CPLANE1, ciliogenesis and planar polarity effector 1, 65250
N. diseases: 120; N. variants: 86
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 | 5 | 37063841 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 5 | 37148216 | frameshift variant | -/C | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 37148216 | frameshift variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 5 | 37064751 | frameshift variant | -/CT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37063837 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 5 | 37206215 | frameshift variant | -/T | ins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 5 | 37183290 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 5 | 37224277 | frameshift variant | -/T | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 37224277 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 5 | 37244435 | frameshift variant | A/-;AA | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 5 | 37226811 | stop gained | A/C | snv | 8.4E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37180021 | stop gained | A/C | snv | 1.5E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 5 | 37187826 | synonymous variant | A/G | snv | 6.5E-04 | 8.5E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 5 | 37244373 | splice donor variant | A/T | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 5 | 37244373 | splice donor variant | A/T | snv | 1.3E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 5 | 37157810 | stop gained | A/T | snv | 2.4E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 5 | 37064776 | frameshift variant | AA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |