Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.820 | SusceptibilityMutation | CLINVAR | ||||||||||
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G | 0.800 | CausalMutation | CLINVAR | ||||||||||
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A | 0.800 | CausalMutation | CLINVAR | Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. | 25676417 | 2015 |
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A | 0.800 | CausalMutation | CLINVAR | Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. | 21670465 | 2011 |
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A | 0.800 | CausalMutation | CLINVAR | Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. | 21892162 | 2011 |
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A | 0.800 | CausalMutation | CLINVAR | Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. | 23365458 | 2013 |
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A | 0.800 | CausalMutation | CLINVAR | ||||||||||
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A | 0.800 | CausalMutation | CLINVAR | ||||||||||
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A | 0.720 | GeneticVariation | CLINVAR | Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. | 21765025 | 2011 |
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A | 0.720 | GeneticVariation | CLINVAR | Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. | 22147895 | 2012 |
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GCGGC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GCGGC | 0.700 | CausalMutation | CLINVAR | ||||||||||
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GCGGC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GC | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). | 21892158 | 2011 |
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AGAGG | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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AC | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). | 21892158 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Multiple Opportunistic Infections in a Woman with GATA2 Mutation. | 27894982 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. | 23502222 | 2013 |