 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.324+7G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003094044]|not specified [RCV002246867] Chr3:189738781 [GRCh38]
Chr3:189456570 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.881A>G (p.Gln294Arg) single nucleotide variant Split hand-foot malformation 4 [RCV001729984] Chr3:189866796 [GRCh38]
Chr3:189584585 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1009C>T (p.Arg337Ter) single nucleotide variant not provided [RCV003127110] Chr3:189868596 [GRCh38]
Chr3:189586385 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.62+49918G>A single nucleotide variant not provided [RCV001787517] Chr3:189681495 [GRCh38]
Chr3:189399284 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1204T>C (p.Tyr402His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757226]|not provided [RCV001767497] Chr3:189869398 [GRCh38]
Chr3:189587187 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.2021G>A (p.Arg674His) single nucleotide variant ADULT syndrome [RCV002488602]|not provided [RCV001766033]|not specified [RCV003331198] Chr3:189894480 [GRCh38]
Chr3:189612269 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1350-5670A>G single nucleotide variant not provided [RCV003238621] Chr3:189880724 [GRCh38]
Chr3:189598513 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.970_972del (p.Ile324del) deletion TP63-related condition [RCV003407806]|not provided [RCV001783894] Chr3:189867920..189867922 [GRCh38]
Chr3:189585709..189585711 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.383C>T (p.Ser128Phe) single nucleotide variant not provided [RCV001797481] Chr3:189808330 [GRCh38]
Chr3:189526119 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.858dup (p.Leu287fs) duplication Rapp-Hodgkin ectodermal dysplasia syndrome [RCV001809126] Chr3:189866772..189866773 [GRCh38]
Chr3:189584561..189584562 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_001114980.2(TP63):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001816379] Chr3:189789802 [GRCh38]
Chr3:189507591 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.3G>T (p.Met1Ile) single nucleotide variant Furrowed tongue [RCV001810511] Chr3:189631518 [GRCh38]
Chr3:189349307 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) single nucleotide variant ADULT syndrome [RCV003154197]|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001808011] Chr3:189866717 [GRCh38]
Chr3:189584506 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1583C>A (p.Pro528Gln) single nucleotide variant TP63-Related Spectrum Disorders [RCV001888941]|not provided [RCV002508326] Chr3:189889415 [GRCh38]
Chr3:189607204 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.286A>G (p.Ile96Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV002002063] Chr3:189738736 [GRCh38]
Chr3:189456525 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1320G>T (p.Gln440His) single nucleotide variant TP63-Related Spectrum Disorders [RCV001870924] Chr3:189872966 [GRCh38]
Chr3:189590755 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_189526041)_(192126012_?)dup duplication not provided [RCV001987827] Chr3:189526041..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1537G>C (p.Ala513Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV001864370] Chr3:189889369 [GRCh38]
Chr3:189607158 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.670G>C (p.Val224Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001910897] Chr3:189864322 [GRCh38]
Chr3:189582111 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.709G>A (p.Val237Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV001912395] Chr3:189864361 [GRCh38]
Chr3:189582150 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.673A>T (p.Ile225Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV001891508] Chr3:189864325 [GRCh38]
Chr3:189582114 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.929G>A (p.Ser310Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV001984339] Chr3:189867879 [GRCh38]
Chr3:189585668 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.538T>G (p.Ser180Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV002022541] Chr3:189808485 [GRCh38]
Chr3:189526274 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1352C>G (p.Thr451Ser) single nucleotide variant ADULT syndrome [RCV002479739]|TP63-Related Spectrum Disorders [RCV002022652] Chr3:189886396 [GRCh38]
Chr3:189604185 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1416G>T (p.Met472Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV001890601] Chr3:189886460 [GRCh38]
Chr3:189604249 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.797G>T (p.Arg266Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002003678] Chr3:189866712 [GRCh38]
Chr3:189584501 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001849646] Chr3:189868599 [GRCh38]
Chr3:189586388 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1892G>A (p.Ser631Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV001966197] Chr3:189894351 [GRCh38]
Chr3:189612140 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1400A>G (p.Asn467Ser) single nucleotide variant Inborn genetic diseases [RCV003167193]|TP63-Related Spectrum Disorders [RCV001947977] Chr3:189886444 [GRCh38]
Chr3:189604233 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.411C>G (p.Asp137Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001895082] Chr3:189808358 [GRCh38]
Chr3:189526147 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28(chr3:189402113-189899616) copy number loss not specified [RCV002053398] Chr3:189402113..189899616 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1464C>G (p.Asn488Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV001908495] Chr3:189886508 [GRCh38]
Chr3:189604297 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1475C>T (p.Pro492Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001966998] Chr3:189886519 [GRCh38]
Chr3:189604308 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1130C>T (p.Pro377Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001926968] Chr3:189869324 [GRCh38]
Chr3:189587113 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1449C>A (p.Asn483Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV001968945] Chr3:189886493 [GRCh38]
Chr3:189604282 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1492G>A (p.Gly498Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002043063] Chr3:189886536 [GRCh38]
Chr3:189604325 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1695C>A (p.Phe565Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002007150] Chr3:189890831 [GRCh38]
Chr3:189608620 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1530G>T (p.Met510Ile) single nucleotide variant Inborn genetic diseases [RCV003303347]|TP63-Related Spectrum Disorders [RCV001908725] Chr3:189889362 [GRCh38]
Chr3:189607151 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1789A>T (p.Ile597Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV001836681] Chr3:189894248 [GRCh38]
Chr3:189612037 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.517G>A (p.Gly173Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002000613] Chr3:189808464 [GRCh38]
Chr3:189526253 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1973G>A (p.Trp658Ter) single nucleotide variant TP63-Related Spectrum Disorders [RCV002046983] Chr3:189894432 [GRCh38]
Chr3:189612221 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1497G>A (p.Met499Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002029808] Chr3:189886541 [GRCh38]
Chr3:189604330 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1095G>A (p.Ser365=) single nucleotide variant ADULT syndrome [RCV002497866]|TP63-Related Spectrum Disorders [RCV002037680] Chr3:189868682 [GRCh38]
Chr3:189586471 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.125A>T (p.Gln42Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002001328] Chr3:189737802 [GRCh38]
Chr3:189455591 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1583dup (p.Leu529fs) duplication TP63-Related Spectrum Disorders [RCV001941997] Chr3:189889410..189889411 [GRCh38]
Chr3:189607199..189607200 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1769C>T (p.Pro590Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001981050]|TP63-related condition [RCV003418299]|not provided [RCV003442992] Chr3:189894228 [GRCh38]
Chr3:189612017 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1590C>T (p.Ser530=) single nucleotide variant TP63-Related Spectrum Disorders [RCV001960857] Chr3:189889422 [GRCh38]
Chr3:189607211 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1334A>G (p.His445Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV002030493] Chr3:189872980 [GRCh38]
Chr3:189590769 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1129+5G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV001951788] Chr3:189868721 [GRCh38]
Chr3:189586510 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.796C>A (p.Arg266=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002028180] Chr3:189866711 [GRCh38]
Chr3:189584500 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.110G>A (p.Arg37Gln) single nucleotide variant ADULT syndrome [RCV002482760]|TP63-Related Spectrum Disorders [RCV001922562] Chr3:189737787 [GRCh38]
Chr3:189455576 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.961A>G (p.Ile321Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV001931596] Chr3:189867911 [GRCh38]
Chr3:189585700 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr) single nucleotide variant ADULT syndrome [RCV002466729]|TP63-Related Spectrum Disorders [RCV001971798] Chr3:189889402 [GRCh38]
Chr3:189607191 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.50C>G (p.Pro17Arg) single nucleotide variant ADULT syndrome [RCV002479438]|TP63-Related Spectrum Disorders [RCV001917025] Chr3:189631565 [GRCh38]
Chr3:189349354 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.473C>T (p.Ala158Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV001875443] Chr3:189808420 [GRCh38]
Chr3:189526209 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.882+19A>T single nucleotide variant ADULT syndrome [RCV002503666]|TP63-Related Spectrum Disorders [RCV001974726] Chr3:189866816 [GRCh38]
Chr3:189584605 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.578C>G (p.Thr193Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV001933292] Chr3:189808525 [GRCh38]
Chr3:189526314 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.328C>T (p.Gln110Ter) single nucleotide variant TP63-Related Spectrum Disorders [RCV001993140] Chr3:189808275 [GRCh38]
Chr3:189526064 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.444C>G (p.Pro148=) single nucleotide variant TP63-Related Spectrum Disorders [RCV001973604] Chr3:189808391 [GRCh38]
Chr3:189526180 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1573C>T (p.Leu525Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV001993510] Chr3:189889405 [GRCh38]
