Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402760
rs1135402760
BRSK2
C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1554904772
rs1554904772
BRSK2
A 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1553654413
rs1553654413
ITPR1
C 0.700 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018
dbSNP: rs1554297905
rs1554297905
RALA
A 0.700 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018
dbSNP: rs869312667
rs869312667
NBEA
T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
dbSNP: rs878853169
rs878853169
NBEA
T 0.700 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018
dbSNP: rs1135401778
rs1135401778
BPTF
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: rs1555447569
rs1555447569
SCAPER
C 0.700 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
dbSNP: rs1555970404
rs1555970404
ZNF711
TA 0.700 GeneticVariation CLINVAR Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705

2017
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
dbSNP: rs767961672
rs767961672
FOXG1
T 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: 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: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
dbSNP: rs1555970404
rs1555970404
ZNF711
TA 0.700 GeneticVariation CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476

2009
dbSNP: rs1043679457
rs1043679457
ERCC8
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519561
rs1057519561
SNX14
GAAAAAAAAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1060499626
rs1060499626
ZMYND11
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691299
rs1131691299
DDX3X
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs119103286
rs119103286
TTC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
T 0.700 GeneticVariation CLINVAR