Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018

dbSNP: rs1553654413
rs1553654413
C 0.700 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018

dbSNP: rs867410737
rs867410737
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018

dbSNP: rs1057519389
rs1057519389
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1057519389
rs1057519389
A 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1057519566
rs1057519566
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017

dbSNP: rs1057519567
rs1057519567
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017

dbSNP: rs1057524157
rs1057524157
T 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

dbSNP: rs1057524157
rs1057524157
T 0.700 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017

dbSNP: rs1135401778
rs1135401778
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs1425998598
rs1425998598
A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs1555639076
rs1555639076
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs1555639411
rs1555639411
TG 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs375002796
rs375002796
T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017

dbSNP: rs587777623
rs587777623
A 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017

dbSNP: rs779027563
rs779027563
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017

dbSNP: rs1057516031
rs1057516031
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1057516032
rs1057516032
GA 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1057516033
rs1057516033
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1057516040
rs1057516040
C 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs114638163
rs114638163
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016

dbSNP: rs145999922
rs145999922
G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs184953805
rs184953805
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs372949028
rs372949028
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016

dbSNP: rs386834034
rs386834034
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016