Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR High-throughput genetic characterization of a cohort of Brugada syndrome patients. 26220970

2015
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 23394911

2013
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 23065703

2013
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Childhood presentation of COL4A1 mutations. 22574627

2012
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. 21625620

2011
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 19949034

2009
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877

2009
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR COL4A1 mutation in preterm intraventricular hemorrhage. 19840616

2009
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367

2007
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175

2007
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688

2007
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045

2006
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 16374828

2006
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 16107487

2006
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 15905400

2005
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. 15882279

2005
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. 12525718

2003
dbSNP: rs1555302735
rs1555302735
COL4A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR Familial porencephalic white matter disease in two generations. 6428250

1984