Chr3:189607194 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del) microsatellite ADULT syndrome [RCV002482573]|TP63-Related Spectrum Disorders [RCV001877272] Chr3:189894289..189894291 [GRCh38]
Chr3:189612078..189612080 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1695C>G (p.Phe565Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV001973838] Chr3:189890831 [GRCh38]
Chr3:189608620 [GRCh37]
Chr3:3q28		 likely pathogenic
NC_000003.11:g.(?_189349285)_(189612311_?)dup duplication TP63-Related Spectrum Disorders [RCV002017020] Chr3:189349285..189612311 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1394C>T (p.Pro465Leu) single nucleotide variant ADULT syndrome [RCV002479821]|TP63-Related Spectrum Disorders [RCV002036054] Chr3:189886438 [GRCh38]
Chr3:189604227 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.571A>T (p.Thr191Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV001925684] Chr3:189808518 [GRCh38]
Chr3:189526307 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.2003G>A (p.Arg668His) single nucleotide variant ADULT syndrome [RCV002507738]|TP63-Related Spectrum Disorders [RCV001977796] Chr3:189894462 [GRCh38]
Chr3:189612251 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1507+6_1507+7del microsatellite TP63-Related Spectrum Disorders [RCV001883415] Chr3:189886555..189886556 [GRCh38]
Chr3:189604344..189604345 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) single nucleotide variant ADULT syndrome [RCV002484467]|TP63-Related Spectrum Disorders [RCV001923091]|not provided [RCV002272528] Chr3:189894273 [GRCh38]
Chr3:189612062 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.1888T>C (p.Ser630Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV001938886] Chr3:189894347 [GRCh38]
Chr3:189612136 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1550A>G (p.Asn517Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV001878641] Chr3:189889382 [GRCh38]
Chr3:189607171 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1612A>G (p.Thr538Ala) single nucleotide variant ADULT syndrome [RCV002486578]|TP63-Related Spectrum Disorders [RCV002012813] Chr3:189889444 [GRCh38]
Chr3:189607233 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1111G>A (p.Gly371Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV001905916] Chr3:189868698 [GRCh38]
Chr3:189586487 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1537G>A (p.Ala513Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV002019477] Chr3:189889369 [GRCh38]
Chr3:189607158 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1413C>T (p.Ser471=) single nucleotide variant TP63-Related Spectrum Disorders [RCV001940529] Chr3:189886457 [GRCh38]
Chr3:189604246 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.1807G>C (p.Asp603His) single nucleotide variant ADULT syndrome [RCV002484647]|TP63-Related Spectrum Disorders [RCV001982230] Chr3:189894266 [GRCh38]
Chr3:189612055 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.192-9A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV001907070] Chr3:189738633 [GRCh38]
Chr3:189456422 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.62G>A (p.Arg21His) single nucleotide variant ADULT syndrome [RCV002479771]|TP63-Related Spectrum Disorders [RCV002011531] Chr3:189631577 [GRCh38]
Chr3:189349366 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1129C>T (p.Pro377Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002028380] Chr3:189868716 [GRCh38]
Chr3:189586505 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1488T>A (p.Pro496=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002190252] Chr3:189886532 [GRCh38]
Chr3:189604321 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1464C>T (p.Asn488=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002085972] Chr3:189886508 [GRCh38]
Chr3:189604297 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1110C>T (p.Asn370=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002190970] Chr3:189868697 [GRCh38]
Chr3:189586486 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1213-20C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002205110] Chr3:189872839 [GRCh38]
Chr3:189590628 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.176G>C (p.Trp59Ser) single nucleotide variant not provided [RCV002223708] Chr3:189737853 [GRCh38]
Chr3:189455642 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.648G>C (p.Met216Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002124758] Chr3:189864300 [GRCh38]
Chr3:189582089 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.63-17A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002208916] Chr3:189737723 [GRCh38]
Chr3:189455512 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1213-4A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002166855]|TP63-related condition [RCV003968716] Chr3:189872855 [GRCh38]
Chr3:189590644 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.882+15dup duplication TP63-Related Spectrum Disorders [RCV002127390] Chr3:189866806..189866807 [GRCh38]
Chr3:189584595..189584596 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) single nucleotide variant ADULT syndrome [RCV002480958]|TP63-Related Spectrum Disorders [RCV002125117]|TP63-related condition [RCV003913742] Chr3:189631535 [GRCh38]
Chr3:189349324 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.417G>A (p.Ala139=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002209824] Chr3:189808364 [GRCh38]
Chr3:189526153 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1459C>T (p.Arg487Cys) single nucleotide variant TP63-Related Spectrum Disorders [RCV002209832]|TP63-related condition [RCV003403678] Chr3:189886503 [GRCh38]
Chr3:189604292 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_003722.5(TP63):c.498C>T (p.Pro166=) single nucleotide variant ADULT syndrome [RCV002494016]|TP63-Related Spectrum Disorders [RCV002089997] Chr3:189808445 [GRCh38]
Chr3:189526234 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_003722.5(TP63):c.324+11C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002191039] Chr3:189738785 [GRCh38]
Chr3:189456574 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1652+14A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002152335] Chr3:189889498 [GRCh38]
Chr3:189607287 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1662G>A (p.Ala554=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002105510] Chr3:189890798 [GRCh38]
Chr3:189608587 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.156A>G (p.Pro52=) single nucleotide variant ADULT syndrome [RCV002500006]|TP63-Related Spectrum Disorders [RCV002105821] Chr3:189737833 [GRCh38]
Chr3:189455622 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.522G>A (p.Pro174=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002096286] Chr3:189808469 [GRCh38]
Chr3:189526258 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1213-12T>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002113411] Chr3:189872847 [GRCh38]
Chr3:189590636 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.883-15A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002208593] Chr3:189867818 [GRCh38]
Chr3:189585607 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1130-17C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002216300] Chr3:189869307 [GRCh38]
Chr3:189587096 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1480A>G (p.Thr494Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV002132136] Chr3:189886524 [GRCh38]
Chr3:189604313 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.432G>A (p.Thr144=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002132236] Chr3:189808379 [GRCh38]
Chr3:189526168 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.654A>G (p.Pro218=) single nucleotide variant ADULT syndrome [RCV002494367]|TP63-Related Spectrum Disorders [RCV002108809] Chr3:189864306 [GRCh38]
Chr3:189582095 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1575C>T (p.Leu525=) single nucleotide variant ADULT syndrome [RCV002507993]|TP63-Related Spectrum Disorders [RCV002115592] Chr3:189889407 [GRCh38]
Chr3:189607196 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.936T>C (p.Cys312=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002088045] Chr3:189867886 [GRCh38]
Chr3:189585675 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1717_1719dup (p.Ile573dup) duplication not provided [RCV002214309] Chr3:189890851..189890852 [GRCh38]
Chr3:189608640..189608641 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.579+8C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002187384] Chr3:189808534 [GRCh38]
Chr3:189526323 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.475C>T (p.Leu159Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV002211558] Chr3:189808422 [GRCh38]
Chr3:189526211 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1653-10C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002153268] Chr3:189890779 [GRCh38]
Chr3:189608568 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.448G>A (p.Ala150Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV002213566] Chr3:189808395 [GRCh38]
Chr3:189526184 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.141T>C (p.Asn47=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002219151] Chr3:189737818 [GRCh38]
Chr3:189455607 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1527C>T (p.His509=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002119333]|TP63-related condition [RCV003933569] Chr3:189889359 [GRCh38]
Chr3:189607148 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1062G>A (p.Ala354=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002183298] Chr3:189868649 [GRCh38]
Chr3:189586438 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.894A>G (p.Glu298=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002162140] Chr3:189867844 [GRCh38]
Chr3:189585633 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.993-18C>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002183963] Chr3:189868562 [GRCh38]
Chr3:189586351 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002122523]|not provided [RCV002464516] Chr3:189886411 [GRCh38]
Chr3:189604200 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_003722.5(TP63):c.1701C>T (p.Thr567=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002143943] Chr3:189890837 [GRCh38]
Chr3:189608626 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+7G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002177368] Chr3:189886558 [GRCh38]
Chr3:189604347 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.191+9A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002158171] Chr3:189737877 [GRCh38]
Chr3:189455666 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.456C>T (p.Pro152=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002184731] Chr3:189808403 [GRCh38]
Chr3:189526192 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1824C>T (p.His608=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002219410] Chr3:189894283 [GRCh38]
