| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TTTATT | 0.700 | CausalMutation | CLINVAR | ||||||
|
TTGCCAGAGTTGTG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TT | 0.700 | CausalMutation | CLINVAR | ||||||
|
TT | 0.700 | GeneticVariation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 |
|||
|
TT | 0.700 | GeneticVariation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |
|||
|
TGTATCCA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TGCAGTGTTGATGCA | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TCCT | 0.700 | CausalMutation | CLINVAR | ||||||
|
TCC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TCA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TC | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. | 30675029 | 2019 |
|||
|
TATGCTGCATTCATC | 0.700 | CausalMutation | CLINVAR | ||||||
|
TAGCACAAACTTCTTCTCATATCTAGAAGGG | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR |