Which inherited conditions your DNA carries a variant for, across the 3,321 conditions on this panel. How many of them a file can reach depends on the chip it was read on; our guides to AncestryDNA and 23andMe files show the difference.
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Create an account and upload your raw DNA file to annotate it against a catalog of 3,321 inherited conditions from ClinVar.
Showing 1-30 of 3,321 conditions
Cystic Fibrosis
ORGANS & SENSES
Also known as: CF, Mucoviscidosis
CFTR
Your status unknown
Thick, sticky mucus builds up in the lungs and digestive organs, causing chronic infections and trouble absorbing food.
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Sickle Cell Disease
HEART & BLOOD
Also known as: SCD, Sickle Cell Anemia, HbSS
HBB
Red blood cells form a rigid crescent shape that blocks blood flow, causing episodes of pain, anemia, and organ damage.
Duchenne Muscular Dystrophy
BONES & SKIN
Also known as: DMD
DMD, UTRN
Muscles progressively weaken and waste away from a missing muscle protein, usually affecting boys and ending walking by the teens.
Tay-Sachs Disease
Also known as: TSD, GM2 Gangliosidosis
GM2A, HEXA
Nerve cells in the brain and spinal cord are progressively destroyed, leading to loss of motor skills, seizures, and vision loss in infancy.
Hemophilia A
Also known as: Factor VIII Deficiency
F8, F9
The blood is missing a key clotting protein, causing prolonged bleeding after injury or surgery and bleeding into joints and muscles.
Amyotrophic Lateral Sclerosis
BRAIN & MIND
Also known as: ALS, Lou Gehrig Disease
ALS2, ANG, ANXA11, CHRNA3 and 21 more
Progressive loss of the nerves controlling muscles causes weakness, wasting, and eventually paralysis and breathing failure.
Spinal Muscular Atrophy
Also known as: SMA
ASCC1, BICD2, DNAJB2, DYNC1H1 and 7 more
Motor nerve cells in the spinal cord progressively deteriorate, causing muscle weakness and wasting that affects movement, breathing, and swallowing.
Familial Parkinson Disease
LRRK2, PLA2G6, PRKN, SNCA
Progressive tremor, stiffness, and slowed movement caused by loss of certain brain cells that control movement.
Marfan Syndrome
Also known as: MFS, FBN1
FBN1
A connective-tissue difference affecting the heart, blood vessels, eyes, and skeleton, often causing a tall, long-limbed build.
Fragile X Syndrome
Also known as: FXS, Martin-Bell Syndrome
FMR1
A common inherited cause of intellectual disability and autism, affecting mainly boys.
Albinism
Also known as: OCA, Oculocutaneous Albinism
GPR143, OCA2, PAX6, SLC45A2 and 2 more
Little or no pigment in the skin, hair, and eyes, causing very pale coloring, vision problems, and sun sensitivity.
Achondroplasia
FBN1, FGFR3
The most common form of short-limbed dwarfism, causing short arms and legs, a larger head, and a prominent forehead.
Beta-Thalassemia
Also known as: Cooley Anemia
HBA2, HBB
The body makes too little of a key oxygen-carrying blood protein, causing moderate to severe anemia that may need regular transfusions.
Polycystic Kidney Disease
Also known as: PKD, ADPKD
ALG5, CYS1, DNAJB11, DZIP1L and 6 more
Fluid-filled cysts grow throughout the kidneys, gradually enlarging them and leading toward kidney failure.
Color Vision Deficiency
Also known as: Color Blindness
CNGA3, DMD, NR2E3, RPGRIP1
Certain colors are hard to tell apart, most often red from green, affecting tasks that rely on color.
Ehlers-Danlos Syndrome
Also known as: EDS
ADAMTS2, AEBP1, B3GALT6, B4GALT7 and 14 more
Overly flexible joints, stretchy skin that bruises and tears easily, and chronic pain from weak connective tissue.