Chr3:189612072 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.62+8236_62+8237inv inversion TP63-Related Spectrum Disorders [RCV002122225] Chr3:189639813..189639814 [GRCh38]
Chr3:189357602..189357603 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1746+10T>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002142917] Chr3:189890892 [GRCh38]
Chr3:189608681 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1044A>G (p.Pro348=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002137213] Chr3:189868631 [GRCh38]
Chr3:189586420 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.63-20T>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002084373] Chr3:189737720 [GRCh38]
Chr3:189455509 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.75C>T (p.Thr25=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002201139] Chr3:189737752 [GRCh38]
Chr3:189455541 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.405C>T (p.Asn135=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002182495] Chr3:189808352 [GRCh38]
Chr3:189526141 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.19C>T (p.Arg7Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757247]|not provided [RCV003109955] Chr3:189631534 [GRCh38]
Chr3:189349323 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_189455509)_(192126012_?)dup duplication not provided [RCV003109805] Chr3:189455509..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.945G>A (p.Gly315=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003111877] Chr3:189867895 [GRCh38]
Chr3:189585684 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1436G>A (p.Ser479Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV003112027] Chr3:189886480 [GRCh38]
Chr3:189604269 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.2040G>C (p.Glu680Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003116272] Chr3:189894499 [GRCh38]
Chr3:189612288 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.290G>C (p.Arg97Pro) single nucleotide variant Premature ovarian failure 21 [RCV003159546]|Premature ovarian insufficiency [RCV002291803] Chr3:189738740 [GRCh38]
Chr3:189456529 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1939C>T (p.Arg647Cys) single nucleotide variant Premature ovarian failure 21 [RCV003159547]|Premature ovarian insufficiency [RCV002291804] Chr3:189894398 [GRCh38]
Chr3:189612187 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.883-139A>G single nucleotide variant not provided [RCV002286146] Chr3:189867694 [GRCh38]
Chr3:189585483 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.934T>G (p.Cys312Gly) single nucleotide variant not provided [RCV002293099] Chr3:189867884 [GRCh38]
Chr3:189585673 [GRCh37]
Chr3:3q28		 likely pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
NM_003722.5(TP63):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV002263339] Chr3:189808468 [GRCh38]
Chr3:189526257 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
NM_003722.5(TP63):c.53A>G (p.Tyr18Cys) single nucleotide variant Premature ovarian insufficiency [RCV002291805] Chr3:189631568 [GRCh38]
Chr3:189349357 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1583C>T (p.Pro528Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002858637] Chr3:189889415 [GRCh38]
Chr3:189607204 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.730T>C (p.Cys244Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV002304670] Chr3:189864382 [GRCh38]
Chr3:189582171 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1454A>G (p.Gln485Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV002305337] Chr3:189886498 [GRCh38]
Chr3:189604287 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1445T>C (p.Ile482Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV002299611] Chr3:189886489 [GRCh38]
Chr3:189604278 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.142G>A (p.Glu48Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV002301730] Chr3:189737819 [GRCh38]
Chr3:189455608 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.369G>C (p.Gln123His) single nucleotide variant TP63-Related Spectrum Disorders [RCV002301578] Chr3:189808316 [GRCh38]
Chr3:189526105 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1874C>T (p.Thr625Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002301757] Chr3:189894333 [GRCh38]
Chr3:189612122 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.643G>T (p.Val215Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002301987] Chr3:189864295 [GRCh38]
Chr3:189582084 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.993-15T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV002971394] Chr3:189868565 [GRCh38]
Chr3:189586354 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1912G>A (p.Val638Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002615920] Chr3:189894371 [GRCh38]
Chr3:189612160 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.465C>G (p.Thr155=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002816162] Chr3:189808412 [GRCh38]
Chr3:189526201 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1518G>A (p.Met506Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002615244] Chr3:189889350 [GRCh38]
Chr3:189607139 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1110C>A (p.Asn370Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV002993702] Chr3:189868697 [GRCh38]
Chr3:189586486 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.725A>G (p.Lys242Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV002780141] Chr3:189864377 [GRCh38]
Chr3:189582166 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.2018A>G (p.Gln673Arg) single nucleotide variant Inborn genetic diseases [RCV002884082] Chr3:189894477 [GRCh38]
Chr3:189612266 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.117C>T (p.Thr39=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003097598] Chr3:189737794 [GRCh38]
Chr3:189455583 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1177C>A (p.Arg393=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003035107] Chr3:189869371 [GRCh38]
Chr3:189587160 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.144A>T (p.Glu48Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV002842272] Chr3:189737821 [GRCh38]
Chr3:189455610 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1213-10A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002512460] Chr3:189872849 [GRCh38]
Chr3:189590638 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.325-7C>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002838186] Chr3:189808265 [GRCh38]
Chr3:189526054 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.475C>G (p.Leu159Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV002775401] Chr3:189808422 [GRCh38]
Chr3:189526211 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.2022C>T (p.Arg674=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002774968] Chr3:189894481 [GRCh38]
Chr3:189612270 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.27C>T (p.Ala9=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002776306] Chr3:189631542 [GRCh38]
Chr3:189349331 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.882+20A>C single nucleotide variant TP63-Related Spectrum Disorders [RCV002771128] Chr3:189866817 [GRCh38]
Chr3:189584606 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.159G>C (p.Glu53Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV002907613] Chr3:189737836 [GRCh38]
Chr3:189455625 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.540C>T (p.Ser180=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003036898] Chr3:189808487 [GRCh38]
Chr3:189526276 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.561C>G (p.Ala187=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002912682] Chr3:189808508 [GRCh38]
Chr3:189526297 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1311ACAGCA[1] (p.Gln441_Gln442del) microsatellite TP63-Related Spectrum Disorders [RCV002867380] Chr3:189872954..189872959 [GRCh38]
Chr3:189590743..189590748 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.645G>A (p.Val215=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002953719] Chr3:189864297 [GRCh38]
Chr3:189582086 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.865C>T (p.Pro289Ser) single nucleotide variant Inborn genetic diseases [RCV002695362]|TP63-Related Spectrum Disorders [RCV002695363] Chr3:189866780 [GRCh38]
Chr3:189584569 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1441C>T (p.Leu481Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV002663015] Chr3:189886485 [GRCh38]
Chr3:189604274 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1770T>C (p.Pro590=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003077718]|TP63-related condition [RCV003898758] Chr3:189894229 [GRCh38]
Chr3:189612018 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+20G>C single nucleotide variant TP63-Related Spectrum Disorders [RCV002637318] Chr3:189886571 [GRCh38]
Chr3:189604360 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.861G>A (p.Leu287=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002735554] Chr3:189866776 [GRCh38]
Chr3:189584565 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.2005C>T (p.Arg669Cys) single nucleotide variant TP63-Related Spectrum Disorders [RCV002735356]|TP63-related condition [RCV003409916] Chr3:189894464 [GRCh38]
Chr3:189612253 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.279G>A (p.Met93Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002795933] Chr3:189738729 [GRCh38]
Chr3:189456518 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.824A>T (p.Tyr275Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV002923057] Chr3:189866739 [GRCh38]
Chr3:189584528 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1297G>C (p.Glu433Gln) single nucleotide variant Inborn genetic diseases [RCV002950716] Chr3:189872943 [GRCh38]
Chr3:189590732 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1302G>A (p.Thr434=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002756908] Chr3:189872948 [GRCh38]
Chr3:189590737 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1481C>T (p.Thr494Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002913503] Chr3:189886525 [GRCh38]
Chr3:189604314 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1242G>A (p.Leu414=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002659614] Chr3:189872888 [GRCh38]
Chr3:189590677 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.731G>T (p.Cys244Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV002871011] Chr3:189864383 [GRCh38]
Chr3:189582172 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1768C>T (p.Pro590Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV003017834] Chr3:189894227 [GRCh38]
Chr3:189612016 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1322A>G (p.Gln441Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV002760345] Chr3:189872968 [GRCh38]
