Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201073695
rs201073695
IRF2BPL ; LOC107984638
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1566786207
rs1566786207
IRF2BPL ; LOC107984638
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C1836830
Disease: Developmental regression
Developmental regression 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0009806
Disease: Constipation
Constipation 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
CUI: C0020649
Disease: Hypotension
Hypotension 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1837463
Disease: Narrow face
Narrow face 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1305740
Disease: Overbite
Overbite 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C4023422
Disease: Long palm
Long palm 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C0027092
Disease: Myopia
Myopia 		G 0.700 GeneticVariation CLINVAR