Cleft Lip/Palate
Also known as: CL/P, Orofacial Cleft
CTNND1, PTPN11, SELENON, SYNE1
An opening in the lip and roof of the mouth is present from birth, affecting feeding, speech, and facial appearance.
Angelman Syndrome
Also known as: AS, Happy Puppet Syndrome
CDKL5, GABRG3, MECP2, SNHG14 and 1 more
Severe developmental delay with a happy manner, frequent laughter, seizures, and little or no speech.
Familial Hypercholesterolemia
Also known as: FH
APOB, LDLR, LDLRAP1, PCSK9 and 1 more
Very high cholesterol from birth greatly raises the risk of early heart attacks and strokes.
Lynch Syndrome
Also known as: HNPCC, Hereditary Nonpolyposis Colorectal Cancer
CHEK2, EPCAM, FANCM, MLH1 and 4 more
A strong genetic tendency to develop colon, uterine, and other cancers, often at a younger-than-usual age.
Hypertrophic Cardiomyopathy
Also known as: HCM, HOCM
ACTC1, ACTN2, ALPK3, CSRP3 and 24 more
The heart muscle becomes abnormally thick, making it harder to pump blood and raising the risk of sudden cardiac death.
G6PD Deficiency
Also known as: Glucose-6-Phosphate Dehydrogenase Deficiency, Favism
G6PD
Certain foods, infections, and medications can trigger red blood cells to break down, causing sudden anemia and jaundice.
Osteogenesis Imperfecta
Also known as: OI, Brittle Bone Disease
ALPL, BMP1, CCDC134, COL1A1 and 13 more
Extremely fragile bones that break easily from minor trauma, sometimes with blue-tinted whites of the eyes and hearing loss.
Gaucher Disease
Also known as: GD, Glucocerebrosidase Deficiency
GBA1, PSAP
A fatty substance builds up in the spleen, liver, and bones, causing organ enlargement, anemia, low platelets, and bone pain.
Alpha-Thalassemia
HBA1, HBA2
Reduced production of a component of hemoglobin causes mild to severe anemia depending on how many gene copies are affected.
Hemophilia B
Also known as: Factor IX Deficiency, Christmas Disease
The blood is missing a different clotting protein, causing prolonged bleeding after injury or surgery and bleeding into joints, mainly in boys.
Von Willebrand Disease
Also known as: VWD
VWF
The blood does not clot properly because of a missing or faulty clotting protein, causing easy bruising and prolonged bleeding.
Rett Syndrome
CDKL5, FOXG1, MECP2
After a period of normal early development, girls gradually lose purposeful hand use, speech, and coordination.
Long QT Syndrome
Also known as: LQTS
ANK2, C17orf107, CACNA1C, CALM1 and 11 more
The heart's electrical recharge is delayed, causing a rhythm disturbance that can trigger fainting or sudden cardiac arrest.
Hereditary Hemochromatosis
Also known as: HFE Hemochromatosis, Iron Overload
HAMP, HFE, HJV, SLC40A1 and 1 more
The body absorbs too much iron from food, and over time the excess iron damages the liver, heart, and pancreas.
Medical Disclaimer: This tool provides an educational annotation of your uploaded DNA against ClinVar - it is not a diagnosis, a carrier test, or medical advice, and does not tell you whether you are or are not a carrier. A genotyping chip reads only a subset of each gene's known variants, so a "not detected" result cannot rule out variants it doesn't cover, and any match should be confirmed with a clinical-grade test. Do not make reproductive or family-planning decisions (such as whether to conceive, use IVF or PGT, or undergo prenatal testing) based on this report: a "not detected" result does not replace clinical carrier screening, and if you are planning a pregnancy you should seek clinical carrier screening and genetic counseling regardless of what this tool shows. Consult a clinician or genetic counselor for personalized interpretation - you can find one through the free NSGC directory. Data sourced from ClinVar (NCBI).
Data sourced from ClinVar (NCBI). For informational purposes only.
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