Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044806
rs797044806
XYLT2
GC 0.700 CausalMutation CLINVAR Homozygous XYLT2 variants as a cause of spondyloocular syndrome. 29136277

2018
dbSNP: rs797044857
rs797044857
GRHL3
G 0.700 GeneticVariation CLINVAR Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate. 28886269

2018
dbSNP: rs797044953
rs797044953
SETD5
T 0.700 GeneticVariation CLINVAR Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. 28881385

2018
dbSNP: rs797044953
rs797044953
SETD5
T 0.700 GeneticVariation CLINVAR Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 28866611

2018
dbSNP: rs878853160
rs878853160
CDK13
G 0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009

2018
dbSNP: rs878853160
rs878853160
CDK13
G 0.700 CausalMutation CLINVAR Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 29021403

2018
dbSNP: rs1026300967
rs1026300967
NTRK1
C 0.700 GeneticVariation CLINVAR Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. 28940190

2017
dbSNP: rs1026300967
rs1026300967
NTRK1
C 0.700 GeneticVariation CLINVAR A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV). 27676246

2017
dbSNP: rs1045118320
rs1045118320
COQ4
A 0.700 GeneticVariation CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency. 29073591

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.700 CausalMutation CLINVAR Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum. 28390077

2017
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

2017
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community. 27870750

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1064794957
rs1064794957
STAT3
A 0.700 GeneticVariation CLINVAR An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis. 28073828

2017
dbSNP: rs1131692232
rs1131692232
PUF60
C 0.700 CausalMutation CLINVAR PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 28327570

2017
dbSNP: rs1131692232
rs1131692232
PUF60
C 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719

2017
dbSNP: rs121434407
rs121434407
GLE1 ; LOC101929270
A 0.700 GeneticVariation CLINVAR Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 27684565

2017
dbSNP: rs121434407
rs121434407
GLE1 ; LOC101929270
A 0.700 GeneticVariation CLINVAR Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 28884921

2017
dbSNP: rs121918490
rs121918490
FGFR2
C 0.700 CausalMutation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017
dbSNP: rs121964881
rs121964881
ATP6V1B1 ; VAX2
A 0.700 CausalMutation CLINVAR Clinical and molecular aspects of distal renal tubular acidosis in children. 28188436

2017