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Results 1 - 10 of 15 for Variant of unknown significance
  1. What are secondary findings from genetic testing?: MedlinePlus Genetics 
    ... that are reported are known to cause disease. Variants of unknown significance , whose involvement in disease at the current time ...
    https://medlineplus.gov/.../understanding/testing/secondaryfindings - Genetics
  2. What are whole exome sequencing and whole genome sequencing?: MedlinePlus Genetics 
    ... genome sequencing than with select gene sequencing, the significance of much of this information is unknown. Because not all genetic changes affect health , it is difficult to know whether identified variants are involved in the condition of interest. Sometimes, ...
    https://medlineplus.gov/genetics/understanding/testing/sequencing - Genetics
  3. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Newborn Screening/Reference Desk ... Newborn Screening ... Genetic Testing/Reference Desk ... Genetic Testing ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  4. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Counseling/Reference Desk ... Genetic Counseling
    https://www.genome.gov/genetics-glossary - External Health Links
  5. CATSPER1-related nonsyndromic male infertility 
    ... prevalence of CATSPER1-related nonsyndromic male infertility is unknown. Variants (also called mutations) in the CATSPER1 gene cause ...
    https://medlineplus.gov/...er1-related-nonsyndromic-male-infertility - Genetics
  6. Epilepsy and Seizures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Start Here ... Epilepsy ... Seizures/Start Here ... Seizures ... National Institute of Neurological Disorders and Stroke ... Epilepsy is a chronic brain disorder in which ...
    https://www.ninds.nih.gov/.../disorders/epilepsy-and-seizures - External Health Links
  7. Congenital dyserythropoietic anemia 
    ... type I, the cause of the condition is unknown. CDA type II is caused by variants in the SEC23B gene. This gene provides instructions ...
    https://medlineplus.gov/.../congenital-dyserythropoietic-anemia - Genetics
  8. RNF213 gene 
    ... Nickerson DA, Pannu H, Milewicz DM. RNF213 rare variants in an ethnically ... Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene. J Stroke. ...
    https://medlineplus.gov/genetics/gene/rnf213 - Genetics
  9. Moyamoya disease 
    ... Nickerson DA, Pannu H, Milewicz DM. RNF213 rare variants in an ethnically ... Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene. J Stroke. ...
    https://medlineplus.gov/genetics/condition/moyamoya-disease - Genetics
  10. Freeman-Sheldon syndrome 
    ... these individuals, the cause of the disorder is unknown. ... in each cell is sufficient to cause the disorder. Most cases result from new variants in the gene and occur with no history ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
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