| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient. | 21897443 | 2012 |
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0.010 | GeneticVariation | BEFREE | The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient. | 21897443 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome. | 22350371 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | The patient's findings of coloboma and renal dysfunction suggested that she had RCS, and genetic analysis revealed a PAX2 heterozygous mutation in exon 2 (c.76dup, p.Val26Glyfsx27) without any mutations of COL4A3, COL4A4, and COL4A5, which are responsible for autosomal and X-linked Alport syndrome. | 22350371 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | One of the missense mutations (p.G624D) was present not only in one family with ATS but also in five families with suspected BFH. | 17396119 | 2007 |
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0.010 | GeneticVariation | BEFREE | A novel G472R mutation in a Turkish family with X-linked Alport syndrome. | 10872188 | 2000 |
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0.010 | GeneticVariation | BEFREE | Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. | 1376965 | 1992 |
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0.010 | GeneticVariation | BEFREE | Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. | 1376965 | 1992 |