Chr3:189590757 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1288C>A (p.His430Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV003082084] Chr3:189872934 [GRCh38]
Chr3:189590723 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1861A>G (p.Ser621Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV003085834] Chr3:189894320 [GRCh38]
Chr3:189612109 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.367C>G (p.Gln123Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003008170] Chr3:189808314 [GRCh38]
Chr3:189526103 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1780C>A (p.Arg594=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002791260] Chr3:189894239 [GRCh38]
Chr3:189612028 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1357A>G (p.Ile453Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV002928309] Chr3:189886401 [GRCh38]
Chr3:189604190 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.325-16C>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002624219] Chr3:189808256 [GRCh38]
Chr3:189526045 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1815G>A (p.Arg605=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002642492] Chr3:189894274 [GRCh38]
Chr3:189612063 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1605C>G (p.Ser535=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003058351] Chr3:189889437 [GRCh38]
Chr3:189607226 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.62+18A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV002594139] Chr3:189631595 [GRCh38]
Chr3:189349384 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1852C>A (p.Arg618=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003042217] Chr3:189894311 [GRCh38]
Chr3:189612100 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.763G>A (p.Glu255Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV003083541] Chr3:189864415 [GRCh38]
Chr3:189582204 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1735del (p.Tyr579fs) deletion TP63-Related Spectrum Disorders [RCV002982993] Chr3:189890870 [GRCh38]
Chr3:189608659 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.974T>C (p.Val325Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV003040242] Chr3:189867924 [GRCh38]
Chr3:189585713 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.313G>A (p.Asp105Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV002918955] Chr3:189738763 [GRCh38]
Chr3:189456552 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.992+14G>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002745658] Chr3:189867956 [GRCh38]
Chr3:189585745 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.131C>T (p.Thr44Ile) single nucleotide variant Inborn genetic diseases [RCV002787423] Chr3:189737808 [GRCh38]
Chr3:189455597 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.416C>T (p.Ala139Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV002982515] Chr3:189808363 [GRCh38]
Chr3:189526152 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1677A>C (p.Ser559=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002700559]|TP63-related condition [RCV003916514] Chr3:189890813 [GRCh38]
Chr3:189608602 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.956G>C (p.Arg319Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV002853189] Chr3:189867906 [GRCh38]
Chr3:189585695 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.26C>G (p.Ala9Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV002953901] Chr3:189631541 [GRCh38]
Chr3:189349330 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1873A>G (p.Thr625Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV002745321] Chr3:189894332 [GRCh38]
Chr3:189612121 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1781G>A (p.Arg594Gln) single nucleotide variant TP63-Related Spectrum Disorders [RCV002962100] Chr3:189894240 [GRCh38]
Chr3:189612029 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.738C>T (p.Asn246=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003088178] Chr3:189864390 [GRCh38]
Chr3:189582179 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1652+17T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV002834681] Chr3:189889501 [GRCh38]
Chr3:189607290 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1126C>T (p.Arg376Cys) single nucleotide variant Inborn genetic diseases [RCV002703150]|TP63-Related Spectrum Disorders [RCV003591995] Chr3:189868713 [GRCh38]
Chr3:189586502 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.915T>A (p.Asn305Lys) single nucleotide variant TP63-Related Spectrum Disorders [RCV003031025] Chr3:189867865 [GRCh38]
Chr3:189585654 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.440C>G (p.Ser147Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003031566] Chr3:189808387 [GRCh38]
Chr3:189526176 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.918C>T (p.Phe306=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003063477] Chr3:189867868 [GRCh38]
Chr3:189585657 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.552G>T (p.Ser184=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002806545] Chr3:189808499 [GRCh38]
Chr3:189526288 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1596A>G (p.Pro532=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003060659] Chr3:189889428 [GRCh38]
Chr3:189607217 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.379G>A (p.Gly127Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002922909] Chr3:189808326 [GRCh38]
Chr3:189526115 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.406A>G (p.Thr136Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV002627945] Chr3:189808353 [GRCh38]
Chr3:189526142 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.882+16C>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002601417] Chr3:189866813 [GRCh38]
Chr3:189584602 [GRCh37]
Chr3:3q28		 benign
NM_003722.5(TP63):c.1869C>T (p.Ala623=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002629962] Chr3:189894328 [GRCh38]
Chr3:189612117 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.767-17del deletion TP63-Related Spectrum Disorders [RCV002578654] Chr3:189866664 [GRCh38]
Chr3:189584453 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1903G>A (p.Gly635Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002602328] Chr3:189894362 [GRCh38]
Chr3:189612151 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1964G>A (p.Arg655Gln) single nucleotide variant TP63-Related Spectrum Disorders [RCV002721062] Chr3:189894423 [GRCh38]
Chr3:189612212 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1328A>C (p.His443Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV002635944] Chr3:189872974 [GRCh38]
Chr3:189590763 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1130-18G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV002722043] Chr3:189869306 [GRCh38]
Chr3:189587095 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1130-6C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV002604069] Chr3:189869318 [GRCh38]
Chr3:189587107 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1970A>G (p.Glu657Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV003068946] Chr3:189894429 [GRCh38]
Chr3:189612218 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.47A>G (p.Asp16Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV002608340] Chr3:189631562 [GRCh38]
Chr3:189349351 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.674T>C (p.Ile225Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV002634280] Chr3:189864326 [GRCh38]
Chr3:189582115 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1366C>T (p.Pro456Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV002605909] Chr3:189886410 [GRCh38]
Chr3:189604199 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1512C>T (p.Pro504=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002942631] Chr3:189889344 [GRCh38]
Chr3:189607133 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1273C>G (p.Gln425Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV002942855] Chr3:189872919 [GRCh38]
Chr3:189590708 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.378C>T (p.Asn126=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003071223] Chr3:189808325 [GRCh38]
Chr3:189526114 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.67G>A (p.Val23Ile) single nucleotide variant TP63-Related Spectrum Disorders [RCV002585045] Chr3:189737744 [GRCh38]
Chr3:189455533 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1594C>G (p.Pro532Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV002658136] Chr3:189889426 [GRCh38]
Chr3:189607215 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1652+7C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003072655] Chr3:189889491 [GRCh38]
Chr3:189607280 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.679G>A (p.Ala227Thr) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV003314740]|TP63-Related Spectrum Disorders [RCV002634444] Chr3:189864331 [GRCh38]
Chr3:189582120 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_003722.5(TP63):c.1155C>T (p.Ile385=) single nucleotide variant TP63-Related Spectrum Disorders [RCV002588102] Chr3:189869349 [GRCh38]
Chr3:189587138 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.882+8G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003069073] Chr3:189866805 [GRCh38]
Chr3:189584594 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1963C>T (p.Arg655Ter) single nucleotide variant Limb-mammary syndrome [RCV003985878]|not provided [RCV003131755] Chr3:189894422 [GRCh38]
Chr3:189612211 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1703del (p.Gln568fs) deletion Premature ovarian failure 21 [RCV003159548] Chr3:189890839 [GRCh38]
Chr3:189608628 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1853G>A (p.Arg618Gln) single nucleotide variant Inborn genetic diseases [RCV003210727] Chr3:189894312 [GRCh38]
Chr3:189612101 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.899C>T (p.Thr300Met) single nucleotide variant Split hand-foot malformation 4 [RCV003228727] Chr3:189867849 [GRCh38]
Chr3:189585638 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV003141106] Chr3:189867876 [GRCh38]
Chr3:189585665 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1039T>C (p.Cys347Arg) single nucleotide variant not provided [RCV003328042] Chr3:189868626 [GRCh38]
Chr3:189586415 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.2017C>T (p.Gln673Ter) single nucleotide variant Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV003330281] Chr3:189894476 [GRCh38]
Chr3:189612265 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.604T>C (p.Tyr202His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003327327] Chr3:189864256 [GRCh38]
Chr3:189582045 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1315C>A (p.Gln439Lys) single nucleotide variant Inborn genetic diseases [RCV003367795]|TP63-related condition [RCV003410365] Chr3:189872961 [GRCh38]
