Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
A 0.700 GeneticVariation CLINVAR Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. 28397838

2018
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987

2018
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs757823678
rs757823678
DNMT3A
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
dbSNP: rs867262025
rs867262025
PIK3CA
A 0.700 CausalMutation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
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: rs1057519927
rs1057519927
PIK3CA
G 0.700 GeneticVariation CLINVAR CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). 27426476

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: rs142441643
rs142441643
SDHA
T 0.700 CausalMutation CLINVAR Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 28384794

2017
dbSNP: rs1553245943
rs1553245943
ATP1A2
A 0.700 GeneticVariation CLINVAR An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. 28811059

2017
dbSNP: rs1553245943
rs1553245943
ATP1A2
A 0.700 GeneticVariation CLINVAR Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. 28393272

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR De novo mutations in HNRNPU result in a neurodevelopmental syndrome. 28944577

2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
AC 0.700 GeneticVariation CLINVAR Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. 28462983

2017
dbSNP: rs1553897738
rs1553897738
PHOX2B
C 0.700 GeneticVariation CLINVAR Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. 28371199

2017
dbSNP: rs1554062562
rs1554062562
TRIO
T 0.700 CausalMutation CLINVAR An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio. 28928363

2017
dbSNP: rs1554944527
rs1554944527
DEAF1
T 0.700 CausalMutation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1554944527
rs1554944527
DEAF1
T 0.700 CausalMutation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
dbSNP: rs1555100954
rs1555100954
SHANK2
A 0.700 CausalMutation CLINVAR A critical role of spinal Shank2 proteins in NMDA-induced pain hypersensitivity. 28326932

2017
dbSNP: rs1555186842
rs1555186842
KMT2D
AGTGCCCTT 0.700 CausalMutation CLINVAR Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889

2017
dbSNP: rs1555186842
rs1555186842
KMT2D
AGTGCCCTT 0.700 CausalMutation CLINVAR Congenital heart defects in molecularly proven Kabuki syndrome patients. 28884922

2017