Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type. 28608987

2017
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314

2016
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228

2016
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 27260292

2016
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339

2016
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia. 26260707

2015
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. 24731568

2014
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692

2013
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162

2012
dbSNP: rs149474131
rs149474131
SPG7
A 0.700 CausalMutation CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690

2012