Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1156904586
rs1156904586
CT 0.700 CausalMutation CLINVAR A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 28454995

2017

dbSNP: rs1156904586
rs1156904586
CT 0.700 CausalMutation CLINVAR New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy. 27679995

2016

dbSNP: rs1156904586
rs1156904586
CT 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015

dbSNP: rs1156904586
rs1156904586
CT 0.700 CausalMutation CLINVAR Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 22892528

2013

dbSNP: rs1156904586
rs1156904586
CT 0.700 CausalMutation CLINVAR Mutations in a P-type ATPase gene cause axonal degeneration. 22912588

2012