Chr3:189590750 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1034G>T (p.Cys345Phe) single nucleotide variant TP63-related condition [RCV003418980] Chr3:189868621 [GRCh38]
Chr3:189586410 [GRCh37]
Chr3:3q28		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_003722.5(TP63):c.739C>G (p.His247Asp) single nucleotide variant TP63-related condition [RCV003402493] Chr3:189864391 [GRCh38]
Chr3:189582180 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.589G>C (p.Glu197Gln) single nucleotide variant Auditory neuropathy [RCV003484464] Chr3:189864241 [GRCh38]
Chr3:189582030 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1583C>G (p.Pro528Arg) single nucleotide variant TP63-related condition [RCV003405860] Chr3:189889415 [GRCh38]
Chr3:189607204 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.587C>G (p.Thr196Ser) single nucleotide variant not specified [RCV003479773] Chr3:189864239 [GRCh38]
Chr3:189582028 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.530T>C (p.Phe177Ser) single nucleotide variant TP63-related condition [RCV003402116] Chr3:189808477 [GRCh38]
Chr3:189526266 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.670G>A (p.Val224Ile) single nucleotide variant not provided [RCV003434833] Chr3:189864322 [GRCh38]
Chr3:189582111 [GRCh37]
Chr3:3q28		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_003722.5(TP63):c.361G>A (p.Asp121Asn) single nucleotide variant TP63-related condition [RCV003412131] Chr3:189808308 [GRCh38]
Chr3:189526097 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.580-3C>G single nucleotide variant not provided [RCV003443927] Chr3:189864229 [GRCh38]
Chr3:189582018 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.940G>A (p.Gly314Arg) single nucleotide variant TP63-related condition [RCV003414344] Chr3:189867890 [GRCh38]
Chr3:189585679 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.587C>A (p.Thr196Asn) single nucleotide variant TP63-related condition [RCV003392932] Chr3:189864239 [GRCh38]
Chr3:189582028 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.122C>T (p.Ser41Phe) single nucleotide variant TP63-related condition [RCV003416940] Chr3:189737799 [GRCh38]
Chr3:189455588 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1296T>C (p.Ile432=) single nucleotide variant not provided [RCV003439089] Chr3:189872942 [GRCh38]
Chr3:189590731 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.579G>A (p.Thr193=) single nucleotide variant Ankyloblepharon filiforme adnatum-cleft palate syndrome [RCV003458971] Chr3:189808526 [GRCh38]
Chr3:189526315 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.944G>A (p.Gly315Glu) single nucleotide variant TP63-related condition [RCV003420905] Chr3:189867894 [GRCh38]
Chr3:189585683 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.1473T>C (p.Thr491=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592070] Chr3:189886517 [GRCh38]
Chr3:189604306 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1508-18C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003592162] Chr3:189889322 [GRCh38]
Chr3:189607111 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.883-10T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV003592210] Chr3:189867823 [GRCh38]
Chr3:189585612 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1372T>C (p.Ser458Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592074] Chr3:189886416 [GRCh38]
Chr3:189604205 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1528A>C (p.Met510Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592222] Chr3:189889360 [GRCh38]
Chr3:189607149 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.656C>T (p.Pro219Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592564] Chr3:189864308 [GRCh38]
Chr3:189582097 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1166C>T (p.Ser389Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592565] Chr3:189869360 [GRCh38]
Chr3:189587149 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.608G>A (p.Cys203Tyr) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592107] Chr3:189864260 [GRCh38]
Chr3:189582049 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1294A>G (p.Ile432Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003881365] Chr3:189872940 [GRCh38]
Chr3:189590729 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1558A>C (p.Ser520Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591385] Chr3:189889390 [GRCh38]
Chr3:189607179 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.818C>T (p.Ala273Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591396] Chr3:189866733 [GRCh38]
Chr3:189584522 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1971G>A (p.Glu657=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591470] Chr3:189894430 [GRCh38]
Chr3:189612219 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.766+11T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV003591556] Chr3:189864429 [GRCh38]
Chr3:189582218 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.579+11C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003878975] Chr3:189808537 [GRCh38]
Chr3:189526326 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.2014C>T (p.Gln672Ter) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592674] Chr3:189894473 [GRCh38]
Chr3:189612262 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1843C>T (p.His615Tyr) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592778] Chr3:189894302 [GRCh38]
Chr3:189612091 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1626G>T (p.Pro542=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592962] Chr3:189889458 [GRCh38]
Chr3:189607247 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1851_1852delinsTT (p.Arg618Trp) indel TP63-Related Spectrum Disorders [RCV003593289] Chr3:189894310..189894311 [GRCh38]
Chr3:189612099..189612100 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.194C>T (p.Pro65Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593117] Chr3:189738644 [GRCh38]
Chr3:189456433 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1130-16A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV003817138] Chr3:189869308 [GRCh38]
Chr3:189587097 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.35A>C (p.Gln12Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593193] Chr3:189631550 [GRCh38]
Chr3:189349339 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1388C>T (p.Ser463Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756994] Chr3:189886432 [GRCh38]
Chr3:189604221 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1223G>A (p.Arg408His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756675] Chr3:189872869 [GRCh38]
Chr3:189590658 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1233T>C (p.Tyr411=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756681] Chr3:189872879 [GRCh38]
Chr3:189590668 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.489C>T (p.Pro163=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756696] Chr3:189808436 [GRCh38]
Chr3:189526225 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1747-18C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003592952] Chr3:189894188 [GRCh38]
Chr3:189611977 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.996G>A (p.Gly332=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003855080] Chr3:189868583 [GRCh38]
Chr3:189586372 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1450C>A (p.Pro484Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592944] Chr3:189886494 [GRCh38]
Chr3:189604283 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1002C>A (p.Val334=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756719]|TP63-related condition [RCV003909111] Chr3:189868589 [GRCh38]
Chr3:189586378 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1846C>T (p.Leu616Phe) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756794] Chr3:189894305 [GRCh38]
Chr3:189612094 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.579+16A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV003593088] Chr3:189808542 [GRCh38]
Chr3:189526331 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.248A>T (p.Asp83Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756945] Chr3:189738698 [GRCh38]
Chr3:189456487 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1106A>G (p.Lys369Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV003756762] Chr3:189868693 [GRCh38]
Chr3:189586482 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.624A>G (p.Thr208=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003856402] Chr3:189864276 [GRCh38]
Chr3:189582065 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.874C>G (p.Pro292Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593260] Chr3:189866789 [GRCh38]
Chr3:189584578 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1270A>C (p.Met424Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003811764] Chr3:189872916 [GRCh38]
Chr3:189590705 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.711C>T (p.Val237=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003814635] Chr3:189864363 [GRCh38]
Chr3:189582152 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1581C>A (p.Pro527=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593248] Chr3:189889413 [GRCh38]
Chr3:189607202 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.932G>A (p.Ser311Asn) single nucleotide variant TP63-Related Spectrum Disorders [RCV003593294] Chr3:189867882 [GRCh38]
Chr3:189585671 [GRCh37]
Chr3:3q28		 pathogenic
NM_003722.5(TP63):c.1661C>T (p.Ala554Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592908] Chr3:189890797 [GRCh38]
Chr3:189608586 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.567G>A (p.Ser189=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592960] Chr3:189808514 [GRCh38]
Chr3:189526303 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1557C>T (p.Leu519=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003592976] Chr3:189889389 [GRCh38]
Chr3:189607178 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1201T>C (p.Leu401=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757618] Chr3:189869395 [GRCh38]
Chr3:189587184 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1483A>G (p.Ile495Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758168] Chr3:189886527 [GRCh38]
Chr3:189604316 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1930T>C (p.Phe644Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757393] Chr3:189894389 [GRCh38]
Chr3:189612178 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.72A>T (p.Glu24Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757407] Chr3:189737749 [GRCh38]
Chr3:189455538 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1574T>A (p.Leu525His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757792] Chr3:189889406 [GRCh38]
Chr3:189607195 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1607A>T (p.His536Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757883] Chr3:189889439 [GRCh38]
