Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0015310
Disease: Exotropia
Exotropia 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0566620
Disease: Nasal voice
Nasal voice 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0497327
Disease: Dementia
Dementia 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
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 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0