Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.820 | CausalMutation | CLINVAR | Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. | 23497705 | 2013 |
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A | 0.820 | CausalMutation | CLINVAR | Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | 12714972 | 2003 |
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T | 0.790 | CausalMutation | CLINVAR | Altered splicing in prelamin A-associated premature aging phenotypes. | 17076270 | 2006 |
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T | 0.790 | CausalMutation | CLINVAR | Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | 12714972 | 2003 |
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T | 0.790 | CausalMutation | CLINVAR | Lamin a truncation in Hutchinson-Gilford progeria. | 12702809 | 2003 |
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G | 0.720 | CausalMutation | CLINVAR | LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. | 15121795 | 2004 |
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C | 0.710 | CausalMutation | CLINVAR | Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. | 24639906 | 2014 |
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A | 0.710 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.710 | CausalMutation | CLINVAR | Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. | 17469202 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. | 17469202 | 2007 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 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 | CausalMutation | CLINVAR | In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria. | 23804595 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. | 15317753 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. | 12714972 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. | 23659872 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | A new lamin a mutation associated with acrogeria syndrome. | 24687084 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. | 22065502 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. | 22065502 | 2011 |
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR |