IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096
N. diseases: 155; N. variants: 33
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | X | 53234646 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53250926 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53234247 | frameshift variant | -/GGCCT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53255936 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53248219 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53248112 | splice donor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53255951 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53243331 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
1.000 | 0.080 | X | 53250303 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | X | 53256062 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53234811 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 5 | 2010 | 2017 | ||||||||
|
1.000 | 0.080 | X | 53255995 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | X | 53250900 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53255945 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53234267 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53247131 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | X | 53254856 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | X | 53248814 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
1.000 | 0.080 | X | 53248133 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | X | 53243445 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53234869 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53250997 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53236495 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 53236386 | stop gained | G/A;T | snv | 5.2E-05 | 1.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | X | 53250946 | frameshift variant | GCCGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |