Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041876
rs886041876
HUWE1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041300
rs886041300
KCNH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853325
rs878853325
PPT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
C 0.700 CausalMutation CLINVAR

dbSNP: rs869312873
rs869312873
NALCN
T 0.700 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
dbSNP: rs869312865
rs869312865
GRIN1 ; LOC105376328
0.010 GeneticVariation BEFREE The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy. 28051072

2017
dbSNP: rs869312685
rs869312685
ITPR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025319
rs869025319
UNC80
A 0.700 GeneticVariation CLINVAR

dbSNP: rs869025318
rs869025318
UNC80
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025317
rs869025317
UNC80
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025316
rs869025316
UNC80
T 0.700 GeneticVariation CLINVAR

dbSNP: rs863225264
rs863225264
MTOR
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045140
rs797045140
IQSEC2
C 0.700 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016
dbSNP: rs797045036
rs797045036
TRNT1 ; CRBN
0.010 GeneticVariation BEFREE A missense variant (c. 1171T>C) in the <i>CRBN</i> gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family. 28143899

2017
dbSNP: rs796053356
rs796053356
STXBP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340

2008
dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043

2014
dbSNP: rs796052056
rs796052056
TMEM70
CGT 0.700 CausalMutation CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908

2011
dbSNP: rs796051881
rs796051881
PEX5
CA 0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973

2015
dbSNP: rs794729668
rs794729668
FUZ ; MED25
0.010 GeneticVariation BEFREE Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village. 25792360

2015
dbSNP: rs786205124
rs786205124
ROGDI
CGG 0.700 CausalMutation CLINVAR

dbSNP: rs782393002
rs782393002
HUWE1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs776291104
rs776291104
MED25
T 0.700 GeneticVariation CLINVAR

dbSNP: rs753520553
rs753520553
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs752362727
rs752362727
TMEM67
T 0.700 GeneticVariation CLINVAR