Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1034395178
rs1034395178
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018

dbSNP: rs104894226
rs104894226
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005

dbSNP: rs104894228
rs104894228
0.010 GeneticVariation BEFREE The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. 21438134

2011

dbSNP: rs104894366
rs104894366
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011

dbSNP: rs104894366
rs104894366
C 0.700 CausalMutation CLINVAR Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene. 17875939

2007

dbSNP: rs104894366
rs104894366
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006

dbSNP: rs104894396
rs104894396
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894421
rs104894421
0.010 GeneticVariation BEFREE When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. 15333585

2004

dbSNP: rs104894884
rs104894884
0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856

2007

dbSNP: rs104894885
rs104894885
0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856

2007

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: rs1057516037
rs1057516037
AC 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: rs1057516038
rs1057516038
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: rs1057516049
rs1057516049
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516264
rs1057516264
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517686
rs1057517686
0.710 GeneticVariation BEFREE We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016

dbSNP: rs1057517686
rs1057517686
T 0.710 GeneticVariation CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307

2016

dbSNP: rs1057517718
rs1057517718
0.010 GeneticVariation BEFREE Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. 31155284

2019

dbSNP: rs1057517846
rs1057517846
0.010 GeneticVariation BEFREE W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. 27495153

2016

dbSNP: rs1057518345
rs1057518345
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518681
rs1057518681
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518699
rs1057518699
A 0.700 GeneticVariation CLINVAR X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381

2016

dbSNP: rs1057518770
rs1057518770
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518776
rs1057518776
A 0.700 GeneticVariation CLINVAR