Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308043
rs1085308043
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308054
rs1085308054
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs121909218
rs121909218
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782719
rs587782719
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR

dbSNP: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913529
rs121913529
KRAS
0.010 GeneticVariation BEFREE We conclude that KENS, the intraneural Schwann cell proliferation and the lipoma in this individual were caused by a postzygotic and mosaic activating c.35G > A (p.Gly12Asp) KRAS mutation. 25928347

2015