Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554274371
rs1554274371
HIVEP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 26153216

2016
dbSNP: rs1554274371
rs1554274371
HIVEP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. 27003583

2016
dbSNP: rs1554274371
rs1554274371
HIVEP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
dbSNP: rs1554274371
rs1554274371
HIVEP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase. 22294689

2012
dbSNP: rs1562505675
rs1562505675
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		CCTGACTGTCCATGTGCATGATCTGTGGCTGGG 0.700 CausalMutation CLINVAR

dbSNP: rs761993070
rs761993070
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312841
rs869312841
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312843
rs869312843
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312844
rs869312844
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs878853251
rs878853251
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		T 0.700 CausalMutation CLINVAR

dbSNP: rs878853269
rs878853269
HIVEP2
CUI: C4310771
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR