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 | 5 | 37170096 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 5 | 37201718 | stop gained | G/A;T | snv | 8.0E-06 |
|
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 | |||||||||||
|
1.000 | 0.160 | 5 | 37179445 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital 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 | 37064752 | frameshift variant | GGTGCCT/- | 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 | 37205455 | splice acceptor variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 5 | 37201810 | splice acceptor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 | |||||||||||
|
0.925 | 5 | 37153962 | frameshift variant | TC/- | del |
|
0.700 | 0 | |||||||||||||
|
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 | |||||||||
|
0.925 | 0.080 | 5 | 37227669 | stop gained | G/A;T | snv | 3.2E-05; 6.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 5 | 37227669 | stop gained | G/A;T | snv | 3.2E-05; 6.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 5 | 37148217 | frameshift variant | T/-;TT | delins | 4.0E-06; 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 5 | 37148217 | frameshift variant | T/-;TT | delins | 4.0E-06; 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 5 | 37148217 | frameshift variant | T/-;TT | delins | 4.0E-06; 8.0E-06 |
|
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 |
|
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 | 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 | 37064751 | frameshift variant | -/CT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |