Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1002854345
rs1002854345
0.700 GeneticVariation CLINVAR A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. 28295209

2018

dbSNP: rs1002854345
rs1002854345
0.700 GeneticVariation CLINVAR A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986

2018

dbSNP: rs1006898944
rs1006898944
0.700 CausalMutation CLINVAR A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 28386937

2018

dbSNP: rs1026300967
rs1026300967
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

2018

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

2018

dbSNP: rs104894635
rs104894635
0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018

dbSNP: rs104895225
rs104895225
0.700 GeneticVariation CLINVAR A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 27068928

2018

dbSNP: rs104895253
rs104895253
0.700 GeneticVariation CLINVAR A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 27068928

2018

dbSNP: rs104895271
rs104895271
0.700 GeneticVariation CLINVAR A Comprehensive Overview of the Hereditary Periodic Fever Syndromes. 27068928

2018

dbSNP: rs1057518496
rs1057518496
0.700 CausalMutation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2018

dbSNP: rs1057518496
rs1057518496
0.700 CausalMutation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2018

dbSNP: rs1057518496
rs1057518496
0.700 CausalMutation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2018

dbSNP: rs1057519389
rs1057519389
0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2018

dbSNP: rs1057519632
rs1057519632
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: rs1057519632
rs1057519632
0.700 CausalMutation CLINVAR Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 29222009

2018

dbSNP: rs1057519927
rs1057519927
0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018

dbSNP: rs1057521070
rs1057521070
0.700 CausalMutation CLINVAR Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. 28807867

2018

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

2018

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

2018

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

2018

dbSNP: rs1060501915
rs1060501915
0.700 CausalMutation CLINVAR Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. 28660751

2018

dbSNP: rs1064794957
rs1064794957
0.700 GeneticVariation CLINVAR A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). 29180260

2018

dbSNP: rs1131691706
rs1131691706
0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2018

dbSNP: rs1131692232
rs1131692232
0.700 CausalMutation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018

dbSNP: rs1131692261
rs1131692261
0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2018