Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0041105
Disease: Trismus
Trismus 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0234518
Disease: Slurred speech
Slurred speech 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0563243
Disease: Poor coordination
Poor coordination 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		C 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: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0028738
Disease: Nystagmus
Nystagmus 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377336
rs1555377336
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 		C 0.800 CausalMutation CLINVAR

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