Chr3:189607228 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.468C>A (p.Phe156Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757592] Chr3:189808415 [GRCh38]
Chr3:189526204 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1122G>A (p.Thr374=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758010] Chr3:189868709 [GRCh38]
Chr3:189586498 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1005G>A (p.Leu335=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757969] Chr3:189868592 [GRCh38]
Chr3:189586381 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.891T>G (p.Thr297=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758034] Chr3:189867841 [GRCh38]
Chr3:189585630 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1767C>A (p.Ile589=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757571] Chr3:189894226 [GRCh38]
Chr3:189612015 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1886G>C (p.Gly629Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757594] Chr3:189894345 [GRCh38]
Chr3:189612134 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1910G>A (p.Arg637His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757435] Chr3:189894369 [GRCh38]
Chr3:189612158 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1900C>T (p.Arg634Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758121] Chr3:189894359 [GRCh38]
Chr3:189612148 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.96A>G (p.Lys32=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757689] Chr3:189737773 [GRCh38]
Chr3:189455562 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.713C>T (p.Thr238Met) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757724] Chr3:189864365 [GRCh38]
Chr3:189582154 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1813C>T (p.Arg605Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757759] Chr3:189894272 [GRCh38]
Chr3:189612061 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1032C>T (p.Ile344=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591243] Chr3:189868619 [GRCh38]
Chr3:189586408 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.992+19A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV003591331] Chr3:189867961 [GRCh38]
Chr3:189585750 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1251C>A (p.Ile417=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757964] Chr3:189872897 [GRCh38]
Chr3:189590686 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1477A>G (p.Thr493Ala) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758124] Chr3:189886521 [GRCh38]
Chr3:189604310 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1168A>G (p.Ile390Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003859350] Chr3:189869362 [GRCh38]
Chr3:189587151 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1602C>T (p.Thr534=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757004] Chr3:189889434 [GRCh38]
Chr3:189607223 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1852C>T (p.Arg618Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757286] Chr3:189894311 [GRCh38]
Chr3:189612100 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1212+4G>C single nucleotide variant TP63-Related Spectrum Disorders [RCV003757376] Chr3:189869410 [GRCh38]
Chr3:189587199 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1491T>C (p.Asp497=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003819706] Chr3:189886535 [GRCh38]
Chr3:189604324 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.276C>T (p.Ser92=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757509] Chr3:189738726 [GRCh38]
Chr3:189456515 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.366G>T (p.Gln122His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757625] Chr3:189808313 [GRCh38]
Chr3:189526102 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1747-10T>G single nucleotide variant TP63-Related Spectrum Disorders [RCV003757943] Chr3:189894196 [GRCh38]
Chr3:189611985 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1369T>C (p.Ser457Pro) single nucleotide variant TP63-Related Spectrum Disorders [RCV003866779] Chr3:189886413 [GRCh38]
Chr3:189604202 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1901G>A (p.Arg634Gln) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591136] Chr3:189894360 [GRCh38]
Chr3:189612149 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.139A>G (p.Asn47Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757900] Chr3:189737816 [GRCh38]
Chr3:189455605 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.434C>A (p.Ala145Glu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003848482] Chr3:189808381 [GRCh38]
Chr3:189526170 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1295T>C (p.Ile432Thr) single nucleotide variant TP63-Related Spectrum Disorders [RCV003591302] Chr3:189872941 [GRCh38]
Chr3:189590730 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1898C>G (p.Thr633Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757122] Chr3:189894357 [GRCh38]
Chr3:189612146 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.465C>T (p.Thr155=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757328] Chr3:189808412 [GRCh38]
Chr3:189526201 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.840C>T (p.Ile280=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757405] Chr3:189866755 [GRCh38]
Chr3:189584544 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1674T>G (p.Cys558Trp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757765] Chr3:189890810 [GRCh38]
Chr3:189608599 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_003722.5(TP63):c.912C>T (p.Tyr304=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757882] Chr3:189867862 [GRCh38]
Chr3:189585651 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.362A>G (p.Asp121Gly) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757890] Chr3:189808309 [GRCh38]
Chr3:189526098 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1986C>T (p.Asn662=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757974] Chr3:189894445 [GRCh38]
Chr3:189612234 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.302C>T (p.Ser101Leu) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758004] Chr3:189738752 [GRCh38]
Chr3:189456541 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.762C>T (p.Asn254=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003758056] Chr3:189864414 [GRCh38]
Chr3:189582203 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.882+18A>G single nucleotide variant TP63-Related Spectrum Disorders [RCV003758145] Chr3:189866815 [GRCh38]
Chr3:189584604 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1689C>T (p.Asp563=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003852963] Chr3:189890825 [GRCh38]
Chr3:189608614 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.63-18C>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003862127] Chr3:189737722 [GRCh38]
Chr3:189455511 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1131G>A (p.Pro377=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757003] Chr3:189869325 [GRCh38]
Chr3:189587114 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1142A>G (p.Asn381Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV003821910] Chr3:189869336 [GRCh38]
Chr3:189587125 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1653-18_1653-5del deletion TP63-Related Spectrum Disorders [RCV003757290] Chr3:189890766..189890779 [GRCh38]
Chr3:189608555..189608568 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1349+15G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003591319] Chr3:189873010 [GRCh38]
Chr3:189590799 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1617C>T (p.Pro539=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757459] Chr3:189889449 [GRCh38]
Chr3:189607238 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1130-8T>C single nucleotide variant TP63-Related Spectrum Disorders [RCV003757513] Chr3:189869316 [GRCh38]
Chr3:189587105 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1653-15C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003757510] Chr3:189890774 [GRCh38]
Chr3:189608563 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1747-16_1747-15insCC insertion TP63-Related Spectrum Disorders [RCV003757561] Chr3:189894190..189894191 [GRCh38]
Chr3:189611979..189611980 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1652+18G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003757645] Chr3:189889502 [GRCh38]
Chr3:189607291 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.888C>T (p.Gly296=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757668] Chr3:189867838 [GRCh38]
Chr3:189585627 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.579+18G>A single nucleotide variant TP63-Related Spectrum Disorders [RCV003757683] Chr3:189808544 [GRCh38]
Chr3:189526333 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1985A>G (p.Asn662Ser) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757800] Chr3:189894444 [GRCh38]
Chr3:189612233 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1717A>G (p.Ile573Val) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757719] Chr3:189890853 [GRCh38]
Chr3:189608642 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.736A>G (p.Asn246Asp) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757781] Chr3:189864388 [GRCh38]
Chr3:189582177 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.119T>G (p.Met40Arg) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757818]|TP63-related condition [RCV003901274] Chr3:189737796 [GRCh38]
Chr3:189455585 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.435G>A (p.Ala145=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757826] Chr3:189808382 [GRCh38]
Chr3:189526171 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.882+17C>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003757942] Chr3:189866814 [GRCh38]
Chr3:189584603 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.459C>T (p.Ser153=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757948] Chr3:189808406 [GRCh38]
Chr3:189526195 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1940G>A (p.Arg647His) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757955] Chr3:189894399 [GRCh38]
Chr3:189612188 [GRCh37]
Chr3:3q28		 uncertain significance
NM_003722.5(TP63):c.1107G>A (p.Lys369=) single nucleotide variant TP63-Related Spectrum Disorders [RCV003757846] Chr3:189868694 [GRCh38]
Chr3:189586483 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.580-17G>T single nucleotide variant TP63-Related Spectrum Disorders [RCV003758130] Chr3:189864215 [GRCh38]
Chr3:189582004 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.1507+8C>T single nucleotide variant TP63-related condition [RCV003902086] Chr3:189886559 [GRCh38]
Chr3:189604348 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.444C>T (p.Pro148=) single nucleotide variant TP63-related condition [RCV003959191] Chr3:189808391 [GRCh38]
