Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519561
rs1057519561
SNX14
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		GAAAAAAAAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1060499626
rs1060499626
ZMYND11
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691299
rs1131691299
DDX3X
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1135401778
rs1135401778
BPTF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		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: rs1135402760
rs1135402760
BRSK2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1135402761
rs1135402761
SYT1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs119103286
rs119103286
TTC8
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1305542291
rs1305542291
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs139194636
rs139194636
WARS2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1395475624
rs1395475624
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs144078282
rs144078282
CLPB
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR

dbSNP: rs145465528
rs145465528
LAMA2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs149617956
rs149617956
MITF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		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: rs149617956
rs149617956
MITF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs149617956
rs149617956
MITF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		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
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
dbSNP: rs1553154130
rs1553154130
RERE
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553546045
rs1553546045
PTH2R
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553654413
rs1553654413
ITPR1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		C 0.700 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018
dbSNP: rs1553920379
rs1553920379
PPP3CA
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		AAAGT 0.700 CausalMutation CLINVAR