180
total findings
Familial Hypercholesterolemia
Cystic Fibrosis
Cystic Fibrosis carrier
cystic fibrosis carrier
Phenylketonuria
Von Hippel-Lindau syndrome mutation
Cystic fibrosis allele (carrier)
Niemann-Pick Disease Type A
Familial dysautonomia
Carrier of a cystic fibrosis allele
Carrier for a cystic fibrosis allele
carrier of a cystic fibrosis allele
risk factor for Von Willebrand disease type 1
Rhizomelic Chondrodysplasia Punctata Type 1
Alzheimer's disease, early-onset, as reported
TTR-related familial amyloid polyneuropathy
Von Willebrand disease type 1
Maple Syrup Urine disease
Parkinson's disease, type 6, early-onset
cystic fibrosis
unaffected carrier of cystic fibrosis allele
familial hypercholesterolemia
6.7x increased risk of venous thromboembolism
Hemochromatosis carrier
malignant hyperthermia
increased colon cancer risk? significance is unclear
Double homozygote for cystic fibrosis G551D allele
carrier of cystic fibrosis allele
Cystic Fibrosis; possibly a mild form (see discussion)
red hair possible, higher risk of melanoma
TTR-related cardiac amyloidosis
Familial restrictive cardiomyopathy, type 1
Familial Hypertrophic Cardiomyopathy
phenylketonuria carrier
G6PD deficiency
carrier for G542X cystic fibrosis mutation
cystic fibrosis carrier?
BRCA1 (breast cancer) 185delAG carrier
BRCA1 variant considered pathogenic for breast cancer
Phenyketonuria
Hereditary hemorrhagic telangiectasia, type 5
TTR-related Familial Amyloid Polyneuropathy
susceptibility to malignant hyperthermia
Von Willebrand disease, type 1
Sickle Cell Anemia
a treatable form of cystic fibrosis
Familial Hypercholesterolemia Type B
carrier for Gaucher's disease; increased risk for Parkinsons
Maple Syrup Urine Disease Type 1B
Possible cystic fibrosis allele carrier, but of low penetrance
Carrier of a cystic fibrosis allele - perhaps
Fanconi Anemia (FANCC-related)
Phenylketonuria not provided
Familial Mediterranean fever not provided
Cystic fibrosis Hereditary pancreatitis
Autosomal recessive polycystic kidney disease
not provided Phenylketonuria
Cystic fibrosis
Fanconi anemia, complementation group C not provided Fanconi anemia
Tay-Sachs disease not provided
Familial hypercholesterolemia
Familial hypercholesterolemia not provided
Long QT syndrome Congenital long QT syndrome Long QT syndrome 1, recessive not provided Cardiovascular phenotype
von Willebrand disease, type 1, susceptibility to not provided not specified
normal allele
ataluren response - Efficacy Cystic fibrosis not provided Hereditary pancreatitis
Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Familial Mediterranean fever
Maple syrup urine disease not provided
Usher syndrome, type 3A Retinitis pigmentosa-deafness syndrome Retinitis Pigmentosa, Dominant not provided
Cerebellar ataxia, cataract, and diabetes mellitus Retinitis pigmentosa-deafness syndrome
Hemochromatosis type 1 Hereditary hemochromatosis
Cystic fibrosis not provided
Hereditary factor XI deficiency disease not provided
Myopathy, mitochondrial, with diabetes mellitus Diabetes-deafness syndrome maternally transmitted
Leber's optic atrophy Leigh syndrome not provided
Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Pendred's syndrome Enlarged vestibular aqueduct syndrome
Central core disease Malignant hyperthermia, susceptibility to, 1 not provided
Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Hyperphenylalaninemia, non-pku Phenylketonuria not provided
resistant to HIV
Common (in Ancestry reports); no need to worry
Gaucher's disease, type 1 Gaucher disease not provided
Beta-hexosaminidase a, pseudodeficiency of not specified not provided
Hyperphenylalaninemia, non-pku not provided
Malignant hyperthermia, susceptibility to, 1 not provided
Severe congenital neutropenia autosomal dominant not provided
Cystic fibrosis not provided Hereditary pancreatitis
Hereditary factor XI deficiency disease
Subacute neuronopathic Gaucher's disease Gaucher's disease, type 1 Gaucher disease
not provided Niemann-Pick disease, type B Niemann-Pick disease, type A Sphingomyelin/cholesterol lipidosis
Tay-Sachs disease Gm2-gangliosidosis, adult not provided
HEMOGLOBIN TURRIFF
Friedreich's ataxia
Central core disease not provided
Glycogen storage disease type 1A Glycogen storage disease, type I not provided
For educational and research purposes only. Results can include false positives;
consult a qualified healthcare professional before acting on any finding.