Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371295780
rs371295780
VRK1
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs772731615
rs772731615
VRK1
T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs137853063
rs137853063
VRK1
T 0.700 CausalMutation CLINVAR Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. 24126608

2013
dbSNP: rs773138218
rs773138218
VRK1
A 0.700 GeneticVariation CLINVAR Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. 24126608

2013
dbSNP: rs1064794609
rs1064794609
CHMP1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs1566713184
rs1566713184
VRK1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566713184
rs1566713184
VRK1
T 0.700 CausalMutation CLINVAR

dbSNP: rs771364038
rs771364038
VRK1
A 0.700 CausalMutation CLINVAR

dbSNP: rs772263867
rs772263867
VRK1
T 0.700 CausalMutation CLINVAR

dbSNP: rs773138218
rs773138218
VRK1
A 0.700 CausalMutation CLINVAR

dbSNP: rs779282547
rs779282547
VRK1
A 0.700 CausalMutation CLINVAR

dbSNP: rs780789145
rs780789145
VRK1
C 0.700 CausalMutation CLINVAR

dbSNP: rs141138948
rs141138948
EXOSC3
0.030 GeneticVariation BEFREE Signs of antenatal onset of disease present at birth were common in all PCH1 sub-types except in the homozygous p.D132A/EXOSC3 patients. 29656927

2018
dbSNP: rs141138948
rs141138948
EXOSC3
0.030 GeneticVariation BEFREE Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. 23975261

2013
dbSNP: rs141138948
rs141138948
EXOSC3
0.030 GeneticVariation BEFREE We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype". 23564332

2013
dbSNP: rs387907196
rs387907196
EXOSC3
0.020 GeneticVariation BEFREE The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases. 29656927

2018
dbSNP: rs387907196
rs387907196
EXOSC3
0.020 GeneticVariation BEFREE It may therefore be concluded that EXOSC3 c.92G→C, p.G31A mutation is a founder mutation with high prevalence among the Czech Roma causing a similar and particularly severe phenotype of PCH1. 23883322

2013
dbSNP: rs1266703941
rs1266703941
EXOSC8
0.010 GeneticVariation BEFREE The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases. 29656927

2018
dbSNP: rs868010710
rs868010710
VRK1
0.010 GeneticVariation BEFREE The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases. 29656927

2018
dbSNP: rs374550999
rs374550999
EXOSC3
0.010 GeneticVariation BEFREE Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. 23975261

2013