Chr3:189526180 [GRCh37]
Chr3:3q28		 likely benign
NM_003722.5(TP63):c.114C>T (p.Ser38=) single nucleotide variant TP63-related condition [RCV003901905] Chr3:189737791 [GRCh38]
Chr3:189455580 [GRCh37]
Chr3:3q28		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR203Ahsa-miR-203aMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18311128
MIR203Ahsa-miR-203aMirtarbaseexternal_infoqRT-PCR//Western blot//Luciferase reporter assayFunctional MTI18483491
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA21299870
MIR203Ahsa-miR-203aOncomiRDBexternal_infoNANA18483491
MIR302Bhsa-miR-302b-5pMirecordsexternal_info{changed}NA19342891
MIR92A2hsa-miR-92a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19608627

Predicted Target Of
Summary Value
Count of predictions:6312
Count of miRNA genes:1178
Interacting mature miRNAs:1479
Transcripts:ENST00000264731, ENST00000320472, ENST00000354600, ENST00000382063, ENST00000392460, ENST00000392461, ENST00000392463, ENST00000418709, ENST00000434928, ENST00000437221, ENST00000440651, ENST00000449992, ENST00000456148, ENST00000460036, ENST00000486398
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D3S2398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,421,027 - 189,421,299UniSTSGRCh37
Build 363190,903,721 - 190,903,993RGDNCBI36
Celera3187,848,168 - 187,848,456RGD
Cytogenetic Map3q28UniSTS
Cytogenetic Map3q27UniSTS
HuRef3186,817,832 - 186,818,124UniSTS
Marshfield Genetic Map3209.41UniSTS
Marshfield Genetic Map3209.41RGD
deCODE Assembly Map3203.31UniSTS
Stanford-G3 RH Map38312.0UniSTS
Whitehead-RH Map3860.6UniSTS
NCBI RH Map31910.2UniSTS
G33179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,605,449 - 189,605,634UniSTSGRCh37
Build 363191,088,143 - 191,088,328RGDNCBI36
Celera3188,032,991 - 188,033,176RGD
Cytogenetic Map3q28UniSTS
HuRef3187,003,267 - 187,003,452UniSTS
D3S3422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,408,175 - 189,408,427UniSTSGRCh37
Build 363190,890,869 - 190,891,121RGDNCBI36
Celera3187,835,313 - 187,835,565RGD
Cytogenetic Map3q28UniSTS
HuRef3186,804,986 - 186,805,238UniSTS
Whitehead-YAC Contig Map3 UniSTS
G59523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,361,589 - 189,361,787UniSTSGRCh37
Build 363190,844,283 - 190,844,481RGDNCBI36
Celera3187,796,189 - 187,796,387RGD
Cytogenetic Map3q28UniSTS
HuRef3186,765,267 - 186,765,465UniSTS
TNG Radiation Hybrid Map3104252.0UniSTS
SHGC-105974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,357,390 - 189,357,735UniSTSGRCh37
Build 363190,840,084 - 190,840,429RGDNCBI36
Celera3187,791,976 - 187,792,321RGD
Cytogenetic Map3q28UniSTS
HuRef3186,761,056 - 186,761,401UniSTS
TNG Radiation Hybrid Map3104252.0UniSTS
SHGC-146972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,428,739 - 189,429,049UniSTSGRCh37
Build 363190,911,433 - 190,911,743RGDNCBI36
Celera3187,855,896 - 187,856,206RGD
Cytogenetic Map3q28UniSTS
HuRef3186,825,564 - 186,825,874UniSTS
TNG Radiation Hybrid Map3104272.0UniSTS
PMC25851P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,582,119 - 189,582,201UniSTSGRCh37
Build 363191,064,813 - 191,064,895RGDNCBI36
Celera3188,009,661 - 188,009,743RGD
Cytogenetic Map3q28UniSTS
HuRef3186,979,920 - 186,980,002UniSTS
PMC25851P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,585,620 - 189,585,704UniSTSGRCh37
Build 363191,068,314 - 191,068,398RGDNCBI36
Celera3188,013,162 - 188,013,246RGD
Cytogenetic Map3q28UniSTS
HuRef3186,983,420 - 186,983,504UniSTS
WI-11062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,614,786 - 189,614,981UniSTSGRCh37
Build 363191,097,480 - 191,097,675RGDNCBI36
Celera3188,042,328 - 188,042,523RGD
Cytogenetic Map3q28UniSTS
HuRef3187,012,605 - 187,012,800UniSTS
GeneMap99-GB4 RH Map3709.91UniSTS
Whitehead-RH Map3861.7UniSTS
NCBI RH Map31910.2UniSTS
D3S2481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373189,361,574 - 189,361,787UniSTSGRCh37
Build 363190,844,268 - 190,844,481RGDNCBI36
Celera3187,796,174 - 187,796,387RGD
Cytogenetic Map3q28UniSTS
HuRef3186,765,252 - 186,765,465UniSTS
Whitehead-YAC Contig Map3 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 8 2 7 116 117 1830 522 7 39 344 82 123 3 1216 1
Low 297 592 372 83 533 40 1536 410 787 53 650 693 50 242 1293 3
Below cutoff 2057 2345 1278 367 1176 367 830 1250 2871 264 423 788 1 1 959 279

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB016072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB016073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB042841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC063939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH013180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ315499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB241431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ202689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ202690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB741146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP881229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP881230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP881231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264731   ⟹   ENSP00000264731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,389 - 189,897,276 (+)Ensembl
RefSeq Acc Id: ENST00000320472   ⟹   ENSP00000317510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,488 - 189,894,702 (+)Ensembl
RefSeq Acc Id: ENST00000354600   ⟹   ENSP00000346614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,659 - 189,897,276 (+)Ensembl
RefSeq Acc Id: ENST00000392460   ⟹   ENSP00000376253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,516 - 189,894,221 (+)Ensembl
RefSeq Acc Id: ENST00000392461   ⟹   ENSP00000376254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,801 - 189,894,231 (+)Ensembl
RefSeq Acc Id: ENST00000392463   ⟹   ENSP00000376256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,801 - 189,894,221 (+)Ensembl
RefSeq Acc Id: ENST00000418709   ⟹   ENSP00000407144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,488 - 189,881,496 (+)Ensembl
RefSeq Acc Id: ENST00000434928   ⟹   ENSP00000401661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,675 - 189,864,268 (+)Ensembl
RefSeq Acc Id: ENST00000437221   ⟹   ENSP00000392488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,801 - 189,881,496 (+)Ensembl
RefSeq Acc Id: ENST00000440651   ⟹   ENSP00000394337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,516 - 189,894,502 (+)Ensembl
RefSeq Acc Id: ENST00000449992   ⟹   ENSP00000387839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,801 - 189,894,502 (+)Ensembl
RefSeq Acc Id: ENST00000456148   ⟹   ENSP00000389485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,801 - 189,894,502 (+)Ensembl
RefSeq Acc Id: ENST00000460036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,789,695 - 189,873,575 (+)Ensembl
RefSeq Acc Id: ENST00000486398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3189,631,416 - 189,738,896 (+)Ensembl
RefSeq Acc Id: NM_001114978   ⟹   NP_001108450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,897,276 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,312,090 - 189,577,623 (+)NCBI
T2T-CHM13v2.03192,448,080 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001114979   ⟹   NP_001108451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,881,503 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,312,090 - 189,561,837 (+)NCBI
T2T-CHM13v2.03192,448,080 - 192,697,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001114980   ⟹   NP_001108452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,470,325 - 189,577,623 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001114981   ⟹   NP_001108453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,470,325 - 189,577,623 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001114982   ⟹   NP_001108454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,881,503 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,470,325 - 189,561,837 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,697,938 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329144   ⟹   NP_001316073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,448,080 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329145   ⟹   NP_001316074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329146   ⟹   NP_001316075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329148   ⟹   NP_001316077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,448,080 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329149   ⟹   NP_001316078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329150   ⟹   NP_001316079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,659 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,606,307 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329964   ⟹   NP_001316893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,596,746 - 189,897,276 (+)NCBI
T2T-CHM13v2.03192,413,470 - 192,713,713 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003722   ⟹   NP_003713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,897,276 (+)NCBI
GRCh373189,348,942 - 189,615,068 (+)NCBI
Build 363190,831,910 - 191,097,759 (+)NCBI Archive
HuRef3186,752,882 - 187,012,887 (+)ENTREZGENE
CHM1_13189,312,090 - 189,577,623 (+)NCBI
T2T-CHM13v2.03192,448,080 - 192,713,713 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001108450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001108451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001108452 (Get FASTA)   NCBI Sequence Viewer  
  NP_001108453 (Get FASTA)   NCBI Sequence Viewer  
  NP_001108454 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316078 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316079 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316893 (Get FASTA)   NCBI Sequence Viewer  
  NP_003713 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC43038 (Get FASTA)   NCBI Sequence Viewer  
  AAC62633 (Get FASTA)   NCBI Sequence Viewer  
  AAC62634 (Get FASTA)   NCBI Sequence Viewer  
  AAC62635 (Get FASTA)   NCBI Sequence Viewer  
  AAC62636 (Get FASTA)   NCBI Sequence Viewer  
  AAC62637 (Get FASTA)   NCBI Sequence Viewer  
  AAC62638 (Get FASTA)   NCBI Sequence Viewer  
  AAF43486 (Get FASTA)   NCBI Sequence Viewer  
  AAF43487 (Get FASTA)   NCBI Sequence Viewer  
  AAF43488 (Get FASTA)   NCBI Sequence Viewer  
  AAF43489 (Get FASTA)   NCBI Sequence Viewer  
  AAF43490 (Get FASTA)   NCBI Sequence Viewer  
  AAF43491 (Get FASTA)   NCBI Sequence Viewer  
  AAF43492 (Get FASTA)   NCBI Sequence Viewer  
  AAF43493 (Get FASTA)   NCBI Sequence Viewer  
  AAF61624 (Get FASTA)   NCBI Sequence Viewer  
  AAG45607 (Get FASTA)   NCBI Sequence Viewer  
  AAG45608 (Get FASTA)   NCBI Sequence Viewer  
  AAG45609 (Get FASTA)   NCBI Sequence Viewer  
  AAG45610 (Get FASTA)   NCBI Sequence Viewer  
  AAG45611 (Get FASTA)   NCBI Sequence Viewer  
  AAG45612 (Get FASTA)   NCBI Sequence Viewer  
