Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123009
rs398123009
PACS1
0.810 GeneticVariation BEFREE Here we describe the first Indian patient with Schuurs-Hoeijmakers syndrome (SHMS) with a de novo heterozygous NM_018026.3 (PACS1):c.607C>T (p.Arg203Trp) variant. 30690871

2019
dbSNP: rs398123009
rs398123009
PACS1
T 0.810 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs398123009
rs398123009
PACS1
0.810 GeneticVariation UNIPROT Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249

2012
dbSNP: rs398123009
rs398123009
PACS1
T 0.810 CausalMutation CLINVAR Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249

2012
dbSNP: rs398123009
rs398123009
PACS1
T 0.810 GeneticVariation CLINVAR Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249

2012