Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | MECP2 mutations in males. | 17351020 | 2007 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. | 17267601 | 2007 |
|||
|
CT | 0.700 | CausalMutation | CLINVAR | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | 16169931 | 2006 |
|||
|
CT | 0.700 | CausalMutation | CLINVAR | Early progressive encephalopathy in boys and MECP2 mutations. | 16832102 | 2006 |
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|
CT | 0.700 | CausalMutation | CLINVAR | Male Rett phenotypes in T158M and R294X MeCP2-mutations. | 17236109 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | 16169931 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Early progressive encephalopathy in boys and MECP2 mutations. | 16832102 | 2006 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Male Rett phenotypes in T158M and R294X MeCP2-mutations. | 17236109 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Male Rett phenotypes in T158M and R294X MeCP2-mutations. | 17236109 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Early progressive encephalopathy in boys and MECP2 mutations. | 16832102 | 2006 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. | 16169931 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Early progressive encephalopathy in boys and MECP2 mutations. | 16832102 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Male Rett phenotypes in T158M and R294X MeCP2-mutations. | 17236109 | 2006 |