  AAH39815 (Get FASTA)   NCBI Sequence Viewer  
  AAQ63449 (Get FASTA)   NCBI Sequence Viewer  
  ACV53609 (Get FASTA)   NCBI Sequence Viewer  
  ACV53610 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33893 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33894 (Get FASTA)   NCBI Sequence Viewer  
  AMC39811 (Get FASTA)   NCBI Sequence Viewer  
  AMC39812 (Get FASTA)   NCBI Sequence Viewer  
  AMC39813 (Get FASTA)   NCBI Sequence Viewer  
  BAA32433 (Get FASTA)   NCBI Sequence Viewer  
  BAA32592 (Get FASTA)   NCBI Sequence Viewer  
  BAA32593 (Get FASTA)   NCBI Sequence Viewer  
  BAB20591 (Get FASTA)   NCBI Sequence Viewer  
  BAH14112 (Get FASTA)   NCBI Sequence Viewer  
  CAA76562 (Get FASTA)   NCBI Sequence Viewer  
  CAC48053 (Get FASTA)   NCBI Sequence Viewer  
  CDI30201 (Get FASTA)   NCBI Sequence Viewer  
  EAW78112 (Get FASTA)   NCBI Sequence Viewer  
  EAW78113 (Get FASTA)   NCBI Sequence Viewer  
  EAW78114 (Get FASTA)   NCBI Sequence Viewer  
  EAW78115 (Get FASTA)   NCBI Sequence Viewer  
  EAW78116 (Get FASTA)   NCBI Sequence Viewer  
  EAW78117 (Get FASTA)   NCBI Sequence Viewer  
  EAW78118 (Get FASTA)   NCBI Sequence Viewer  
  EAW78119 (Get FASTA)   NCBI Sequence Viewer  
  EAW78120 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264731
  ENSP00000264731.3
  ENSP00000317510
  ENSP00000317510.5
  ENSP00000346614
  ENSP00000346614.5
  ENSP00000376253
  ENSP00000376253.3
  ENSP00000376254
  ENSP00000376254.3
  ENSP00000376256
  ENSP00000376256.2
  ENSP00000387839
  ENSP00000387839.1
  ENSP00000389485.1
  ENSP00000392488
  ENSP00000392488.1
  ENSP00000394337
  ENSP00000394337.2
  ENSP00000401661.1
  ENSP00000407144
  ENSP00000407144.2
GenBank Protein Q9H3D4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003713   ⟸   NM_003722
- Peptide Label: isoform 1
- UniProtKB: Q9UP28 (UniProtKB/Swiss-Prot),   Q9UP27 (UniProtKB/Swiss-Prot),   Q9UP26 (UniProtKB/Swiss-Prot),   Q9UE10 (UniProtKB/Swiss-Prot),   Q9UBV9 (UniProtKB/Swiss-Prot),   Q9P1B7 (UniProtKB/Swiss-Prot),   Q9P1B6 (UniProtKB/Swiss-Prot),   Q9P1B5 (UniProtKB/Swiss-Prot),   Q9P1B4 (UniProtKB/Swiss-Prot),   Q9NPH7 (UniProtKB/Swiss-Prot),   Q9H3P8 (UniProtKB/Swiss-Prot),   Q9H3D3 (UniProtKB/Swiss-Prot),   Q9H3D2 (UniProtKB/Swiss-Prot),   Q96KR0 (UniProtKB/Swiss-Prot),   Q7LDI5 (UniProtKB/Swiss-Prot),   Q7LDI4 (UniProtKB/Swiss-Prot),   Q7LDI3 (UniProtKB/Swiss-Prot),   Q6VH20 (UniProtKB/Swiss-Prot),   Q6VFJ3 (UniProtKB/Swiss-Prot),   Q6VFJ2 (UniProtKB/Swiss-Prot),   Q6VFJ1 (UniProtKB/Swiss-Prot),   Q6VEG4 (UniProtKB/Swiss-Prot),   Q6VEG3 (UniProtKB/Swiss-Prot),   Q6VEG2 (UniProtKB/Swiss-Prot),   O76078 (UniProtKB/Swiss-Prot),   O75922 (UniProtKB/Swiss-Prot),   O75195 (UniProtKB/Swiss-Prot),   O75080 (UniProtKB/Swiss-Prot),   Q9UP74 (UniProtKB/Swiss-Prot),   Q9H3D4 (UniProtKB/Swiss-Prot),   A0A0S2Z4N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001108450   ⟸   NM_001114978
- Peptide Label: isoform 2
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108451   ⟸   NM_001114979
- Peptide Label: isoform 3
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108452   ⟸   NM_001114980
- Peptide Label: isoform 4
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108453   ⟸   NM_001114981
- Peptide Label: isoform 5
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108454   ⟸   NM_001114982
- Peptide Label: isoform 6
- UniProtKB: C9D7C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316893   ⟸   NM_001329964
- Peptide Label: isoform 13
- Sequence:
RefSeq Acc Id: NP_001316073   ⟸   NM_001329144
- Peptide Label: isoform 7
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot),   C9D7D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316077   ⟸   NM_001329148
- Peptide Label: isoform 10
- UniProtKB: A0A0S2Z4N6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316074   ⟸   NM_001329145
- Peptide Label: isoform 8
- UniProtKB: C9D7D0 (UniProtKB/TrEMBL),   C9D7C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316078   ⟸   NM_001329149
- Peptide Label: isoform 11
- UniProtKB: A0A141PNN3 (UniProtKB/TrEMBL),   C9D7C9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316075   ⟸   NM_001329146
- Peptide Label: isoform 9
- UniProtKB: Q9H3D4 (UniProtKB/Swiss-Prot),   B7Z8X6 (UniProtKB/TrEMBL),   C9D7D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316079   ⟸   NM_001329150
- Peptide Label: isoform 12
- UniProtKB: A0A141PNN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000317510   ⟸   ENST00000320472
RefSeq Acc Id: ENSP00000394337   ⟸   ENST00000440651
RefSeq Acc Id: ENSP00000389485   ⟸   ENST00000456148
RefSeq Acc Id: ENSP00000407144   ⟸   ENST00000418709
RefSeq Acc Id: ENSP00000376254   ⟸   ENST00000392461
RefSeq Acc Id: ENSP00000376253   ⟸   ENST00000392460
RefSeq Acc Id: ENSP00000376256   ⟸   ENST00000392463
RefSeq Acc Id: ENSP00000346614   ⟸   ENST00000354600
RefSeq Acc Id: ENSP00000401661   ⟸   ENST00000434928
RefSeq Acc Id: ENSP00000264731   ⟸   ENST00000264731
RefSeq Acc Id: ENSP00000387839   ⟸   ENST00000449992
RefSeq Acc Id: ENSP00000392488   ⟸   ENST00000437221
Protein Domains
p53 DNA-binding   p53 tetramerisation   SAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H3D4-F1-model_v2 AlphaFold Q9H3D4 1-680 view protein structure

Promoters
RGD ID:6866586
Promoter ID:EPDNEW_H6458
Type:single initiation site
Name:TP63_3
Description:tumor protein p63
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6459  EPDNEW_H6460  EPDNEW_H6461  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,596,746 - 189,596,806EPDNEW
RGD ID:6866588
Promoter ID:EPDNEW_H6459
Type:initiation region
Name:TP63_4
Description:tumor protein p63
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6458  EPDNEW_H6460  EPDNEW_H6461  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,192 - 189,631,252EPDNEW
RGD ID:6866590
Promoter ID:EPDNEW_H6460
Type:initiation region
Name:TP63_2
Description:tumor protein p63
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6458  EPDNEW_H6459  EPDNEW_H6461  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,631,389 - 189,631,449EPDNEW
RGD ID:6866592
Promoter ID:EPDNEW_H6461
Type:multiple initiation site
Name:TP63_1
Description:tumor protein p63
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6458  EPDNEW_H6459  EPDNEW_H6460  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383189,789,660 - 189,789,720EPDNEW
RGD ID:6800903
Promoter ID:HG_KWN:47196
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000382063,   ENST00000392463,   NM_001114978,   NM_003722,   OTTHUMT00000343866,   OTTHUMT00000343870,   OTTHUMT00000343872,   UC010HZC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363190,830,921 - 190,831,787 (+)MPROMDB
RGD ID:6801818
Promoter ID:HG_KWN:47199
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003FSE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363191,008,576 - 191,009,076 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15979 AgrOrtholog
COSMIC TP63 COSMIC
Ensembl Genes ENSG00000073282 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264731 ENTREZGENE
  ENST00000264731.8 UniProtKB/Swiss-Prot
  ENST00000320472 ENTREZGENE
  ENST00000320472.9 UniProtKB/Swiss-Prot
  ENST00000354600 ENTREZGENE
  ENST00000354600.10 UniProtKB/Swiss-Prot
  ENST00000392460 ENTREZGENE
  ENST00000392460.7 UniProtKB/Swiss-Prot
  ENST00000392461 ENTREZGENE
  ENST00000392461.7 UniProtKB/Swiss-Prot
  ENST00000392463 ENTREZGENE
  ENST00000392463.6 UniProtKB/Swiss-Prot
  ENST00000418709 ENTREZGENE
  ENST00000418709.6 UniProtKB/Swiss-Prot
  ENST00000434928.5 UniProtKB/TrEMBL
  ENST00000437221 ENTREZGENE
  ENST00000437221.5 UniProtKB/Swiss-Prot
  ENST00000440651 ENTREZGENE
  ENST00000440651.6 UniProtKB/Swiss-Prot
  ENST00000449992 ENTREZGENE
  ENST00000449992.5 UniProtKB/Swiss-Prot
  ENST00000456148.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073282 GTEx
HGNC ID HGNC:15979 ENTREZGENE
Human Proteome Map TP63 Human Proteome Map
InterPro p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53/RUNT-type_TF_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53_tetramer_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53_tetrameristn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53_tumour_suppressor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumor-p63_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8626 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8626 ENTREZGENE
OMIM 603273 OMIM
PANTHER PTHR11447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11447:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P53 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P53_tetramer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162406776 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
  P53SUPPRESSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P53 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4N5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4N6 ENTREZGENE, UniProtKB/TrEMBL
  A0A141PNN3 ENTREZGENE, UniProtKB/TrEMBL
  A0A141PNN4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8X6 ENTREZGENE, UniProtKB/TrEMBL
  C9D7C9 ENTREZGENE, UniProtKB/TrEMBL
  C9D7D0 ENTREZGENE, UniProtKB/TrEMBL
  C9JW72_HUMAN UniProtKB/TrEMBL
  O75080 ENTREZGENE
  O75195 ENTREZGENE
  O75922 ENTREZGENE
  O76078 ENTREZGENE
  P63_HUMAN UniProtKB/Swiss-Prot
  Q6VEG2 ENTREZGENE
  Q6VEG3 ENTREZGENE
  Q6VEG4 ENTREZGENE
  Q6VFJ1 ENTREZGENE
  Q6VFJ2 ENTREZGENE
  Q6VFJ3 ENTREZGENE
  Q6VH20 ENTREZGENE
  Q7LDI3 ENTREZGENE
  Q7LDI4 ENTREZGENE
  Q7LDI5 ENTREZGENE
  Q96KR0 ENTREZGENE
  Q9H3D2 ENTREZGENE
  Q9H3D3 ENTREZGENE
  Q9H3D4 ENTREZGENE
  Q9H3P8 ENTREZGENE
  Q9NPH7 ENTREZGENE
  Q9P1B4 ENTREZGENE
  Q9P1B5 ENTREZGENE
  Q9P1B6 ENTREZGENE
  Q9P1B7 ENTREZGENE
  Q9UBV9 ENTREZGENE
  Q9UE10 ENTREZGENE
  Q9UP26 ENTREZGENE
  Q9UP27 ENTREZGENE
  Q9UP28 ENTREZGENE
  Q9UP74 ENTREZGENE
UniProt Secondary O75080 UniProtKB/Swiss-Prot
  O75195 UniProtKB/Swiss-Prot
  O75922 UniProtKB/Swiss-Prot
  O76078 UniProtKB/Swiss-Prot
  Q6VEG2 UniProtKB/Swiss-Prot
  Q6VEG3 UniProtKB/Swiss-Prot
  Q6VEG4 UniProtKB/Swiss-Prot
  Q6VFJ1 UniProtKB/Swiss-Prot
  Q6VFJ2 UniProtKB/Swiss-Prot
  Q6VFJ3 UniProtKB/Swiss-Prot
  Q6VH20 UniProtKB/Swiss-Prot
  Q7LDI3 UniProtKB/Swiss-Prot
  Q7LDI4 UniProtKB/Swiss-Prot
  Q7LDI5 UniProtKB/Swiss-Prot
  Q96KR0 UniProtKB/Swiss-Prot
  Q9H3D2 UniProtKB/Swiss-Prot
  Q9H3D3 UniProtKB/Swiss-Prot
  Q9H3P8 UniProtKB/Swiss-Prot
  Q9NPH7 UniProtKB/Swiss-Prot
  Q9P1B4 UniProtKB/Swiss-Prot
  Q9P1B5 UniProtKB/Swiss-Prot
  Q9P1B6 UniProtKB/Swiss-Prot
  Q9P1B7 UniProtKB/Swiss-Prot
  Q9UBV9 UniProtKB/Swiss-Prot
  Q9UE10 UniProtKB/Swiss-Prot
  Q9UP26 UniProtKB/Swiss-Prot
  Q9UP27 UniProtKB/Swiss-Prot
  Q9UP28 UniProtKB/Swiss-Prot
  Q9UP74 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TP63  tumor protein p63  TP53CP  tumor protein p53-competing protein  Data merged from RGD:1351465 737654 PROVISIONAL
2016-04-05 TP63  tumor protein p63  TP53L  tumor protein p53-like  Data merged from RGD:1345974 737654 PROVISIONAL