Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | CausalMutation | CLINVAR | Molecular and immunological characterization of DNA ligase IV deficiency. | 26762768 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. | 26151233 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. | 26172957 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Identification of the DNA repair defects in a case of Dubowitz syndrome. | 23372718 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome. | 17345618 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. | 16357942 | 2006 |
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G | 0.700 | CausalMutation | CLINVAR | A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. | 16088910 | 2005 |
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G | 0.700 | CausalMutation | CLINVAR | Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. | 15333585 | 2004 |
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G | 0.700 | CausalMutation | CLINVAR | DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. | 11779494 | 2001 |