Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. A pathogenic variant may also be called a mutation or a disease-causing variant. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A benign variant does not cause health problems or disease because the change does not affect how the gene works. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus)Ī genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. ![]() Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus) Genes are part of our DNA, the basic genetic material found in each of our body's cells. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. ![]() Genes are part of our DNA, the basic genetic material found in each of our body's cells. ![]() Abnormal cardiac septum morphology Abnormal pulmonary vein morphology Abnormality of the pulmonary artery Abnormality of vision Anal atresia Anterior chamber synechiae Anterior hypopituitarism Anteverted nares Aplasia/Hypoplasia of the corpus callosum Bicuspid pulmonary valve Brachycephaly Brachydactyly Cataract Cerebral cortical atrophy Cleft palate Cleft upper lip Clinodactyly of the 5th finger Clitoral hypoplasia Conductive hearing impairment Congenital hypothyroidism Corneal opacity Cryptorchidism Decreased fetal movement Depressed nasal bridge Disproportionate short-limb short stature Exaggerated cupid's bow Feeding difficulties in infancy Frontal bossing Glaucoma Global developmental delay Hydrocephalus Hydronephrosis Hypertelorism Hypoplasia of the uterus Hypoplastic left heart Hypospadias Inguinal hernia Intellectual disability Intestinal fistula Intrauterine growth retardation Iris coloboma Long face Long philtrum Low-set, posteriorly rotated ears Microcephaly Microcornea Micrognathia Micromelia Microtia, second degree Multicystic kidney dysplasia Nystagmus Optic atrophy Patent ductus arteriosus Peters anomaly Polyhydramnios Postnatal growth retardation Preauricular pit Preauricular skin tag Prominent forehead Pulmonic stenosis Renal duplication Renal hypoplasia/aplasia Rhizomelia Round face Sacral dimple Short columella Short foot Short neck Short nose Short palpebral fissure Short stature Short toe Spina bifida occulta Thin upper lip vermilion Toe syndactyly Umbilical hernia Upslanted palpebral fissure Ureteral duplication Ventriculomegaly Visual impairment Webbed neck Wide intermamillary distance Wide mouth Widely spaced teeth
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