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 | 37063789 | splice acceptor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37063829 | frameshift variant | GAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCGGAA/- | 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 | 0.080 | 5 | 37063841 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37064642 | frameshift variant | CACAAATTGCAAGAGTAGT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37064650 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
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 | 37064752 | frameshift variant | GGTGCCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37064773 | protein altering variant | ATTAA/TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 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 | |||||||||||
|
1.000 | 0.080 | 5 | 37064819 | frameshift variant | CTAATAA/ATT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37064854 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
5 | 37075443 | regulatory region variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 5 | 37120306 | stop gained | G/A | snv | 3.1E-05 | 1.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 5 | 37120306 | stop gained | G/A | snv | 3.1E-05 | 1.9E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 5 | 37122429 | splice donor variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 5 | 37122429 | splice donor variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 5 | 37122451 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 5 | 37125255 | stop gained | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 5 | 37125255 | stop gained | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 5 | 37125315 | frameshift variant | C/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 5 | 37125324 | stop gained | C/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 5 | 37125330 | stop gained | G/A | snv | 3.2E-05 | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 5 | 37125344 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 5 | 37125344 | stop gained | C/T | snv | 7.0E-06 |
|
0.700 | 0 |